Name GHR-webpage frequency Description inheritance-pattern related-gene-list Synonym-list Db-key-list key reviewed published
1 15q13.3 microdeletion https://ghr.nlm.nih.gov/condition/15q133-microdeletion 15q13.3 microdeletion likely occurs in about 1 in 40,000 people in the html code memo related-chromosome name ghr-page 15q13.3 microdeletion syndrome db key 2016-08 2017-12-291
(intellectual) general population. It appears to be more common in people with intellectual html:p 15q13.3 microdeletion is a chromosomal change in which a small piece of ad autosomal dominant 15 https://ghr.nlm.nih.gov/chromosome/15 chromosome 15q13.3 deletion syndrome GTR C2677613
(developmental delay) disability, epilepsy, schizophrenia, or autism spectrum disorders. chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm db key
(behavioral) of the chromosome at a position designated q13.3. This chromosomal change GeneReviews mdel15q13_3
(cognitive) increases the risk of intellectual disability, seizures, behavioral problems, db key
(epilepsy) and psychiatric disorders. However, some people with a 15q13.3 microdeletion do MeSH D025063
(psychiatric/ mental: schizophrenia) not appear to have any associated features. db key
(distinctive facial feature) html:p About half of all people with a 15q13.3 microdeletion have learning difficulties OMIM 612001
(heart) or intellectual disability, which is usually mild or moderate. Many of these db key
(limbs) individuals have delayed speech and language skills. 15q13.3 microdeletion also Orphanet 199318
(some may not have any signs) appears to be a major risk factor for recurrent seizures (epilepsy); about db key
one-third of people with this chromosomal change have epilepsy. SNOMED CT 699254009
html:p 15q13.3 microdeletion has also been associated with behavioral problems,
including a short attention span, aggression, impulsive behavior, and
hyperactivity. Some people with a 15q13.3 microdeletion have been diagnosed with
developmental disorders that affect communication and social interaction
(autism spectrum disorders). This chromosomal change may also be associated with
an increased risk of psychiatric disorders, particularly schizophrenia. Other
signs and symptoms of 15q13.3 microdeletion can include heart defects, minor
abnormalities involving the hands and arms, and subtle differences in facial
features.
html:p Some people with a 15q13.3 microdeletion do not have any of the intellectual,
behavioral, or physical features described above. In these individuals, the
microdeletion is often detected when they undergo genetic testing because they
have an affected relative. It is unknown why a 15q13.3 microdeletion causes
cognitive and behavioral problems in some individuals but few or no health
problems in others.
2 15q24 microdeletion https://ghr.nlm.nih.gov/condition/15q24-microdeletion This condition is very rare; only a few dozen affected individuals have html code memo related-chromosome name ghr-page 15q24 deletion db key 2011-09 2017-12-29
(intellectual) been identified. html:p 15q24 microdeletion is a chromosomal change in which a small piece of chromosome n not inherited 15 https://ghr.nlm.nih.gov/chromosome/15 15q24 microdeletion syndrome GTR C3150674
(developmental) 15 is deleted in each cell. The deletion occurs on the long (q) arm of the interstitial deletion of chromosome 15q24 db key
(male:sexual ambiguous) chromosome at a position designated q24. GeneReviews mdel15q24
(short) html:p 15q24 microdeletion is associated with mild to moderate intellectual disability db key
(muscle) and delayed speech development. Other common signs and symptoms include short MeSH D025063
(skeletal) stature, weak muscle tone (hypotonia), and skeletal abnormalities including db key
(distinctive facial feature) loose (lax) joints. Affected males may have genital abnormalities, which can OMIM 613406
include an unusually small penis (micropenis) and the opening of the urethra on db key
the underside of the penis (hypospadias). Affected individuals also have Orphanet 94065
distinctive facial features such as a high front hairline, broad eyebrows, db key
widely set eyes (hypertelorism), outside corners of the eyes that point downward SNOMED CT 699308002
(downslanting palpebral fissures), a broad nasal bridge, a full lower lip, and
a long, smooth space between the upper lip and nose (philtrum).
3 16p11.2 deletion syndrome https://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome Most people tested for the 16p11.2 deletion have come to medical attention html code memo related-chromosome name ghr-page autism, susceptibility to, 14A db key 2014-09 2017-12-29
(intellectual) as a result of developmental delay or autistic behaviors. Other individuals with html:p 16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of ad autosomal dominant 16 https://ghr.nlm.nih.gov/chromosome/16 AUTS14A GTR C3150154
(developmental) the 16p11.2 deletion have no associated health or behavioral problems, and so chromosome 16. The deletion occurs near the middle of the chromosome at a db key
(autistic) the deletion may never be detected. For this reason, the prevalence of this location designated p11.2. GTR CN128718
(epilepsy) deletion in the general population is difficult to determine but has been html:p People with 16p11.2 deletion syndrome usually have developmental delay and db key
28 (physical: low-set ears; partially webbed toes) estimated at approximately 3 in 10,000. intellectual disability. Most also have at least some features of autism GeneReviews del16p11_2
(behavioral) spectrum disorders. These disorders are characterized by impaired communication db key
(obesity) and socialization skills, as well as delayed development of speech and language. MeSH D025063
(some may not have sign) In 16p11.2 deletion syndrome, expressive language skills (vocabulary and the db key
production of speech) are generally more severely affected than receptive OMIM 611913
language skills (the ability to understand speech). Some people with this db key
disorder have recurrent seizures (epilepsy). SNOMED CT 699307007
html:p Some affected individuals have minor physical abnormalities such as low-set ears
or partially webbed toes (partial syndactyly). People with this disorder are
also at increased risk of obesity compared with the general population. However,
there is no particular pattern of physical abnormalities that characterizes
16p11.2 deletion syndrome. Signs and symptoms of the disorder vary even among
affected members of the same family. Some people with the deletion have no
identified physical, intellectual, or behavioral abnormalities.
4 16p11.2 duplication https://ghr.nlm.nih.gov/condition/16p112-duplication 16p11.2 duplications have been estimated to occur in about 3 in 10,000 html code memo related-chromosome name ghr-page 16p11.2 duplication syndrome db key 2016-12 2017-12-29
(intellectual) people. These changes are present in about 4 in 10,000 people who have mental html:p 16p11.2 duplication is a chromosomal change in which a small amount of genetic ad autosomal dominant 16 https://ghr.nlm.nih.gov/chromosome/16 16p11.2 microduplication GTR C3150155
(developmental) health problems or difficulties with speech and language. Many people with the material within chromosome 16 is abnormally copied (duplicated). The duplication autism, susceptibility to, 14B db key
(behavioral: ADHD) duplication are likely never diagnosed because there are many causes of these occurs near the middle of the chromosome at a location designated p11.2. This AUTS14B MeSH D025063
(psychiatric/ mental: schizophrenia, anxiety, depression) problems, and some people with the duplication have no related health or duplication can have a variety of effects. Common characteristics that occur in db key
(autistic) developmental problems. people with a 16p11.2 duplication include a low weight; a small head size OMIM 614671
(epilepsy) (microcephaly); and developmental delay, especially in speech and language. db key
(malformation: kidney; urinary tract) Affected individuals also have an increased risk of behavioral problems. Orphanet 370079
(some may not have any signs) However, some people with the duplication have no identified physical or db key
behavioral abnormalities. SNOMED CT 88326002
html:p Developmental delay and intellectual disability can occur in people with a
16p11.2 duplication. Approximately one-third of children with this condition
have delays in developing physical skills such as sitting, crawling, or walking.
The average IQ of affected individuals is about 26 points lower than that of
their parents without the duplication. About 80 percent of people with a 16p11.2
duplication have problems related to speech or language. Both expressive
language skills (vocabulary and the production of speech) and receptive language
skills (the ability to understand speech) can be affected.
html:p One of the most common behavioral problems associated with this chromosomal
change is attention deficit hyperactivity disorder. Autism spectrum disorders,
which affect communication and social skills, are diagnosed in about one in five
people with a 16p11.2 duplication. Affected individuals also have an increased
risk of mental health problems, including schizophrenia, anxiety, and
depression. Recurrent seizures are possible in this condition, although they do
not occur in most affected individuals.
html:p Other abnormalities that can occur with a 16p11.2 duplication include
malformations of the kidneys and urinary tract. However, there is no particular
pattern of physical abnormalities that characterizes 16p11.2 duplications; signs
and symptoms related to the chromosomal change vary even among affected members
of the same family.
5 16p12.2 microdeletion https://ghr.nlm.nih.gov/condition/16p122-microdeletion Researchers estimate that about 1 in 2,000 newborns have a 16p12.2 html code memo related-chromosome name ghr-page 16p12.1 microdeletion db key 2017-08 2017-12-29
(intellectual) microdeletion and show signs and symptoms of the condition. However, the actual html:p 16p12.2 microdeletion is a chromosomal change in which a small amount of genetic ad autosomal dominant 16 https://ghr.nlm.nih.gov/chromosome/16 chromosome 16p12.1 deletion syndrome, 520-kb GeneReviews mdel16p12_2
(developmental) number may be higher because many people with the microdeletion are likely never material on chromosome 16 is deleted. The deletion occurs on the short (p) arm db key
(hypotonia) diagnosed. Some never come to medical attention because they have no related of the chromosome at a location designated p12.2. Common characteristics that MeSH D025063
(slow growth: short) health or behavioral problems or have only mild signs and symptoms. Others have have been described in people with a 16p12.2 microdeletion include developmental db key
(small head) nonspecific features for which there can be many causes. delay, delayed speech, intellectual disability that ranges from mild to OMIM 136570
(Malformation: heart, kidney) profound, weak muscle tone (hypotonia), slow growth resulting in short stature,
(epilepsy) an usually small head (microcephaly), malformations of the heart, recurrent
(behavioral) seizures (epilepsy), and psychiatric and behavioral problems.
(psychiatric/ mental) html:p Less common features that can occur in people with a 16p12.2 microdeletion can
(hearing loss) include hearing loss, an opening in the lip (cleft lip) with or without an
(physical: cleft lip; cleft palate) opening in the roof of the mouth (cleft palate), dental abnormalities, malformed
(dental) kidneys, and genital abnormalities in males. However, there is no particular
(some may not have any signs) pattern of physical abnormalities that characterizes individuals with a 16p12.2
microdeletion. Signs and symptoms related to the chromosomal change vary even
among affected members of the same family, and some people with the deletion
have no identified physical or behavioral abnormalities.
6 17 alpha-hydroxylase/17,20-lyase deficiency https://ghr.nlm.nih.gov/condition/17-alpha-hydroxylase-17-20-lyase-deficiency 17α-hydroxylase/17,20-lyase deficiency accounts for about 1 percent of html code memo related-gene gene-symbol ghr-page 17-alpha-hydroxylase deficiency db key 2016-03 2017-12-29
7α-羟化酶缺乏症 congenital adrenal hyperplasia cases. It is estimated to occur in 1 in 1 million html:p 17 alpha(α)-hydroxylase/17,20-lyase deficiency is a condition that affects the ar autosomal recessive CYP17A1 https://ghr.nlm.nih.gov/gene/CYP17A1 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia GTR C0268285
17,20-裂解酶缺乏症 people worldwide. function of certain hormone-producing glands called the gonads (ovaries in adrenal hyperplasia V db key
CYP17 缺乏症 females and testes in males) and the adrenal glands. The gonads direct sexual combined 17 alpha-hydroxylase/17,20-lyase deficiency MeSH D000312
(hormone imbalance) development before birth and during puberty and are important for reproduction. congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency db key
(high blood pressure) The adrenal glands, which are located on top of the kidneys, regulate the congenital adrenal hyperplasia type 5 OMIM 202110
(low blood potassium) production of certain hormones, including those that control salt levels in the deficiency of steroid 17-alpha-monooxygenase db key
(infertility: M&F) body. People with 17α-hydroxylase/17,20-lyase deficiency have an imbalance of Orphanet 418
(abnormal male genitalia: small penis, males raised as females) many of the hormones that are made in these glands. 17α-hydroxylase/17,20-lyase db key
deficiency is one of a group of disorders, known as congenital adrenal Orphanet 90793
hyperplasias, that impair hormone production and disrupt sexual development and db key
maturation. SNOMED CT 124220008
html:p Hormone imbalances lead to the characteristic signs and symptoms of
17α-hydroxylase/17,20-lyase deficiency, which include high blood pressure
(hypertension), low levels of potassium in the blood (hypokalemia), and abnormal
sexual development. The severity of the features varies. Two forms of the
condition are recognized: complete 17α-hydroxylase/17,20-lyase deficiency, which
is more severe, and partial 17α-hydroxylase/17,20-lyase deficiency, which is
typically less so.
html:p Males and females are affected by disruptions to sexual development differently.
Females (who have two X chromosomes) with 17α-hydroxylase/17,20-lyase
deficiency are born with normal external female genitalia; however, the internal
reproductive organs, including the uterus and ovaries, may be underdeveloped.
Women with complete 17α-hydroxylase/17,20-lyase deficiency do not develop
secondary sex characteristics, such as breasts and pubic hair, and do not
menstruate (amenorrhea). Women with partial 17α-hydroxylase/17,20-lyase
deficiency may develop some secondary sex characteristics; menstruation is
typically irregular or absent. Either form of the disorder results in an
inability to conceive a baby (infertility).
html:p In affected individuals who are chromosomally male (having an X and a Y
chromosome), problems with sexual development lead to abnormalities of the
external genitalia. The most severely affected are born with characteristically
female external genitalia and are generally raised as females. However, because
they do not have female internal reproductive organs, these individuals have
amenorrhea and do not develop female secondary sex characteristics. These
individuals have testes, but they are abnormally located in the abdomen
(undescended). Sometimes, complete 17α-hydroxylase/17,20-lyase deficiency leads
to external genitalia that do not look clearly male or clearly female (ambiguous
genitalia). Males with partial 17α-hydroxylase/17,20-lyase deficiency usually
have abnormal male genitalia, such as a small penis (micropenis), the opening of
the urethra on the underside of the penis (hypospadias), or a scrotum divided
into two lobes (bifid scrotum). Males with either complete or partial
17α-hydroxylase/17,20-lyase deficiency are also infertile.
7 17-beta hydroxysteroid dehydrogenase 3 deficiency 17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare disorder. html code memo related-gene gene-symbol ghr-page 17-beta hydroxysteroid dehydrogenase III deficiency db key 2008-11 2017-12-29
(sexual development) Researchers have estimated that this condition occurs in approximately 1 in html:p 17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects ar autosomal recessive HSD17B3 https://ghr.nlm.nih.gov/gene/HSD17B3 17-ketosteroid reductase deficiency of testis GTR CN239160
(hormone) 147,000 newborns. It is more common in the Arab population of Gaza, where it male sexual development. People with this condition are genetically male, with 17-KSR deficiency db key
(male:sexual ambiguous) affects 1 in 200 to 300 people. one X and one Y chromosome in each cell, and they have male gonads (testes). neutral 17-beta-hydroxysteroid oxidoreductase deficiency MeSH D058490
Their bodies, however, do not produce enough of the male sex hormone pseudohermaphroditism, male, with gynecomastia db key
testosterone. Testosterone has a critical role in male sexual development, and a testosterone 17-beta-dehydrogenase deficiency OMIM 264300
shortage of this hormone disrupts the formation of the external sex organs db key
before birth. Orphanet 752
genetically male, appear female html:p Most people with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with db key
external genitalia that appear female. In some cases, the external genitalia do SNOMED CT 50658006
not look clearly male or clearly female (sometimes called ambiguous genitalia).
Still other affected infants have genitalia that appear predominantly male,
often with an unusually small penis (micropenis) or the urethra opening on the
underside of the penis (hypospadias).
html:p During puberty, people with this condition develop some secondary sex
characteristics, such as increased muscle mass, deepening of the voice, and
development of male pattern body hair. The penis and scrotum (the sac of skin
that holds the testes) grow larger during this period. In addition to these
changes typical of adolescent boys, some affected males may also experience
breast enlargement (gynecomastia). Men with this disorder are generally unable
to father children (infertile).
html:p Children with 17-beta hydroxysteroid dehydrogenase 3 deficiency are often raised
as girls. About half of these individuals adopt a male gender role in
adolescence or early adulthood.
8 17β-hydroxysteroid dehydrogenase type 10 deficiency https://ghr.nlm.nih.gov/condition/17beta-hydroxysteroid-dehydrogenase-type-10-deficiency The prevalence of HSD10 deficiency is unknown. At least 11 affected html code memo related-gene gene-symbol ghr-page 2-methyl-3-hydroxybutyric aciduria db key 2009-10 2017-12-29
(developmental regression: before 5) individuals have been identified. html:p 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency is a disorder that xd X-linked dominant HSD17B10 https://ghr.nlm.nih.gov/gene/HSD17B10 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency GTR C1845517
(vision loss) affects many parts of the body. This condition is typically more severe in males 2M3HBA db key
(hearing loss) than in females. Males with HSD10 deficiency have normal early development but 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency MeSH D028361
soon begin to lose skills they have acquired. This developmental regression 3H2MBD deficiency db key
typically occurs before age 5 and results in intellectual disability and loss of HSD10 deficiency OMIM 300438
motor skills such as sitting, standing, and walking. Affected males frequently hydroxyacyl-CoA dehydrogenase II deficiency db key
have weak muscle tone (hypotonia), recurrent seizures (epilepsy), and movement MHBD deficiency SNOMED CT 791000124107
problems. Progressive vision and hearing loss is also common in males with HSD10 db key
deficiency. SNOMED CT 801000124108
html:p Females with HSD10 deficiency may have developmental delay, learning problems,
or intellectual disability, but they do not experience developmental regression.
Some females may have additional features of this condition, such as epilepsy,
movement problems, and hearing loss.
9 17q12 deletion syndrome https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome The worldwide prevalence of 17q12 deletion syndrome is unknown, although html code memo related-gene gene-symbol ghr-page 17q12 chromosomal microdeletion db key 2017-04 2017-12-29
the condition appears to be rare. One study estimated that 17q12 deletion html:p 17q12 deletion syndrome is a condition that results from the deletion of a small ad autosomal dominant HNF1B https://ghr.nlm.nih.gov/gene/HNF1B 17q12 microdeletion GTR C3281138
syndrome occurs in 1 in 14,500 people in Iceland. piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm of related-gene gene-symbol ghr-page 17q12 recurrent deletion syndrome db key
the chromosome at a position designated q12. LHX1 https://ghr.nlm.nih.gov/gene/LHX1 deletion 17q12 GeneReviews mdel17q12
html:p The signs and symptoms of 17q12 deletion syndrome vary widely, even among related-chromosome name ghr-page recurrent genomic rearrangement in chromosome 17q12 db key
affected members of the same family. Among the more common features associated 17 https://ghr.nlm.nih.gov/chromosome/17 MeSH D001523
with this chromosomal change are problems with development or function of the db key
kidneys and urinary system. These abnormalities range from very severe MeSH D002872
malformations, leading to kidney failure before birth, to mild or no problems db key
with kidney and urinary tract function. Fluid-filled sacs (cysts) in the kidneys MeSH D003920
are particularly common. Many affected individuals also develop a form of db key
diabetes called maturity-onset diabetes of the young type 5 (MODY5), which is MeSH D007674
caused by a malfunction of certain cells in the pancreas. MODY5 usually appears db key
in adolescence or early adulthood, most often before age 25. The combination of OMIM 614527
kidney cysts and MODY5 is sometimes referred to as renal cysts and diabetes db key
(RCAD) syndrome. Orphanet 261265
html:p About half of people with 17q12 deletion syndrome have delayed development
(particularly speech and language delays), intellectual disability, or
behavioral or psychiatric disorders. Behavioral and psychiatric conditions that
have been reported in people with 17q12 deletion syndrome include autism
spectrum disorder (which affects social interaction and communication),
schizophrenia, anxiety, and bipolar disorder.
html:p Less commonly, 17q12 deletion syndrome also causes abnormalities of the eyes,
liver, brain, genitalia, and other body systems. Some females with this
chromosomal change have Mayer-Rokitansky-Küster-Hauser syndrome, which is
characterized by underdevelopment or absence of the vagina and uterus. 17q12
deletion syndrome is also sometimes associated with subtle differences in facial
features.
10 17q12 duplication https://ghr.nlm.nih.gov/condition/17q12-duplication 17q12 duplications appear to be uncommon. Several dozen people with this html code memo related-chromosome name ghr-page 17q12 duplication syndrome db key 2017-04 2017-12-29
(some may not have any signs) chromosomal change have been described in the medical literature. html:p 17q12 duplication is a chromosomal change in which a small piece of chromosome ad autosomal dominant 17 https://ghr.nlm.nih.gov/chromosome/17 17q12 microduplication GTR C3281137
17 is copied (duplicated) abnormally in each cell. The duplication occurs on the 17q12 microduplication syndrome db key
long (q) arm of the chromosome at a position designated q12. 17q12 recurrent duplication GeneReviews dup17q12
html:p Signs and symptoms related to 17q12 duplications vary significantly, even among chromosome 17q12 duplication syndrome db key
members of the same family. Some individuals with the duplication have no recurrent duplication of 17q12 MeSH D002658
apparent signs or symptoms, or the features are very mild. Other individuals can db key
have intellectual disability, delayed development, and a wide range of physical MeSH D008607
abnormalities. db key
html:p Intellectual and learning ability in people with 17q12 duplications ranges from MeSH D012640
normal to severely impaired. Many affected individuals have delayed development, db key
particularly involving speech and language skills and gross motor skills such MeSH D058674
sitting, standing, and walking. Seizures are also common. Behavioral and db key
psychiatric conditions that have been reported in people with 17q12 duplications OMIM 614526
include autism spectrum disorder (which affects social interaction and db key
communication), schizophrenia, aggression, and self-injury. About half of Orphanet 261272
affected individuals have an unusually small head (microcephaly).
html:p Less commonly, 17q12 duplications have been associated with abnormalities of the
eyes, heart, kidneys, and brain. Some individuals with this chromosomal change
have subtle differences in facial features, although these are not consistent.
11 19p13.13 deletion syndrome https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome This condition appears to be rare. About 10 affected individuals have been html code memo related-gene gene-symbol ghr-page 19p13.13 microdeletion db key 2016-06 2017-12-29
described in the medical literature. html:p 19p13.13 deletion syndrome is a condition that results from a chromosomal change n not inherited BEST2 https://ghr.nlm.nih.gov/gene/BEST2 19p13.13 microdeletion syndrome GTR C3150894
in which a small piece of chromosome 19 is deleted in each cell. The deletion related-gene gene-symbol ghr-page chromosome 19p13.13 deletion syndrome db key
occurs on the short (p) arm of the chromosome at a position designated p13.13. CACNA1A https://ghr.nlm.nih.gov/gene/CACNA1A MeSH D025063
html:p Features commonly associated with this chromosomal change include an unusually related-gene gene-symbol ghr-page db key
large head size (macrocephaly), tall stature, and intellectual disability that CALR https://ghr.nlm.nih.gov/gene/CALR OMIM 613638
is usually moderate in severity. Many affected individuals have significantly related-gene gene-symbol ghr-page db key
* delayed development, including speech, and children may speak few or no words. MAST1 https://ghr.nlm.nih.gov/gene/MAST1 Orphanet 357001
Weak muscle tone (hypotonia) and problems with coordinating muscle movement related-gene gene-symbol ghr-page
(ataxia) contribute to delays in gross motor skills (such as sitting and NFIX https://ghr.nlm.nih.gov/gene/NFIX
walking) and fine motor skills (such as holding a pencil). related-chromosome name ghr-page
html:p Other signs and symptoms that can occur with 19p13.13 deletion syndrome include 19 https://ghr.nlm.nih.gov/chromosome/19
seizures, abnormalities of brain structure, and subtle differences in facial
features (such as a prominent forehead). Many affected individuals have problems
with feeding and digestion, including constipation, diarrhea, vomiting, and
abdominal pain. Eye problems that can impair vision are also common. These
include eyes that do not point in the same direction (strabismus) and
underdevelopment of the optic nerves, which carry visual information from the
eyes to the brain.
html:p The signs and symptoms of 19p13.13 deletion syndrome vary among affected
individuals. In part, this variation occurs because the size of the deletion,
and the number of genes it affects, varies from person to person.
1p31.3 del
12 1p36 deletion syndrome https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome 1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in html code memo related-chromosome name ghr-page chromosome 1p36 deletion syndrome db key 2014-01 2017-12-29
10,000 newborns. However, this may be an underestimate because some affected html:p 1p36 deletion syndrome is a disorder that typically causes severe intellectual n not inherited 1 https://ghr.nlm.nih.gov/chromosome/1 distal monosomy 1p36 GTR C1842870
individuals are likely never diagnosed. disability. Most affected individuals do not speak, or speak only a few words. monosomy 1p36 syndrome db key
They may have temper tantrums, bite themselves, or exhibit other behavior GeneReviews del1p36
problems. Most have structural abnormalities of the brain, and seizures occur in db key
more than half of individuals with this disorder. Affected individuals usually MeSH D025063
have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia). db key
html:p People with 1p36 deletion syndrome have a small head that is also unusually OMIM 607872
short and wide in proportion to its size (microbrachycephaly). Affected db key
individuals also have distinctive facial features including deep-set eyes with Orphanet 1606
straight eyebrows; a sunken appearance of the middle of the face (midface db key
hypoplasia); a broad, flat nose; a long area between the nose and mouth SNOMED CT 699306003
(philtrum); a pointed chin; and ears that are low-set, rotated backwards, and
abnormally shaped.
html:p People with 1p36 deletion syndrome may have vision or hearing problems. Some
have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or
genitalia.
13 1q21.1 microdeletion https://ghr.nlm.nih.gov/condition/1q211-microdeletion 1q21.1 microdeletion is a rare chromosomal change; only a few dozen html code memo related-gene gene-symbol ghr-page 1q21.1 contiguous gene deletion db key 2012-10 2017-12-29
individuals with this deletion have been reported in the medical literature. html:p 1q21.1 microdeletion is a chromosomal change in which a small piece of ad autosomal dominant ACP6 https://ghr.nlm.nih.gov/gene/ACP6 1q21.1 deletion GTR C2675897
chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of related-gene gene-symbol ghr-page chromosome 1q21.1 deletion syndrome db key
the chromosome in a region designated q21.1. This chromosomal change increases BCL9 https://ghr.nlm.nih.gov/gene/BCL9 chromosome 1q21.1 deletion syndrome, 1.35-Mb GeneReviews mdel1q21_1
the risk of delayed development, intellectual disability, physical related-gene gene-symbol ghr-page db key
abnormalities, and neurological and psychiatric problems. However, some people CHD1L https://ghr.nlm.nih.gov/gene/CHD1L MeSH D025063
with a 1q21.1 microdeletion do not appear to have any associated features. related-gene gene-symbol ghr-page db key
html:p About 75 percent of all children with a 1q21.1 microdeletion have delayed FMO5 https://ghr.nlm.nih.gov/gene/FMO5 OMIM 612474
development, particularly affecting the development of motor skills such as related-gene gene-symbol ghr-page db key
sitting, standing, and walking. The intellectual disability and learning GJA5 https://ghr.nlm.nih.gov/gene/GJA5 Orphanet 250989
problems associated with this genetic change are usually mild. related-gene gene-symbol ghr-page db key
html:p Distinctive facial features can also be associated with 1q21.1 microdeletions. GJA8 https://ghr.nlm.nih.gov/gene/GJA8 SNOMED CT 699305004
The changes are usually subtle and can include a prominent forehead; a large, related-gene gene-symbol ghr-page
rounded nasal tip; a long space between the nose and upper lip (philtrum); and a GPR89B https://ghr.nlm.nih.gov/gene/GPR89B
high, arched roof of the mouth (palate). Other common signs and symptoms of related-gene gene-symbol ghr-page
1q21.1 microdeletions include an unusually small head (microcephaly), short HYDIN https://ghr.nlm.nih.gov/gene/HYDIN
stature, and eye problems such as clouding of the lenses (cataracts). Less related-gene gene-symbol ghr-page
frequently, 1q21.1 microdeletions are associated with heart defects, PRKAB2 https://ghr.nlm.nih.gov/gene/PRKAB2
abnormalities of the genitalia or urinary system, bone abnormalities related-chromosome name ghr-page
(particularly in the hands and feet), and hearing loss. 1 https://ghr.nlm.nih.gov/chromosome/1
html:p Neurological problems that have been reported in people with a 1q21.1
microdeletion include seizures and weak muscle tone (hypotonia). Psychiatric or
behavioral problems affect a small percentage of people with this genetic
change. These include developmental conditions called autism spectrum disorders
that affect communication and social interaction, attention deficit
hyperactivity disorder (ADHD), and sleep disturbances. Studies suggest that
deletions of genetic material from the 1q21.1 region may also be risk factors
for schizophrenia.
html:p Some people with a 1q21.1 microdeletion do not have any of the intellectual,
physical, or psychiatric features described above. In these individuals, the
microdeletion is often detected when they undergo genetic testing because they
have a relative with the chromosomal change. It is unknown why 1q21.1
microdeletions cause cognitive and physical changes in some individuals but few
or no health problems in others, even within the same family.
14 1q21.1 microduplication https://ghr.nlm.nih.gov/condition/1q211-microduplication 1q21.1 microduplications occur in about 3 in 10,000 individuals in the html code memo related-chromosome name ghr-page 1q21.1 duplication db key 2014-11 2017-12-29
general population. Studies suggest that these chromosomal changes are 15 to 20 html:p 1q21.1 microduplication is a chromosomal change in which a small amount of ad autosomal dominant 1 https://ghr.nlm.nih.gov/chromosome/1 1q21.1 duplication syndrome GTR C2675891
times more common in people with schizophrenia or tetralogy of Fallot. Many genetic material on chromosome 1 is abnormally copied (duplicated). The db key
people with 1q21.1 microduplications are likely never diagnosed because the duplication occurs on the long (q) arm of the chromosome at a location MeSH D025063
features of this condition can have a variety of causes. In addition, some designated q21.1. db key
people with this chromosomal change have no related health or developmental html:p Some people with a 1q21.1 microduplication have developmental delay and OMIM 612475
problems that would bring them to medical attention. intellectual disability that is typically mild to moderate. Individuals with db key
this condition can also have features of autism spectrum disorders. These Orphanet 250994
disorders are characterized by impaired communication and socialization skills, db key
as well as delayed development of speech and language. Expressive language SNOMED CT 79649006
skills (vocabulary and the production of speech) tend to be more impaired than
receptive language skills (the ability to understand speech) in affected
individuals. In childhood, 1q21.1 microduplications may also be associated with
an increased risk of attention deficit hyperactivity disorder and other
behavioral problems. Psychiatric disorders such as schizophrenia or mood
disorders such as anxiety or depression occur in some affected individuals,
usually during adulthood. Rarely, recurrent seizures (epilepsy) occur in people
with a 1q21.1 microduplication.
html:p Some individuals with a 1q21.1 microduplication are born with malformations of
the heart, including a particular combination of heart defects known as
tetralogy of Fallot. Less commonly, other physical malformations such as the
urethra opening on the underside of the penis (hypospadias) in males, inward-
and upward-turning feet (clubfeet), or misalignment of the hip joint (hip
dysplasia) are present at birth. Individuals with a 1q21.1 microduplication may
also have a larger than average head size or taller than average adult stature.
Some have slightly unusual facial features such as wide-set eyes or low-set
ears. As adults, individuals with a 1q21.1 microduplication may be prone to
develop cysts, swollen and knotted (varicose) veins, or carpal tunnel syndrome,
which is characterized by numbness, tingling, and weakness in the hands and
fingers. However, there is no particular pattern of physical abnormalities that
characterizes 1q21.1 microduplications. Signs and symptoms related to the
chromosomal change vary even among affected members of the same family. Some
people with the duplication have no identified physical, intellectual, or
behavioral abnormalities.
15 2-hydroxyglutaric aciduria https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria 2-hydroxyglutaric aciduria is a rare disorder. D-2-HGA and L-2-HGA have html code memo related-gene gene-symbol ghr-page 2-HGA db key 2013-08 2017-12-29
( neurometabolic disorder ) each been reported to affect fewer than 150 individuals worldwide. Combined html:p 2-hydroxyglutaric aciduria is a condition that causes progressive damage to the ad autosomal dominant D2HGDH https://ghr.nlm.nih.gov/gene/D2HGDH GTR C1855995
D,L-2-HGA appears to be even rarer, with only about a dozen reported cases. brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria code memo related-gene gene-symbol ghr-page db key
(D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined ar autosomal recessive IDH2 https://ghr.nlm.nih.gov/gene/IDH2 GTR C2746066
D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). related-gene gene-symbol ghr-page db key
html:p The main features of D-2-HGA are delayed development, seizures, weak muscle tone L2HGDH https://ghr.nlm.nih.gov/gene/L2HGDH GTR C3150909
(hypotonia), and abnormalities in the largest part of the brain (the cerebrum), related-gene gene-symbol ghr-page db key
which controls many important functions such as muscle movement, speech, SLC25A1 https://ghr.nlm.nih.gov/gene/SLC25A1 GTR C3152055
vision, thinking, emotion, and memory. Researchers have described two subtypes db key
of D-2-HGA, type I and type II. The two subtypes are distinguished by their MeSH D020739
genetic cause and pattern of inheritance, although they also have some db key
differences in signs and symptoms. Type II tends to begin earlier and often OMIM 236792
causes more severe health problems than type I. Type II may also be associated db key
with a weakened and enlarged heart (cardiomyopathy), a feature that is typically OMIM 600721
not found with type I. db key
html:p L-2-HGA particularly affects a region of the brain called the cerebellum, which OMIM 613657
is involved in coordinating movements. As a result, many affected individuals db key
have problems with balance and muscle coordination (ataxia). Additional features OMIM 615182
of L-2-HGA can include delayed development, seizures, speech difficulties, and db key
an unusually large head (macrocephaly). Typically, signs and symptoms of this Orphanet 356978
disorder begin during infancy or early childhood. The disorder worsens over db key
time, usually leading to severe disability by early adulthood. Orphanet 79314
html:p Combined D,L-2-HGA causes severe brain abnormalities that become apparent in db key
early infancy. Affected infants have severe seizures, weak muscle tone Orphanet 79315
(hypotonia), and breathing and feeding problems. They usually survive only into db key
infancy or early childhood. SNOMED CT 237960000
db key
SNOMED CT 237961001
db key
SNOMED CT 698870008
16 21-hydroxylase deficiency https://ghr.nlm.nih.gov/condition/21-hydroxylase-deficiency The classic forms of 21-hydroxylase deficiency occur in 1 in 15,000 html code memo related-gene gene-symbol ghr-page CAH1 db key 2015-03 2017-12-29
newborns. The prevalence of the non-classic form of 21-hydroxylase deficiency is html:p 21-hydroxylase deficiency is an inherited disorder that affects the adrenal ar autosomal recessive CYP21A2 https://ghr.nlm.nih.gov/gene/CYP21A2 congenital adrenal hyperplasia 1 GTR C0852654
estimated to be 1 in 1,000 individuals. The prevalence of both classic and glands. The adrenal glands are located on top of the kidneys and produce a congenital adrenal hyperplasia due to 21 hydroxylase deficiency db key
non-classic forms varies among different ethnic populations.21-hydroxylase variety of hormones that regulate many essential functions in the body. In CYP21 deficiency GeneReviews cah
deficiency is one of a group of disorders known as congenital adrenal people with 21-hydroxylase deficiency, the adrenal glands produce excess db key
hyperplasias that impair hormone production and disrupt sexual development. androgens, which are male sex hormones. ICD-10-CM E25.0
21-hydroxylase deficiency is responsible for about 95 percent of all cases of html:p There are three types of 21-hydroxylase deficiency. Two types are classic forms, db key
congenital adrenal hyperplasia. known as the salt-wasting and simple virilizing types. The third type is called MeSH D000312
the non-classic type. The salt-wasting type is the most severe, the simple db key
virilizing type is less severe, and the non-classic type is the least severe OMIM 201910
form. db key
html:p Males and females with either classic form of 21-hydroxylase deficiency tend to Orphanet 418
have an early growth spurt, but their final adult height is usually shorter than db key
others in their family. Additionally, affected individuals may have a reduced SNOMED CT 124221007
ability to have biological children (decreased fertility). Females may also db key
develop excessive body hair growth (hirsutism), male pattern baldness, and SNOMED CT 237753002
irregular menstruation. db key
html:p Approximately 75 percent of individuals with classic 21-hydroxylase deficiency SNOMED CT 52604008
have the salt-wasting type. Hormone production is extremely low in this form of db key
the disorder. Affected individuals lose large amounts of sodium in their urine, SNOMED CT 71578002
which can be life-threatening in early infancy. Babies with the salt-wasting db key
type can experience poor feeding, weight loss, dehydration, and vomiting. SNOMED CT 717261006
Individuals with the simple virilizing form do not experience salt loss.
html:p In both the salt-wasting and simple virilizing forms of this disorder, females
typically have external genitalia that do not look clearly male or female
(ambiguous genitalia). Males usually have normal genitalia, but the testes may
be small.
html:p Females with the non-classic type of 21-hydroxylase deficiency have normal
female genitalia. As affected females get older, they may experience hirsutism,
male pattern baldness, irregular menstruation, and decreased fertility. Males
with the non-classic type may have early beard growth and small testes. Some
individuals with this type of 21-hydroxylase deficiency have no symptoms of the
disorder.
17 22q11.2 deletion syndrome https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome 22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. However, html code memo related-gene gene-symbol ghr-page 22q11.2DS db key 2013-07 2017-12-29
DiGeorge syndrome the condition may actually be more common than this estimate because doctors and html:p 22q11.2 deletion syndrome (which is also known by several other names, listed ad autosomal dominant COMT https://ghr.nlm.nih.gov/gene/COMT autosomal dominant Opitz G/BBB syndrome GTR C0012236
DiGeorge综合症 researchers suspect it is underdiagnosed due to its variable features. The below) is a disorder caused by the deletion of a small piece of chromosome 22. related-gene gene-symbol ghr-page CATCH22 db key
迪喬治症候群 condition may not be identified in people with mild signs and symptoms, or it The deletion occurs near the middle of the chromosome at a location designated TBX1 https://ghr.nlm.nih.gov/gene/TBX1 Cayler cardiofacial syndrome GTR C0220704
may be mistaken for other disorders with overlapping features. q11.2. related-chromosome name ghr-page conotruncal anomaly face syndrome (CTAF) db key
html:p 22q11.2 deletion syndrome has many possible signs and symptoms that can affect 22 https://ghr.nlm.nih.gov/chromosome/22 deletion 22q11.2 syndrome GTR C0431406
almost any part of the body. The features of this syndrome vary widely, even DiGeorge syndrome db key
among affected members of the same family. Common signs and symptoms include Sedlackova syndrome GTR C1801950
heart abnormalities that are often present from birth, an opening in the roof of Shprintzen syndrome db key
the mouth (a cleft palate), and distinctive facial features. People with VCFS GeneReviews gr_22q11deletion
22q11.2 deletion syndrome often experience recurrent infections caused by velo-cardio-facial syndrome db key
problems with the immune system, and some develop autoimmune disorders such as velocardiofacial syndrome ICD-10-CM D82.1
rheumatoid arthritis and Graves disease in which the immune system attacks the db key
body's own tissues and organs. Affected individuals may also have breathing ICD-10-CM Q93.81
problems, kidney abnormalities, low levels of calcium in the blood (which can db key
result in seizures), a decrease in blood platelets (thrombocytopenia), MeSH D004062
significant feeding difficulties, gastrointestinal problems, and hearing loss. db key
Skeletal differences are possible, including mild short stature and, less OMIM 145410
frequently, abnormalities of the spinal bones. db key
html:p Many children with 22q11.2 deletion syndrome have developmental delays, OMIM 188400
including delayed growth and speech development, and learning disabilities. db key
Later in life, they are at an increased risk of developing mental illnesses such OMIM 192430
as schizophrenia, depression, anxiety, and bipolar disorder. Additionally, db key
affected children are more likely than children without 22q11.2 deletion Orphanet 567
syndrome to have attention deficit hyperactivity disorder (ADHD) and db key
developmental conditions such as autism spectrum disorders that affect SNOMED CT 449818005
communication and social interaction. db key
html:p Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, SNOMED CT 77128003
different groupings of features were once described as separate conditions. db key
Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome SNOMED CT 83092002
(also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In
addition, some children with the 22q11.2 deletion were diagnosed with the
autosomal dominant form of Opitz G/BBB syndrome and Cayler cardiofacial
syndrome. Once the genetic basis for these disorders was identified, doctors
determined that they were all part of a single syndrome with many possible signs
and symptoms. To avoid confusion, this condition is usually called 22q11.2
deletion syndrome, a description based on its underlying genetic cause.
18 22q11.2 duplication https://ghr.nlm.nih.gov/condition/22q112-duplication The prevalence of the 22q11.2 duplication in the general population is html code memo related-chromosome name ghr-page chromosome 22q11.2 duplication syndrome db key 2015-01 2017-12-29
(physical) difficult to determine. Because many individuals with this duplication have no html:p 22q11.2 duplication is a condition caused by an extra copy of a small piece of ad autosomal dominant 22 https://ghr.nlm.nih.gov/chromosome/22 chromosome 22q11.2 microduplication syndrome GTR C2675369
(intellectual) associated symptoms, their duplication may never be detected.Most people tested chromosome 22. The duplication occurs near the middle of the chromosome at a db key
for the 22q11.2 duplication have come to medical attention as a result of location designated q11.2. GeneReviews dupl22q11
developmental delay or other problems affecting themselves or a family member. html:p The features of this condition vary widely, even among members of the same db key
In one study, about 1 in 700 people tested for these reasons had the 22q11.2 family. Affected individuals may have developmental delay, intellectual MeSH D025063
duplication. Overall, more than 60 individuals with the duplication have been disability, slow growth leading to short stature, and weak muscle tone db key
identified. (hypotonia). Many people with the duplication have no apparent physical or OMIM 608363
intellectual disabilities. db key
SNOMED CT 699311001
22q13 Deletion Syndrome
19 22q13.3 deletion syndrome https://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome At least 500 cases of 22q13.3 deletion syndrome are known. html code memo related-gene gene-symbol ghr-page 22q13 deletion syndrome db key 2009-09 2017-12-29
html:p 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid ad autosomal dominant SHANK3 https://ghr.nlm.nih.gov/gene/SHANK3 deletion 22q13 syndrome GTR C1853490
syndrome, is a disorder caused by the loss of a small piece of chromosome 22. related-chromosome name ghr-page deletion 22q13.3 syndrome db key
The deletion occurs near the end of the chromosome at a location designated 22 https://ghr.nlm.nih.gov/chromosome/22 monosomy 22q13 GeneReviews gr_22q13_3
q13.3. Phelan-McDermid syndrome db key
html:p The features of 22q13.3 deletion syndrome vary widely and involve many parts of MeSH D025063
the body. Characteristic signs and symptoms include developmental delay, db key
moderate to profound intellectual disability, decreased muscle tone (hypotonia), OMIM 606232
and absent or delayed speech. Some people with this condition have autism or db key
autistic-like behavior that affects communication and social interaction, such Orphanet 48652
as poor eye contact, sensitivity to touch, and aggressive behaviors. They may db key
also chew on non-food items such as clothing. Less frequently, people with this SNOMED CT 699310000
condition have seizures.
html:p Individuals with 22q13.3 deletion syndrome tend to have a decreased sensitivity
to pain. Many also have a reduced ability to sweat, which can lead to a greater
risk of overheating and dehydration. Some people with this condition have
episodes of frequent vomiting and nausea (cyclic vomiting) and backflow of
stomach acids into the esophagus (gastroesophageal reflux).
html:p People with 22q13.3 deletion syndrome typically have distinctive facial
features, including a long, narrow head; prominent ears; a pointed chin; droopy
eyelids (ptosis); and deep-set eyes. Other physical features seen with this
condition include large and fleshy hands and/or feet, a fusion of the second and
third toes (syndactyly), and small or abnormal toenails. Some affected
individuals have rapid (accelerated) growth.
2p15-p16.1 Microdeletion
2q33.1 Deletion Syndrome
20 2q37 deletion syndrome https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome 2q37 deletion syndrome appears to be a rare condition, although its exact html code memo related-chromosome name ghr-page Albright hereditary osteodystrophy-like syndrome db key 2009-04 2017-12-29
短指(趾)智力障礙症候群 prevalence is unknown. Approximately 100 cases have been reported worldwide. html:p 2q37 deletion syndrome is a condition that can affect many parts of the body. n not inherited 2 https://ghr.nlm.nih.gov/chromosome/2 brachydactyly-mental retardation syndrome GTR C1838126
brachydactyly-mental retardation syndrome This condition is characterized by weak muscle tone (hypotonia) in infancy, mild db key
to severe intellectual disability and developmental delay, behavioral problems, GeneReviews del2q37_2
characteristic facial features, and other physical abnormalities. db key
html:p Most babies with 2q37 deletion syndrome are born with hypotonia, which usually MeSH D025063
improves with age. About 25 percent of people with this condition have autism, db key
a developmental condition that affects communication and social interaction. OMIM 600430
html:p The characteristic facial features associated with 2q37 deletion syndrome db key
include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat Orphanet 1001
nasal bridge, a thin upper lip, and minor ear abnormalities. Other features of db key
this condition can include short stature, obesity, unusually short fingers and SNOMED CT 702357000
toes (brachymetaphalangy), sparse hair, heart defects, seizures, and an
inflammatory skin disorder called eczema. A few people with 2q37 deletion
syndrome have a rare form of kidney cancer called Wilms tumor. Some affected
individuals have malformations of the brain, gastrointestinal system, kidneys,
or genitalia.
21 3-beta-hydroxysteroid dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency The exact prevalence of 3β-HSD deficiency is unknown. At least 60 affected html code memo related-gene gene-symbol ghr-page 3 beta-HSD deficiency db key 2015-04 2017-12-29
individuals have been reported. html:p 3-beta (β)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited ar autosomal recessive HSD3B2 https://ghr.nlm.nih.gov/gene/HSD3B2 3 beta-ol dehydrogenase deficiency GTR C0342471
disorder that affects hormone-producing glands including the gonads (ovaries in 3-beta–hydroxysteroid dehydrogenase deficiency db key
females and testes in males) and the adrenal glands. The gonads direct sexual 3b-hydroxysteroid dehydrogenase deficiency ICD-10-CM E25.0
development before birth and during puberty. The adrenal glands, which are 3β-HSD deficiency db key
located on top of the kidneys, regulate the production of certain hormones and 3β-HSD deficiency congenital adrenal hyperplasia MeSH D000312
control salt levels in the body. People with 3β-HSD deficiency lack many of the 3β-hydroxysteroid dehydrogenase deficiency db key
hormones that are made in these glands. 3β-HSD deficiency is one of a group of type II 3β-hydroxysteroid dehydrogenase deficiency OMIM 201810
disorders known as congenital adrenal hyperplasias that impair hormone db key
production and disrupt sexual development and maturation. Orphanet 90791
html:p There are three types of 3β-HSD deficiency: the salt-wasting, non-salt-wasting, db key
and non-classic types. In the salt-wasting type, hormone production is extremely SNOMED CT 124136000
low. Individuals with this type lose large amounts of sodium in their urine, db key
which can be life-threatening. Individuals affected with the salt-wasting type SNOMED CT 54470008
are usually diagnosed soon after birth due to complications related to a lack of
salt reabsorption, including dehydration, poor feeding, and vomiting. People
with the non-salt-wasting type of 3β-HSD deficiency produce enough hormone to
allow sodium reabsorption in the kidneys. Individuals with the non-classic type
have the mildest symptoms and do not experience salt wasting.
html:p In males with any type of 3β-HSD deficiency, problems with male sex hormones
lead to abnormalities of the external genitalia. These abnormalities range from
having the opening of the urethra on the underside of the penis (hypospadias) to
having external genitalia that do not look clearly male or female (ambiguous
genitalia). The severity of the genital abnormality does not consistently depend
on the type of the condition. Because of the hormone dysfunction in the testes,
males with 3β-HSD deficiency are frequently unable to have biological children
(infertile).
html:p Females with 3β-HSD deficiency may have slight abnormalities of the external
genitalia at birth. Females affected with the non-salt-wasting or non-classic
types are typically not diagnosed until mid-childhood or puberty, when they may
experience irregular menstruation, premature pubic hair growth, and excessive
body hair growth (hirsutism). Females with 3β-HSD deficiency have difficulty
conceiving a child (impaired fertility).
22 3-hydroxy-3-methylglutaryl-CoA lyase deficiency https://ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficienc HMG-CoA lyase deficiency is a rare condition; it has been reported in fewer html code memo related-gene gene-symbol ghr-page 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency db key 2017-03 2017-12-29
HMG-CoA裂解酶缺乏症 y than 100 individuals worldwide. Most people diagnosed with this disorder have html:p 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase ar autosomal recessive HMGCL https://ghr.nlm.nih.gov/gene/HMGCL 3-OH 3-CH3 glutaric aciduria GTR C0268601
been from Saudi Arabia, Portugal, or Spain. deficiency) is an uncommon inherited disorder in which the body cannot process a 3-OH 3-methyl glutaric aciduria db key
particular protein building block (amino acid) called leucine. Additionally, 3HMG MeSH D000592
the disorder prevents the body from making ketones, which are compounds that are Deficiency of hydroxymethylglutaryl-CoA lyase db key
used for energy during periods without food (fasting). HMG OMIM 246450
html:p The signs and symptoms of HMG-CoA lyase deficiency usually appear within the HMG-CoA lyase deficiency db key
first year of life. The condition causes episodes of vomiting, diarrhea, Hydroxymethylglutaric aciduria Orphanet 20
dehydration, extreme tiredness (lethargy), and weak muscle tone (hypotonia). db key
During an episode, blood sugar levels can become dangerously low (hypoglycemia), SNOMED CT 124611007
and a buildup of harmful compounds can cause the blood to become too acidic db key
(metabolic acidosis). If untreated, the disorder can lead to breathing SNOMED CT 410059004
problems, convulsions, coma, and death. Episodes are often triggered by an
infection, fasting, strenuous exercise, or other types of stress.
html:p HMG-CoA lyase deficiency is sometimes mistaken for Reye syndrome, a severe
disorder that develops in children while they appear to be recovering from viral
infections such as chicken pox or flu. Most cases of Reye syndrome are
associated with the use of aspirin during these viral infections.
23 3-hydroxyacyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency The exact incidence of 3-hydroxyacyl-CoA dehydrogenase deficiency is html code memo related-gene gene-symbol ghr-page 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency db key 2010-04 2017-12-29
unknown; it has been reported in only a small number of people worldwide. html:p 3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that ar autosomal recessive HADH https://ghr.nlm.nih.gov/gene/HADH 3-hydroxyacyl-coenzyme A dehydrogenase deficiency GTR C1291230
prevents the body from converting certain fats to energy, particularly during deficiency of 3-hydroxyacyl-CoA dehydrogenase db key
prolonged periods without food (fasting). HAD deficiency MeSH D008052
html:p Initial signs and symptoms of this disorder typically occur during infancy or HADH deficiency db key
early childhood and can include poor appetite, vomiting, diarrhea, and lack of HADHSC deficiency OMIM 231530
energy (lethargy). Affected individuals can also have muscle weakness L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency db key
(hypotonia), liver problems, low blood sugar (hypoglycemia), and abnormally high M/SCHAD deficiency Orphanet 71212
levels of insulin (hyperinsulinism). Insulin controls the amount of sugar that SCHAD deficiency db key
moves from the blood into cells for conversion to energy. Individuals with SNOMED CT 124122005
3-hydroxyacyl-CoA dehydrogenase deficiency are also at risk for complications
such as seizures, life-threatening heart and breathing problems, coma, and
sudden death. This condition may explain some cases of sudden infant death
syndrome (SIDS), which is defined as unexplained death in babies younger than 1
year.
html:p Problems related to 3-hydroxyacyl-CoA dehydrogenase deficiency can be triggered
by periods of fasting or by illnesses such as viral infections. This disorder is
sometimes mistaken for Reye syndrome, a severe disorder that may develop in
children while they appear to be recovering from viral infections such as
chicken pox or flu. Most cases of Reye syndrome are associated with the use of
aspirin during these viral infections.
24 3-M syndrome https://ghr.nlm.nih.gov/condition/3-m-syndrome 3-M syndrome is a rare disorder. About 50 individuals with this disorder html code memo related-gene gene-symbol ghr-page 3-MSBN db key 2008-06 2017-12-29
have been identified worldwide. html:p 3-M syndrome is a disorder that causes short stature (dwarfism), unusual facial ar autosomal recessive CUL7 https://ghr.nlm.nih.gov/gene/CUL7 dolichospondylic dysplasia GTR C1848862
features, and skeletal abnormalities. The name of this condition comes from the Le Merrer syndrome db key
initials of three researchers who first identified it: Miller, McKusick, and three-M slender-boned nanism GeneReviews gr_3ms
Malvaux. three M syndrome db key
html:p Individuals with 3-M syndrome grow extremely slowly before birth, and this slow Yakut short stature syndrome MeSH D004392
growth continues throughout childhood and adolescence. They have low birth db key
weight and length and remain much smaller than others in their family, growing OMIM 273750
to an adult height of approximately 120 centimeters to 130 centimeters (4 feet db key
to 4 feet 6 inches). Affected individuals have a normally sized head that looks Orphanet 2616
disproportionately large in comparison with their body. The head may be db key
unusually long and narrow in shape (dolichocephalic). SNOMED CT 702342007
html:p In addition to short stature, people with 3-M syndrome have a triangle-shaped
face with a broad, prominent forehead (frontal bossing) and a pointed chin; the
middle of the face is less prominent (hypoplastic midface). They may have large
ears, full eyebrows, an upturned nose with a fleshy tip, a long area between the
nose and mouth (philtrum), a prominent mouth, and full lips.
html:p Affected individuals may have a short, broad neck and chest with prominent
shoulder blades and square shoulders. They may have abnormal spinal curvature
such as a rounded upper back that also curves to the side (kyphoscoliosis) or
exaggerated curvature of the lower back (hyperlordosis). People with 3-M
syndrome may also have unusual curving of the fingers (clinodactyly), short
fifth (pinky) fingers, prominent heels, and loose joints. Other skeletal
abnormalities, such as unusually slender long bones in the arms and legs, tall,
narrow spinal bones (vertebrae), or slightly delayed bone age may be apparent in
x-ray images.
html:p 3-M syndrome can also affect other body systems. Males with 3-M syndrome may
produce reduced amounts of sex hormones (hypogonadism) and occasionally have the
urethra opening on the underside of the penis (hypospadias). People with this
condition may be at increased risk of developing bulges in blood vessel walls
(aneurysms) in the brain. Intelligence is unaffected by 3-M syndrome, and life
expectancy is generally normal.
html:p A variant of 3-M syndrome called Yakut short stature syndrome has been
identified in an isolated population in Siberia. In addition to having most of
the physical features characteristic of 3-M syndrome, people with this form of
the disorder are often born with respiratory problems that can be
life-threatening in infancy.
25 3-methylcrotonyl-CoA carboxylase deficiency, 3MCC https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency This condition is detected in an estimated 1 in 36,000 newborns worldwide. html code memo related-gene gene-symbol ghr-page 3-MCC db key 2008-10 2017-12-29
3-甲基巴豆醯輔酵素羧化酵素缺乏症 html:p 3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is ar autosomal recessive MCCC1 https://ghr.nlm.nih.gov/gene/MCCC1 3-MCC deficiency GTR C0268600
an inherited disorder in which the body is unable to process certain proteins related-gene gene-symbol ghr-page 3-methylcrotonyl-coenzyme A carboxylase deficiency db key
properly. People with this disorder have a shortage of an enzyme that helps MCCC2 https://ghr.nlm.nih.gov/gene/MCCC2 3-methylcrotonylglycinuria GTR C1859499
break down proteins containing a particular building block (amino acid) called 3MCC db key
leucine. BMCC deficiency GTR CN028786
html:p Infants with 3-MCC deficiency appear normal at birth but usually develop signs Deficiency of methylcrotonoyl-CoA carboxylase db key
and symptoms in infancy or early childhood. The characteristic features of this MCC deficiency MeSH D008661
condition, which can range from mild to life-threatening, include feeding Methylcrotonyl-CoA carboxylase deficiency db key
difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness OMIM 210200
(lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can db key
lead to delayed development, seizures, and coma. Many of these complications can OMIM 210210
be prevented with early detection and lifelong management with a low-protein db key
diet and appropriate supplements. Some people with gene mutations that cause Orphanet 6
3-MCC deficiency never experience any signs or symptoms of the condition. db key
html:p The characteristic features of 3-MCC deficiency are similar to those of Reye SNOMED CT 13144005
syndrome, a severe disorder that develops in children while they appear to be
recovering from viral infections such as chicken pox or flu. Most cases of Reye
syndrome are associated with the use of aspirin during these viral infections.
26 3-methylglutaconyl-CoA hydratase deficiency https://ghr.nlm.nih.gov/condition/3-methylglutaconyl-coa-hydratase-deficiency 3-methylglutaconyl-CoA hydratase deficiency is a rare disorder; at least 20 html code memo related-gene gene-symbol ghr-page 3-methylglutaconic aciduria, type I db key 2014-06 2017-12-29
cases have been reported in the scientific literature. html:p 3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that ar autosomal recessive AUH https://ghr.nlm.nih.gov/gene/AUH 3-MG-CoA-hydratase deficiency GTR C0342727
causes neurological problems. Beginning in infancy to early childhood, children AUH defect db key
with this condition often have delayed development of mental and motor skills MGA, type I ICD-10-CM E71.111
(psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and MGA1 db key
spasms and weakness of the arms and legs (spastic quadriparesis). Affected MGCA1 MeSH D000592
individuals can also have optic atrophy, which is the degeneration (atrophy) of primary 3-methylglutaconic aciduria db key
nerve cells that carry visual information from the eyes to the brain. OMIM 250950
html:p In some cases, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency db key
begin in adulthood, often in a person's twenties or thirties. These individuals Orphanet 67046
have damage to a type of brain tissue called white matter db key
(leukoencephalopathy), which likely contributes to progressive problems with SNOMED CT 237951008
speech (dysarthria), difficulty coordinating movements (ataxia), stiffness
(spasticity), optic atrophy, and a decline in intellectual function (dementia).
html:p Affected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase
deficiency in childhood often go on to develop leukoencephalopathy and other
neurological problems in adulthood.
html:p All people with 3-methylglutaconyl-CoA hydratase deficiency accumulate large
amounts of a substance called 3-methylglutaconic acid in their body fluids. As a
result, they have elevated levels of acid in their blood (metabolic acidosis)
and excrete large amounts of acid in their urine (aciduria).
3-methylglutaconyl-CoA hydratase deficiency is one of a group of metabolic
disorders that can be diagnosed by the presence of increased levels
3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with
3-methylglutaconyl-CoA hydratase deficiency also have high urine levels of
another acid called 3-methylglutaric acid.
27 3MC syndrome https://ghr.nlm.nih.gov/condition/3mc-syndrome 3MC syndrome is a rare disorder; its exact prevalence is unknown. html code memo related-gene gene-symbol ghr-page Carnevale-Krajewska-Fischetto syndrome db key 2015-12 2017-12-29
html:p 3MC syndrome is a disorder characterized by unusual facial features and problems ar autosomal recessive COLEC11 https://ghr.nlm.nih.gov/gene/COLEC11 Carnevale syndrome GTR C0796032
affecting other tissues and organs of the body. related-gene gene-symbol ghr-page craniofacial-ulnar-renal syndrome db key
html:p The distinctive facial features of people with 3MC syndrome include widely MASP1 https://ghr.nlm.nih.gov/gene/MASP1 craniosynostosis with lid anomalies GTR C0796059
spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), Malpuech facial clefting syndrome db key
droopy eyelids (ptosis), highly arched eyebrows, and an opening in the upper lip Malpuech syndrome GTR C0796279
(cleft lip) with an opening in the roof of the mouth (cleft palate). Common Michels syndrome db key
features affecting other body systems include developmental delay, intellectual Mingarelli syndrome GTR CN230015
disability, hearing loss, and slow growth after birth resulting in short oculo-skeletal-abdominal syndrome db key
stature. Other features of 3MC syndrome can include abnormal fusion of certain oculopalatoskeletal syndrome MeSH D019465
bones in the skull (craniosynostosis) or forearm (radioulnar synostosis); an OSA syndrome db key
outgrowth of the tailbone (caudal appendage); a soft out-pouching around the ptosis of eyelids with diastasis recti and hip dysplasia OMIM 248340
belly-button (an umbilical hernia); and abnormalities of the kidneys, bladder, ptosis-strabismus-rectus addominis diastasis db key
or genitals. OMIM 257920
html:p 3MC syndrome encompasses four disorders that were formerly considered to be db key
separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes. Researchers OMIM 265050
now generally consider these disorders to be part of the same condition, which db key
is called 3MC based on the initials of the older condition names. Orphanet 293843
db key
SNOMED CT 720756005
28 3p deletion syndrome https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome 3p deletion syndrome is likely a rare disorder; at least 30 cases have been html code memo related-chromosome name ghr-page 3p partial monosomy syndrome db key 2016-06 2017-12-29
described in the scientific literature. html:p 3p deletion syndrome is a condition that results from a chromosomal change in n not inherited 3 https://ghr.nlm.nih.gov/chromosome/3 3p- syndrome GTR C0795806
which a small piece of chromosome 3 is deleted in each cell. The deletion occurs chromosome 3, deletion 3p db key
at the end of the short (p) arm of the chromosome. This chromosomal change chromosome 3, monosomy 3p MeSH D002872
often leads to intellectual disability, developmental delay, and abnormal chromosome 3p deletion syndrome db key
physical features. del(3p) syndrome OMIM 613792
html:p Individuals with 3p deletion syndrome typically have severe to profound deletion 3p db key
intellectual disability. Most have delayed development of language skills as monosomy 3p Orphanet 1620
well as motor skills such as crawling and walking. While affected individuals partial monosomy 3p db key
learn to walk in childhood, their language ability usually remains limited. Some SNOMED CT 449819002
individuals with 3p deletion syndrome have obsessive-compulsive disorder (OCD)
or features of autism spectrum disorders, which are conditions characterized by
impaired communication and social interaction.
html:p The physical signs and symptoms of 3p deletion syndrome vary greatly. Many
affected individuals have slow growth, an abnormally small head (microcephaly),
a small jaw (micrognathia), droopy eyelids (ptosis), malformed ears or nose, and
widely spaced eyes (hypertelorism). Other frequent features include skin folds
covering the inner corner of the eyes (epicanthal folds), extra fingers or toes
(polydactyly), and an opening in the roof of the mouth (cleft palate).
Additionally, individuals with 3p deletion syndrome may have seizures, weak
muscle tone (hypotonia), intestinal abnormalities, or congenital heart defects.
29 3q29 microdeletion syndrome https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome 3q29 microdeletion syndrome appears to be very rare. Based on a study from html code memo related-chromosome name ghr-page 3q subtelomere deletion syndrome db key 2017-08 2017-12-29
3q29缺失症候群 Iceland, the condition has an estimated incidence of 1 in 30,000 to 40,000 html:p 3q29 microdeletion syndrome (also known as 3q29 deletion syndrome) is a ad autosomal dominant 3 https://ghr.nlm.nih.gov/chromosome/3 3q29 deletion syndrome GTR C2674949
people in that population. About 75 affected individuals have been described in condition that results from the deletion of a small piece of chromosome 3 in 3q29 recurrent deletion db key
the medical literature. each cell. The deletion occurs on the long (q) arm of the chromosome at a chromosome 3q29 deletion syndrome GeneReviews mdel3q29
position designated q29. microdeletion 3q29 syndrome db key
html:p The features associated with 3q29 microdeletion syndrome vary widely. Some monosomy 3q29 MeSH D002872
individuals with this chromosomal change have very mild or no related signs and db key
symptoms, and the deletion is discovered through genetic testing only after a MeSH D008607
family member is diagnosed. However, most people with a 3q29 microdeletion have db key
delayed development (particularly speech delay) and mild or moderate OMIM 609425
intellectual disability. They also have an increased risk of behavioral or db key
psychiatric disorders, including autism spectrum disorder (which affects social Orphanet 65286
interaction and communication), anxiety, bipolar disorder, and schizophrenia. db key
html:p Infants with 3q29 microdeletion syndrome often have feeding difficulties and do SNOMED CT 716456000
not grow and gain weight at the expected rate (which is described as failure to
thrive). Weak muscle tone (hypotonia), recurrent ear infections, an unusually
small head (microcephaly), and yellowing of the skin and whites of the eyes
(jaundice) can also occur. Some affected babies are born with a heart defect,
most commonly an abnormal connection between two major arteries called patent
ductus arteriosus (PDA).
html:p Other possible features of 3q29 microdeletion syndrome include gastrointestinal
disorders, such as a backflow of acidic stomach contents into the esophagus
(gastroesophageal reflux), and abnormalities of the teeth. There may also be a
subtle pattern of characteristic facial features, including a long, narrow face;
a narrow space between the nose and upper lip (short philtrum); a high bridge
of the nose; and large ears.
30 3q29 microduplication syndrome https://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome 3q29 microduplication syndrome appears to be very rare. Fewer than 30 html code memo related-chromosome name ghr-page 3q29 interstitial microduplication db key 2017-08 2017-12-29
3q29擴增症候群 affected individuals have been described in the medical literature. html:p 3q29 microduplication syndrome (also known as 3q29 duplication syndrome) is a ad autosomal dominant 3 https://ghr.nlm.nih.gov/chromosome/3 3q29 microduplication GTR C2749873
condition that results from the copying (duplication) of a small piece of chromosome 3q29 duplication syndrome db key
chromosome 3 in each cell. The duplication occurs on the long (q) arm of the microduplication 3q29 syndrome MeSH D008607
chromosome at a position designated q29. trisomy 3q29 db key
html:p The features associated with 3q29 microduplication syndrome vary widely. Some MeSH D058674
individuals with this chromosomal change have very mild or no related signs and db key
symptoms, and the duplication is discovered because they undergo genetic testing OMIM 611936
only after a family member is diagnosed. Other people with a 3q29 db key
microduplication have delayed development (particularly speech delay) and Orphanet 251038
intellectual disability or learning difficulties. Although most affected db key
individuals have no major birth defects, eye abnormalities, heart defects, and SNOMED CT 717973004
an unusually small head (microcephaly) can occur. 3q29 microduplication syndrome
may increase the likelihood of being overweight or obese, although it is hard
to determine whether these weight issues are caused by the duplication.
31 46,XX testicular disorder of sex development https://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development Approximately 1 in 20,000 individuals with a male appearance have 46,XX html code memo related-gene gene-symbol ghr-page 46,XX sex reversal db key 2008-11 2017-12-29
testicular disorder. html:p 46,XX testicular disorder of sex development is a condition in which individuals ad autosomal dominant SOX3 https://ghr.nlm.nih.gov/gene/SOX3 XX male syndrome GTR C2936420
with two X chromosomes in each cell, the pattern normally found in females, related-gene gene-symbol ghr-page XX sex reversal db key
have a male appearance. People with this disorder have male external genitalia. SOX9 https://ghr.nlm.nih.gov/gene/SOX9 GeneReviews xxms
They generally have small testes and may also have abnormalities such as related-gene gene-symbol ghr-page db key
undescended testes (cryptorchidism) or the urethra opening on the underside of SRY https://ghr.nlm.nih.gov/gene/SRY MeSH D058531
the penis (hypospadias). A small number of affected people have external related-chromosome name ghr-page db key
genitalia that do not look clearly male or clearly female (ambiguous genitalia). X https://ghr.nlm.nih.gov/chromosome/X OMIM 400045
Affected children are typically raised as males and have a male gender related-chromosome name ghr-page db key
identity. Y https://ghr.nlm.nih.gov/chromosome/Y Orphanet 393
html:p At puberty, most affected individuals require treatment with the male sex db key
hormone testosterone to induce development of male secondary sex characteristics SNOMED CT 74398009
such as facial hair and deepening of the voice (masculinization). Hormone
treatment can also help prevent breast enlargement (gynecomastia). Adults with
this disorder are usually shorter than average for males and are unable to have
children (infertile).
32 47,XYY syndrome https://ghr.nlm.nih.gov/condition/47xyy-syndrome This condition occurs in about 1 in 1,000 newborn boys. Five to 10 boys html code memo related-chromosome name ghr-page Jacob's syndrome db key 2009-01 2017-12-29
47,XYY 症候群 with 47,XYY syndrome are born in the United States each day. html:p 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of n not inherited Y https://ghr.nlm.nih.gov/chromosome/Y XYY Karyotype GTR C3266843
a male's cells. Although males with this condition may be taller than XYY syndrome db key
average, this chromosomal change typically causes no unusual physical features. YY syndrome ICD-10-CM Q98.5
Most males with 47,XYY syndrome have normal sexual development and are able to db key
father children. MeSH D014997
html:p 47,XYY syndrome is associated with an increased risk of learning disabilities db key
and delayed development of speech and language skills. Delayed development of Orphanet 8
motor skills (such as sitting and walking), weak muscle tone (hypotonia), hand db key
tremors or other involuntary movements (motor tics), and behavioral and SNOMED CT 50749006
emotional difficulties are also possible. These characteristics vary widely
among affected boys and men.
html:p A small percentage of males with 47,XYY syndrome are diagnosed with autistic
spectrum disorders, which are developmental conditions that affect communication
and social interaction.
33 48,XXYY syndrome https://ghr.nlm.nih.gov/condition/48xxyy-syndrome 48,XXYY syndrome is estimated to affect 1 in 18,000 to 40,000 males. html code memo related-chromosome name ghr-page XXYY syndrome db key 2017-10 2017-12-29
html:p 48,XXYY syndrome is a chromosomal condition that causes infertility, n not inherited X https://ghr.nlm.nih.gov/chromosome/X GTR C2936741
developmental and behavioral disorders, and other health problems in males. related-chromosome name ghr-page db key
html:p 48,XXYY disrupts male sexual development. Adolescent and adult males with this Y https://ghr.nlm.nih.gov/chromosome/Y MeSH D007713
condition typically have small testes that do not produce enough testosterone, db key
which is the hormone that directs male sexual development. A shortage of Orphanet 10
testosterone during puberty can lead to reduced facial and body hair, poor db key
muscle development, low energy levels, and an increased risk for breast SNOMED CT 403760006
enlargement (gynecomastia). Because their testes do not function normally, males
with 48, XXYY syndrome have an inability to father children (infertility).
html:p 48,XXYY syndrome can affect other parts of the body as well. Males with 48,XXYY
syndrome are often taller than other males their age with an average adult
height of 6 feet 4 inches (193 cm). They tend to develop a tremor that typically
starts in adolescence and increases with age. Dental problems are frequently
seen with this condition; they include delayed appearance of the primary (baby)
or secondary (adult) teeth, thin tooth enamel, crowded and/or misaligned teeth,
and multiple cavities. As affected males get older, they may develop a narrowing
of the blood vessels in the legs, called peripheral vascular disease.
Peripheral vascular disease can cause skin ulcers to form. Affected males are
also at risk for developing a type of clot called a deep vein thrombosis (DVT)
that occurs in the deep veins of the legs. Additionally, males with 48,XXYY
syndrome may have flat feet (pes planus), elbow abnormalities, abnormal fusion
of certain bones in the forearm (radioulnar synostosis), allergies, asthma, type
2 diabetes, seizures, and congenital heart defects.
html:p Most males with 48,XXYY syndrome have some degree of difficulty with speech and
language development. Learning disabilities, especially those that are
language-based, are very common in males with this disorder. Affected males seem
to perform better at tasks focused on math, visual-spatial skills such as
puzzles, and memorization of locations or directions. Some boys with 48,XXYY
syndrome have delayed development of motor skills such as sitting, standing, and
walking that can lead to poor coordination. Affected males have higher than
average rates of behavioral disorders, such as attention deficit hyperactivity
disorder (ADHD); mood disorders, including anxiety and bipolar disorder; and
autism spectrum disorder, which affects communication and social interaction.
34 5-alpha reductase deficiency https://ghr.nlm.nih.gov/condition/5-alpha-reductase-deficiency 5-alpha reductase deficiency is a rare condition; the exact incidence is html code memo related-gene gene-symbol ghr-page familial incomplete male pseudohermaphroditism, type 2 db key 2017-04 2017-12-29
Steroid 5-alpha-reductase deficiency unknown. Large families with affected members have been found in several html:p 5-alpha reductase deficiency is a condition that affects male sexual development ar autosomal recessive SRD5A2 https://ghr.nlm.nih.gov/gene/SRD5A2 male pseudohermaphroditism due to 5-alpha-reductase deficiency GTR C0268297
SRD5A2酵素缺乏症 countries, including the Dominican Republic, Papua New Guinea, Turkey, and before birth and during puberty. People with this condition are genetically PPSH db key
Egypt. male, with one X and one Y chromosome in each cell, and they have male gonads pseudovaginal perineoscrotal hypospadias MeSH D058490
(testes). Their bodies, however, do not produce enough of a hormone called steroid 5-alpha-reductase deficiency db key
dihydrotestosterone (DHT). DHT has a critical role in male sexual development, OMIM 264600
and a shortage of this hormone disrupts the formation of the external sex organs db key
before birth. Orphanet 753
html:p Many people with 5-alpha reductase deficiency are born with external genitalia db key
that appear female. In other cases, the external genitalia do not look clearly SNOMED CT 57514000
male or clearly female (sometimes called ambiguous genitalia). Still other
affected infants have genitalia that appear predominantly male, often with an
unusually small penis (micropenis) and the urethra opening on the underside of
the penis (hypospadias).
html:p During puberty, an increase in the levels of male sex hormones leads to the
development of some secondary sex characteristics, such as increased muscle
mass, deepening of the voice, development of pubic hair, and a growth spurt. The
penis and scrotum (the sac of skin that holds the testes) grow larger. Unlike
many men, people with 5-alpha reductase deficiency do not develop much facial or
body hair (low facial and body hair). Most affected individuals are unable to have biological children
without assisted reproduction (infertile).
html:p Children with 5-alpha reductase deficiency are often raised as girls. Some of
these individuals adopt a male gender role in adolescence or early adulthood,
while others adopt a female gender role.
35 5q minus syndrome https://ghr.nlm.nih.gov/condition/5q-minus-syndrome MDS affects nearly 1 in 20,000 people in the United States. It is thought html code memo related-gene gene-symbol ghr-page 5q- syndrome db key 2015-11 2017-12-29
that 5q- syndrome accounts for 15 percent of MDS cases. Unlike other forms of html:p 5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic n not inherited MIR145 https://ghr.nlm.nih.gov/gene/MIR145 chromosome 5q deletion syndrome GTR C0740302
MDS, which occur more frequently in men than women, 5q- syndrome is more than syndrome (MDS). MDS comprises a group of conditions in which immature blood related-gene gene-symbol ghr-page myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality db key
twice as common in women. cells fail to develop normally, resulting in too many immature cells and too few MIR146A https://ghr.nlm.nih.gov/gene/MIR146A myelodysplastic syndrome with 5q deletion ICD-10-CM D46.C
normal mature blood cells. In 5q- syndrome, development of red blood cells is related-gene gene-symbol ghr-page myelodysplastic syndrome with 5q deletion syndrome db key
particularly affected, leading to a shortage of these cells (anemia). In RPS14 https://ghr.nlm.nih.gov/gene/RPS14 refractory macrocytic anemia due to 5q deletion MeSH D009190
addition, the red blood cells that are present are unusually large (macrocytic). related-chromosome name ghr-page db key
Although many people with 5q- syndrome have no symptoms related to anemia, 5 https://ghr.nlm.nih.gov/chromosome/5 OMIM 153550
especially in the early stages of the condition, some affected individuals db key
develop extreme tiredness (fatigue), weakness, and an abnormally pale appearance SNOMED CT 277597005
(pallor) as the condition worsens. Individuals with 5q- syndrome also have
abnormal development of bone marrow cells called megakaryocytes, which produce
platelets, the cell fragments involved in blood clotting. A common finding in
people with 5q- syndrome is abnormal cells described as hypolobated
megakaryocytes. In addition, some individuals with 5q- syndrome have an excess
of platelets, while others have normal numbers of platelets.
html:p MDS is considered a slow-growing (chronic) blood cancer. It can progress to a
fast-growing blood cancer called acute myeloid leukemia (AML). Progression to
AML occurs less commonly in people with 5q- syndrome than in those with other
forms of MDS.
36 5q31.3 microdeletion syndrome https://ghr.nlm.nih.gov/condition/5q313-microdeletion-syndrome 5q31.3 microdeletion syndrome is a very rare disorder. At least eight html code memo related-gene gene-symbol ghr-page severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 db key 2017-08 2017-12-29
individuals with the condition have been described in the medical literature. html:p 5q31.3 microdeletion syndrome is a condition characterized by severely delayed ad autosomal dominant NRG2 https://ghr.nlm.nih.gov/gene/NRG2 microdeletion GeneReviews pura-dis
development of speech and motor skills, such as walking. Beginning in infancy, related-gene gene-symbol ghr-page db key
affected individuals also have weak muscle tone (hypotonia), feeding PURA https://ghr.nlm.nih.gov/gene/PURA MeSH D065886
difficulties, and breathing problems. Breathing problems and difficulty related-chromosome name ghr-page db key
swallowing (dysphagia) can be life-threatening. 5 https://ghr.nlm.nih.gov/chromosome/5 Orphanet 314655
html:p 5q31.3 microdeletion syndrome is also characterized by distinctive facial
features. Such features include a narrow forehead, widely spaced eyes
(hypertelorism), an open mouth with an upper lip that points outward (called a
tented lip), a high arch in the roof of the mouth (high-arched palate), a small
lower jaw (micrognathia), and a lack of facial expression. Some of these
features, such as an open mouth with a tented lip and an expressionless face,
are thought to be due to hypotonia.
html:p Recurrent seizures (epilepsy) and seizure-like episodes (which can include
muscle jerking, twitching, and stiffening), are common in 5q31.3 microdeletion
syndrome. Many individuals with 5q31.3 microdeletion syndrome have brain
abnormalities, several of which are caused by reduced production of myelin or
delayed maturation of myelin. Myelin is the protective covering that insulates
nerves and ensures the rapid transmission of nerve impulses.
37 6q24-related transient neonatal diabetes mellitus https://ghr.nlm.nih.gov/condition/6q24-related-transient-neonatal-diabetes-melli Between 1 in 215,000 and 1 in 400,000 babies are born with diabetes html code memo related-gene gene-symbol ghr-page 6q24-TNDM db key 2011-02 2017-12-29
tus mellitus. In about half of these babies, the diabetes is transient. Researchers html:p 6q24-related transient neonatal diabetes mellitus is a type of diabetes that ar autosomal recessive HYMAI https://ghr.nlm.nih.gov/gene/HYMAI TNDM type 1 GTR C1832386
estimate that approximately 70 percent of transient diabetes in newborns is occurs in infants. This form of diabetes is characterized by high blood sugar related-gene gene-symbol ghr-page transient neonatal diabetes mellitus 1 db key
caused by 6q24-related transient neonatal diabetes mellitus. levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin PLAGL1 https://ghr.nlm.nih.gov/gene/PLAGL1 GeneReviews dmtn
controls how much glucose (a type of sugar) is passed from the blood into cells related-gene gene-symbol ghr-page db key
for conversion to energy. ZFP57 https://ghr.nlm.nih.gov/gene/ZFP57 MeSH D003920
html:p People with 6q24-related transient neonatal diabetes mellitus experience very related-chromosome name ghr-page db key
slow growth before birth (severe intrauterine growth retardation). Affected 6 https://ghr.nlm.nih.gov/chromosome/6 OMIM 601410
infants have hyperglycemia and an excessive loss of fluids (dehydration), db key
usually beginning in the first week of life. Signs and symptoms of this form of Orphanet 224
diabetes are transient, which means that they gradually lessen over time and db key
generally disappear between the ages of 3 months and 18 months. Diabetes may SNOMED CT 609579009
recur, however, especially during childhood illnesses or pregnancy. Up to half
of individuals with 6q24-related transient neonatal diabetes mellitus develop
permanent diabetes mellitus later in life.
html:p Other features of 6q24-related transient neonatal diabetes mellitus that occur
in some affected individuals include an unusually large tongue (macroglossia); a
soft out-pouching around the belly-button (an umbilical hernia); malformations
of the brain, heart, or kidneys; weak muscle tone (hypotonia); deafness; and
developmental delay.
6q Terminal Deletion Syndrome
第六對染色體長臂終端缺失症候群
38 7q11.23 duplication syndrome https://ghr.nlm.nih.gov/condition/7q1123-duplication-syndrome The prevalence of this disorder is estimated to be 1 in 7,500 to 20,000 html code memo related-gene gene-symbol ghr-page 7q11.23 microduplication syndrome db key 2017-07 2017-12-29
people. html:p 7q11.23 duplication syndrome is a condition that can cause a variety of ad autosomal dominant ELN https://ghr.nlm.nih.gov/gene/ELN chromosome 7q11.23 duplication GTR C1857844
neurological and behavioral problems as well as other abnormalities. related-gene gene-symbol ghr-page chromosome 7q11.23 duplication syndrome db key
html:p People with 7q11.23 duplication syndrome typically have delayed development of GTF2I https://ghr.nlm.nih.gov/gene/GTF2I dup(7)(q11.23) GeneReviews dup7q11_23
speech and motor skills such as crawling and walking. Speech problems and related-chromosome name ghr-page Somerville-Van der Aa syndrome db key
abnormalities in the way affected individuals walk and stand may persist 7 https://ghr.nlm.nih.gov/chromosome/7 trisomy 7q11.23 MeSH D058674
throughout life. People with this condition may also have weak muscle tone WBS duplication syndrome db key
(hypotonia) and abnormal movements, such as involuntary movements of one side of Williams-Beuren region duplication syndrome OMIM 609757
the body that mirror intentional movements of the other side. About one-fifth db key
of people with 7q11.23 duplication syndrome experience seizures. Orphanet 96121
html:p Intellectual development varies widely in 7q11.23 duplication syndrome. The
majority of people with this condition have low-average to average intelligence.
Intellectual disability or borderline intellectual ability occur in about
one-third of affected individuals. Rarely, people with this disorder have
above-average intelligence.
html:p Behavioral problems associated with this condition include anxiety disorders
(such as social phobias and selective mutism, which is an inability to speak in
certain circumstances), attention deficit hyperactivity disorder (ADHD),
physical aggression, excessively defiant behavior (oppositional disorder), and
autistic behaviors that affect communication and social interaction.
html:p Approximately half of individuals with 7q11.23 duplication syndrome have
enlargement (dilatation) of the blood vessel that carries blood from the heart
to the rest of the body (the aorta); this enlargement can get worse over time.
Aortic dilatation can lead to life-threatening complications if the wall of the
aorta separates into layers (aortic dissection) or breaks open (ruptures).
html:p People with 7q11.23 duplication syndrome can have characteristic features of the
head and face, including a large head (macrocephaly) that is flattened in the
back (brachycephaly), a broad forehead, straight eyebrows, and deep-set eyes
with long eyelashes. The nose may be broad at the tip (broad nose tips) with the area separating
the nostrils attaching lower than usual on the face (low insertion of the
columella), resulting in a shortened area between the nose and the upper lip
(philtrum). A high arch in the roof of the mouth (high-arched palate) and ear
abnormalities may also occur. These features may be mild and not recognized in
some affected individuals.
39 8p11 myeloproliferative syndrome https://ghr.nlm.nih.gov/condition/8p11-myeloproliferative-syndrome The prevalence of 8p11 myeloproliferative syndrome is unknown. It is html code memo related-gene gene-symbol ghr-page 8p11 stem cell leukemia/lymphoma syndrome db key 2013-07 2017-12-29
(Blood) thought to be a rare condition. html:p 8p11 myeloproliferative syndrome is a blood cancer that involves different types n not inherited FGFR1 https://ghr.nlm.nih.gov/gene/FGFR1 8p11 stem cell syndrome GTR C3150773
(Cancer) of blood cells. Blood cells are divided into several groups (lineages) based on related-gene gene-symbol ghr-page myeloid and lymphoid neoplasms with FGFR1 abnormalities db key
the type of early cell from which they are descended. Two of these lineages are ZMYM2 https://ghr.nlm.nih.gov/gene/ZMYM2 stem cell leukemia/lymphoma MeSH D009196
myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative related-chromosome name ghr-page db key
syndrome can develop both myeloid cell cancer and lymphoid cell cancer. 8 https://ghr.nlm.nih.gov/chromosome/8 OMIM 613523
html:p The condition can occur at any age. It usually begins as a myeloproliferative related-chromosome name ghr-page db key
disorder, which is characterized by a high number of white blood cells 13 https://ghr.nlm.nih.gov/chromosome/13 Orphanet 168953
(leukocytes). Most affected individuals also have an excess of myeloid cells db key
known as eosinophils (eosinophilia). SNOMED CT 450942006
html:p In addition to a myeloproliferative disorder, many people with 8p11
myeloproliferative syndrome develop lymphoma, which is a form of blood cancer
that involves lymphoid cells. The cancerous lymphoid cells grow and divide in
lymph nodes, forming a tumor that enlarges the lymph nodes. In most cases of
8p11 myeloproliferative syndrome, the cancerous cells are lymphoid cells called
T cells. Lymphoma can develop at the same time as the myeloproliferative
disorder or later.
html:p In most people with 8p11 myeloproliferative syndrome, the myeloproliferative
disorder develops into a fast-growing blood cancer called acute myeloid
leukemia.
html:p The rapid myeloid and lymphoid cell production caused by these cancers results
in enlargement of the spleen and liver (splenomegaly and hepatomegaly,
respectively). Most people with 8p11 myeloproliferative syndrome have symptoms
such as fatigue or night sweats. Some affected individuals have no symptoms, and
the condition is discovered through routine blood tests.
40 9q22.3 microdeletion https://ghr.nlm.nih.gov/condition/9q223-microdeletion 9q22.3 microdeletion appears to be a rare chromosomal change. About three html code memo related-gene gene-symbol ghr-page 9q22 deletion syndrome db key 2017-10 2017-12-29
dozen affected individuals have been reported in the medical literature. html:p 9q22.3 microdeletion is a chromosomal change in which a small piece of ad autosomal dominant PTCH1 https://ghr.nlm.nih.gov/gene/PTCH1 9q22.3 deletion GTR C0004779
chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of related-chromosome name ghr-page microdeletion 9q22.3 syndrome db key
the chromosome in a region designated q22.3. This chromosomal change is 9 https://ghr.nlm.nih.gov/chromosome/9 GTR CN119542
associated with delayed development, intellectual disability, certain physical db key
abnormalities, and the characteristic features of a genetic condition called GeneReviews bcns
Gorlin syndrome. db key
html:p Many individuals with a 9q22.3 microdeletion have delayed development, GeneReviews mdel9q22_3
particularly affecting the development of motor skills such as sitting, db key
standing, and walking. In some people, the delays are temporary and improve in MeSH D025063
childhood. More severely affected individuals have permanent developmental db key
disabilities along with intellectual impairment and learning problems. Rarely, OMIM 109400
seizures have been reported in people with a 9q22.3 microdeletion. db key
html:p About 20 percent of people with a 9q22.3 microdeletion experience overgrowth Orphanet 77301
(macrosomia), which results in increased height and weight compared to db key
unaffected peers. The macrosomia often begins before birth and continues into SNOMED CT 711489004
childhood. Other physical changes that are sometimes associated with a 9q22.3
microdeletion include the premature fusion of certain bones in the skull
(metopic craniosynostosis) and a buildup of fluid in the brain (hydrocephalus).
Affected individuals can also have distinctive facial features such as a
prominent forehead with vertical skin creases, upward- or downward-slanting
eyes, a short nose, and a long space between the nose and upper lip (philtrum).
html:p 9q22.3 microdeletions also cause the characteristic features of Gorlin syndrome
(also known as nevoid basal cell carcinoma syndrome). This genetic condition
affects many areas of the body and increases the risk of developing various
cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of
cancer diagnosed most often is basal cell carcinoma, which is the most common
form of skin cancer. Most people with this condition also develop noncancerous
(benign) tumors of the jaw, called keratocystic odontogenic tumors, which can
cause facial swelling and tooth displacement. Other types of tumors that occur
in some people with Gorlin syndrome include a form of childhood brain cancer
called a medulloblastoma and a type of benign tumor called a fibroma that occurs
in the heart or in a woman's ovaries. Other features of Gorlin syndrome include
small depressions (pits) in the skin of the palms of the hands and soles of the
feet; an unusually large head size (macrocephaly) with a prominent forehead;
and skeletal abnormalities involving the spine, ribs, or skull.
41 Aarskog-Scott syndrome https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome Aarskog-Scott syndrome is believed to be a rare disorder; however, its html code memo related-gene gene-symbol ghr-page Aarskog syndrome db key 2017-10 2017-12-29
Aarskog-Scott氏综合症 prevalence is unknown because mildly affected people may not be diagnosed. html:p Aarskog-Scott syndrome is a genetic disorder that affects the development of ad autosomal dominant FGD1 https://ghr.nlm.nih.gov/gene/FGD1 AAS GTR C0175701
Faciogenital dysplasia; many parts of the body. This condition mainly affects males, although females code memo facio-digito-genital dysplasia db key
Aarskog syndrome; AAS may have mild features of the syndrome. ar autosomal recessive faciodigitogenital syndrome MeSH D040181
html:p People with Aarskog-Scott syndrome often have distinctive facial features, such code memo faciogenital dysplasia db key
as widely spaced eyes (hypertelorism), a small nose, a long area between the xr X-linked recessive FGDY OMIM 305400
nose and mouth (philtrum), and a widow's peak hairline. They frequently have db key
mild to moderate short stature during childhood, but their growth usually Orphanet 915
catches up with that of their peers during puberty. Hand abnormalities are db key
common in this syndrome and include short fingers (brachydactyly), curved fifth SNOMED CT 14921002
fingers (fifth finger clinodactyly), webbing of the skin between some fingers
(cutaneous syndactyly), and a single crease across the palm. Other abnormalities
in people with Aarskog-Scott syndrome include heart defects and a split in the
upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft
palate).
html:p Most males with Aarskog-Scott syndrome have a shawl scrotum, in which the
scrotum surrounds the penis instead of hanging below. Less often, they have
undescended testes (cryptorchidism) or a soft out-pouching around the
belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).
html:p The intellectual development of people with Aarskog-Scott syndrome varies
widely. Some may have mild learning and behavior problems, while others have
normal intelligence. In rare cases, severe intellectual disability has been
reported.
42 Abdominal wall defect https://ghr.nlm.nih.gov/condition/abdominal-wall-defect Abdominal wall defects are uncommon. Omphalocele affects an estimated 2 to html code memo synonym abdominal hernia db-key key 2017-12-29
2.5 in 10,000 newborns. Approximately 2 to 6 in 10,000 newborns are affected by html:p An abdominal wall defect is an opening in the abdomen through which various u pattern unknown synonym gastroschisis C0795690
gastroschisis, although researchers have observed that this malformation is abdominal organs can protrude. This opening varies in size and can usually be synonym hernia, abdominal db-key key
becoming more common. Abdominal wall defects are more common among pregnancies diagnosed early in fetal development, typically between the tenth and fourteenth synonym omphalocele Q79.2
that do not survive to term (miscarriages and stillbirths). weeks of pregnancy. There are two main types of abdominal wall defects: db-key key
omphalocele and gastroschisis. Omphalocele is an opening in the center of the Q79.3
abdominal wall where the umbilical cord meets the abdomen. Organs (typically the db-key key
intestines, stomach, and liver) protrude through the opening into the umbilical D046449
cord and are covered by the same protective membrane that covers the umbilical db-key key
cord. Gastroschisis is a defect in the abdominal wall, usually to the right of 164750
the umbilical cord, through which the large and small intestines protrude db-key key
(although other organs may sometimes bulge out). There is no membrane covering 230750
the exposed organs in gastroschisis. db-key key
html:p Fetuses with omphalocele may grow slowly before birth (intrauterine growth 310980
retardation) and they may be born prematurely. Individuals with omphalocele db-key key
frequently have multiple birth defects, such as a congenital heart defect. 660
Additionally, underdevelopment of the lungs is often associated with omphalocele db-key key
because the abdominal organs normally provide a framework for chest wall 2368
growth. When those organs are misplaced, the chest wall does not form properly, db-key key
providing a smaller than normal space for the lungs to develop. As a result, 1542009
many infants with omphalocele have respiratory insufficiency and may need to be db-key key
supported with a machine to help them breathe (mechanical ventilation). Rarely, 18735004
affected individuals who have breathing problems in infancy experience recurrent db-key key
lung infections or asthma later in life. Affected infants often have 196864001
gastrointestinal problems including a backflow of stomach acids into the db-key key
esophagus (gastroesophageal reflux) and feeding difficulty; these problems can 196868003
persist even after treatment of omphalocele. Large omphaloceles or those db-key key
associated with multiple additional health problems are more often associated 36631002
with fetal death than cases in which omphalocele occurs alone (isolated). db-key key
html:p Omphalocele is a feature of many genetic syndromes. Nearly half of individuals 72951007
with omphalocele have a condition caused by an extra copy of one of the
chromosomes in each of their cells (trisomy). Up to one-third of people born
with omphalocele have a genetic condition called Beckwith-Wiedemann syndrome Beckwith Wiedemann氏症候群.
Affected individuals may have additional signs and symptoms associated with
these genetic conditions.
html:p Individuals who have gastroschisis rarely have other birth defects and seldom
have chromosome abnormalities or a genetic condition. Most affected individuals
experience intrauterine growth retardation and are small at birth; many affected
infants are born prematurely.
html:p With gastroschisis, the protruding organs are not covered by a protective
membrane and are susceptible to damage due to direct contact with amniotic fluid
in the womb. Components of the amniotic fluid may trigger immune responses and
inflammatory reactions against the intestines that can damage the tissue.
Constriction around exposed organs at the abdominal wall opening late in fetal
development may also contribute to organ injury. Intestinal damage causes
impairment of the muscle contractions that move food through the digestive tract
(peristalsis) in most children with gastroschisis. In these individuals,
peristalsis usually improves in a few months and intestinal muscle contractions
normalize. Rarely, children with gastroschisis have a narrowing or absence of a
portion of intestine (intestinal atresia) or twisting of the intestine. After
birth, these intestinal malformations can lead to problems with digestive
function, further loss of intestinal tissue, and a condition called short bowel
syndrome that occurs when areas of the small intestine are missing, causing
dehydration and poor absorption of nutrients. Depending on the severity of the
condition, intravenous feedings (parenteral nutrition) may be required.
html:p The health of an individual with gastroschisis depends largely on how damaged
his or her intestine was before birth. When the abdominal wall defect is
repaired and normal intestinal function is recovered, the vast majority of
affected individuals have no health problems related to the repaired defect
later in life.
43 Abetalipoproteinemia https://ghr.nlm.nih.gov/condition/abetalipoproteinemia Abetalipoproteinemia is a rare disorder with approximately 100 cases html code memo related-gene gene-symbol ghr-page Abetalipoproteinemia neuropathy db key 2008-11 2017-12-29
described worldwide. html:p Abetalipoproteinemia is an inherited disorder that affects the absorption of ar autosomal recessive MTTP https://ghr.nlm.nih.gov/gene/MTTP acanthocytosis GTR C0000744
dietary fats, cholesterol, and fat-soluble vitamins. People affected by this Apolipoprotein B deficiency db key
disorder are not able to make certain lipoproteins, which are particles that Bassen-Kornzweig Syndrome ICD-10-CM E78.6
carry fats and fat-like substances (such as cholesterol) in the blood. Betalipoprotein Deficiency Disease db key
Specifically, people with abetalipoproteinemia are missing a group of Congenital betalipoprotein deficiency syndrome MeSH D000012
lipoproteins called beta-lipoproteins. An inability to make beta-lipoproteins Microsomal Triglyceride Transfer Protein Deficiency Disease db key
causes severely reduced absorption (malabsorption) of dietary fats and OMIM 200100
fat-soluble vitamins (vitamins A, D, E, and K) from the digestive tract into the db key
bloodstream. Sufficient levels of fats, cholesterol, and vitamins are Orphanet 14
necessary for normal growth, development, and maintenance of the body's cells db key
and tissues, particularly nerve cells and tissues in the eye. SNOMED CT 190787008
html:p The signs and symptoms of abetalipoproteinemia appear in the first few months of
life. They can include failure to gain weight and grow at the expected rate
(failure to thrive); diarrhea; abnormal star-shaped red blood cells
(acanthocytosis); and fatty, foul-smelling stools (steatorrhea). Other features
of this disorder may develop later in childhood and often impair the function of
the nervous system. Disturbances in nerve function may cause affected people
to eventually develop poor muscle coordination and difficulty with balance and
movement (ataxia). Individuals with this condition may also develop an eye
disorder called retinitis pigmentosa, in which progressive degeneration of the
light-sensitive layer (retina) at the back of the eye can cause vision loss.
Adults in their thirties or forties may have increasing difficulty with balance
and walking. Many of the signs and symptoms of abetalipoproteinemia result from
a severe vitamin deficiency, especially a deficiency of vitamin E.
44 ACAD9 deficiency https://ghr.nlm.nih.gov/condition/acad9-deficiency The prevalence of ACAD9 deficiency is unknown. At least 25 people with this html code memo related-gene gene-symbol ghr-page acyl-CoA dehydrogenase 9 deficiency db key 2017-04 2017-12-29
condition have been described in the scientific literature. html:p ACAD9 deficiency is a condition that varies in severity and can cause muscle ar autosomal recessive ACAD9 https://ghr.nlm.nih.gov/gene/ACAD9 deficiency of acyl-CoA dehydrogenase family member 9 GTR C1970173
weakness (myopathy), heart problems, and intellectual disability. Nearly all mitochondrial complex I deficiency due to ACAD9 deficiency db key
affected individuals have a buildup of a chemical called lactic acid in the body GeneReviews mt-overview
(lactic acidosis). Additional signs and symptoms that affect other body systems db key
occur in rare cases. MeSH D028361
html:p Mildly affected individuals with ACAD9 deficiency usually experience nausea and db key
extreme fatigue in response to physical activity (exercise intolerance). People OMIM 611126
with ACAD9 deficiency who are moderately affected have low muscle tone db key
(hypotonia) and weakness in the muscles used for movement (skeletal muscles). Orphanet 2609
Severely affected individuals have brain dysfunction combined with myopathy
(encephalomyopathy); these individuals usually also have an enlarged and
weakened heart muscle (hypertrophic cardiomyopathy), which is typically fatal in
infancy or childhood.
html:p Individuals with ACAD9 deficiency who survive past early childhood often have
intellectual disability and may develop seizures. Rare signs and symptoms of
ACAD9 deficiency include movement disorders and problems with liver and kidney
function.
html:p Some individuals with ACAD9 deficiency have had improvement in muscle strength
and a reduction in lactic acid levels with treatment.
45 Acatalasemia https://ghr.nlm.nih.gov/condition/acatalasemia More than 100 cases of acatalasemia have been reported in the medical html code memo related-gene gene-symbol ghr-page acatalasia db key 2014-09 2017-12-29
literature. Researchers estimate that the condition occurs in about 1 in 12,500 html:p Acatalasemia is a condition characterized by very low levels of an enzyme called ar autosomal recessive CAT https://ghr.nlm.nih.gov/gene/CAT catalase deficiency GTR C0268419
people in Japan, 1 in 20,000 people in Hungary, and 1 in 25,000 people in catalase. Many people with acatalasemia never have any health problems related db key
Switzerland. The prevalence of acatalasemia in other populations is unknown. to the condition and are diagnosed because they have affected family members. GTR C2936847
html:p Some of the first reported individuals with acatalasemia developed open sores db key
(ulcers) inside the mouth that led to the death of soft tissue (gangrene). When ICD-10-CM E80.3
mouth ulcers and gangrene occur with acatalasemia, the condition is known as db key
Takahara disease. These complications are rarely seen in more recent cases of MeSH D020642
acatalasemia, probably because of improvements in oral hygiene. db key
html:p Studies suggest that people with acatalasemia have an increased risk of OMIM 614097
developing type 2 diabetes, which is the most common form of diabetes. A higher db key
percentage of people with acatalasemia have type 2 diabetes than in the general Orphanet 926
population, and the disease tends to develop at an earlier age (in a person's db key
thirties or forties, on average). Researchers speculate that acatalasemia could SNOMED CT 267454002
also be a risk factor for other common, complex diseases; however, only a small
number of cases have been studied.
46 Aceruloplasminemia https://ghr.nlm.nih.gov/condition/aceruloplasminemia Aceruloplasminemia has been seen worldwide, but its overall prevalence is html code memo related-gene gene-symbol ghr-page deficiency of ferroxidase db key 2013-10 2017-12-29
原血漿銅藍蛋白缺乏症 unknown. Studies in Japan have estimated that approximately 1 in 2 million html:p Aceruloplasminemia is a disorder in which iron gradually accumulates in the ar autosomal recessive CP https://ghr.nlm.nih.gov/gene/CP familial apoceruloplasmin deficiency GTR C0878682
adults in this population are affected. brain and other organs. Iron accumulation in the brain results in neurological hereditary ceruloplasmin deficiency db key
problems that generally appear in adulthood and worsen over time. hypoceruloplasminemia GeneReviews acp
html:p People with aceruloplasminemia develop a variety of movement problems. They may systemic hemosiderosis due to aceruloplasminemia db key
experience involuntary muscle contractions (dystonia) of the head and neck, MeSH D019189
resulting in repetitive movements and contortions. Other involuntary movements db key
may also occur, such as rhythmic shaking (tremors), jerking movements (chorea), OMIM 604290
eyelid twitching (blepharospasm), and grimacing. Affected individuals may also db key
have difficulty with coordination (ataxia). Some develop psychiatric problems Orphanet 48818
and a decline of intellectual function (dementia) in their forties or fifties. db key
html:p In addition to neurological problems, affected individuals may have diabetes SNOMED CT 124224004
mellitus caused by iron damage to cells in the pancreas that make insulin, a
hormone that helps control blood sugar levels. Iron accumulation in the pancreas
reduces the cells' ability to make insulin, which impairs blood sugar
regulation and leads to the signs and symptoms of diabetes.
html:p Iron accumulation in the tissues and organs results in a corresponding shortage
(deficiency) of iron in the blood, leading to a shortage of red blood cells
(anemia). Anemia and diabetes usually occur by the time an affected person is in
his or her twenties.
html:p Affected individuals also have changes in the light-sensitive tissue at the back
of the eye (retina) caused by excess iron. The changes result in small opaque
spots and areas of tissue degeneration (atrophy) around the edges of the retina.
These abnormalities usually do not affect vision but can be observed during an
eye examination.
html:p The specific features of aceruloplasminemia and their severity may vary, even
within the same family.
47 Achondrogenesis https://ghr.nlm.nih.gov/condition/achondrogenesis Achondrogenesis types 1A and 1B are rare genetic disorders; their incidence html code memo related-gene gene-symbol ghr-page achondrogenesis syndrome db key 2015-03 2017-12-29
is unknown. Combined, achondrogenesis type 2 and hypochondrogenesis (a similar html:p Achondrogenesis is a group of severe disorders that affect cartilage and bone ad autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 GTR C0220685
skeletal disorder) occur in 1 in 40,000 to 60,000 newborns. development. These conditions are characterized by a small body, short limbs, code memo related-gene gene-symbol ghr-page db key
and other skeletal abnormalities. As a result of serious health problems, ar autosomal recessive SLC26A2 https://ghr.nlm.nih.gov/gene/SLC26A2 GTR C0265273
infants with achondrogenesis usually die before birth, are stillborn, or die related-gene gene-symbol ghr-page db key
soon after birth from respiratory failure. However, some infants have lived for TRIP11 https://ghr.nlm.nih.gov/gene/TRIP11 GTR C0265274
a short time with intensive medical support. db key
html:p Researchers have described at least three forms of achondrogenesis, designated GeneReviews achon1b
as type 1A, type 1B, and type 2. The types are distinguished by their signs and db key
symptoms, inheritance pattern, and genetic cause. However, types 1A and 1B are ICD-10-CM Q77.0
often hard to tell apart without genetic testing. db key
html:p Achondrogenesis type 1A, which is also called the Houston-Harris type, is the MeSH D010009
least well understood of the three forms. Affected infants have extremely short db key
limbs, a narrow chest, short ribs that fracture easily, and a lack of normal OMIM 200600
bone formation (ossification) in the skull, spine, and pelvis. db key
html:p Achondrogenesis type 1B, also known as the Parenti-Fraccaro type, is OMIM 200610
characterized by extremely short limbs, a narrow chest, and a prominent, rounded db key
abdomen. The fingers and toes are short and the feet may turn inward and upward OMIM 600972
(clubfeet). Affected infants frequently have a soft out-pouching around the db key
belly-button (an umbilical hernia) or near the groin (an inguinal hernia). Orphanet 932
html:p Infants with achondrogenesis type 2, which is sometimes called the db key
Langer-Saldino type, have short arms and legs, a narrow chest with short ribs, Orphanet 93296
and underdeveloped lungs. This condition is also associated with a lack of db key
ossification in the spine and pelvis. Distinctive facial features include a Orphanet 93298
prominent forehead, a small chin, and, in some cases, an opening in the roof of db key
the mouth (a cleft palate). The abdomen is enlarged, and affected infants often Orphanet 93299
have a condition called hydrops fetalis, in which excess fluid builds up in the db key
body before birth. SNOMED CT 14870002
db key
SNOMED CT 2391001
db key
SNOMED CT 254061001
48 Achondroplasia https://ghr.nlm.nih.gov/condition/achondroplasia Achondroplasia is the most common type of short-limbed dwarfism. The html code memo related-gene gene-symbol ghr-page ACH db key 2012-05 2017-12-29
軟骨發育不全 condition occurs in 1 in 15,000 to 40,000 newborns. html:p Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia ad autosomal dominant FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 achondroplastic dwarfism GTR C0001080
literally means "without cartilage formation." Cartilage is a tough but flexible dwarf, achondroplastic db key
tissue that makes up much of the skeleton during early development. However, in GeneReviews achondroplasia
achondroplasia the problem is not in forming cartilage but in converting it to db key
bone (a process called ossification), particularly in the long bones of the arms ICD-10-CM Q77.4
and legs. Achondroplasia is similar to another skeletal disorder called db key
hypochondroplasia, but the features of achondroplasia tend to be more severe. MeSH D000130
html:p All people with achondroplasia have short stature. The average height of an db key
adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the OMIM 100800
average height for adult females is 124 centimeters (4 feet, 1 inch). db key
Characteristic features of achondroplasia include an average-size trunk, short Orphanet 15
arms and legs with particularly short upper arms and thighs, limited range of db key
motion at the elbows, and an enlarged head (macrocephaly) with a prominent SNOMED CT 86268005
forehead. Fingers are typically short and the ring finger and middle finger may
diverge, giving the hand a three-pronged (trident) appearance. People with
achondroplasia are generally of normal intelligence.
html:p Health problems commonly associated with achondroplasia include episodes in
which breathing slows or stops for short periods (apnea), obesity, and recurrent
ear infections. In childhood, individuals with the condition usually develop a
pronounced and permanent sway of the lower back (lordosis) and bowed legs. Some
affected people also develop abnormal front-to-back curvature of the spine
(kyphosis) and back pain. A potentially serious complication of achondroplasia
is spinal stenosis, which is a narrowing of the spinal canal that can pinch
(compress) the upper part of the spinal cord. Spinal stenosis is associated with
pain, tingling, and weakness in the legs that can cause difficulty with
walking. Another uncommon but serious complication of achondroplasia is
hydrocephalus, which is a buildup of fluid in the brain in affected children
that can lead to increased head size and related brain abnormalities.
49 Achromatopsia,ACHM https://ghr.nlm.nih.gov/condition/achromatopsia Achromatopsia affects an estimated 1 in 30,000 people worldwide. Complete html code memo related-gene gene-symbol ghr-page achromatism db key 2015-01 2017-12-29
色彩感應失能症 achromatopsia is more common than incomplete achromatopsia.Complete html:p Achromatopsia is a condition characterized by a partial or total absence of ar autosomal recessive CNGA3 https://ghr.nlm.nih.gov/gene/CNGA3 rod monochromatism GTR C0152200
achromatopsia occurs frequently among Pingelapese islanders, who live on one of color vision. People with complete achromatopsia cannot perceive any colors; related-gene gene-symbol ghr-page total color blindness db key
the Eastern Caroline Islands of Micronesia. Between 4 and 10 percent of people they see only black, white, and shades of gray. Incomplete achromatopsia is a CNGB3 https://ghr.nlm.nih.gov/gene/CNGB3 GTR C1841721
in this population have a total absence of color vision. milder form of the condition that allows some color discrimination. related-gene gene-symbol ghr-page db key
html:p Achromatopsia also involves other problems with vision, including an increased GNAT2 https://ghr.nlm.nih.gov/gene/GNAT2 GTR C1849792
sensitivity to light and glare (photophobia), involuntary back-and-forth eye related-gene gene-symbol ghr-page db key
movements (nystagmus), and significantly reduced sharpness of vision (low visual PDE6C https://ghr.nlm.nih.gov/gene/PDE6C GTR C1857618
acuity). Affected individuals can also have farsightedness (hyperopia) or, less related-gene gene-symbol ghr-page db key
commonly, nearsightedness (myopia). These vision problems develop in the first PDE6H https://ghr.nlm.nih.gov/gene/PDE6H GTR C2751309
few months of life. db key
html:p Achromatopsia is different from the more common forms of color vision deficiency GTR CN158542
(also called color blindness), in which people can perceive color but have db key
difficulty distinguishing between certain colors, such as red and green. GeneReviews achm
db key
ICD-10-CM H53.51
db key
MeSH D003117
db key
OMIM 216900
db key
OMIM 262300
db key
OMIM 610024
db key
OMIM 613093
db key
OMIM 613856
db key
Orphanet 49382
db key
SNOMED CT 56852002
50 Acral peeling skin syndrome https://ghr.nlm.nih.gov/condition/acral-peeling-skin-syndrome Acral peeling skin syndrome is a rare condition, with several dozen cases html code memo related-gene gene-symbol ghr-page APSS db key 2014-04 2017-12-29
reported in the medical literature. However, because its signs and symptoms tend html:p Acral peeling skin syndrome is a skin disorder characterized by painless peeling ar autosomal recessive TGM5 https://ghr.nlm.nih.gov/gene/TGM5 peeling skin syndrome, acral type GTR C1853354
to be mild and similar to those of other skin disorders, the condition is of the top layer of skin. The term "acral" refers to the fact that the skin db key
likely underdiagnosed. peeling in this condition is most apparent on the hands and feet. Occasionally, MeSH D003873
peeling also occurs on the arms and legs. The peeling is usually evident from db key
birth, although the condition can also begin in childhood or later in life. Skin OMIM 609796
peeling is made worse by exposure to heat, humidity and other forms of db key
moisture, and friction. The underlying skin may be temporarily red and itchy, Orphanet 263534
but it typically heals without scarring. Acral peeling skin syndrome is not db key
associated with any other health problems. SNOMED CT 709416009
51 Acrocallosal syndrome https://ghr.nlm.nih.gov/condition/acrocallosal-syndrome This condition appears to be rare. Only a few dozen cases have been html code memo related-gene gene-symbol ghr-page ACLS db key 2017-01 2017-12-29
reported in the medical literature. html:p Acrocallosal syndrome is a rare condition characterized by a brain abnormality ad autosomal dominant GLI3 https://ghr.nlm.nih.gov/gene/GLI3 hallux duplication, postaxial polydactyly, and absence of corpus callosum GTR C0796147
called agenesis of the corpus callosum, the presence of extra fingers and toes code memo related-gene gene-symbol ghr-page Schinzel acrocallosal syndrome db key
(polydactyly), and distinctive facial features. The signs and symptoms of this ar autosomal recessive KIF7 https://ghr.nlm.nih.gov/gene/KIF7 Schinzel syndrome 1 MeSH D055673
disorder are present at birth, and their severity varies widely among affected db key
individuals. OMIM 200990
html:p Agenesis of the corpus callosum occurs when the tissue that connects the left db key
and right halves of the brain (the corpus callosum) fails to form normally Orphanet 36
during the early stages of development before birth. Other brain abnormalities, db key
including the growth of large cysts in brain tissue, have also been reported in SNOMED CT 715951007
people with acrocallosal syndrome. The changes in brain structure associated
with this condition lead to delayed development and intellectual disability,
which is most often moderate to severe. Some affected individuals also
experience seizures.
html:p Extra fingers and toes are common in people with acrocallosal syndrome. The
extra digits can be on the same side of the hand or foot as the pinky or little
toe (postaxial polydactyly) or on the same side as the thumb or great toe
(preaxial polydactyly). Some affected individuals also have webbed or fused skin
between the fingers or toes (syndactyly).
html:p Distinctive facial features that can occur with acrocallosal syndrome include
widely spaced eyes (hypertelorism) and a high, prominent forehead. Many affected
individuals also have an unusually large head size (macrocephaly).
52 Acromicric dysplasia https://ghr.nlm.nih.gov/condition/acromicric-dysplasia Acromicric dysplasia is a rare disorder; its prevalence is unknown. html code memo related-gene gene-symbol ghr-page ACMICD db key 2014-12 2017-12-29
html:p Acromicric dysplasia is a condition characterized by severely short stature, ad autosomal dominant FBN1 https://ghr.nlm.nih.gov/gene/FBN1 GTR C0265287
short limbs, stiff joints, and distinctive facial features. db key
html:p Newborns with acromicric dysplasia are of normal size, but slow growth over time MeSH D010009
results in short stature. The average height of adults with this disorder is db key
about 4 feet, 2 inches for women and 4 feet, 5 inches for men. The long bones of OMIM 102370
the arms and legs, and the bones in the hands and feet, are shorter than would db key
be expected for the individual's height. Other skeletal features that occur in Orphanet 969
this disorder include slowed mineralization of bone (delayed bone age), db key
abnormally shaped bones of the spine (vertebrae), and constrained movement of SNOMED CT 254090007
joints. Affected individuals often develop carpal tunnel syndrome, which is
characterized by numbness, tingling, and weakness in the hands and fingers. A
misalignment of the hip joints (hip dysplasia) can also occur in this disorder.
These skeletal and joint problems may require treatment, but most affected
individuals have few limitations in their activities.
html:p Children with acromicric dysplasia may have a round face, sharply defined
eyebrows, long eyelashes, a bulbous nose with upturned nostrils, a long space
between the nose and upper lip (philtrum), and a small mouth with thick lips.
These facial differences become less apparent in adulthood. Intelligence is
unaffected in this disorder, and life expectancy is generally normal.
53 Actin-accumulation myopathy https://ghr.nlm.nih.gov/condition/actin-accumulation-myopathy Actin-accumulation myopathy is a rare disorder that has been identified in html code memo related-gene gene-symbol ghr-page actin filament aggregate myopathy db key 2012-04 2017-12-29
only a small number of individuals. Its exact prevalence is unknown. html:p Actin-accumulation myopathy is a disorder that primarily affects skeletal ad autosomal dominant ACTA1 https://ghr.nlm.nih.gov/gene/ACTA1 actin myopathy GTR C1834336
muscles, which are muscles that the body uses for movement. People with code memo congenital myopathy (先天性肌肉病變) with excess of thin filaments db key
actin-accumulation myopathy have severe muscle weakness (myopathy) and poor n not inherited nemaline myopathy 3 MeSH D017696
muscle tone (hypotonia) throughout the body. Signs and symptoms of this db key
condition are apparent in infancy and include feeding and swallowing OMIM 161800
difficulties, a weak cry, and difficulty with controlling head movements. db key
Affected babies are sometimes described as "floppy" and may be unable to move on SNOMED CT 702349003
their own.
html:p The severe muscle weakness that occurs in actin-accumulation myopathy also
affects the muscles used for breathing. Individuals with this disorder may take
shallow breaths (hypoventilate), especially during sleep, resulting in a
shortage of oxygen and a buildup of carbon dioxide in the blood. Frequent
respiratory infections and life-threatening breathing difficulties can occur.
Because of the respiratory problems, most affected individuals do not survive
past infancy. Those who do survive have delayed development of motor skills such
as sitting, crawling, standing, and walking.
html:p The name actin-accumulation myopathy derives from characteristic accumulations
in muscle cells of filaments composed of a protein called actin. These filaments
can be seen when muscle tissue is viewed under a microscope.
54 Action myoclonus–renal failure syndrome https://ghr.nlm.nih.gov/condition/action-myoclonus-renal-failure-syndrome AMRF syndrome is a rare condition that has been found worldwide. Its exact html code memo related-gene gene-symbol ghr-page action myoclonus-renal failure syndrome db key 2016-06 2017-12-29
prevalence is unknown. At least 38 individuals with the condition have been html:p Action myoclonus–renal failure (AMRF) syndrome causes episodes of involuntary ar autosomal recessive SCARB2 https://ghr.nlm.nih.gov/gene/SCARB2 action myoclonus–renal failure syndrome GTR C0751779
described in the medical literature. muscle jerking or twitching (myoclonus) and, often, kidney (renal) disease. AMRF db key
Although the condition name refers to kidney disease, not everyone with the epilepsy, progressive myoclonic 4, with or without renal failure GeneReviews amrf
condition has problems with kidney function. EPM4 db key
html:p The movement problems associated with AMRF syndrome typically begin with familial myoclonus with renal failure MeSH D020191
involuntary rhythmic shaking (tremor) in the fingers and hands that occurs at myoclonus-nephropathy syndrome db key
rest and is most noticeable when trying to make small movements, such as progressive myoclonus epilepsy with renal failure OMIM 254900
writing. Over time, tremors can affect other parts of the body, such as the db key
head, torso, legs, and tongue. Eventually, the tremors worsen to become Orphanet 163696
myoclonic jerks, which can be triggered by voluntary movements or the intention
to move (action myoclonus). These myoclonic jerks typically occur in the torso;
upper and lower limbs; and face, particularly the muscles around the mouth and
the eyelids. Anxiety, excitement, stress, or extreme tiredness (fatigue) can
worsen the myoclonus. Some affected individuals develop seizures, a loss of
sensation and weakness in the limbs (peripheral neuropathy), or hearing loss
caused by abnormalities in the inner ear (sensorineural hearing loss). Severe
seizures or myoclonus can be life-threatening.
html:p When kidney problems occur, an early sign is excess protein in the urine
(proteinuria). Kidney function worsens over time, until the kidneys are no
longer able to filter fluids and waste products from the body effectively
(end-stage renal disease).
html:p AMRF syndrome typically begins causing symptoms between ages 15 and 25, but it
can appear at younger or older ages. The age of onset and the course of the
condition vary, even among members of the same family. Either the movement
problems or kidney disease can occur first, or they can begin at the same time.
Most people survive 7 to 15 years after the symptoms appear.
55 Activated PI3K-delta syndrome https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome The prevalence of activated PI3K-delta syndrome is unknown. html code memo related-gene gene-symbol ghr-page APDS db key 2014-07 2017-12-29
html:p Activated PI3K-delta syndrome is a disorder that impairs the immune system. ad autosomal dominant PIK3CD https://ghr.nlm.nih.gov/gene/PIK3CD immunodeficiency 14 GTR C3714976
Individuals with this condition often have low numbers of white blood cells p110δ-activating mutation causing senescent T cells, lymphadenopathy, and db key
(lymphopenia), particularly B cells and T cells. Normally, these cells recognize immunodeficiency MeSH D007153
and attack foreign invaders, such as viruses and bacteria, to prevent PASLI db key
infection. Beginning in childhood, people with activated PI3K-delta syndrome OMIM 615513
develop recurrent infections, particularly in the lungs, sinuses, and ears. Over db key
time, recurrent respiratory tract infections can lead to a condition called SNOMED CT 711480000
bronchiectasis, which damages the passages leading from the windpipe to the
lungs (bronchi) and can cause breathing problems. People with activated
PI3K-delta syndrome may also have chronic active viral infections, commonly
Epstein-Barr virus or cytomegalovirus infections.
html:p Another possible feature of activated PI3K-delta syndrome is abnormal clumping
of white blood cells. These clumps can lead to enlarged lymph nodes
(lymphadenopathy), or the white blood cells can build up to form solid masses
(nodular lymphoid hyperplasia), usually in the moist lining of the airways or
intestines. While lymphadenopathy and nodular lymphoid hyperplasia are
noncancerous (benign), activated PI3K-delta syndrome also increases the risk of
developing a form of cancer called B-cell lymphoma.
56 Acute necrotizing encephalopathy type 1 https://ghr.nlm.nih.gov/condition/acute-necrotizing-encephalopathy-type-1 Acute necrotizing encephalopathy type 1 is likely a very rare condition, html code memo related-gene gene-symbol ghr-page acute necrotizing encephalitis db key 2016-07 2017-12-29
although its incidence is unknown. At least 59 cases of this condition have been html:p Acute necrotizing encephalopathy type 1, also known as susceptibility to ad autosomal dominant RANBP2 https://ghr.nlm.nih.gov/gene/RANBP2 ADANE GTR CN236791
reported in the scientific literature. infection-induced acute encephalopathy 3 or IIAE3, is a rare type of brain ANE1 db key
disease (encephalopathy) that occurs following a viral infection such as the autosomal dominant acute necrotizing encephalopathy GeneReviews iiae3
flu. IIAE3 db key
html:p Acute necrotizing encephalopathy type 1 typically appears in infancy or early postinfectious acute necrotizing hemorrhagic encephalopathy ICD-10-CM G04.31
childhood, although some people do not develop the condition until adolescence susceptibility to acute necrotizing encephalopathy db key
or adulthood. People with this condition usually show typical symptoms of an susceptibility to infection-induced acute encephalopathy MeSH D001930
infection, such as fever, cough, congestion, vomiting, and diarrhea, for a few susceptibility to infection-induced acute encephalopathy 3 db key
days. Following these flu-like symptoms, affected individuals develop OMIM 608033
neurological problems, such as seizures, hallucinations, difficulty coordinating db key
movements (ataxia), or abnormal muscle tone. Eventually, most affected Orphanet 263524
individuals go into a coma, which usually lasts for a number of weeks. The db key
condition is described as "acute" because the episodes of illness are SNOMED CT 111897007
time-limited.
html:p People with acute necrotizing encephalopathy type 1 develop areas of damage
(lesions) in certain regions of the brain. As the condition progresses, these
brain regions develop swelling (edema), bleeding (hemorrhage), and then tissue
death (necrosis). The progressive brain damage and tissue loss results in
encephalopathy.
html:p Approximately one-third of individuals with acute necrotizing encephalopathy
type 1 do not survive their illness and subsequent neurological decline. Of
those who do survive, about half have permanent brain damage due to tissue
necrosis, resulting in impairments in walking, speech, and other basic
functions. Over time, many of these skills may be regained, but the loss of
brain tissue is permanent. Other individuals who survive their illness appear to
recover completely.
html:p It is estimated that half of individuals with acute necrotizing encephalopathy
type 1 are susceptible to recurrent episodes and will have another infection
that results in neurological decline; some people may have numerous episodes
throughout their lives. Neurological function worsens following each episode as
more brain tissue is damaged.
57 Acute promyelocytic leukemia https://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia Acute promyelocytic leukemia accounts for about 10 percent of acute myeloid html code memo related-gene gene-symbol ghr-page AML M3 db key 2011-04 2017-12-29
leukemia cases. Acute promyelocytic leukemia occurs in approximately 1 in html:p Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of n not inherited NPM1 https://ghr.nlm.nih.gov/gene/NPM1 APL GTR C0023487
250,000 people in the United States. the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic related-gene gene-symbol ghr-page leukemia, acute promyelocytic db key
stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood NUMA1 https://ghr.nlm.nih.gov/gene/NUMA1 M3 ANLL ICD-10-CM C92.4
cells (leukocytes) that protect the body from infection, and platelets related-gene gene-symbol ghr-page myeloid leukemia, acute, M3 db key
(thrombocytes) that are involved in blood clotting. In acute promyelocytic PML https://ghr.nlm.nih.gov/gene/PML ICD-10-CM C92.40
leukemia, immature white blood cells called promyelocytes accumulate in the bone related-gene gene-symbol ghr-page db key
marrow. The overgrowth of promyelocytes leads to a shortage of normal white and RARA https://ghr.nlm.nih.gov/gene/RARA ICD-10-CM C92.41
red blood cells and platelets in the body, which causes many of the signs and related-gene gene-symbol ghr-page db key
symptoms of the condition. STAT5B https://ghr.nlm.nih.gov/gene/STAT5B ICD-10-CM C92.42
html:p People with acute promyelocytic leukemia are especially susceptible to related-gene gene-symbol ghr-page db key
developing bruises, small red dots under the skin (petechiae), nosebleeds, ZBTB16 https://ghr.nlm.nih.gov/gene/ZBTB16 MeSH D015473
bleeding from the gums, blood in the urine (hematuria), or excessive menstrual related-chromosome name ghr-page db key
bleeding. The abnormal bleeding and bruising occur in part because of the low 15 https://ghr.nlm.nih.gov/chromosome/15 OMIM 612376
number of platelets in the blood (thrombocytopenia) and also because the related-chromosome name ghr-page db key
cancerous cells release substances that cause excessive bleeding. 17 https://ghr.nlm.nih.gov/chromosome/17 Orphanet 520
html:p The low number of red blood cells (anemia) can cause people with acute db key
promyelocytic leukemia to have pale skin (pallor) or excessive tiredness SNOMED CT 110004001
(fatigue). In addition, affected individuals may heal slowly from injuries or db key
have frequent infections due to the loss of normal white blood cells that fight SNOMED CT 28950004
infection. Furthermore, the leukemic cells can spread to the bones and joints,
which may cause pain in those areas. Other general signs and symptoms may occur
as well, such as fever, loss of appetite, and weight loss.
html:p Acute promyelocytic leukemia is most often diagnosed around age 40, although it
can be diagnosed at any age.
58 Adams-Oliver syndrome https://ghr.nlm.nih.gov/condition/adams-oliver-syndrome Adams-Oliver syndrome is a rare disorder; its prevalence is unknown. html code memo related-gene gene-symbol ghr-page absence defect of limbs, scalp, and skull db key 2015-11 2017-12-29
html:p Adams-Oliver syndrome is a rare condition that is present at birth. The primary ad autosomal dominant ARHGAP31 https://ghr.nlm.nih.gov/gene/ARHGAP31 AOS GTR C0265268
features are an abnormality in skin development (called aplasia cutis congenita) code memo related-gene gene-symbol ghr-page aplasia cutis congenita with terminal transverse limb defects db key
and malformations of the limbs. A variety of other features can occur in people ar autosomal recessive DLL4 https://ghr.nlm.nih.gov/gene/DLL4 congenital scalp defects with distal limb reduction anomalies GTR C3280182
with Adams-Oliver syndrome. related-gene gene-symbol ghr-page db key
html:p Most people with Adams-Oliver syndrome have aplasia cutis congenita, a DOCK6 https://ghr.nlm.nih.gov/gene/DOCK6 GTR C3553748
condition characterized by localized areas of missing skin typically occurring related-gene gene-symbol ghr-page db key
on the top of the head (the skull vertex). In some cases, the bone under the EOGT https://ghr.nlm.nih.gov/gene/EOGT GTR C3809092
skin is also underdeveloped. Individuals with this condition commonly have related-gene gene-symbol ghr-page db key
scarring and an absence of hair growth in the affected area. NOTCH1 https://ghr.nlm.nih.gov/gene/NOTCH1 GTR C4014970
html:p Abnormalities of the hands and feet are also common in people with Adams-Oliver related-gene gene-symbol ghr-page db key
syndrome. These most often involve the fingers and toes and can include abnormal RBPJ https://ghr.nlm.nih.gov/gene/RBPJ GTR C4225271
nails, fingers or toes that are fused together (syndactyly), and abnormally db key
short fingers or toes or missing fingers or toes (brachydactyly or oligodactyly). In some cases, GTR CN028867
other bones in the hands, feet, or lower limbs are malformed or missing. db key
html:p Some affected infants have a condition called cutis marmorata telangiectatica GeneReviews adams-oliver
congenita. This disorder of the blood vessels causes a reddish or purplish db key
net-like pattern on the skin. In addition, people with Adams-Oliver syndrome can MeSH D004476
develop high blood pressure in the blood vessels between the heart and the db key
lungs (pulmonary hypertension), which can be life-threatening. Other blood OMIM 100300
vessel problems and heart defects can occur in affected individuals. db key
html:p In some cases, people with Adams-Oliver syndrome have neurological problems, OMIM 614219
such as developmental delay, learning disabilities, or abnormalities in the db key
structure of the brain. OMIM 614814
db key
OMIM 615297
db key
OMIM 616028
db key
OMIM 616589
db key
Orphanet 974
db key
SNOMED CT 34748004
59 ADCY5-related dyskinesia https://ghr.nlm.nih.gov/condition/adcy5-related-dyskinesia At least 400 people have been diagnosed with ADCY5-related dyskinesia, but html inheritance-pattern code memo gene-symbol synonym familial dyskinesia with facial myokymia db-key db key 2017-08 2017-12-29
its prevalence is unknown. The disorder is thought to be underdiagnosed because html:p html:i ad autosomal dominant ADCY5 synonym FDFM GTR C1847627
its features can resemble those of other conditions such as cerebral palsy or ADCY5 -related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, db-key db key
epilepsy. tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can GeneReviews adcy5-dysk
affect the limbs, neck, and face. db-key db key
html:p html:i MeSH D020820
ADCY5 db-key db key
OMIM 606703
db-key db key
html:p Severely affected infants may experience weak muscle tone (hypotonia) and delay Orphanet 324588
in development of motor skills such as crawling and walking; later, these db-key db key
individuals may have difficulties with activities of daily living and may SNOMED CT 9748009
eventually require a wheelchair. In more mildly affected individuals, the
condition has little impact on walking and other motor skills, although the
abnormal movements can lead to clumsiness or difficulty with social acceptance
in school or other situations.
html:p html:i
ADCY5
-related dyskinesia, while some affected individuals may experience remission
periods of days or weeks without abnormal movements. Life expectancy is not
html:i -related dyskinesia, and most people with this condition have normal
ADCY5 intelligence.
60 Adenine phosphoribosyltransferase deficiency https://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency APRT deficiency is estimated to affect 1 in 27,000 people in Japan. The html code memo related-gene gene-symbol ghr-page 2,8-dihydroxyadenine urolithiasis db key 2012-10 2017-12-29
condition is rarer in Europe, where it is thought to affect 1 in 50,000 to html:p Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition ar autosomal recessive APRT https://ghr.nlm.nih.gov/gene/APRT 2,8-dihydroxyadeninuria GTR C0268120
100,000 people. The prevalence of APRT deficiency outside these populations is that affects the kidneys and urinary tract. The most common feature of this APRT deficiency db key
unknown. condition is recurrent kidney stones; urinary tract stones are also a frequent DHA crystalline nephropathy GeneReviews aprt-def
symptom. Kidney and urinary tract stones can create blockages in the urinary db key
tract, causing pain during urination and difficulty releasing urine. MeSH D011686
html:p Affected individuals can develop features of this condition anytime from infancy db key
to late adulthood. When the condition appears in infancy, the first sign is OMIM 614723
usually the presence of tiny grains of reddish-brown material in the baby's db key
diaper caused by the passing of stones. Later, recurrent kidney and urinary Orphanet 976
tract stones can lead to problems with kidney function beginning as early as db key
mid- to late childhood. Approximately half of individuals with APRT deficiency SNOMED CT 124274002
first experience signs and symptoms of the condition in adulthood. The first db key
features in affected adults are usually kidney stones and related urinary SNOMED CT 238009001
problems. Other signs and symptoms of APRT deficiency caused by kidney and db key
urinary tract stones include fever, urinary tract infection, blood in the urine SNOMED CT 238010006
(hematuria), abdominal cramps, nausea, and vomiting. db key
html:p Without treatment, kidney function can decline, which may lead to end-stage SNOMED CT 65791008
renal disease (ESRD). ESRD is a life-threatening failure of kidney function that
occurs when the kidneys are no longer able to filter fluids and waste products
from the body effectively.
html:p The features of this condition and their severity vary greatly among affected
individuals, even among members of the same family. It is estimated that 15 to
20 percent of people with APRT deficiency do not have any signs or symptoms of
the condition.
61 Adenosine deaminase 2 deficiency https://ghr.nlm.nih.gov/condition/adenosine-deaminase-2-deficiency Only a few dozen individuals with ADA2 deficiency have been described in html code memo related-gene gene-symbol ghr-page ADA2 deficiency db key 2015-01 2017-12-29
the medical literature. However, researchers suspect that it may not be a rare html:p Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal ar autosomal recessive ADA2 https://ghr.nlm.nih.gov/gene/ADA2 childhood-onset polyarteritis nodosa GTR C0282492
disease. They are working to determine whether ADA2 deficiency could underlie inflammation of various tissues, particularly the blood vessels (vasculitis). DADA2 db key
other, more common forms of vasculitis and stroke whose causes are currently Signs and symptoms can begin anytime from early childhood to adulthood. The deficiency of ADA2 GTR C3887654
unknown. severity of the disorder also varies, even among affected individuals in the Sneddon syndrome db key
same family. ICD-10-CM M30.0
html:p Inflammation is a normal immune system response to injury and foreign invaders db key
(such as bacteria). However, the uncontrolled inflammation that occurs in ADA2 MeSH D056647
deficiency can damage many of the body's tissues and organs, including the skin, db key
gastrointestinal system, kidneys, and nervous system. Depending on the severity OMIM 182410
and location of the inflammation, the disorder can cause disability or be db key
life-threatening. Features that have been described in people with ADA2 OMIM 615688
deficiency include fevers that are intermittent, meaning they come and go; areas db key
of net-like, mottled skin discoloration called livedo racemosa; an enlarged Orphanet 820
liver and spleen (hepatosplenomegaly); and recurrent strokes affecting db key
structures deep in the brain that can start in the first few years of life. ADA2 Orphanet 404553
deficiency causes mild immune system abnormalities in some individuals, but it db key
is usually not associated with a significantly increased risk of bacterial and SNOMED CT 155441006
viral infections.
html:p ADA2 deficiency is sometimes described as a form of polyarteritis nodosa (PAN),
a disorder that causes inflammation of blood vessels throughout the body
(systemic vasculitis). However, not all researchers classify ADA2 deficiency as
a type of PAN.
62 Adenosine deaminase deficiency https://ghr.nlm.nih.gov/condition/adenosine-deaminase-deficiency Adenosine deaminase deficiency is very rare and is estimated to occur in html code memo related-gene gene-symbol ghr-page ADA deficiency db key 2013-07 2017-12-29
approximately 1 in 200,000 to 1,000,000 newborns worldwide. This disorder is html:p Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the ar autosomal recessive ADA https://ghr.nlm.nih.gov/gene/ADA ADA-SCID GTR C1863236
responsible for approximately 15 percent of SCID cases. immune system and causes severe combined immunodeficiency (SCID). People with adenosine deaminase deficient severe combined immunodeficiency db key
SCID lack virtually all immune protection from bacteria, viruses, and fungi. SCID due to ADA deficiency GeneReviews ada
They are prone to repeated and persistent infections that can be very serious or severe combined immunodeficiency due to ADA deficiency db key
life-threatening. These infections are often caused by "opportunistic" severe combined immunodeficiency, autosomal recessive, T cell-negative, B ICD-10-CM D81.3
organisms that ordinarily do not cause illness in people with a normal immune cell-negative, NK cell-negative, due to adenosine deaminase deficiency db key
system. MeSH D016511
html:p The main symptoms of ADA deficiency are pneumonia, chronic diarrhea, and db key
widespread skin rashes. Affected children also grow much more slowly than OMIM 102700
healthy children and some have developmental delay. db key
html:p Most individuals with ADA deficiency are diagnosed with SCID in the first 6 Orphanet 277
months of life. Without treatment, these babies usually do not survive past age db key
2. In about 10 percent to 15 percent of cases, onset of immune deficiency is SNOMED CT 44940001
delayed to between 6 and 24 months of age (delayed onset) or even until
adulthood (late onset). Immune deficiency in these later-onset cases tends to be
less severe, causing primarily recurrent upper respiratory and ear infections.
Over time, affected individuals may develop chronic lung damage, malnutrition,
and other health problems.
63 Adenosine monophosphate deaminase deficiency https://ghr.nlm.nih.gov/condition/adenosine-monophosphate-deaminase-deficiency AMP deaminase deficiency is one of the most common inherited muscle html code memo related-gene gene-symbol ghr-page AMP deaminase deficiency db key 2016-07 2017-12-29
disorders in white populations, affecting 1 in 50 to 100 people. The prevalence html:p Adenosine monophosphate (AMP) deaminase deficiency is a condition that can ar autosomal recessive AMPD1 https://ghr.nlm.nih.gov/gene/AMPD1 exercise-induced myopathy GTR C0268123
is lower in African Americans, affecting an estimated 1 in 40,000 people, and affect the muscles used for movement (skeletal muscles). In many affected MAD deficiency db key
the condition is even less common in the Japanese population. individuals, AMP deaminase deficiency does not cause any symptoms. People who do MADA deficiency ICD-10-CM E79.2
experience symptoms typically have fatigue, muscle pain (myalgia), or cramps muscle AMP deaminase deficiency db key
after exercise or prolonged physical activity (exercise intolerance). Following myoadenylate deaminase deficiency MeSH D011686
strenuous activity, they often get tired more quickly and stay tired longer than db key
would normally be expected. In rare cases, affected individuals have more OMIM 615511
severe symptoms including severe muscle weakness, low muscle tone (hypotonia), db key
and muscle wasting (atrophy), but it is unclear whether these symptoms are due Orphanet 45
solely to AMP deaminase deficiency or additional health conditions. Exercise db key
intolerance associated with AMP deaminase deficiency usually becomes apparent in SNOMED CT 124525004
childhood or early adulthood. db key
SNOMED CT 9105005
64 Adenylosuccinate lyase deficiency https://ghr.nlm.nih.gov/condition/adenylosuccinate-lyase-deficiency Adenylosuccinate lyase deficiency is a rare disorder; fewer than 100 cases html code memo related-gene gene-symbol ghr-page adenylosuccinase deficiency db key 2014-12 2017-12-29
have been reported. The condition is most common in the Netherlands and Belgium, html:p Adenylosuccinate lyase deficiency is a neurological disorder that causes brain ar autosomal recessive ADSL https://ghr.nlm.nih.gov/gene/ADSL ADSL deficiency GTR C0268126
but it has been found worldwide. dysfunction (encephalopathy) leading to delayed development of mental and succinylpurinemic autism db key
movement abilities (psychomotor delay), autistic behaviors that affect MeSH D011686
communication and social interaction, and seizures. A characteristic feature db key
that can help with diagnosis of this condition is the presence of chemicals OMIM 103050
called succinylaminoimidazole carboxamide riboside (SAICAr) and db key
succinyladenosine (S-Ado) in body fluids. Orphanet 46
html:p Adenylosuccinate lyase deficiency is classified into three forms based on the db key
severity of the signs and symptoms. The most severe is the neonatal form. Signs SNOMED CT 15285008
and symptoms of this form can be detected at or before birth and can include
impaired growth during fetal development and a small head size (microcephaly).
Affected newborns have severe encephalopathy, which leads to a lack of movement,
difficulty feeding, and life-threatening respiratory problems. Some affected
babies develop seizures that do not improve with treatment. Because of the
severity of the encephalopathy, infants with this form of the condition
generally do not survive more than a few weeks after birth.
Adenylosuccinate lyase deficiency type I html:p Adenylosuccinate lyase deficiency type I (also known as the severe form) is the
most common. The signs and symptoms of this form begin in the first months of
life. Affected babies have severe psychomotor delay, weak muscle tone
(hypotonia), and microcephaly. Many affected infants develop recurrent seizures
that are difficult to treat, and some exhibit autistic behaviors, such as
repetitive behaviors and a lack of eye contact.
adenylosuccinate lyase deficiency type II html:p In individuals with adenylosuccinate lyase deficiency type II (also known as the
moderate or mild form), development is typically normal for the first few years
of life but then slows. Psychomotor delay is considered mild or moderate. Some
children with this form of the condition develop seizures and autistic
behaviors.
65 Adermatoglyphia https://ghr.nlm.nih.gov/condition/adermatoglyphia Adermatoglyphia appears to be a rare condition. Only a few affected html code memo related-gene gene-symbol ghr-page absence of fingerprints db key 2015-04 2017-12-29
families have been identified worldwide. html:p Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers ad autosomal dominant SMARCAD1 https://ghr.nlm.nih.gov/gene/SMARCAD1 ADERM GTR C1851080
and toes, as well as on the palms of the hands and soles of the feet. The ADG db key
ones with no fingerprints patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops immigration delay disease MeSH D003878
that are the basis for each person's unique fingerprints. Because no two people db key
have the same patterns, fingerprints have long been used as a way to identify OMIM 129200
individuals. However, people with adermatoglyphia do not have these ridges, and db key
so they cannot be identified by their fingerprints. Adermatoglyphia has been OMIM 136000
called the "immigration delay disease" because affected individuals have had db key
difficulty entering countries that require fingerprinting for identification. Orphanet 1658
html:p In some families, adermatoglyphia occurs without any related signs and symptoms. db key
In others, a lack of dermatoglyphs is associated with other features, typically Orphanet 289465
affecting the skin. These can include small white bumps called milia on the db key
face, blistering of the skin in areas exposed to heat or friction, and a reduced SNOMED CT 83145004
number of sweat glands on the hands and feet. Adermatoglyphia is also a feature
of several rare syndromes classified as ectodermal dysplasias (外胚层增生不良症), including a
condition called Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia
pigmentosa reticularis that affects the skin, hair, sweat glands, and teeth.
66 Adiposis dolorosa https://ghr.nlm.nih.gov/condition/adiposis-dolorosa Adiposis dolorosa is a rare condition whose prevalence is unknown. For html code memo synonym adiposalgia db-key key 2017-12-29
Dercum's disease reasons that are unclear, it occurs up to 30 times more often in women than in html:p Adiposis dolorosa is a condition characterized by painful folds of fatty ad autosomal dominant synonym adipose tissue rheumatism C0001529
Anders disease men. (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors synonym Anders syndrome db-key key
痛性肥胖症 called lipomas. This condition occurs most often in women who are overweight or synonym Dercum disease D000274
obese, and signs and symptoms typically appear between ages 35 and 50. synonym Dercum-Vitaut syndrome db-key key
html:p In people with adiposis dolorosa, abnormal fatty tissue or lipomas can occur synonym Dercum's disease 103200
anywhere on the body but are most often found on the torso, buttocks, and upper synonym lipomatosis dolorosa db-key key
parts of the arms and legs. Lipomas usually feel like firm bumps (nodules) under synonym morbus Dercum 36397
the skin. The growths cause burning or aching that can be severe. In some db-key key
people, the pain comes and goes, while in others it is continuous. Movement or 71404003
pressure on adipose tissue or lipomas can make the pain worse.
html:p Other signs and symptoms that have been reported to occur with adiposis dolorosa
include general weakness and tiredness (fatigue), depression, irritability,
confusion, recurrent seizures (epilepsy), and a progressive decline in
intellectual function (dementia). These problems do not occur in everyone with
adiposis dolorosa, and it is unclear whether they are directly related to the
condition.
67 ADNP syndrome https://ghr.nlm.nih.gov/condition/adnp-syndrome The prevalence of ADNP syndrome is unknown. It is estimated to account for html inheritance-pattern code memo related-gene ghr-page ADNP-related intellectual disability and autism spectrum disorder db-key db key 2017-03 2017-12-29
0.17 percent of all cases of autism spectrum disorder, making it one of the most html:p ADNP syndrome is a condition that causes a wide variety of signs and n not inherited https://ghr.nlm.nih.gov/gene/ADNP ADNP-related multiple congenital anomalies-intellectual disability-autism GTR C4014538
common genetic causes of this condition. symptoms. Its hallmark features are intellectual disability and autism spectrum disorder, spectrum disorder db-key db key
which is characterized by impaired communication and social interaction. Affected Helsmoortel-van der Aa syndrome GeneReviews adnp-dis
individuals also have distinctive facial features and abnormalities of multiple body systems. HVDAS db-key db key
mental retardation, autosomal dominant 28 MeSH D065886
html:p Individuals with ADNP syndrome have mild to severe intellectual MRD28 db-key db key
disability and delayed development of speech and motor skills such as sitting and walking. OMIM 615873
Some affected individuals are never able to speak. People with this disorder exhibit db-key db key
features typical of autism spectrum disorder, including repetitive behaviors Orphanet 404448
and difficulty with social interactions. ADNP syndrome is also associated with mood syndrome is also associated with mood disorders or behavioral problems, such as
disorders or behavioral problems, such as anxiety, temper tantrums, attention deficit- anxiety, temper tantrums, attention deficit-hyperactivity disorder (ADHD),
hyperactivity disorder (ADHD), obsessive-compulsive disorder, or sleep problems. obsessive-compulsive disorder, or sleep problems.
html:p Many people with ADNP syndrome have distinctive facial features,
which most commonly include a prominent forehead, a high hairline,
outside corners of the eyes that point upward or downward (upslanting or downslanting
palpebral fissures), droopy eyelids (ptosis); a broad nasal bridge, and a thin upper lip.
These individuals may also have unusually shaped ears or hand and finger abnormalities.
Eye and vision abnormalities, such as eyes that do not point in the same direction
(strabismus) and farsightedness (hyperopia), also occur in ADNP syndrome. Some people
with this condition have early appearance (eruption) of primary (baby) teeth.
html:p Some people with ADNP syndrome have weak muscle tone (hypotonia) and
feeding difficulties in infancy. They may also have digestive system problems, such as
backflow of stomach acids into the esophagus (gastroesophageal reflux), vomiting, and
constipation. Other features that occur in ADNP syndrome include obesity, seizures, and
heart abnormalities.
68 Adolescent idiopathic scoliosis https://ghr.nlm.nih.gov/condition/adolescent-idiopathic-scoliosis Adolescent idiopathic scoliosis is the most common spinal abnormality in html code memo synonym AIS db-key key 2017-12-29
青少年原發性脊椎側彎 children. It affects an estimated 2 to 3 percent of children in the U.S. html:p Adolescent idiopathic scoliosis is an abnormal curvature of the spine that u pattern unknown synonym late onset idiopathic scoliosis C1837461
appears in late childhood or adolescence. Instead of growing straight, the spine db-key key
develops a side-to-side curvature, usually in an elongated "S" or "C" shape; C1846366
the bones of the spine are also slightly twisted or rotated. db-key key
html:p Adolescent idiopathic scoliosis appears during the adolescent growth spurt, a C2700406
time when children are growing rapidly. In many cases the abnormal spinal curve db-key key
is stable, although in some children the curve is progressive (meaning it M41.12
becomes more severe over time). For unknown reasons, severe and progressive db-key key
curves occur more frequently in girls than in boys. However, mild spinal M41.122
curvature is equally common in girls and boys. db-key key
html:p Mild scoliosis generally does not cause pain, problems with movement, or M41.123
difficulty breathing. It may only be diagnosed if it is noticed during a regular db-key key
physical examination or a scoliosis screening at school. The most common signs M41.124
of the condition include a tilt or unevenness (asymmetry) in the shoulders, db-key key
hips, or waist, or having one leg that appears longer than the other. A small M41.125
percentage of affected children develop more severe, pronounced spinal db-key key
curvature. M41.126
html:p Scoliosis can occur as a feature of other conditions, including a variety of db-key key
genetic syndromes. However, adolescent idiopathic scoliosis typically occurs by M41.127
itself, without signs and symptoms affecting other parts of the body. db-key key
M41.129
db-key key
D012600
db-key key
181800
db-key key
607354
db-key key
608765
db-key key
612238
db-key key
612239
db-key key
3153
db-key key
203646004
69 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia https://ghr.nlm.nih.gov/condition/adult-onset-leukoencephalopathy-with-axonal-sp ALSP is thought to be a rare disorder, although the prevalence is unknown. html code memo related-gene gene-symbol ghr-page ALSP db key 2015-08 2017-12-29
heroids-and-pigmented-glia Because it can be mistaken for other disorders with similar symptoms, ALSP may html:p Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) ad autosomal dominant CSF1R https://ghr.nlm.nih.gov/gene/CSF1R hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia GTR C1857300
be underdiagnosed. is a neurological condition characterized by changes to certain areas of the db key
brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a GeneReviews hdls
type of brain tissue called white matter. White matter consists of nerve fibers db key
(axons) covered by a substance called myelin that insulates and protects them. MeSH D056784
The axons extend from nerve cells (neurons) and transmit nerve impulses db key
throughout the body. Areas of damage to this brain tissue (white matter lesions) OMIM 221820
can be seen with magnetic resonance imaging (MRI). Another feature of ALSP is db key
swellings called spheroids in the axons of the brain, which are a sign of axon Orphanet 313808
damage. Also common in ALSP are abnormally pigmented glial cells. Glial cells db key
are specialized brain cells that protect and maintain neurons. Damage to myelin SNOMED CT 702427005
and neurons is thought to contribute to many of the neurological signs and
symptoms in people with ALSP.
html:p Symptoms of ALSP usually begin in a person's 40s and worsen over time.
Personality changes, including depression and a loss of social inhibitions, are
among the earliest symptoms of ALSP. Affected individuals may develop memory
loss and loss of executive function, which is the ability to plan and implement
actions and develop problem-solving strategies. Loss of this function impairs
skills such as impulse control, self-monitoring, and focusing attention
appropriately. Some people with ALSP have mild seizures, usually only when the
condition begins. As ALSP progresses, it causes a severe decline in thinking and
reasoning abilities (dementia).
html:p Over time, motor skills are affected, and people with ALSP may have difficulty
walking. Many develop a pattern of movement abnormalities known as parkinsonism,
which includes unusually slow movement (bradykinesia), involuntary trembling
(tremor), and muscle stiffness (rigidity). The pattern of cognitive and motor
problems are variable, even among individuals in the same family, although
almost all affected individuals ultimately become unable to walk, speak, and
care for themselves.
html:p ALSP was previously thought to be two separate conditions, hereditary diffuse
leukoencephalopathy with spheroids (HDLS) and familial pigmentary orthochromatic
leukodystrophy (POLD), both of which cause very similar white matter damage and
cognitive and movement problems. POLD was thought to be distinguished by the
presence of pigmented glial cells and an absence of spheroids; however, people
with HDLS can have pigmented cells, too, and people with POLD can have
spheroids. HDLS and POLD are now considered to be part of the same disease
spectrum, which researchers have recommended calling ALSP.
70 Adult polyglucosan body disease https://ghr.nlm.nih.gov/condition/adult-polyglucosan-body-disease Adult polyglucosan body disease is a rare condition; although its exact html code memo related-gene gene-symbol ghr-page APBD db key 2016-07 2017-12-29
prevalence is unknown, at least 70 affected individuals have been described in html:p Adult polyglucosan body disease is a condition that affects the nervous system. ar autosomal recessive GBE1 https://ghr.nlm.nih.gov/gene/GBE1 polyglucosan body disease, adult form GTR C1849722
the medical literature. People with this condition have problems walking due to reduced sensation in db key
their legs (peripheral neuropathy) and progressive muscle weakness and stiffness GeneReviews apbd
(spasticity). Damage to the nerves that control bladder function, a condition db key
called neurogenic bladder, causes affected individuals to have progressive MeSH D002493
difficulty controlling the flow of urine. About half of people with adult db key
polyglucosan body disease experience a decline in intellectual function MeSH D006008
(dementia). db key
html:p People with adult polyglucosan body disease typically first experience signs and OMIM 263570
symptoms related to the condition between ages 30 and 60. db key
Orphanet 206583
db key
SNOMED CT 721099001
71 African iron overload https://ghr.nlm.nih.gov/condition/african-iron-overload African iron overload is common in rural areas of central and southern html code memo related-gene gene-symbol ghr-page African hemochromatosis db key 2016-07 2017-12-29
(Blood) Africa; up to 10 percent of the population in these regions may be affected. Men html:p African iron overload is a condition that involves absorption of too much iron u pattern unknown SLC40A1 https://ghr.nlm.nih.gov/gene/SLC40A1 African nutritional hemochromatosis GTR C0268063
seem to be affected more often than women, possibly due to some combination of from the diet. The excess iron is stored in the body's tissues and organs, African siderosis db key
differences in dietary iron consumption and women's shedding of excess iron particularly the liver, bone marrow, and spleen. Humans cannot increase the MeSH D012806
through blood loss in menstruation and childbirth.The prevalence of increased excretion of iron, although some iron is lost through bleeding or when cells of db key
iron stores in people of African descent in other parts of the world is unknown; the intestine (enterocytes) are shed at the end of the cells' lifespan. Iron OMIM 601195
however, these individuals may be at higher risk of developing mildly increased levels in the body are primarily regulated through control of how much iron is db key
iron stores than are people of European background. absorbed from the diet. SNOMED CT 66576001
html:p African iron overload results from a diet high in iron. It is particularly
associated with consumption of a traditional African beer that contains
dissolved iron from the metal drums in which it is brewed. Some evidence
suggests that a genetic predisposition to absorbing too much iron may also be
involved.
html:p In African iron overload, excess iron typically accumulates primarily in certain
immune cells called reticuloendothelial cells. Reticuloendothelial cells
include macrophages in the bone marrow and spleen and Kupffer cells, which are
specialized macrophages found in the liver that help protect the body against
foreign invaders such as viruses and bacteria. Later in the course of the
condition, iron also accumulates in liver cells (hepatocytes). This pattern
differs from that seen in a similar iron overload disorder called hereditary
hemochromatosis, in which the excess iron accumulates primarily in the
hepatocytes.
html:p When too much iron is absorbed, the resulting iron overload can eventually
damage tissues and organs. Iron overload in the liver can lead to chronic liver
disease (cirrhosis). Cirrhosis increases the risk of developing a type of liver
cancer called hepatocellular carcinoma. Iron overload in immune cells may affect
their ability to fight infections. African iron overload is associated with an
increased risk of developing infections such as tuberculosis. The excess iron
also leads to a faster-than-normal breakdown of vitamin C in the body, so
affected individuals are at increased risk of vitamin C deficiency problems such
as scurvy.
html:p People with African iron overload may have a slightly low number of red blood
cells (mild anemia), possibly because the iron that accumulates in the liver,
bone marrow, and spleen is less available for production of red blood cells.
Affected individuals also have high levels of a protein called ferritin in their
blood, which can be detected with a blood test. Ferritin stores and releases
iron in cells, and cells produce more ferritin in response to excess amounts of
iron.
72 Age-related hearing loss https://ghr.nlm.nih.gov/condition/age-related-hearing-loss Age-related hearing loss is one of the most common health conditions html code memo related-gene gene-symbol ghr-page age-related hearing impairment db key 2017-10 2017-12-29
affecting older adults. Tens of millions of people worldwide are affected. In html:p Age-related hearing loss (also known as presbycusis) is a decrease in hearing u pattern unknown APOE https://ghr.nlm.nih.gov/gene/APOE deafness due to old age GTR C2676230
the United States, an estimated one-third of people over age 65, and half of ability that happens with age. In most cases, the hearing loss affects both related-gene gene-symbol ghr-page hearing loss, age-related db key
those over 85, have some hearing loss. ears. It can begin as early as a person's thirties or forties and worsens CDH23 https://ghr.nlm.nih.gov/gene/CDH23 old-aged sensorineural hearing impairment GTR C2751814
gradually over time. related-gene gene-symbol ghr-page presbyacusia db key
html:p Age-related hearing loss first affects the ability to hear high-frequency EDN1 https://ghr.nlm.nih.gov/gene/EDN1 presbycusis ICD-10-CM H91.1
sounds, such as speech. Affected people find it increasingly difficult to related-gene gene-symbol ghr-page db key
understand what others are saying, particularly when there is background noise ESRRG https://ghr.nlm.nih.gov/gene/ESRRG ICD-10-CM H91.10
(such as at a party). However, because the hearing loss is gradual, many people related-gene gene-symbol ghr-page db key
do not realize they cannot hear as well as they used to. They may turn up the GIPC3 https://ghr.nlm.nih.gov/gene/GIPC3 ICD-10-CM H91.11
television volume or start speaking louder without being aware of it. related-gene gene-symbol ghr-page db key
html:p As the hearing loss worsens, it affects more frequencies of sound, making it GRHL2 https://ghr.nlm.nih.gov/gene/GRHL2 ICD-10-CM H91.12
difficult to hear more than just speech. Determining where a sound is coming related-gene gene-symbol ghr-page db key
from (localization) and identifying its source become more challenging. Some GRM7 https://ghr.nlm.nih.gov/gene/GRM7 ICD-10-CM H91.13
affected individuals also experience a ringing sensation in the ears (tinnitus) related-gene gene-symbol ghr-page db key
or dizziness and problems with balance (presbystasis). GRM8 https://ghr.nlm.nih.gov/gene/GRM8 MeSH D011304
html:p Age-related hearing loss often impacts a person's quality of life. Because related-gene gene-symbol ghr-page db key
affected individuals have trouble understanding speech, the condition affects KCNQ4 https://ghr.nlm.nih.gov/gene/KCNQ4 OMIM 612448
their ability to communicate. It can contribute to social isolation, depression, related-gene gene-symbol ghr-page db key
and loss of self-esteem. Age-related hearing loss also causes safety issues if MTHFR https://ghr.nlm.nih.gov/gene/MTHFR OMIM 612976
individuals become unable to hear smoke alarms, car horns, and other sounds that related-gene gene-symbol ghr-page db key
alert people to dangerous situations. MYO6 https://ghr.nlm.nih.gov/gene/MYO6 SNOMED CT 49526009
related-gene gene-symbol ghr-page
MYO7A https://ghr.nlm.nih.gov/gene/MYO7A
related-gene gene-symbol ghr-page
NAT2 https://ghr.nlm.nih.gov/gene/NAT2
related-gene gene-symbol ghr-page
SLC26A4 https://ghr.nlm.nih.gov/gene/SLC26A4
related-gene gene-symbol ghr-page
UCP2 https://ghr.nlm.nih.gov/gene/UCP2
related-mitochondrial-dna name ghr-page
mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna
73 Age-related macular degeneration https://ghr.nlm.nih.gov/condition/age-related-macular-degeneration Age-related macular degeneration has an estimated prevalence of 1 in 2,000 html code memo related-gene gene-symbol ghr-page age-related maculopathy db key 2016-08 2017-12-29
老年性黃斑病變 people in the United States and other developed countries. The condition html:p Age-related macular degeneration is an eye disease that is a leading cause of u pattern unknown ABCA4 https://ghr.nlm.nih.gov/gene/ABCA4 AMD GTR C0242383
currently affects several million Americans, and the prevalence is expected to vision loss in older people in developed countries. The vision loss usually related-gene gene-symbol ghr-page ARMD db key
increase over the coming decades as the proportion of older people in the becomes noticeable in a person's sixties or seventies and tends to worsen over APOE https://ghr.nlm.nih.gov/gene/APOE macular degeneration, age-related GTR C1837187
population increases.For reasons that are unclear, age-related macular time. related-gene gene-symbol ghr-page db key
degeneration affects individuals of European descent more frequently than html:p Age-related macular degeneration mainly affects central vision, which is needed ARMS2 https://ghr.nlm.nih.gov/gene/ARMS2 GTR C1853147
African Americans in the United States. for detailed tasks such as reading, driving, and recognizing faces. The vision related-gene gene-symbol ghr-page db key
loss in this condition results from a gradual deterioration of light-sensing ASPM https://ghr.nlm.nih.gov/gene/ASPM GTR C1857813
cells in the tissue at the back of the eye that detects light and color (the related-gene gene-symbol ghr-page db key
retina). Specifically, age-related macular degeneration affects a small area BEST1 https://ghr.nlm.nih.gov/gene/BEST1 GTR C1857814
near the center of the retina, called the macula, which is responsible for related-gene gene-symbol ghr-page db key
central vision. Side (peripheral) vision and night vision are generally not C2 https://ghr.nlm.nih.gov/gene/C2 GTR C1857815
affected, but reduced dim light (scotopic) vision often occurs in the early related-gene gene-symbol ghr-page db key
stages of the disease. C3 https://ghr.nlm.nih.gov/gene/C3 GTR C1864205
html:p Researchers have described two major types of age-related macular degeneration, related-gene gene-symbol ghr-page db key
known as the dry form and the wet form. The dry form is much more common, C9 https://ghr.nlm.nih.gov/gene/C9 GTR C1969108
accounting for 85 to 90 percent of all cases of age-related macular related-gene gene-symbol ghr-page db key
degeneration. It is characterized by a buildup of yellowish deposits called CETP https://ghr.nlm.nih.gov/gene/CETP GTR C1969651
drusen beneath the retina and vision loss that worsens slowly over time. The related-gene gene-symbol ghr-page db key
condition typically affects vision in both eyes, although vision loss often CFB https://ghr.nlm.nih.gov/gene/CFB GTR C2677774
occurs in one eye before the other. related-gene gene-symbol ghr-page db key
html:p The wet form of age-related macular degeneration is associated with severe CFH https://ghr.nlm.nih.gov/gene/CFH GTR C3151060
vision loss that can worsen rapidly. This form of the condition is characterized related-gene gene-symbol ghr-page db key
by the growth of abnormal, fragile blood vessels underneath the macula. These CFHR1 https://ghr.nlm.nih.gov/gene/CFHR1 GTR C3151063
vessels leak blood and fluid, which damages the macula and makes central vision related-gene gene-symbol ghr-page db key
appear blurry and distorted. CFHR2 https://ghr.nlm.nih.gov/gene/CFHR2 GTR C3151070
related-gene gene-symbol ghr-page db key
CFHR3 https://ghr.nlm.nih.gov/gene/CFHR3 GTR C3151079
related-gene gene-symbol ghr-page db key
CFHR4 https://ghr.nlm.nih.gov/gene/CFHR4 GTR C3495438
related-gene gene-symbol ghr-page db key
CFHR5 https://ghr.nlm.nih.gov/gene/CFHR5 GTR C3809523
related-gene gene-symbol ghr-page db key
CFI https://ghr.nlm.nih.gov/gene/CFI GTR C3809653
related-gene gene-symbol ghr-page db key
COL8A1 https://ghr.nlm.nih.gov/gene/COL8A1 GTR C3810042
related-gene gene-symbol ghr-page db key
COL10A1 https://ghr.nlm.nih.gov/gene/COL10A1 ICD-10-CM H35.30
related-gene gene-symbol ghr-page db key
CST3 https://ghr.nlm.nih.gov/gene/CST3 ICD-10-CM H35.31
related-gene gene-symbol ghr-page db key
CX3CR1 https://ghr.nlm.nih.gov/gene/CX3CR1 ICD-10-CM H35.32
related-gene gene-symbol ghr-page db key
ELOVL4 https://ghr.nlm.nih.gov/gene/ELOVL4 MeSH D008268
related-gene gene-symbol ghr-page db key
ERCC6 https://ghr.nlm.nih.gov/gene/ERCC6 OMIM 153800
related-gene gene-symbol ghr-page db key
F13B https://ghr.nlm.nih.gov/gene/F13B OMIM 603075
related-gene gene-symbol ghr-page db key
FBLN5 https://ghr.nlm.nih.gov/gene/FBLN5 OMIM 608895
related-gene gene-symbol ghr-page db key
FILIP1L https://ghr.nlm.nih.gov/gene/FILIP1L OMIM 610149
related-gene gene-symbol ghr-page db key
FRK https://ghr.nlm.nih.gov/gene/FRK OMIM 610698
related-gene gene-symbol ghr-page db key
HMCN1 https://ghr.nlm.nih.gov/gene/HMCN1 OMIM 611378
related-gene gene-symbol ghr-page db key
HTRA1 https://ghr.nlm.nih.gov/gene/HTRA1 OMIM 611488
related-gene gene-symbol ghr-page db key
LIPC https://ghr.nlm.nih.gov/gene/LIPC OMIM 611953
related-gene gene-symbol ghr-page db key
MAP2 https://ghr.nlm.nih.gov/gene/MAP2 OMIM 613757
related-gene gene-symbol ghr-page db key
TIMP3 https://ghr.nlm.nih.gov/gene/TIMP3 OMIM 613761
related-gene gene-symbol ghr-page db key
TNFRSF10A https://ghr.nlm.nih.gov/gene/TNFRSF10A OMIM 613778
related-gene gene-symbol ghr-page db key
VEGFA https://ghr.nlm.nih.gov/gene/VEGFA OMIM 613784
db key
OMIM 615439
db key
OMIM 615489
db key
OMIM 615591
db key
Orphanet 279
db key
SNOMED CT 267718000
74 Aicardi-Goutières syndrome https://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome Aicardi-Goutières syndrome is a rare disorder. Its exact prevalence is html code memo related-gene gene-symbol ghr-page AGS db key 2017-11 2017-12-29
Aicardi-Goutieres综合征 unknown. html:p Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the ad autosomal dominant ADAR https://ghr.nlm.nih.gov/gene/ADAR Aicardi-Goutieres syndrome GTR C0393591
immune system, and the skin. code memo related-gene gene-symbol ghr-page Aicardi Goutieres syndrome db key
html:p Most newborns with Aicardi-Goutières syndrome do not show any signs or symptoms ar autosomal recessive IFIH1 https://ghr.nlm.nih.gov/gene/IFIH1 Cree encephalitis GTR C0796126
of the disorder. However, about 20 percent are born with a combination of related-gene gene-symbol ghr-page encephalopathy with basal ganglia calcification db key
features that include an enlarged liver and spleen (hepatosplenomegaly), RNASEH2A https://ghr.nlm.nih.gov/gene/RNASEH2A familial infantile encephalopathy with intracranial calcification and chronic GTR C1835912
elevated blood levels of liver enzymes, a shortage of blood cell fragments related-gene gene-symbol ghr-page cerebrospinal fluid lymphocytosis db key
called platelets that are needed for normal blood clotting (thrombocytopenia), RNASEH2B https://ghr.nlm.nih.gov/gene/RNASEH2B pseudotoxoplasmosis syndrome GTR C1835916
and neurological abnormalities. While this combination of signs and symptoms is related-gene gene-symbol ghr-page db key
typically associated with the immune system's response to a viral infection that RNASEH2C https://ghr.nlm.nih.gov/gene/RNASEH2C GTR C2749659
is present at birth (congenital), no actual infection is found in these related-gene gene-symbol ghr-page db key
infants. For this reason, Aicardi-Goutières syndrome is sometimes referred to as SAMHD1 https://ghr.nlm.nih.gov/gene/SAMHD1 GTR C3150315
a "mimic of congenital infection." related-gene gene-symbol ghr-page db key
html:p Within the first year of life, most individuals with Aicardi-Goutières syndrome TREX1 https://ghr.nlm.nih.gov/gene/TREX1 GTR C3489724
experience an episode of severe brain dysfunction (encephalopathy), typically db key
lasting for several months. During this encephalopathic phase of the disorder, GTR C3539013
affected babies are usually extremely irritable and do not feed well. They may db key
develop intermittent fevers in the absence of infection (sterile pyrexias) and GTR C3888244
may have seizures. They stop developing new skills and begin losing skills they db key
had already acquired (developmental regression). Growth of the brain and skull GeneReviews ags
slows down, resulting in an abnormally small head size (microcephaly). In this db key
phase of the disorder, white blood cells and other immune system molecules MeSH D020279
associated with inflammation can be detected in the cerebrospinal fluid, which db key
is the fluid that surrounds the brain and spinal cord (central nervous system). OMIM 225750
These abnormal findings are consistent with inflammation and tissue damage in db key
the central nervous system. OMIM 610181
html:p The encephalopathic phase of Aicardi-Goutières syndrome causes permanent db key
neurological damage that is usually severe. Medical imaging reveals loss of OMIM 610329
white matter in the brain (leukodystrophy). White matter consists of nerve db key
fibers covered by myelin, which is a substance that protects nerves and insures OMIM 610333
rapid transmission of nerve impulses. Affected individuals also have abnormal db key
deposits of calcium (calcification) in the brain. As a result of this OMIM 612952
neurological damage, most people with Aicardi-Goutières syndrome have profound db key
intellectual disability. They also have muscle stiffness (spasticity); OMIM 615010
involuntary tensing of various muscles (dystonia), especially those in the arms; db key
and weak muscle tone (hypotonia) in the torso. OMIM 615846
html:p Some people with Aicardi-Goutières syndrome have features characteristic of db key
autoimmune disorders, which occur when the immune system malfunctions and Orphanet 51
attacks the body's own systems and organs. Some of these features overlap with db key
those of another disorder called systemic lupus erythematosus (SLE). A feature SNOMED CT 230312006
of SLE that also occurs in about 40 percent of people with Aicardi-Goutières
syndrome is a skin problem called chilblains. Chilblains are painful, itchy skin
lesions that are puffy and red, and usually appear on the fingers, toes, and
ears. They are caused by inflammation of small blood vessels, and may be brought
on or made worse by exposure to cold. Vision problems, joint stiffness, and
mouth ulcers are other features that can occur in both disorders.
html:p As a result of the severe neurological problems usually associated with
Aicardi-Goutières syndrome, most people with this disorder do not survive past
childhood. However, some affected individuals who develop the condition later or
have milder neurological problems live into adulthood.
75 Aicardi syndrome https://ghr.nlm.nih.gov/condition/aicardi-syndrome Aicardi syndrome is a very rare disorder. It occurs in about 1 in 105,000 html code memo synonym agenesis of corpus callosum with chorioretinal abnormality db-key key 2017-12-29
to 167,000 newborns in the United States. Researchers estimate that there are html:p Aicardi syndrome is a disorder that occurs almost exclusively in females. It is xd X-linked dominant synonym agenesis of corpus callosum with infantile spasms and ocular abnormalities C0175713
approximately 4,000 affected individuals worldwide. characterized by three main features that occur together in most affected synonym Aicardi's syndrome db-key key
individuals. People with Aicardi syndrome have absent or underdeveloped tissue synonym callosal agenesis and ocular abnormalities aic
connecting the left and right halves of the brain (agenesis or dysgenesis of the synonym chorioretinal anomalies with ACC db-key key
corpus callosum). They have seizures beginning in infancy (infantile spasms), D058540
which tend to progress to recurrent seizures (epilepsy) that can be difficult to db-key key
treat. Affected individuals also have chorioretinal lacunae, which are defects 304050
in the light-sensitive tissue at the back of the eye (retina). db-key key
html:p People with Aicardi syndrome often have additional brain abnormalities, 50
including asymmetry between the two sides of the brain, brain folds and grooves db-key key
that are small in size or reduced in number, cysts, and enlargement of the 80651009
fluid-filled cavities (ventricles) near the center of the brain. Some have an
unusually small head (microcephaly). Most affected individuals have moderate to
severe developmental delay and intellectual disability, although some people
with this disorder have milder disability.
html:p In addition to chorioretinal lacunae, people with Aicardi syndrome may have
other eye abnormalities such as small or poorly developed eyes (microphthalmia)
or a gap or hole (coloboma) in the optic nerve, a structure that carries
information from the eye to the brain. These eye abnormalities may cause
blindness in affected individuals.
html:p Some people with Aicardi syndrome have unusual facial features including a short
area between the upper lip and the nose (philtrum), a flat nose with an
upturned tip, large ears, and sparse eyebrows. Other features of this condition
include small hands, hand malformations, and spinal and rib abnormalities
leading to progressive abnormal curvature of the spine (scoliosis). They often
have gastrointestinal problems such as constipation or diarrhea,
gastroesophageal reflux, and difficulty feeding.
html:p The severity of Aicardi syndrome varies. Some people with this disorder have
very severe epilepsy and may not survive past childhood. Less severely affected
individuals may live into adulthood with milder signs and symptoms.
76 Alagille syndrome https://ghr.nlm.nih.gov/condition/alagille-syndrome The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. This html code memo related-gene gene-symbol ghr-page Alagille-Watson Syndrome db key 2014-12 2017-12-29
阿拉吉歐症候群 figure is based on diagnoses of liver disease in infants, and may be an html:p Alagille syndrome is a genetic disorder that can affect the liver, heart, and ad autosomal dominant JAG1 https://ghr.nlm.nih.gov/gene/JAG1 Alagille's syndrome GTR C1857761
underestimation because some people with Alagille syndrome do not develop liver other parts of the body. related-gene gene-symbol ghr-page arteriohepatic dysplasia (AHD) db key
disease during infancy. html:p One of the major features of Alagille syndrome is liver damage caused by NOTCH2 https://ghr.nlm.nih.gov/gene/NOTCH2 cardiovertebral syndrome GTR C1956125
abnormalities in the bile ducts. These ducts carry bile (which helps to digest related-chromosome name ghr-page cholestasis with peripheral pulmonary stenosis db key
fats) from the liver to the gallbladder and small intestine. In Alagille 20 https://ghr.nlm.nih.gov/chromosome/20 hepatic ductular hypoplasia GeneReviews alagille
syndrome, the bile ducts may be narrow, malformed, and reduced in number (bile hepatofacioneurocardiovertebral syndrome db key
duct paucity). As a result, bile builds up in the liver and causes scarring that paucity of interlobular bile ducts MeSH D016738
prevents the liver from working properly to eliminate wastes from the Watson-Miller syndrome db key
bloodstream. Signs and symptoms arising from liver damage in Alagille syndrome OMIM 118450
may include a yellowish tinge in the skin and the whites of the eyes (jaundice), db key
itchy skin, and deposits of cholesterol in the skin (xanthomas). OMIM 610205
html:p Alagille syndrome is also associated with several heart problems, including db key
impaired blood flow from the heart into the lungs (pulmonic stenosis). Pulmonic Orphanet 52
stenosis may occur along with a hole between the two lower chambers of the heart db key
(ventricular septal defect) and other heart abnormalities. This combination of SNOMED CT 31742004
heart defects is called tetralogy of Fallot.
html:p People with Alagille syndrome may have distinctive facial features including a
broad, prominent forehead; deep-set eyes; and a small, pointed chin. The
disorder may also affect the blood vessels within the brain and spinal cord
(central nervous system) and the kidneys. Affected individuals may have an
unusual butterfly shape of the bones of the spinal column (vertebrae) that can
be seen in an x-ray.
html:p Problems associated with Alagille syndrome generally become evident in infancy
or early childhood. The severity of the disorder varies among affected
individuals, even within the same family. Symptoms range from so mild as to go
unnoticed to severe heart and/or liver disease requiring transplantation.
html:p Some people with Alagille syndrome may have isolated signs of the disorder, such
as a heart defect like tetralogy of Fallot, or a characteristic facial
appearance. These individuals do not have liver disease or other features
typical of the disorder.
77 Aldosterone-producing adenoma https://ghr.nlm.nih.gov/condition/aldosterone-producing-adenoma Aldosterone-producing adenomas cause up to 60 percent of cases of primary html code memo related-gene gene-symbol ghr-page aldosterone-secreting adenoma db key 2017-08 2017-12-29
hyperaldosteronism. It is estimated that primary hyperaldosteronism accounts for html:p An aldosterone-producing adenoma is a noncancerous (benign) tumor that develops n not inherited ATP1A1 https://ghr.nlm.nih.gov/gene/ATP1A1 aldosteronoma MeSH D000236
5 to 15 percent of cases of hypertension, which affects approximately 3 in 10 in an adrenal gland, which is a small hormone-producing gland located on top of related-gene gene-symbol ghr-page Conn adenoma db key
adults worldwide. However, the prevalence of aldosterone-producing adenomas is each kidney. In most cases, individuals develop a single benign tumor in one of the ATP2B3 https://ghr.nlm.nih.gov/gene/ATP2B3 primary aldosteronism due to Conn adenoma Orphanet 85142
unknown. adrenal glands. The adrenal tumor produces too much of the hormone aldosterone, related-gene gene-symbol ghr-page
which is a condition known as primary hyperaldosteronism. Aldosterone helps CACNA1D https://ghr.nlm.nih.gov/gene/CACNA1D
regulate the body's fluid levels and blood pressure by controlling the amount of related-gene gene-symbol ghr-page
salt retained by the kidneys. Excess aldosterone causes the kidneys to retain CTNNB1 https://ghr.nlm.nih.gov/gene/CTNNB1
more salt than normal, which increases the body's fluid levels and blood related-gene gene-symbol ghr-page
pressure. People with an aldosterone-producing adenoma may develop severe high KCNJ5 https://ghr.nlm.nih.gov/gene/KCNJ5
blood pressure (hypertension), and they have an increased risk of heart attack,
stroke, or an irregular heart beat (atrial fibrillation).
78 Alexander disease https://ghr.nlm.nih.gov/condition/alexander-disease The prevalence of Alexander disease is unknown. About 500 cases have been html code memo related-gene gene-symbol ghr-page Alexander's disease db key 2015-10 2017-12-29
亚历山大症 reported since the disorder was first described in 1949. html:p Alexander disease is a rare disorder of the nervous system. It is one of a ad autosomal dominant GFAP https://ghr.nlm.nih.gov/gene/GFAP ALX GTR C0270726
亞歷山大症 group of disorders, called leukodystrophies, that involve the destruction of AxD db key
myelin. Myelin is the fatty covering that insulates nerve fibers and promotes demyelinogenic leukodystrophy GeneReviews alexander
the rapid transmission of nerve impulses. If myelin is not properly maintained, dysmyelinogenic leukodystrophy db key
the transmission of nerve impulses could be disrupted. As myelin deteriorates fibrinoid degeneration of astrocytes MeSH D038261
in leukodystrophies such as Alexander disease, nervous system functions are leukodystrophy with Rosenthal fibers db key
impaired. OMIM 203450
html:p Most cases of Alexander disease begin before age 2 and are described as the db key
infantile form. Signs and symptoms of the infantile form typically include an Orphanet 58
enlarged brain and head size (megalencephaly), seizures, stiffness in the arms db key
and/or legs (spasticity), intellectual disability, and developmental delay. SNOMED CT 81854007
Less frequently, onset occurs later in childhood (the juvenile form) or in
adulthood. Common problems in juvenile and adult forms of Alexander disease
include speech abnormalities, swallowing difficulties, seizures, and poor
coordination (ataxia). Rarely, a neonatal form of Alexander disease occurs
within the first month of life and is associated with severe intellectual
disability and developmental delay, a buildup of fluid in the brain
(hydrocephalus), and seizures.
html:p Alexander disease is also characterized by abnormal protein deposits known as
Rosenthal fibers. These deposits are found in specialized cells called
astroglial cells, which support and nourish other cells in the brain and spinal
cord (central nervous system).
79 ALG1-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation ALG1-CDG appears to be a rare disorder; fewer than 30 affected individuals html inheritance-pattern code memo related-gene ghr-page ALG1-CDG db-key db key 2017-12 2017-12-29
have been described in the scientific literature. html:p ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital ar autosomal recessive https://ghr.nlm.nih.gov/gene/ALG1 carbohydrate deficient glycoprotein syndrome type Ik GTR C2931005
disorder of glycosylation type Ik) is an inherited disorder with varying signs CDG1K db-key db key
and symptoms that typically develop during infancy and can affect several body systems. CDGIk GeneReviews cdg
html:p Individuals with ALG1-CDG often have intellectual disability, delayed development, congenital disorder of glycosylation type 1K db-key db key
and weak muscle tone (hypotonia). Many affected individuals develop seizures that can be mannosyltransferase 1 deficiency MeSH D018981
difficult to treat. Individuals with ALG1-CDG may also have movement problems such as db-key db key
involuntary rhythmic shaking (tremor) or difficulties with movement and balance (ataxia). OMIM 608540
html:p People with ALG1-CDG often have problems with blood clotting, which can lead to abnormal db-key db key
clotting or bleeding episodes. Additionally, affected individuals may produce abnormally low Orphanet 79327
levels of proteins called antibodies (or immunoglobulins), particularly immunoglobulin G (IgG). db-key db key
Antibodies help protect the body against infection by foreign particles and germs. SNOMED CT 720941007
A reduction in antibodies can make it difficult for affected individuals to
fight infections.
html:p Some people with ALG1-CDG have physical abnormalities such as a small head size
(microcephaly); unusual facial features; joint deformities called contractures; long, slender fingers
and toes (arachnodactyly); or unusually fleshy pads at the tips of the fingers and toes. Eye
problems that may occur in people with this condition include eyes that do not point
in the same direction (strabismus) or involuntary eye movements (nystagmus).
Rarely, affected individuals develop vision loss.
html:p Less common abnormalities that occur in people with ALG1-CDG include respiratory problems,
reduced sensation in their arms and legs (peripheral neuropathy), swelling (edema), and gastrointestinal difficulties.
html:p The signs and symptoms of ALG1-CDG are often severe, with affected individuals
surviving only into infancy or childhood. However, some people with this
condition are more mildly affected and survive into adulthood.
80 ALG12-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation ALG12-CDG is a rare condition; its prevalence is unknown. Only a handful of html inheritance-pattern code memo gene-symbol synonym ALG12-CDG db-key db key 2015-01 2017-12-29
affected individuals have been described in the medical literature. html:p ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as ar autosomal recessive ALG12 synonym CDG Ig GTR C2931001
congenital disorder of glycosylation type Ig) is an inherited disorder with synonym CDG1G db-key db key
varying signs and symptoms that can affect several body systems. Individuals synonym congenital disorder of glycosylation type 1G GeneReviews cdg
with ALG12-CDG typically develop signs and symptoms of the condition synonym congenital disorder of glycosylation type Ig db-key db key
during infancy. They may have problems feeding and difficulty growing and gaining MeSH D018981
weight at the expected rate (failure to thrive). In addition, affected individuals often have intellectual disability, db-key db key
delayed development, and weak muscle tone (hypotonia), and some develop seizures. OMIM 607143
html:p Some people with ALG12-CDG have physical abnormalities such as a small head size (microcephaly) db-key db key
and unusual facial features. These features can include folds of skin that Orphanet 137
cover the inner corners of the eyes (epicanthal folds), a prominent nasal bridge, db-key db key
and abnormally shaped ears. Some males with ALG12-CDG have abnormal genitalia, Orphanet 79324
such as a small penis (micropenis) and undescended testes. db-key db key
html:p People with ALG12-CDG often produce abnormally low levels of proteins called SNOMED CT 711155008
antibodies (or immunoglobulins), particularly immunoglobulin G (IgG). Antibodies
help protect the body against infection by attaching to specific foreign particles
and germs, marking them for destruction. A reduction in antibodies can
make it difficult for affected individuals to fight infections.
html:p html:i
ALG12
81 ALG6-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation The prevalence of ALG6-CDG is unknown, but it is thought to be the second html inheritance-pattern code related-gene ghr-page synonym ALG6-CDG db-key db key 2014-05 2017-12-29
most common type of congenital disorder of glycosylation. More than 30 cases of html:p ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as ar https://ghr.nlm.nih.gov/gene/ALG6 synonym carbohydrate-deficient glycoprotein syndrome type Ic GTR C2930997
ALG6-CDG have been described in the scientific literature. congenital disorder of glycosylation type Ic) is an inherited condition that synonym carbohydrate-deficient glycoprotein syndrome type V db-key db key
affects many parts of the body. The signs and symptoms of ALG6-CDG synonym CDG syndrome type Ic GeneReviews cdg
vary widely among people with the condition. synonym CDG1C db-key db key
html:p Individuals with ALG6-CDG typically develop signs and symptoms of synonym CDGIc MeSH D018981
the condition during infancy. They may have difficulty gaining weight synonym congenital disorder of glycosylation type Ic db-key db key
and growing at the expected rate (failure to thrive). Affected infants often synonym glucosyltransferase 1 deficiency OMIM 603147
have weak muscle tone (hypotonia) and developmental delay. db-key db key
html:p People with ALG6-CDG may have seizures, problems with coordination Orphanet 79320
and balance (ataxia), or stroke-like episodes that involve an extreme lack of db-key db key
energy (lethargy) and temporary paralysis. They may also develop blood clotting disorders. SNOMED CT 709412006
SomeSome individuals with ALG6-CDG have eye abnormalities including eyes that do not look in the same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, most females with ALG6-CDG do not go through puberty.
same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes
vision loss. Females with ALG6-CDG have hypergonadotropic hypogonadism,
which affects the production of hormones that direct sexual development. -CDG do not go through puberty.
As a result, most females with ALG6-CDG do not go through puberty.
82 Alkaptonuria, AKU https://ghr.nlm.nih.gov/condition/alkaptonuria This condition is rare, affecting 1 in 250,000 to 1 million people html code memo related-gene gene-symbol ghr-page AKU db key 2013-11 2017-12-29
黑尿症 worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it html:p Alkaptonuria is an inherited condition that causes urine to turn black when ar autosomal recessive HGD https://ghr.nlm.nih.gov/gene/HGD alcaptonuria GTR C0002066
has an incidence of about 1 in 19,000 people) and in the Dominican Republic. exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such homogentisic acid oxidase deficiency db key
as cartilage and skin, is also characteristic of the disorder. This blue-black homogentisic acidura GeneReviews alkap
pigmentation usually appears after age 30. People with alkaptonuria typically db key
develop arthritis, particularly in the spine and large joints, beginning in ICD-10-CM E70.29
early adulthood. Other features of this condition can include heart problems, db key
kidney stones, and prostate stones. MeSH D000474
db key
OMIM 203500
db key
Orphanet 56
db key
SNOMED CT 360381004
83 Allan-Herndon-Dudley syndrome https://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome Allan-Herndon-Dudley syndrome appears to be a rare disorder. About 25 html code memo related-gene gene-symbol ghr-page Allan-Herndon syndrome db key 2013-04 2017-12-29
families with individuals affected by this condition have been reported html:p Allan-Herndon-Dudley syndrome is a rare disorder of brain development that xr X-linked recessive SLC16A2 https://ghr.nlm.nih.gov/gene/SLC16A2 MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency GTR C0795889
worldwide. causes moderate to severe intellectual disability and problems with movement. mental retardation, X-linked, with hypotonia db key
This condition, which occurs exclusively in males, disrupts development from monocarboxylate transporter 8 (MCT8) deficiency GeneReviews thctd
before birth. Although affected males have impaired speech and a limited db key
ability to communicate, they seem to enjoy interaction with other people. MeSH D009123
html:p Most children with Allan-Herndon-Dudley syndrome have weak muscle tone db key
(hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As they MeSH D038901
get older, they usually develop joint deformities called contractures, which db key
restrict the movement of certain joints. Abnormal muscle stiffness (spasticity), OMIM 300523
muscle weakness, and involuntary movements of the arms and legs also limit db key
mobility. As a result, many people with Allan-Herndon-Dudley syndrome are unable Orphanet 59
to walk independently and become wheelchair-bound by adulthood. db key
SNOMED CT 702327009
84 Allergic asthma https://ghr.nlm.nih.gov/condition/allergic-asthma Approximately 235 million people worldwide have asthma. In the United html code memo synonym extrinsic asthma db-key key 2017-12-29
States, the condition affects an estimated 8 percent of the population. In html:p Asthma is a breathing disorder characterized by inflammation of the airways and u pattern unknown C0155877
nearly 90 percent of children and 50 percent of adults with asthma, the recurrent episodes of breathing difficulty. These episodes, sometimes referred db-key key
condition is classified as allergic asthma. to as asthma attacks, are triggered by irritation of the inflamed airways. In C1869116
allergic asthma, the attacks occur when substances known as allergens are db-key key
inhaled, causing an allergic reaction. Allergens are harmless substances that J45
the body's immune system mistakenly reacts to as though they are harmful. Common db-key key
allergens include pollen, dust, animal dander, and mold. The immune response D001249
leads to the symptoms of asthma. Allergic asthma is the most common form of the db-key key
disorder. 600807
html:p A hallmark of asthma is bronchial hyperresponsiveness, which means the airways db-key key
are especially sensitive to irritants and respond excessively. Because of this 389145006
hyperresponsiveness, attacks can be triggered by irritants other than allergens,
such as physical activity, respiratory infections, or exposure to tobacco
smoke, in people with allergic asthma.
html:p An asthma attack is characterized by tightening of the muscles around the
airways (bronchoconstriction), which narrows the airway and makes breathing
difficult. Additionally, the immune reaction can lead to swelling of the airways
and overproduction of mucus. During an attack, an affected individual can
experience chest tightness, wheezing, shortness of breath, and coughing. Over
time, the muscles around the airways can become enlarged (hypertrophied),
further narrowing the airways.
html:p Some people with allergic asthma have another allergic disorder, such as hay
fever (allergic rhinitis) or food allergies. Asthma is sometimes part of a
series of allergic disorders, referred to as the atopic march. Development of
these conditions typically follows a pattern, beginning with eczema (atopic
dermatitis), followed by food allergies, then hay fever, and finally asthma.
However, not all individuals with asthma have progressed through the atopic
march, and not all individuals with one allergic disease will develop others.
85 Alpers-Huttenlocher syndrome https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome The prevalence of Alpers-Huttenlocher syndrome is approximately 1 in html inheritance-pattern code memo related-gene gene-symbol synonym db-key db key 2011-06 2017-12-29
100,000 individuals. html:p Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions ar autosomal recessive POLG synonym GTR C0205710
called the POLG-related disorders. The conditions in this group feature a synonym db-key db key
range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. synonym GeneReviews alpers
Alpers-Huttenlocher syndrome typically becomes apparent in children between synonym db-key db key
ages 2 and 4. People with this condition usually have three characteristic features: synonym ICD-10-CM G31.81
recurrent seizures that do not improve with treatment (intractable epilepsy), db-key db key
loss of mental and movement abilities (psychomotor regression), and liver disease. MeSH D002549
db-key db key
html:p People with Alpers-Huttenlocher syndrome usually have additional signs and OMIM 203700
symptoms. Most have problems with coordination and balance (ataxia) and db-key db key
disturbances in nerve function (neuropathy). Neuropathy can lead to abnormal or Orphanet 726
absent reflexes (areflexia). In addition, affected individuals may develop weak db-key db key
muscle tone (hypotonia) that worsens until they lose the ability to control SNOMED CT 20415001
their muscles and movement. Some people with Alpers-Huttenlocher syndrome lose
the ability to walk, sit, or feed themselves. Other movement-related symptoms in
affected individuals can include involuntary muscle twitches (myoclonus),
uncontrollable movements of the limbs (choreoathetosis), or a pattern of
movement abnormalities known as parkinsonism.
html:p Affected individuals may have other brain-related signs and symptoms. Migraine
headaches, often with visual sensations or auras, are common. Additionally,
people with this condition may have decreased brain function that is
demonstrated as sleepiness, inability to concentrate, irritability, or loss of
language skills or memory. Some people with the condition may lose their
eyesight or hearing. People with Alpers-Huttenlocher syndrome can survive from a
few months to more than 10 years after the condition first appears.
86 Alpha-1 antitrypsin deficiency https://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies html code memo related-gene gene-symbol ghr-page AAT db key 2013-01 2017-12-29
α1-抗胰蛋白酶缺乏症 by population. This disorder affects about 1 in 1,500 to 3,500 individuals with html:p Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung ar autosomal recessive SERPINA1 https://ghr.nlm.nih.gov/gene/SERPINA1 AATD GTR C0221757
European ancestry. It is uncommon in people of Asian descent. Many individuals disease and liver disease. The signs and symptoms of the condition and the age alpha-1 protease inhibitor deficiency db key
with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people at which they appear vary among individuals. alpha-1 related emphysema GeneReviews alpha1-a
with a lung condition called chronic obstructive pulmonary disease (COPD). COPD html:p People with alpha-1 antitrypsin deficiency usually develop the first signs and genetic emphysema db key
can be caused by alpha-1 antitrypsin deficiency; however, the alpha-1 symptoms of lung disease between ages 20 and 50. The earliest symptoms are hereditary pulmonary emphysema ICD-10-CM E88.01
antitrypsin deficiency is often never diagnosed. Some people with alpha-1 shortness of breath following mild activity, reduced ability to exercise, and inherited emphysema db key
antitrypsin deficiency are misdiagnosed with asthma. wheezing. Other signs and symptoms can include unintentional weight loss, MeSH D019896
recurring respiratory infections, fatigue, and rapid heartbeat upon standing. db key
Affected individuals often develop emphysema, which is a lung disease caused by OMIM 613490
damage to the small air sacs in the lungs (alveoli). Characteristic features of db key
emphysema include difficulty breathing, a hacking cough, and a barrel-shaped Orphanet 60
chest. Smoking or exposure to tobacco smoke accelerates the appearance of db key
emphysema symptoms and damage to the lungs. SNOMED CT 30188007
html:p About 10 percent of infants with alpha-1 antitrypsin deficiency develop liver
disease, which often causes yellowing of the skin and whites of the eyes
(jaundice). Approximately 15 percent of adults with alpha-1 antitrypsin
deficiency develop liver damage (cirrhosis) due to the formation of scar tissue
in the liver. Signs of cirrhosis include a swollen abdomen, swollen feet or
swollen legs, and jaundice. Individuals with alpha-1 antitrypsin deficiency are also at
risk of developing a type of liver cancer called hepatocellular carcinoma.
html:p In rare cases, people with alpha-1 antitrypsin deficiency develop a skin
condition called panniculitis, which is characterized by hardened skin with
painful lumps or patches. Panniculitis varies in severity and can occur at any
age.
87 Alpha-mannosidosis https://ghr.nlm.nih.gov/condition/alpha-mannosidosis Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 html code memo related-gene gene-symbol ghr-page alpha-D-mannosidosis db key 2014-05 2017-12-29
甘露糖症 people worldwide. html:p Alpha-mannosidosis is a rare inherited disorder that causes problems in many ar autosomal recessive MAN2B1 https://ghr.nlm.nih.gov/gene/MAN2B1 alpha-mannosidase B deficiency GTR C0024748
organs and tissues of the body. Affected individuals may have intellectual alpha-mannosidase deficiency db key
disability, distinctive facial features, and skeletal abnormalities. deficiency of alpha-mannosidase GeneReviews a-mannosidosis
Characteristic facial features can include a large head, prominent forehead, low lysosomal alpha B mannosidosis db key
hairline, rounded eyebrows, large ears, flattened bridge of the nose, lysosomal alpha-D-mannosidase deficiency MeSH D008363
protruding jaw, widely spaced teeth, overgrown gums, and large tongue. The mannosidosis db key
skeletal abnormalities that can occur in this disorder include reduced bone OMIM 248500
density (osteopenia), thickening of the bones at the top of the skull db key
(calvaria), deformations of the bones in the spine (vertebrae), bowed legs or Orphanet 61
knock knees, and deterioration of the bones and joints. db key
html:p Affected individuals may also experience difficulty in coordinating movements SNOMED CT 124466001
(ataxia); muscle weakness (myopathy); delay in developing motor skills such as
sitting and walking; speech impairments; increased risk of infections;
enlargement of the liver and spleen (hepatosplenomegaly); a buildup of fluid in
the brain (hydrocephalus); hearing loss; and a clouding of the lens of the eye
(cataract). Some people with alpha-mannosidosis experience psychiatric symptoms
such as depression, anxiety, or hallucinations; episodes of psychiatric
disturbance may be triggered by stressors such as having undergone surgery,
emotional upset, or changes in routine.
html:p The signs and symptoms of alpha-mannosidosis can range from mild to severe. The
disorder may appear in infancy with rapid progression and severe neurological
deterioration. Individuals with this early-onset form of alpha-mannosidosis
often do not survive past childhood. In the most severe cases, an affected fetus
may die before birth. Other individuals with alpha-mannosidosis experience
milder signs and symptoms that appear later and progress more slowly. People
with later-onset alpha-mannosidosis may survive into their fifties. The mildest
cases may be detected only through laboratory testing and result in few if any
symptoms.
88 Alpha-methylacyl-CoA racemase deficiency https://ghr.nlm.nih.gov/condition/alpha-methylacyl-coa-racemase-deficiency AMACR deficiency is a rare disorder. Its prevalence is unknown. At least 10 html code memo related-gene gene-symbol ghr-page AMACR deficiency db key 2013-12 2017-12-29
cases have been described in the medical literature. html:p Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a ar autosomal recessive AMACR https://ghr.nlm.nih.gov/gene/AMACR GTR C1858325
variety of neurological problems that begin in adulthood and slowly get worse. db key
People with AMACR deficiency may have a gradual loss in intellectual functioning MeSH D018901
(cognitive decline), seizures, and migraines. They may also have acute episodes db key
of brain dysfunction (encephalopathy) similar to stroke, involving altered OMIM 614307
consciousness and areas of damage (lesions) in the brain. Other features of db key
AMACR deficiency may include weakness and loss of sensation in the limbs due to SNOMED CT 700463002
nerve damage (sensorimotor neuropathy), muscle stiffness (spasticity), and
difficulty coordinating movements (ataxia). Vision problems caused by
deterioration of the light-sensitive layer at the back of the eye (the retina)
can also occur in this disorder.
89 Alpha thalassemia https://ghr.nlm.nih.gov/condition/alpha-thalassemia Alpha thalassemia is a fairly common blood disorder worldwide. Thousands of html code memo related-gene gene-symbol ghr-page alpha-thalassemia db key 2017-06 2017-12-29
甲型地中海貧血 infants with Hb Bart syndrome and HbH disease are born each year, particularly html:p Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. u pattern unknown HBA1 https://ghr.nlm.nih.gov/gene/HBA1 α-thalassemia GTR C0002312
in Southeast Asia. Alpha thalassemia also occurs frequently in people from Hemoglobin is the protein in red blood cells that carries oxygen to cells related-gene gene-symbol ghr-page db key
Mediterranean countries, Africa, the Middle East, India, and Central Asia. throughout the body. HBA2 https://ghr.nlm.nih.gov/gene/HBA2 GeneReviews a-thal
甲型地中海貧血是一種遺傳性的血液病況，最常見於祖先源於亞洲國家的人，包括中國、菲律賓、馬來西亞、泰國、柬埔寨、老撾 (寮國)、越南、緬甸、印度和斯里蘭卡，但祖籍世界其他地區的人亦發現有這種病。 html:p In people with the characteristic features of alpha thalassemia, a reduction in db key
the amount of hemoglobin prevents enough oxygen from reaching the body's ICD-10-CM D56.0
tissues. Affected individuals also have a shortage of red blood cells (anemia), db key
which can cause pale skin, weakness, fatigue, and more serious complications. ICD-10-CM D56.3
html:p Two types of alpha thalassemia can cause health problems. The more severe type db key
is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb MeSH D017085
Bart syndrome or alpha thalassemia major. The milder form is called HbH disease. db key
Hb Bart syndrome html:p Hb Bart syndrome is characterized by hydrops fetalis, a condition in which OMIM 141800
excess fluid builds up in the body before birth. Additional signs and symptoms db key
can include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), OMIM 141850
heart defects, and abnormalities of the urinary system or abnormalities of the genitalia. As a result db key
of these serious health problems, most babies with this condition are stillborn OMIM 604131
or die soon after birth. Hb Bart syndrome can also cause serious complications db key
for women during pregnancy, including dangerously high blood pressure with Orphanet 846
swelling (preeclampsia), premature delivery, and abnormal bleeding. db key
HbH disease html:p HbH disease causes mild to moderate anemia, hepatosplenomegaly, and yellowing of SNOMED CT 68913001
the eyes and skin (jaundice). Some affected individuals also have bone changes
such as overgrowth of the upper jaw and an unusually prominent forehead. The
features of HbH disease usually appear in early childhood, and affected
individuals typically live into adulthood.
90 Alpha thalassemia X-linked intellectual disability syndrome https://ghr.nlm.nih.gov/condition/alpha-thalassemia-x-linked-intellectual-disabi Alpha thalassemia X-linked intellectual disability syndrome appears to be a html code memo related-gene gene-symbol ghr-page alpha-thalassemia X-linked mental retardation syndrome db key 2009-08 2017-12-29
lity-syndrome rare condition, although its exact prevalence is unknown. More than 200 html:p Alpha thalassemia X-linked intellectual disability syndrome is an inherited xr X-linked recessive ATRX https://ghr.nlm.nih.gov/gene/ATRX alpha thalassemia X-linked mental retardation syndrome GTR C1845055
affected individuals have been reported. disorder that affects many parts of the body. This condition occurs almost alpha-thalassemia/mental retardation syndrome, nondeletion type db key
exclusively in males. alpha thalassemia/mental retardation, X-linked GeneReviews xlmr
html:p Males with alpha thalassemia X-linked intellectual disability syndrome have ATR-X syndrome db key
intellectual disability and delayed development. Their speech is significantly ATRX syndrome ICD-10-CM D56.0
delayed, and most never speak or sign more than a few words. Most affected X-linked alpha-thalassemia/mental retardation syndrome db key
children have weak muscle tone (hypotonia), which delays motor skills such as XLMR-hypotonic face syndrome MeSH D038901
sitting, standing, and walking. Some people with this disorder are never able to db key
walk independently. OMIM 301040
html:p Almost everyone with alpha thalassemia X-linked intellectual disability syndrome db key
has distinctive facial features, including widely spaced eyes, a small nose Orphanet 847
with upturned nostrils, and low-set ears. The upper lip is shaped like an db key
upside-down "V," and the lower lip tends to be prominent. These facial SNOMED CT 277918006
characteristics are most apparent in early childhood. Over time, the facial db key
features become coarser, including a flatter face with a shortened nose. SNOMED CT 715342005
html:p Most affected individuals have mild signs of a blood disorder called alpha
thalassemia. This disorder reduces the production of hemoglobin, which is the
protein in red blood cells that carries oxygen to cells throughout the body. A
reduction in the amount of hemoglobin prevents enough oxygen from reaching the
body's tissues. Rarely, affected individuals also have a shortage of red blood
cells (anemia), which can cause pale skin, weakness, and fatigue.
html:p Additional features of alpha thalassemia X-linked intellectual disability
syndrome include an unusually small head size (microcephaly), short stature, and
skeletal abnormalities. Many affected individuals have problems with the
digestive system, such as a backflow of stomach acids into the esophagus
(gastroesophageal reflux) and chronic constipation. Genital abnormalities are
also common; affected males may have undescended testes and the opening of the
urethra on the underside of the penis (hypospadias). In more severe cases, the
external genitalia do not look clearly male or female (ambiguous genitalia).
91 Alport syndrome https://ghr.nlm.nih.gov/condition/alport-syndrome Alport syndrome occurs in approximately 1 in 50,000 newborns. html code memo related-gene gene-symbol ghr-page congenital hereditary hematuria db key 2013-12 2017-12-29
Alport综合征 html:p Alport syndrome is a genetic condition characterized by kidney disease, hearing ad autosomal dominant COL4A3 https://ghr.nlm.nih.gov/gene/COL4A3 hematuria-nephropathy-deafness syndrome GTR C1567741
艾柏症候群 loss, and eye abnormalities. code memo related-gene gene-symbol ghr-page hematuric hereditary nephritis db key
html:p People with Alport syndrome experience progressive loss of kidney function. ar autosomal recessive COL4A4 https://ghr.nlm.nih.gov/gene/COL4A4 hemorrhagic familial nephritis GTR C1567742
Almost all affected individuals have blood in their urine (hematuria), which code memo related-gene gene-symbol ghr-page hemorrhagic hereditary nephritis db key
indicates abnormal functioning of the kidneys. Many people with Alport syndrome xr X-linked recessive COL4A5 https://ghr.nlm.nih.gov/gene/COL4A5 hereditary familial congenital hemorrhagic nephritis GTR C1567743
also develop high levels of protein in their urine (proteinuria). The kidneys hereditary hematuria syndrome db key
become less able to function as this condition progresses, resulting in hereditary interstitial pyelonephritis GTR C1567744
end-stage renal disease (ESRD). hereditary nephritis db key
html:p People with Alport syndrome frequently develop sensorineural hearing loss, which GeneReviews alport
is caused by abnormalities of the inner ear, during late childhood or early db key
adolescence. Affected individuals may also have misshapen lenses in the eyes ICD-10-CM Q87.81
(anterior lenticonus) and abnormal coloration of the light-sensitive tissue at db key
the back of the eye (retina). These eye abnormalities seldom lead to vision MeSH D009394
loss. db key
html:p Significant hearing loss, eye abnormalities, and progressive kidney disease are OMIM 104200
more common in males with Alport syndrome than in affected females. db key
OMIM 203780
db key
OMIM 301050
db key
Orphanet 63
db key
SNOMED CT 717766000
db key
SNOMED CT 717767009
db key
SNOMED CT 717768004
92 Alström syndrome https://ghr.nlm.nih.gov/condition/alstrom-syndrome More than 900 people with Alström syndrome have been reported worldwide. html code memo related-gene gene-symbol ghr-page ALMS db key 2014-09 2017-12-29
Alstrom 氏症候群 html:p Alström syndrome is a rare condition that affects many body systems. Many of the ar autosomal recessive ALMS1 https://ghr.nlm.nih.gov/gene/ALMS1 Alstrom-Hallgren syndrome GTR C0268425
signs and symptoms of this condition begin in infancy or early childhood, Alstrom syndrome db key
although some appear later in life. GeneReviews alstrom
html:p Alström syndrome is characterized by a progressive loss of vision and hearing, a db key
form of heart disease that enlarges and weakens the heart muscle (dilated MeSH D056769
cardiomyopathy), obesity, type 2 diabetes (the most common form of diabetes), db key
and short stature. This disorder can also cause serious or life-threatening OMIM 203800
medical problems involving the liver, kidneys, bladder, and lungs. Some db key
individuals with Alström syndrome have a skin condition called acanthosis Orphanet 64
nigricans, which causes the skin in body folds and creases to become thick, db key
dark, and velvety. The signs and symptoms of Alström syndrome vary in severity, SNOMED CT 63702009
and not all affected individuals have all of the characteristic features of the
disorder.
93 Alternating hemiplegia of childhood (AHC) https://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood Alternating hemiplegia of childhood is a rare condition that affects html code memo related-gene gene-symbol ghr-page alternating hemiplegia syndrome db key 2016-09 2017-12-29
兒童交替性偏癱 approximately 1 in 1 million people. html:p Alternating hemiplegia of childhood is a neurological condition characterized by ad autosomal dominant ATP1A2 https://ghr.nlm.nih.gov/gene/ATP1A2 GTR C3549447
recurrent episodes of temporary paralysis, often affecting one side of the body related-gene gene-symbol ghr-page db key
(hemiplegia). During some episodes, the paralysis alternates from one side of ATP1A3 https://ghr.nlm.nih.gov/gene/ATP1A3 GTR C3553788
the body to the other or affects both sides at the same time. These episodes db key
begin in infancy or early childhood, usually before 18 months of age, and the MeSH D006429
paralysis lasts from minutes to days. db key
html:p In addition to paralysis, affected individuals can have sudden attacks of OMIM 104290
uncontrollable muscle activity; these can cause involuntary limb movements db key
(choreoathetosis), muscle tensing (dystonia), movement of the eyes (nystagmus), OMIM 614820
or shortness of breath (dyspnea). People with alternating hemiplegia of db key
childhood may also experience sudden redness and warmth (flushing) or unusual Orphanet 2131
paleness (pallor) of the skin. These attacks can occur during or separately from db key
episodes of hemiplegia. SNOMED CT 230466004
html:p The episodes of hemiplegia or uncontrolled movements can be triggered by certain
factors, such as stress, extreme tiredness, cold temperatures, or bathing,
although the trigger is not always known. A characteristic feature of
alternating hemiplegia of childhood is that all symptoms disappear while the
affected person is sleeping but can reappear shortly after awakening. The number
and length of the episodes initially worsen throughout childhood but then begin
to decrease over time. The uncontrollable muscle movements may disappear
entirely, but the episodes of hemiplegia occur throughout life.
html:p Alternating hemiplegia of childhood also causes mild to severe cognitive
problems. Almost all affected individuals have some level of developmental delay
and intellectual disability. Their cognitive functioning typically declines
over time.
94 Alveolar capillary dysplasia with misalignment of pulmonary veins https://ghr.nlm.nih.gov/condition/alveolar-capillary-dysplasia-with-misalignment ACD/MPV is a rare disorder; its incidence is unknown. Approximately 200 html code memo related-gene gene-symbol ghr-page ACD db key 2015-08 2017-12-29
-of-pulmonary-veins infants with this disorder have been identified worldwide. html:p Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a ad autosomal dominant FOXF1 https://ghr.nlm.nih.gov/gene/FOXF1 ACD/MPV GTR C0031190
disorder affecting the development of the lungs and their blood vessels. The code memo related-chromosome name ghr-page ACDMPV db key
disorder affects the millions of small air sacs (alveoli) in the lungs and the ar autosomal recessive 16 https://ghr.nlm.nih.gov/chromosome/16 alveolar capillary dysplasia MeSH D010547
tiny blood vessels (capillaries) in the alveoli. It is through these alveolar congenital alveolar capillary dysplasia db key
capillaries that inhaled oxygen enters the bloodstream for distribution familial persistent pulmonary hypertension of the newborn OMIM 265380
throughout the body and carbon dioxide leaves the bloodstream to be exhaled. misalignment of the pulmonary vessels db key
html:p In ACD/MPV, the alveolar capillaries fail to develop normally. The number of Orphanet 210122
capillaries is drastically reduced, and existing capillaries are improperly db key
positioned within the walls of the alveoli. These abnormalities in capillary SNOMED CT 206597007
number and location impede the exchange of oxygen and carbon dioxide.
html:p Other abnormalities of the blood vessels in the lungs also occur in ACD/MPV.
The veins that carry blood from the lungs into the heart (pulmonary veins) are
improperly positioned and may be abnormally bundled together with arteries that
carry blood from the heart to the lungs (pulmonary arteries). The muscle tissue
in the walls of the pulmonary arteries may be overgrown, resulting in thicker
artery walls and a narrower channel. These changes restrict normal blood flow,
which causes high blood pressure in the pulmonary arteries (pulmonary
hypertension) and requires the heart to pump harder.
html:p Most infants with ACD/MPV are born with additional abnormalities. These may
include abnormal twisting (malrotation) of the large intestine or other
malformations of the gastrointestinal tract. Cardiovascular and genitourinary
abnormalities are also common in affected individuals.
html:p Infants with ACD/MPV typically develop respiratory distress within a few minutes
to a few hours after birth. They experience shortness of breath and cyanosis,
which is a bluish appearance of the skin, mucous membranes, or the area
underneath the fingernails caused by a lack of oxygen in the blood. Without lung
transplantation, infants with ACD/MPV have not been known to survive past one
year of age, and most affected infants live only a few weeks.
95 Alzheimer disease https://ghr.nlm.nih.gov/condition/alzheimer-disease Alzheimer disease currently affects an estimated 2.4 million to 4.5 million html code memo related-gene gene-symbol ghr-page AD db key 2013-05 2017-12-29
阿茲海默症 Americans. Because the risk of developing Alzheimer disease increases with age html:p Alzheimer disease is a degenerative disease of the brain that causes dementia, ad autosomal dominant APOE https://ghr.nlm.nih.gov/gene/APOE Alzheimer dementia (AD) GTR C0002395
and more people are living longer, the number of people with this disease is which is a gradual loss of memory, judgment, and ability to function. This code memo related-gene gene-symbol ghr-page Alzheimer sclerosis db key
expected to increase significantly in coming decades. disorder usually appears in people older than age 65, but less common forms of u pattern unknown APP https://ghr.nlm.nih.gov/gene/APP Alzheimer syndrome GTR C1843013
the disease appear earlier in adulthood. related-gene gene-symbol ghr-page Alzheimer-type dementia (ATD) db key
html:p Memory loss is the most common sign of Alzheimer disease. Forgetfulness may be PSEN1 https://ghr.nlm.nih.gov/gene/PSEN1 Alzheimer's Disease GTR C1847200
subtle at first, but the loss of memory worsens over time until it interferes related-gene gene-symbol ghr-page DAT db key
with most aspects of daily living. Even in familiar settings, a person with PSEN2 https://ghr.nlm.nih.gov/gene/PSEN2 familial Alzheimer disease (FAD) GTR C1863051
Alzheimer disease may get lost or become confused. Routine tasks such as Presenile and senile dementia db key
preparing meals, doing laundry, and performing other household chores can be Primary Senile Degenerative Dementia GeneReviews alzheimer
challenging. Additionally, it may become difficult to recognize people and name SDAT db key
objects. Affected people increasingly require help with dressing, eating, and GeneReviews alzheimer-early
personal care. db key
html:p As the disorder progresses, some people with Alzheimer disease experience ICD-10-CM G30
personality and behavioral changes and have trouble interacting in a socially db key
appropriate manner. Other common symptoms include agitation, restlessness, ICD-10-CM G30.0
withdrawal, and loss of language skills. People with this disease usually db key
require total care during the advanced stages of the disease. Affected ICD-10-CM G30.1
individuals usually survive 8 to 10 years after the appearance of symptoms, but db key
the course of the disease can range from 1 to 25 years. Death usually results ICD-10-CM G30.8
early-onset from pneumonia, malnutrition, or general body wasting (inanition). db key
html:p Alzheimer disease can be classified as early-onset or late-onset. The signs and ICD-10-CM G30.9
late-onset symptoms of the early-onset form appear before age 65, while the late-onset db key
晚發性 form appears after age 65. The early-onset form is much less common than the MeSH D000544
late-onset form, accounting for less than 5 percent of all cases of Alzheimer db key
disease. OMIM 104300
db key
OMIM 104310
db key
OMIM 606889
db key
OMIM 607822
db key
Orphanet 1020
db key
SNOMED CT 10532003
db key
SNOMED CT 26929004
db key
SNOMED CT 416780008
db key
SNOMED CT 416975007
db key
SNOMED CT 65096006
96 Amelogenesis imperfecta https://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta The exact incidence of amelogenesis imperfecta is uncertain. Estimates html code memo related-gene gene-symbol ghr-page AI db key 2015-05 2017-12-29
牙釉質發育不全症 vary widely, from 1 in 700 people in northern Sweden to 1 in 14,000 people in html:p Amelogenesis imperfecta is a disorder of tooth development. This condition ad autosomal dominant AMELX https://ghr.nlm.nih.gov/gene/AMELX congenital enamel hypoplasia GTR C0399368
the United States. causes teeth to be unusually small teeth, discolored teeth, pitted or grooved teeth, and prone to code memo related-gene gene-symbol ghr-page db key
rapid wear and breakage. Other dental abnormalities are also possible. These ar autosomal recessive ENAM https://ghr.nlm.nih.gov/gene/ENAM GTR C0399376
defects, which vary among affected individuals, can affect both primary (baby) code memo related-gene gene-symbol ghr-page db key
teeth and permanent (adult) teeth. xr X-linked recessive FAM83H https://ghr.nlm.nih.gov/gene/FAM83H GTR C1845052
html:p Researchers have described at least 14 forms of amelogenesis imperfecta. These related-gene gene-symbol ghr-page db key
types are distinguished by their specific dental abnormalities and by their ITGB6 https://ghr.nlm.nih.gov/gene/ITGB6 GTR C2673923
pattern of inheritance. Additionally, amelogenesis imperfecta can occur alone related-gene gene-symbol ghr-page db key
without any other signs and symptoms or it can occur as part of a syndrome that KLK4 https://ghr.nlm.nih.gov/gene/KLK4 MeSH D000567
affects multiple parts of the body. related-gene gene-symbol ghr-page db key
LAMB3 https://ghr.nlm.nih.gov/gene/LAMB3 OMIM 104500
related-gene gene-symbol ghr-page db key
MMP20 https://ghr.nlm.nih.gov/gene/MMP20 OMIM 130900
related-gene gene-symbol ghr-page db key
ODAPH https://ghr.nlm.nih.gov/gene/ODAPH OMIM 204650
related-gene gene-symbol ghr-page db key
SLC24A4 https://ghr.nlm.nih.gov/gene/SLC24A4 OMIM 301200
related-gene gene-symbol ghr-page db key
WDR72 https://ghr.nlm.nih.gov/gene/WDR72 OMIM 612529
db key
Orphanet 88661
db key
SNOMED CT 234961008
db key
SNOMED CT 78494001
97 Aminoacylase 1 deficiency https://ghr.nlm.nih.gov/condition/aminoacylase-1-deficiency The prevalence of aminoacylase 1 deficiency is unknown. html inheritance-pattern code memo related-gene gene-symbol synonym db-key db key 2014-05 2017-12-29
html:p Aminoacylase 1 deficiency is an inherited disorder that can cause neurological ar autosomal recessive ACY1 synonym GTR C1835922
problems; the pattern and severity of signs and symptoms vary widely among db-key db key
affected individuals. Individuals with this condition typically have delayed MeSH D008661
development of mental and motor skills (psychomotor delay). They can have db-key db key
movement problems, reduced muscle tone (hypotonia), mild intellectual OMIM 609924
disability, and seizures. However, some people with aminoacylase 1 deficiency db-key db key
have no health problems related to the condition. A key feature common to all Orphanet 137754
people with aminoacylase 1 deficiency is high levels of modified protein db-key db key
N-acetylated amino acids, in the urine. SNOMED CT 709282004
98 Amish lethal microcephaly https://ghr.nlm.nih.gov/condition/amish-lethal-microcephaly Amish lethal microcephaly occurs in approximately 1 in 500 newborns in the html code memo related-gene gene-symbol ghr-page Amish microcephaly db key 2013-07 2017-12-29
Old Order Amish population of Pennsylvania. It has not been found outside this html:p Amish lethal microcephaly is a disorder in which infants are born with a very ar autosomal recessive SLC25A19 https://ghr.nlm.nih.gov/gene/SLC25A19 MCPHA GTR C1846648
population. small head and underdeveloped brain. microcephaly, Amish type db key
html:p Infants with Amish lethal microcephaly have a sloping forehead and an extremely GeneReviews amish-mcph
small head size. They may also have an unusually small lower jaw and chin db key
(micrognathia) and an enlarged liver (hepatomegaly). MeSH D008831
html:p Affected infants may have seizures and difficulty maintaining their body db key
temperature. Often they become very irritable starting in the second or third OMIM 607196
month of life. A compound called alpha-ketoglutaric acid can be detected in db key
their urine (alpha-ketoglutaric aciduria), and during episodes of viral illness Orphanet 99742
they tend to develop elevated levels of acid in the blood and tissues (metabolic db key
acidosis). Infants with this disorder typically feed adequately but do not SNOMED CT 702437000
develop skills such as purposeful movement or the ability to track faces and
sounds. Affected infants live only about six months.
99 Amyotrophic lateral sclerosis https://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis About 5,000 people in the United States are diagnosed with ALS each year. html code memo related-gene gene-symbol ghr-page ALS db key 2016-03 2017-12-29
Worldwide, this disorder occurs in 2 to 5 per 100,000 individuals. Only a small html:p Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor ad autosomal dominant ALS2 https://ghr.nlm.nih.gov/gene/ALS2 amyotrophic lateral sclerosis with dementia GTR C0002736
percentage of cases have a known genetic cause.Among the Chamorro people of neurons, which are specialized nerve cells that control muscle movement. These code memo related-gene gene-symbol ghr-page Charcot disease db key
Guam and people from the Kii Peninsula of Japan, ALS-PDC can be 100 times more nerve cells are found in the spinal cord and the brain. In ALS, motor neurons ar autosomal recessive ANG https://ghr.nlm.nih.gov/gene/ANG dementia with amyotrophic lateral sclerosis GTR C0543859
frequent than ALS is in other populations. ALS-PDC has not been reported outside die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and code memo related-gene gene-symbol ghr-page Lou Gehrig disease db key
of these populations. an inability to control movement. n not inherited ATXN2 https://ghr.nlm.nih.gov/gene/ATXN2 motor neuron disease, amyotrophic lateral sclerosis GTR C1836076
html:p There are many different types of ALS; these types are distinguished by their code memo related-gene gene-symbol ghr-page db key
signs and symptoms and their genetic cause or lack of clear genetic association. xd X-linked dominant C9orf72 https://ghr.nlm.nih.gov/gene/C9orf72 GTR C1837728
Most people with ALS have a form of the condition that is described as related-gene gene-symbol ghr-page db key
Sporadic ALS sporadic, which means it occurs in people with no apparent history of the CHCHD10 https://ghr.nlm.nih.gov/gene/CHCHD10 GTR C1842674
disorder in their family. People with sporadic ALS usually first develop related-gene gene-symbol ghr-page db key
features of the condition in their late fifties or early sixties. A small CHMP2B https://ghr.nlm.nih.gov/gene/CHMP2B GTR C1842675
proportion of people with ALS, estimated at 5 to 10 percent, have a family related-gene gene-symbol ghr-page db key
familial ALS history of ALS or a related condition called frontotemporal dementia (FTD), DCTN1 https://ghr.nlm.nih.gov/gene/DCTN1 GTR C1847735
which is a progressive brain disorder that affects personality, behavior, and related-gene gene-symbol ghr-page db key
language. The signs and symptoms of familial ALS typically first appear in one's ERBB4 https://ghr.nlm.nih.gov/gene/ERBB4 GTR C1859807
late forties or early fifties. Rarely, people with familial ALS develop related-gene gene-symbol ghr-page db key
symptoms in childhood or their teenage years. These individuals have a rare form FIG4 https://ghr.nlm.nih.gov/gene/FIG4 GTR C1862937
of the disorder known as juvenile ALS. related-gene gene-symbol ghr-page db key
html:p The first signs and symptoms of ALS may be so subtle that they are overlooked. FUS https://ghr.nlm.nih.gov/gene/FUS GTR C1862939
The earliest symptoms include muscle twitching, cramping, stiffness, or related-gene gene-symbol ghr-page db key
weakness. Affected individuals may develop slurred speech (dysarthria) and, HNRNPA1 https://ghr.nlm.nih.gov/gene/HNRNPA1 GTR C1865409
later, difficulty chewing or swallowing (dysphagia). Many people with ALS related-gene gene-symbol ghr-page db key
experience malnutrition because of reduced food intake due to dysphagia and an MATR3 https://ghr.nlm.nih.gov/gene/MATR3 GTR C1865864
increase in their body's energy demands (metabolism) due to prolonged illness. related-gene gene-symbol ghr-page db key
Muscles become weaker as the disease progresses, and arms and legs begin to look NEFH https://ghr.nlm.nih.gov/gene/NEFH GTR C2675491
thinner as muscle tissue atrophies. Individuals with ALS eventually lose muscle related-gene gene-symbol ghr-page db key
strength and the ability to walk. Affected individuals eventually become OPTN https://ghr.nlm.nih.gov/gene/OPTN GTR C2677565
wheelchair-dependent and increasingly require help with personal care and other related-gene gene-symbol ghr-page db key
activities of daily living. Over time, muscle weakness causes affected PFN1 https://ghr.nlm.nih.gov/gene/PFN1 GTR C2678468
individuals to lose the use of their hands and arms. Breathing becomes difficult related-gene gene-symbol ghr-page db key
because the muscles of the respiratory system weaken. Most people with ALS die PRPH https://ghr.nlm.nih.gov/gene/PRPH GTR C3150692
from respiratory failure within 2 to 10 years after the signs and symptoms of related-gene gene-symbol ghr-page db key
ALS first appear; however, disease progression varies widely among affected SETX https://ghr.nlm.nih.gov/gene/SETX GTR C3151403
individuals. related-gene gene-symbol ghr-page db key
ALS-FTD html:p Approximately 20 percent of individuals with ALS also develop FTD. Changes in SIGMAR1 https://ghr.nlm.nih.gov/gene/SIGMAR1 GTR C3275459
personality and behavior may make it difficult for affected individuals to related-gene gene-symbol ghr-page db key
interact with others in a socially appropriate manner. Communication skills SMN1 https://ghr.nlm.nih.gov/gene/SMN1 GTR C3280587
worsen as the disease progresses. It is unclear how the development of ALS and related-gene gene-symbol ghr-page db key
FTD are related. Individuals who develop both conditions are diagnosed as having SOD1 https://ghr.nlm.nih.gov/gene/SOD1 GTR C3553719
ALS-FTD. related-gene gene-symbol ghr-page db key
html:p A rare form of ALS that often runs in families is known as SPG11 https://ghr.nlm.nih.gov/gene/SPG11 GTR C3715155
ALS-PDC ALS-parkinsonism-dementia complex (ALS-PDC). This disorder is characterized by related-gene gene-symbol ghr-page db key
the signs and symptoms of ALS, in addition to a pattern of movement SQSTM1 https://ghr.nlm.nih.gov/gene/SQSTM1 GTR C3715156
abnormalities known as parkinsonism, and a progressive loss of intellectual related-gene gene-symbol ghr-page db key
function (dementia). Signs of parkinsonism include unusually slow movements TARDBP https://ghr.nlm.nih.gov/gene/TARDBP GTR C4225325
(bradykinesia), stiffness, and tremors. Affected members of the same family can related-gene gene-symbol ghr-page db key
have different combinations of signs and symptoms. TBK1 https://ghr.nlm.nih.gov/gene/TBK1 GTR C4225326
related-gene gene-symbol ghr-page db key
TRPM7 https://ghr.nlm.nih.gov/gene/TRPM7 GeneReviews als-ftd
related-gene gene-symbol ghr-page db key
TUBA4A https://ghr.nlm.nih.gov/gene/TUBA4A GeneReviews als-overview
related-gene gene-symbol ghr-page db key
UBQLN2 https://ghr.nlm.nih.gov/gene/UBQLN2 GeneReviews iahsp
related-gene gene-symbol ghr-page db key
VAPB https://ghr.nlm.nih.gov/gene/VAPB GeneReviews tardbp-als
related-gene gene-symbol ghr-page db key
VCP https://ghr.nlm.nih.gov/gene/VCP ICD-10-CM G12.21
db key
MeSH D000690
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OMIM 105400
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OMIM 105500
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OMIM 105550
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OMIM 205100
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OMIM 300857
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OMIM 602099
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OMIM 602433
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OMIM 606640
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OMIM 608030
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OMIM 608031
db key
OMIM 608627
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OMIM 611895
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OMIM 612069
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OMIM 612577
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OMIM 613435
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OMIM 613954
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OMIM 614373
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OMIM 614696
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OMIM 614808
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OMIM 615426
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OMIM 615515
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OMIM 615911
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OMIM 616208
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OMIM 616437
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OMIM 616439
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Orphanet 803
db key
Orphanet 275872
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Orphanet 90020
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SNOMED CT 230258005
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SNOMED CT 86044005
100 Anauxetic dysplasia https://ghr.nlm.nih.gov/condition/anauxetic-dysplasia Anauxetic dysplasia is a very rare disorder; its prevalence is unknown. html code memo related-gene gene-symbol ghr-page AD db key 2017-07 2017-12-29
html:p Anauxetic dysplasia is a disorder characterized by extremely short stature ar autosomal recessive POP1 https://ghr.nlm.nih.gov/gene/POP1 spondylometaepiphyseal dysplasia, anauxetic type GTR C1846796
(dwarfism) and other skeletal abnormalities, an unusually large range of joint related-gene gene-symbol ghr-page spondylometaepiphyseal dysplasia, Menger type db key
movement (hypermobility), dental problems, and distinctive facial features. Mild RMRP https://ghr.nlm.nih.gov/gene/RMRP GeneReviews chh
intellectual disability can also occur in this disorder. db key
html:p People with anauxetic dysplasia have dwarfism with unusually short limbs for MeSH D004392
their height (disproportionate short stature) beginning before birth. db key
Dislocation of the bones at the top of the spine (atlantoaxial subluxation) can OMIM 607095
also occur in this disorder, and may cause pinching (compression) of the spinal db key
cord. As a result, affected individuals may experience neurological symptoms OMIM 617396
including pain, tingling, numbness, coordination problems, weakness, and db key
paralysis. In severe cases, the spinal cord compression may lead to paralysis of Orphanet 93347
the muscles needed for breathing, which can be life-threatening during early
childhood.
html:p Other skeletal abnormalities in anauxetic dysplasia include a barrel-shaped
chest and a rounded upper back that also curves to the side (kyphoscoliosis).
Without surgical correction, the kyphoscoliosis can constrict the lungs and
cause difficulty breathing. People with anauxetic dysplasia can also have an
exaggerated curvature of the lower back (hyperlordosis), dislocation of the
hips, and soles of the feet that are rounded outward (rocker-bottom feet).
html:p Typical facial features in anauxetic dysplasia include closely spaced eyes
(hypotelorism), a flat or sunken appearance of the middle of the face (midface
hypoplasia), an unusually large tongue (macroglossia), and a protruding chin
(prognathism). Affected individuals can also have fewer teeth than normal
(hypodontia).
101 Andermann syndrome https://ghr.nlm.nih.gov/condition/andermann-syndrome Andermann syndrome is most often seen in the French-Canadian population of html code memo related-gene gene-symbol ghr-page ACCPN db key 2008-06 2017-12-29
the Saguenay-Lac-St.-Jean and Charlevoix regions of northeastern Quebec. In this html:p Andermann syndrome is a disorder that damages the nerves used for muscle ar autosomal recessive SLC12A6 https://ghr.nlm.nih.gov/gene/SLC12A6 agenesis of corpus callosum with neuronopathy GTR C0795950
population, Andermann syndrome occurs in almost 1 in 2,000 newborns. Only a few movement and sensation (motor and sensory neuropathy). Absence (agenesis) or agenesis of corpus callosum with peripheral neuropathy db key
individuals with this disorder have been identified in other regions of the malformation of the tissue connecting the left and right halves of the brain agenesis of corpus callosum with polyneuropathy GeneReviews accpn
world. (corpus callosum) also occurs in most people with this disorder. Charlevoix disease db key
html:p People affected by Andermann syndrome have abnormal or absent reflexes hereditary motor and sensory neuropathy with agenesis of the corpus callosum MeSH D006211
(areflexia) and weak muscle tone (hypotonia). They experience muscle wasting HMSN/ACC db key
(amyotrophy), severe progressive weakness and loss of sensation in the limbs, MeSH D015417
and rhythmic shaking (tremors). They typically begin walking between ages 3 and db key
4 and lose this ability by their teenage years. As they get older, people with OMIM 218000
this disorder frequently develop joint deformities called contractures, which db key
restrict the movement of certain joints. Most affected individuals also develop Orphanet 1496
abnormal curvature of the spine (scoliosis), which may require surgery. db key
html:p Andermann syndrome also results in abnormal function of certain cranial nerves, SNOMED CT 702439002
which emerge directly from the brain and extend to various areas of the head and
neck. Cranial nerve problems may result in facial muscle weakness, drooping
eyelids (ptosis), and difficulty following movements with the eyes (gaze palsy).
html:p Individuals with Andermann syndrome usually have intellectual disability, which
may be mild to severe, and some experience seizures. They may also develop
psychiatric symptoms such as depression, anxiety, agitation, paranoia, and
hallucinations, which usually appear in adolescence.
html:p Some people with Andermann syndrome have atypical physical features such as
widely spaced eyes (ocular hypertelorism); a wide, short skull (brachycephaly);
a high arch of the hard palate at the roof of the mouth; a big toe that crosses
over the other toes; and partial fusion (syndactyly) of the second and third
toes.
html:p Andermann syndrome is associated with a shortened life expectancy, but affected
individuals typically live into adulthood.
102 Andersen-Tawil syndrome https://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome Andersen-Tawil syndrome is a rare genetic disorder; its incidence is html inheritance-pattern code memo related-gene gene-symbol synonym db-key db key 2006-04 2017-12-29
Andersen氏综合征 unknown. About 100 people with this condition have been reported worldwide. html:p Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness ad autosomal dominant KCNJ2 synonym GTR C1563715
(periodic paralysis), changes in heart rhythm (arrhythmia), and developmental synonym db-key db key
abnormalities. The most common changes affecting the heart are ventricular synonym GeneReviews acpp
arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, synonym db-key db key
and long QT syndrome. Long QT syndrome is a heart condition that causes the synonym MeSH D050030
heart (cardiac) muscle to take longer than usual to recharge between beats. If db-key db key
untreated, the irregular heartbeats can lead to discomfort, fainting (syncope), OMIM 170390
or cardiac arrest. db-key db key
html:p Physical abnormalities associated with Andersen-Tawil syndrome typically affect Orphanet 37553
the head, face, and limbs. These features often include a very small lower jaw db-key db key
(micrognathia), dental abnormalities, low-set ears, widely spaced eyes, and SNOMED CT 422348008
unusual curving of the fingers or toes (clinodactyly). Some affected people
also have short stature and an abnormal curvature of the spine (scoliosis).
Andersen-Tawil syndrome Type 1 html:p Two types of Andersen-Tawil syndrome are distinguished by their genetic causes.
Type 1, which accounts for about 60 percent of all cases of the disorder, is
caused by mutations in the KCNJ2 gene. The remaining 40 percent of
Andersen-Tawil syndrome Type 2 cases are designated as type 2; the cause of these cases is unknown.
103 Androgen insensitivity syndrome https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 people html code memo related-gene gene-symbol ghr-page AIS db key 2016-11 2017-12-29
男性女性化症 who are genetically male. Partial androgen insensitivity is thought to be at html:p Androgen insensitivity syndrome is a condition that affects sexual development xr X-linked recessive AR https://ghr.nlm.nih.gov/gene/AR androgen receptor deficiency GTR C0039585
least as common as complete androgen insensitivity. Mild androgen insensitivity before birth and during puberty. People with this condition are genetically androgen resistance syndrome db key
is much less common. male, with one X chromosome and one Y chromosome in each cell. Because their AR deficiency GTR CN035075
bodies are unable to respond to certain male sex hormones (called androgens), DHTR deficiency db key
they may have mostly female external sex characteristics or signs of both male dihydrotestosterone receptor deficiency GTR CN037063
and female sexual development. db key
html:p Complete androgen insensitivity syndrome occurs when the body cannot use GeneReviews androgen
androgens at all. People with this form of the condition have the external sex db key
characteristics of females, but do not have a uterus and therefore do not ICD-10-CM E34.5
menstruate and are unable to conceive a child (infertile). They are typically db key
raised as females and have a female gender identity. Affected individuals have ICD-10-CM E34.50
male internal sex organs (testes) that are undescended, which means they are db key
abnormally located in the pelvis or abdomen. Undescended testes have a small ICD-10-CM E34.51
chance of becoming cancerous later in life if they are not surgically removed. db key
People with complete androgen insensitivity syndrome also have sparse or absent ICD-10-CM E34.52
hair in the pubic area and under the arms. db key
html:p The partial and mild forms of androgen insensitivity syndrome result when the MeSH D013734
body's tissues are partially sensitive to the effects of androgens. People with db key
partial androgen insensitivity (also called Reifenstein syndrome) can have OMIM 300068
genitalia that look typically female, genitalia that have both male and female db key
characteristics, or genitalia that look typically male. They may be raised as Orphanet 754
males or as females and may have a male or a female gender identity. People db key
with mild androgen insensitivity are born with male sex characteristics, but Orphanet 90797
they are often infertile and tend to experience breast enlargement at puberty. db key
Orphanet 99429
db key
SNOMED CT 12313004
db key
SNOMED CT 52832001
db key
SNOMED CT 58672003
104 Androgenetic alopecia https://ghr.nlm.nih.gov/condition/androgenetic-alopecia Androgenetic alopecia is a frequent cause of hair loss in both men and html code memo related-gene gene-symbol ghr-page androgenic alopecia db key 2015-08 2017-12-29
women. This form of hair loss affects an estimated 50 million men and 30 million html:p Androgenetic alopecia is a common form of hair loss in both men and women. In u pattern unknown AR https://ghr.nlm.nih.gov/gene/AR female pattern baldness GTR C0162311
women in the United States. Androgenetic alopecia can start as early as a men, this condition is also known as male-pattern baldness. Hair is lost in a male pattern alopecia db key
person's teens and risk increases with age; more than 50 percent of men over age well-defined pattern, beginning above both temples. Over time, the hairline male pattern baldness GTR C2676272
50 have some degree of hair loss. In women, hair loss is most likely after recedes to form a characteristic "M" shape. Hair also thins at the crown (near pattern baldness db key
menopause. the top of the head), often progressing to partial or complete baldness. GTR C2678038
html:p The pattern of hair loss in women differs from male-pattern baldness. In women, db key
the hair becomes thinner all over the head, and the hairline does not recede. ICD-10-CM L64
Androgenetic alopecia in women rarely leads to total baldness. db key
html:p Androgenetic alopecia in men has been associated with several other medical ICD-10-CM L64.8
conditions including coronary heart disease and enlargement of the prostate. db key
Additionally, prostate cancer, disorders of insulin resistance (such as diabetes ICD-10-CM L64.9
and obesity), and high blood pressure (hypertension) have been related to db key
androgenetic alopecia. In women, this form of hair loss is associated with an MeSH D000505
increased risk of polycystic ovary syndrome (PCOS). PCOS is characterized by a db key
hormonal imbalance that can lead to irregular menstruation, acne, excess hair OMIM 109200
elsewhere on the body (hirsutism), and weight gain. db key
OMIM 300710
db key
OMIM 612421
db key
SNOMED CT 1108009
db key
SNOMED CT 201144006
db key
SNOMED CT 87872006
105 Anencephaly https://ghr.nlm.nih.gov/condition/anencephaly Anencephaly is one of the most common types of neural tube defect, html code memo related-gene gene-symbol ghr-page anencephalia db key 2014-11 2017-12-29
affecting about 1 in 1,000 pregnancies. However, most of these pregnancies end html:p Anencephaly is a condition that prevents the normal development of the brain and u pattern unknown MTHFR https://ghr.nlm.nih.gov/gene/MTHFR anencephalus GTR C0002902
in miscarriage, so the prevalence of this condition in newborns is much lower. the bones of the skull. This condition results when a structure called the aprosencephaly db key
An estimated 1 in 10,000 infants in the United States is born with anencephaly. neural tube fails to close during the first few weeks of embryonic development. congenital absence of brain GTR C0027794
The neural tube is a layer of cells that ultimately develops into the brain and db key
spinal cord. Because anencephaly is caused by abnormalities of the neural tube, GTR C1866558
it is classified as a neural tube defect. db key
html:p Because the neural tube fails to close properly, the developing brain and spinal ICD-10-CM Q00.0
cord are exposed to the amniotic fluid that surrounds the fetus in the womb. db key
This exposure causes the nervous system tissue to break down (degenerate). As a MeSH D000757
result, people with anencephaly are missing large parts of the brain called the db key
cerebrum and cerebellum. These brain regions are necessary for thinking, OMIM 182940
hearing, vision, emotion, and coordinating movement. The bones of the skull are db key
also missing or incompletely formed. OMIM 206500
html:p Because these nervous system abnormalities are so severe, almost all babies with db key
anencephaly die before birth or within a few hours or days after birth. OMIM 601634
db key
Orphanet 1048
db key
SNOMED CT 277922001
db key
SNOMED CT 85641006
db key
SNOMED CT 89369001
106 Angelman syndrome https://ghr.nlm.nih.gov/condition/angelman-syndrome Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people. html code memo related-gene gene-symbol ghr-page AS db key 2015-05 2017-12-29
安裘曼氏症(天使症候群) html:p Angelman syndrome is a complex genetic disorder that primarily affects the n not inherited OCA2 https://ghr.nlm.nih.gov/gene/OCA2 GTR C0162635
nervous system. Characteristic features of this condition include delayed related-gene gene-symbol ghr-page db key
development, intellectual disability, severe speech impairment, and problems UBE3A https://ghr.nlm.nih.gov/gene/UBE3A GeneReviews angelman
with movement and balance (ataxia). Most affected children also have recurrent related-chromosome name ghr-page db key
seizures (epilepsy) and a small head size (microcephaly). Delayed development 15 https://ghr.nlm.nih.gov/chromosome/15 MeSH D017204
becomes noticeable by the age of 6 to 12 months, and other common signs and db key
symptoms usually appear in early childhood. OMIM 105830
html:p Children with Angelman syndrome typically have a happy, excitable demeanor with db key
frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short Orphanet 72
attention span, and a fascination with water are common. Most affected children db key
also have difficulty sleeping and need less sleep than usual. SNOMED CT 76880004
html:p With age, people with Angelman syndrome become less excitable, and the sleeping
problems tend to improve. However, affected individuals continue to have
intellectual disability, severe speech impairment, and seizures throughout their
lives. Adults with Angelman syndrome have distinctive facial features that may
be described as "coarse." Other common features include unusually fair skin with
light-colored hair and an abnormal side-to-side curvature of the spine
(scoliosis). The life expectancy of people with this condition appears to be
nearly normal.
107 Anhidrotic ectodermal dysplasia with immune deficiency https://ghr.nlm.nih.gov/condition/anhidrotic-ectodermal-dysplasia-with-immune-de The prevalence of the X-linked recessive type of EDA-ID is estimated to be html code memo related-gene gene-symbol ghr-page ectodermal dysplasia, hypohidrotic, with immune deficiency db key 2017-03 2017-12-29
ficiency 1 in 250,000 individuals. Only a few cases of the autosomal dominant form have html:p Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ad autosomal dominant IKBKG https://ghr.nlm.nih.gov/gene/IKBKG EDA-ID GTR C1846006
been described in the scientific literature. ectodermal dysplasia, which is a group of conditions characterized by abnormal code memo related-gene gene-symbol ghr-page HED-ID db key
development of ectodermal tissues including the skin, hair, teeth, and sweat xr X-linked recessive NFKBIA https://ghr.nlm.nih.gov/gene/NFKBIA hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia GTR C1846007
glands. In addition, immune system function is reduced in people with EDA-ID. hypohidrotic ectodermal dysplasia with immune deficiency db key
The signs and symptoms of EDA-ID are evident soon after birth, and due to the ICD-10-CM Q82.4
severity of the immune system problems, most people with this condition survive db key
only into childhood. MeSH D053358
html:p Skin abnormalities in children with EDA-ID include areas that are dry, wrinkled, db key
or darker in color than the surrounding skin. Affected individuals tend to have OMIM 300291
sparse scalp and body hair (hypotrichosis). EDA-ID is also characterized by db key
missing teeth (hypodontia) or teeth that are small and pointed. Most children Orphanet 98813
with EDA-ID have a reduced ability to sweat (hypohidrosis) because they have db key
fewer sweat glands than normal or their sweat glands do not function properly. SNOMED CT 703525006
An inability to sweat (anhidrosis) can lead to a dangerously high body
temperature (hyperthermia), particularly in hot weather and during exercise,
because the body cannot cool itself by evaporating sweat.
html:p The immune deficiency in EDA-ID varies among individuals with this condition.
Children with EDA-ID often produce abnormally low levels of proteins called
antibodies or immunoglobulins. Antibodies help protect the body against
infection by attaching to specific foreign particles and germs, marking them for
destruction. A reduction in antibodies makes it difficult for children with
this disorder to fight off infections. In EDA-ID, immune system cells called T
cells and B cells have a decreased ability to recognize and respond to foreign
invaders (such as bacteria, viruses, and yeast) that have sugar molecules
attached to their surface (glycan antigens). Other key aspects of the immune
system may also be impaired, leading to recurrent infections.
html:p Children with EDA-ID commonly get infections in the lungs (pneumonia), ears
(otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones,
and gastrointestinal tract. Approximately one quarter of individuals with EDA-ID
have disorders involving abnormal inflammation, such as inflammatory bowel
disease or rheumatoid arthritis.
X-linked recessive EDA-ID html:p There are two forms of EDA-ID that have similar signs and symptoms and are
autosomal dominant EDA-ID distinguished by the modes of inheritance: X-linked recessive or autosomal
dominant.
108 Aniridia https://ghr.nlm.nih.gov/condition/aniridia Aniridia occurs in 1 in 50,000 to 100,000 newborns worldwide. html code memo related-gene gene-symbol ghr-page absent iris db key 2009-06 2017-12-29
先天性虹膜缺损 html:p Aniridia is an eye disorder characterized by a complete or partial absence of ad autosomal dominant PAX6 https://ghr.nlm.nih.gov/gene/PAX6 congenital aniridia GTR C0003076
無虹膜症 the colored part of the eye (the iris). These iris abnormalities may cause the irideremia db key
pupils to be abnormal or misshapen. Aniridia can cause reduction in the GeneReviews aniridia
sharpness of vision (visual acuity) and increased sensitivity to light db key
(photophobia). ICD-10-CM Q13.1
html:p People with aniridia can also have other eye problems. Increased pressure in db key
the eye (glaucoma) typically appears in late childhood or early adolescence. MeSH D015783
Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent db key
of people with aniridia. In about 10 percent of affected people, the structures OMIM 106210
that carry information from the eyes to the brain (optic nerves) are db key
underdeveloped. Individuals with aniridia may also have involuntary eye Orphanet 77
movements (nystagmus) or underdevelopment of the region at the back of the eye db key
responsible for sharp central vision (foveal hypoplasia). Many of these eye SNOMED CT 253231007
problems contribute to progressive vision loss in affected individuals. The db key
severity of symptoms is typically the same in both eyes. SNOMED CT 253232000
html:p Rarely, people with aniridia have behavioral problems, developmental delay, and db key
problems detecting odors. SNOMED CT 69278003
109 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-p AEC syndrome is a rare condition; its prevalence is unknown. All forms of html code memo related-gene gene-symbol ghr-page AEC syndrome db key 2011-06 2017-12-29
alate-syndrome ectodermal dysplasia together occur in about 1 in 100,000 newborns in the United html:p Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ad autosomal dominant TP63 https://ghr.nlm.nih.gov/gene/TP63 ankyloblepharon-ectodermal defects-cleft lip and palate syndrome GTR C0406709
States. ectodermal dysplasia, a group of about 150 conditions characterized by abnormal Hay-Wells syndrome db key
development of ectodermal tissues including the skin, hair, nails, teeth, and GTR C1785148
sweat glands. db key
html:p Among the most common features of AEC syndrome are missing patches of skin GeneReviews aec
(erosions). In affected infants, skin erosions most commonly occur on the scalp. db key
They tend to recur throughout childhood and into adulthood, frequently MeSH D004476
affecting the scalp, neck, hands, and feet. The skin erosions range from mild to db key
severe and can lead to infection, scarring, and hair loss. Other ectodermal OMIM 106260
abnormalities in AEC syndrome include changes in skin coloring; brittle, sparse, db key
or missing hair; misshapen or absent fingernails and toenails; and malformed or OMIM 129400
missing teeth. Affected individuals also report increased sensitivity to heat db key
and a reduced ability to sweat. Orphanet 1071
html:p Many infants with AEC syndrome are born with an eyelid condition known as db key
ankyloblepharon filiforme adnatum, in which strands of tissue partially or SNOMED CT 55821006
completely fuse the upper and lower eyelids. Most people with AEC syndrome are
also born with an opening in the roof of the mouth (a cleft palate), a split in
the lip (a cleft lip), or both. Cleft lip or cleft palate can make it difficult
for affected infants to suck, so these infants often have trouble feeding and do
not grow and gain weight at the expected rate (failure to thrive).
html:p Additional features of AEC syndrome can include limb abnormalities, most
commonly fused fingers and toes (syndactyly). Less often, affected individuals
have permanently bent fingers and toes (camptodactyly) or a deep split in the
hands or feet with missing fingers or toes and fusion of the remaining digits
(ectrodactyly). Hearing loss is common, occurring in more than 90 percent of
children with AEC syndrome. Some affected individuals have distinctive facial
features, such as small jaws that cannot open fully and a narrow space between
the upper lip and nose (philtrum). Other signs and symptoms can include the
opening of the urethra on the underside of the penis (hypospadias) in affected
males, digestive problems, absent tear duct openings in the eyes, and chronic
sinus or ear infections.
Rapp-Hodgkin html:p A condition known as Rapp-Hodgkin syndrome has signs and symptoms that overlap
considerably with those of AEC syndrome. These two syndromes were classified as
separate disorders until it was discovered that they both result from mutations
in the same part of the same gene. Most researchers now consider Rapp-Hodgkin
syndrome and AEC syndrome to be part of the same disease spectrum.
110 Ankylosing spondylitis https://ghr.nlm.nih.gov/condition/ankylosing-spondylitis Ankylosing spondylitis is part of a group of related diseases known as html code memo related-gene gene-symbol ghr-page AS db key 2014-09 2017-12-29
強直性脊柱炎 spondyloarthropathies. In the United States, spondyloarthropathies affect 3.5 html:p Ankylosing spondylitis is a form of ongoing joint inflammation (chronic u pattern unknown ERAP1 https://ghr.nlm.nih.gov/gene/ERAP1 Bechterew disease GTR C0038013
to 13 per 1,000 people. inflammatory arthritis) that primarily affects the spine. This condition is related-gene gene-symbol ghr-page Marie-Struempell disease db key
characterized by back pain and stiffness that typically appear in adolescence or HLA-B https://ghr.nlm.nih.gov/gene/HLA-B spondylarthritis ankylopoietica ICD-10-CM M08.1
spondyloarthropathies. In the United States, spondyloarthropathies affect 3.5 related-gene gene-symbol ghr-page spondylitis ankylopoietica db key
to 13 per 1,000 people. IL1A https://ghr.nlm.nih.gov/gene/IL1A spondylitis, ankylosing ICD-10-CM M45
called ankylosis. related-gene gene-symbol ghr-page spondyloarthritis ankylopoietica db key
html:p The earliest symptoms of ankylosing spondylitis result from inflammation of the IL23R https://ghr.nlm.nih.gov/gene/IL23R ICD-10-CM M45.0
joints between the pelvic bones (the ilia) and the base of the spine (the db key
sacrum). These joints are called sacroiliac joints, and inflammation of these ICD-10-CM M45.1
joints is known as sacroiliitis. The inflammation gradually spreads to the db key
joints between the vertebrae, causing a condition called spondylitis. Ankylosing ICD-10-CM M45.2
spondylitis can involve other joints as well, including the shoulders, hips, db key
and, less often, the knees. As the disease progresses, it can affect the joints ICD-10-CM M45.3
between the spine and ribs, restricting movement of the chest and making it db key
difficult to breathe deeply. People with advanced disease are also more prone ICD-10-CM M45.4
to fractures of the vertebrae. db key
html:p Ankylosing spondylitis affects the eyes in up to 40 percent of cases, leading to ICD-10-CM M45.5
episodes of eye inflammation called acute iritis. Acute iritis causes eye pain db key
and increased sensitivity to light (photophobia). Rarely, ankylosing spondylitis ICD-10-CM M45.6
can also cause serious complications involving the heart, lungs, and nervous db key
system. ICD-10-CM M45.7
db key
ICD-10-CM M45.8
db key
ICD-10-CM M45.9
db key
MeSH D013167
db key
OMIM 106300
db key
Orphanet 825
db key
SNOMED CT 9631008
111 Ankyrin-B syndrome https://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome Ankyrin-B syndrome is a rare disorder. Its prevalence is unknown. html code memo related-gene gene-symbol ghr-page cardiac arrhythmia, ankyrin-B-related db key 2017-03 2017-12-29
html:p Ankyrin-B syndrome is associated with a variety of heart problems related to ad autosomal dominant ANK2 https://ghr.nlm.nih.gov/gene/ANK2 GTR C1970119
disruption of the heart's normal rhythm (arrhythmia). Heart rhythm is controlled db key
by electrical signals that move through the heart in a highly coordinated way. GeneReviews rws
In ankyrin-B syndrome, disruption of different steps of electrical signaling can db key
lead to arrhythmia, and the resulting heart problems vary among affected MeSH D001145
individuals. db key
html:p Individuals with ankyrin-B syndrome may have problems with the sinoatrial (SA) OMIM 600919
node, which generates the electrical impulses that start each heartbeat. If the
SA node is not functioning properly, the heartbeat can be too slow
(bradycardia). In a small number of people with ankyrin-B syndrome, the heart
takes longer than usual to recharge between beats, which is known as a prolonged
QT interval (long QT). Some affected individuals have impaired progression
(conduction) of electrical impulses between the chambers of the heart, which can
cause a problem called heart block. Other heart problems that occur in
ankyrin-B syndrome include irregular and uncoordinated electrical activity in
the heart's upper chambers (atrial fibrillation) or lower chambers (ventricular
fibrillation) and an abnormality called catecholaminergic polymorphic
ventricular tachycardia (CPVT), in which an increase in the heart rate can
trigger an abnormally fast and irregular heartbeat called ventricular
tachycardia. In people with ankyrin-B syndrome, arrhythmia can lead to fainting
(syncope) or cardiac arrest and sudden death.
html:p When associated with a prolonged QT interval, the condition is sometimes
classified as long QT syndrome 4. However, because additional heart problems can
result from changes in the same gene, long QT syndrome 4 is usually considered
part of ankyrin-B syndrome.
112 Anonychia congenita https://ghr.nlm.nih.gov/condition/anonychia-congenita Anonychia congenita is a rare condition; its prevalence is unknown. html code memo related-gene gene-symbol ghr-page absent nails db key 2017-05 2017-12-29
html:p Anonychia congenita is a condition that affects the fingernails and toenails. ar autosomal recessive RSPO4 https://ghr.nlm.nih.gov/gene/RSPO4 anonychia GTR C0265998
Individuals with this condition are typically missing all of their fingernails aplastic nails db key
and toenails (anonychia). This absence of nails is noticeable from birth congenital absence of nails ICD-10-CM Q84.3
(congenital). In some cases, only part of the nail is missing (hyponychia) or hyponychia congenita db key
not all fingers and toes are affected. All of the other tissues at the tips of MeSH D009264
the fingers and toes, including structures that usually support the nail and its db key
growth (such as the nail bed), are normal. OMIM 206800
html:p Individuals with anonychia congenita do not have any other health problems db key
related to the condition. Orphanet 79143
db key
SNOMED CT 23610003
113 Antiphospholipid syndrome https://ghr.nlm.nih.gov/condition/antiphospholipid-syndrome The exact prevalence of antiphospholipid syndrome is unknown. This html code memo synonym anti-phospholipid syndrome db-key key 2017-12-29
抗磷脂症候群( condition is thought to be fairly common, and may be responsible for up to one html:p Antiphospholipid syndrome is a disorder characterized by an increased tendency u pattern unknown synonym antiphospholipid antibody syndrome C0085278
percent of all thromboses. It is estimated that 20 percent of individuals to form abnormal blood clots (thromboses) that can block blood vessels. This synonym Hughes syndrome db-key key
younger than age 50 who have a stroke have antiphospholipid syndrome. Ten to 15 clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the D68.61
percent of people with systemic lupus erythematosus have antiphospholipid thromboses can develop in nearly any blood vessel in the body, but most db-key key
syndrome. Similarly, 10 to 15 percent of women with recurrent miscarriages frequently occur in the vessels of the lower limbs. If a blood clot forms in the D016736
likely have this condition. Approximately 70 percent of individuals diagnosed vessels in the brain, blood flow is impaired and can lead to stroke. db-key key
with antiphospholipid syndrome are female. Antiphospholipid syndrome is an autoimmune disorder. Autoimmune disorders occur 107320
when the immune system attacks the body's own tissues and organs. db-key key
html:p Women with antiphospholipid syndrome are at increased risk of complications 80
during pregnancy. These complications include pregnancy-induced high blood db-key key
pressure (preeclampsia), an underdeveloped placenta (placental insufficiency), 19267009
early delivery, or pregnancy loss (miscarriage). In addition, women with db-key key
antiphospholipid syndrome are at greater risk of having a thrombosis during 239892009
pregnancy than at other times during their lives. At birth, infants of mothers db-key key
with antiphospholipid syndrome may be small and underweight. 239895006
html:p A thrombosis or pregnancy complication is typically the first sign of db-key key
antiphospholipid syndrome. This condition usually appears in early to 26843008
mid-adulthood but can begin at any age. db-key key
html:p Other signs and symptoms of antiphospholipid syndrome that affect blood cells 72161000119100
and vessels include a reduced amount of cell fragments involved in blood
clotting called platelets (thrombocytopenia), a shortage of red blood cells
(anemia) due to their premature breakdown (hemolysis), and a purplish skin
discoloration (livedo reticularis) caused by abnormalities in the tiny blood
vessels of the skin. In addition, affected individuals may have open sores
(ulcers) on the skin, migraine headaches, heart disease, or intellectual
disability. Many people with antiphospholipid syndrome also have other
autoimmune disorders such as systemic lupus erythematosus.
html:p Rarely, people with antiphospholipid syndrome develop thromboses in multiple
blood vessels throughout their body. These thromboses block blood flow in
affected organs, which impairs their function and ultimately causes organ
failure. These individuals are said to have catastrophic antiphospholipid
syndrome (CAPS). CAPS typically affects the kidneys, lungs, brain, heart, and
liver, and is fatal in over half of affected individuals. Less than 1 percent of
individuals with antiphospholipid syndrome develop CAPS.
114 Apert syndrome https://ghr.nlm.nih.gov/condition/apert-syndrome Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns. html code memo related-gene gene-symbol ghr-page Acrocephalosyndactyly (Apert) db key 2008-02 2017-12-29
亞伯氏症 html:p Apert syndrome is a genetic disorder characterized by the premature fusion of ad autosomal dominant FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 GTR C0001193
愛伯特氏症 certain skull bones (craniosynostosis). This early fusion prevents the skull db key
from growing normally and affects the shape of the head and face. In addition, a GeneReviews craniosynostosis
varied number of fingers and toes are fused together (syndactyly). db key
html:p Many of the characteristic facial features of Apert syndrome result from the MeSH D000168
premature fusion of the skull bones. The head is unable to grow normally, which db key
leads to a sunken appearance in the middle of the face, bulging and wide-set OMIM 101200
eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth db key
and other dental problems. Shallow eye sockets can cause vision problems. Early Orphanet 87
fusion of the skull bones also affects the development of the brain, which can db key
disrupt intellectual development. Cognitive abilities in people with Apert Orphanet 1531
syndrome range from normal to mild or moderate intellectual disability. db key
html:p Individuals with Apert syndrome have webbed or fused fingers and toes. The SNOMED CT 205258009
severity of the fusion varies; at a minimum, three digits on each hand and foot
are fused together. In the most severe cases, all of the fingers and toes are
fused. Less commonly, people with this condition may have extra fingers or toes
(polydactyly). Additional signs and symptoms of Apert syndrome can include
hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe
acne, patches of missing hair in the eyebrows, fusion of spinal bones in the
neck (cervical vertebrae), and recurrent ear infections that may be associated
with an opening in the roof of the mouth (a cleft palate).
115 Arginase deficiency https://ghr.nlm.nih.gov/condition/arginase-deficiency Arginase deficiency is a very rare disorder; it has been estimated to occur html code memo related-gene gene-symbol ghr-page ARG1 deficiency db key 2013-08 2017-12-29
精氨酸酶缺乏症 once in every 300,000 to 1,000,000 individuals. html:p Arginase deficiency is an inherited disorder that causes the amino acid arginine ar autosomal recessive ARG1 https://ghr.nlm.nih.gov/gene/ARG1 Arginase Deficiency Disease GTR C0268548
(a building block of proteins) and ammonia to accumulate gradually in the Argininemia db key
blood. Ammonia, which is formed when proteins are broken down in the body, is Hyperargininemia GeneReviews arg1
toxic if levels become too high. The nervous system is especially sensitive to db key
the effects of excess ammonia. GeneReviews ucd-overview
html:p Arginase deficiency usually becomes evident by about the age of 3. It most often db key
appears as stiffness, especially in the legs, caused by abnormal tensing of the ICD-10-CM E72.21
muscles (spasticity). Other symptoms may include slower than normal growth, db key
developmental delay and eventual loss of developmental milestones, intellectual MeSH D020162
disability, seizures, tremor, and difficulty with balance and coordination db key
(ataxia). Occasionally, high protein meals or stress caused by illness or OMIM 207800
periods without food (fasting) may cause ammonia to accumulate more quickly in db key
the blood. This rapid increase in ammonia may lead to episodes of irritability, Orphanet 90
refusal to eat, and vomiting. db key
html:p In some affected individuals, signs and symptoms of arginase deficiency may be SNOMED CT 23501004
less severe, and may not appear until later in life.
116 Arginine:glycine amidinotransferase deficiency https://ghr.nlm.nih.gov/condition/arginineglycine-amidinotransferase-deficiency The prevalence of arginine:glycine amidinotransferase deficiency is html code memo related-gene gene-symbol ghr-page AGAT deficiency db key 2015-12 2017-12-29
unknown. The disorder has been identified in only a few families. html:p Arginine:glycine amidinotransferase deficiency is an inherited disorder that ar autosomal recessive GATM https://ghr.nlm.nih.gov/gene/GATM cerebral creatine deficiency syndrome 3 GTR C2675179
primarily affects the brain. People with this disorder have mild to moderate creatine deficiency syndrome due to AGAT deficiency db key
intellectual disability and delayed speech development. Some affected GATM deficiency GeneReviews creatine
individuals develop autistic behaviors that affect communication and social l-arginine:glycine amidinotransferase deficiency db key
interaction. They may experience seizures, especially when they have a fever. l-arginine:glycine aminidotransferase deficiency MeSH D020739
html:p Children with arginine:glycine amidinotransferase deficiency may not gain weight db key
and grow at the expected rate (failure to thrive), and have delayed development OMIM 612718
of motor skills such as sitting and walking. Affected individuals may also have db key
weak muscle tone and tend to tire easily. Orphanet 35704
db key
SNOMED CT 702440000
117 Argininosuccinic aciduria https://ghr.nlm.nih.gov/condition/argininosuccinic-aciduria Argininosuccinic aciduria occurs in approximately 1 in 70,000 newborns. html code memo related-gene gene-symbol ghr-page Argininosuccinate lyase deficiency db key 2007-03 2017-12-29
精氨基琥珀酸尿症 html:p Argininosuccinic aciduria is an inherited disorder that causes ammonia to ar autosomal recessive ASL https://ghr.nlm.nih.gov/gene/ASL argininosuccinic acidemia GTR C0268547
accumulate in the blood. Ammonia, which is formed when proteins are broken down Argininosuccinicaciduria db key
in the body, is toxic if the levels become too high. The nervous system is argininosuccinyl-CoA lyase deficiency GeneReviews args-aciduria
especially sensitive to the effects of excess ammonia. arginosuccinase deficiency db key
html:p Argininosuccinic aciduria usually becomes evident in the first few days of life. ASA GeneReviews ucd-overview
An infant with argininosuccinic aciduria may be lacking in energy (lethargic) ASAuria db key
or unwilling to eat, and have poorly controlled breathing rate or body ASL deficiency ICD-10-CM E72.22
temperature. Some babies with this disorder experience seizures or unusual body db key
movements, or go into a coma. Complications from argininosuccinic aciduria may MeSH D056807
include developmental delay and intellectual disability. Progressive liver db key
damage, skin lesions, and brittle hair may also be seen. OMIM 207900
html:p Occasionally, an individual may inherit a mild form of the disorder in which db key
ammonia accumulates in the bloodstream only during periods of illness or other Orphanet 23
stress. db key
Aristaless Related homeobox / XLAG Syndrome
性聯遺傳的平腦症
SNOMED CT 41013004
118 Aromatase deficiency https://ghr.nlm.nih.gov/condition/aromatase-deficiency The prevalence of aromatase deficiency is unknown; approximately 20 cases html code memo related-gene gene-symbol ghr-page 46,XX disorder of sex development (DSD) due to placental aromatase deficiency db key 2014-04 2017-12-29
芳香環轉化酶缺乏症 have been described in the medical literature. html:p Aromatase deficiency is a condition characterized by reduced levels of the ar autosomal recessive CYP19A1 https://ghr.nlm.nih.gov/gene/CYP19A1 estrogen synthetase deficiency GTR C0878680
female sex hormone estrogen and increased levels of the male sex hormone oestrogen synthetase deficiency db key
testosterone. placental aromatase deficiency MeSH D017588
html:p Females with aromatase deficiency have a typical female chromosome pattern db key
(46,XX) but are born with external genitalia that do not appear clearly female OMIM 613546
or male (ambiguous genitalia). These individuals typically have normal internal db key
reproductive organs, but develop ovarian cysts early in childhood, which impair SNOMED CT 425708006
the release of egg cells from the ovaries (ovulation). In adolescence, most db key
affected females do not develop secondary sexual characteristics, such as breast SNOMED CT 427627006
growth and menstrual periods. They tend to develop acne and excessive body hair
growth (hirsutism).
html:p Men with this condition have a typical male chromosome pattern (46,XY) and are
born with male external genitalia. Some men with this condition have decreased
sex drive, abnormal sperm production, or testes that are small or undescended
(cryptorchidism).
html:p There are other features associated with aromatase deficiency that can affect
both males and females. Affected individuals are abnormally tall because of
excessive growth of long bones in the arms and legs. The abnormal bone growth
results in slowed mineralization of bones (delayed bone age) and thinning of the
bones (osteoporosis), which can lead to bone fractures with little trauma.
Males and females with aromatase deficiency can have abnormally high blood sugar
(hyperglycemia) because the body does not respond correctly to the hormone
insulin. In addition, they can have excessive weight gain and a fatty liver.
html:p Women who are pregnant with fetuses that have aromatase deficiency often
experience mild symptoms of the disorder even though they themselves do not have
the disorder. These women may develop hirsutism, acne, an enlarged clitoris
(clitoromegaly), and a deep voice. These features can appear as early as 12
weeks of pregnancy and go away soon after delivery.
119 Aromatase excess syndrome https://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome The prevalence of aromatase excess syndrome is unknown; more than 20 cases html code memo related-gene gene-symbol ghr-page AEXS db key 2014-04 2017-12-29
have been described in the medical literature. html:p Aromatase excess syndrome is a condition characterized by elevated levels of the ad autosomal dominant CYP19A1 https://ghr.nlm.nih.gov/gene/CYP19A1 familial gynecomastia due to increased aromatase activity GTR C1841762
female sex hormone estrogen in both males and females. Males with aromatase hereditary gynecomastia db key
excess syndrome experience breast enlargement (gynecomastia) in late childhood increased aromatase activity MeSH D012734
or adolescence. The bones of affected males grow and develop more quickly and db key
stop growing sooner than usual (advanced bone age). As a result males have an OMIM 139300
early growth spurt, typically during late childhood, with short stature as an db key
adult. Affected females rarely show signs and symptoms of the condition, but Orphanet 178345
they may have increased breast growth (macromastia), irregular menstrual db key
periods, and short stature. The ability to have children (fertility) is usually SNOMED CT 709075008
normal in both males and females with aromatase excess syndrome.
120 Aromatic l-amino acid decarboxylase deficiency, AADC https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency AADC deficiency is a rare disorder. Only about 100 people with this html code memo related-gene gene-symbol ghr-page AADC deficiency db key 2008-05 2017-12-29
芳香族L-胺基酸類脫羧基酶缺乏症 condition have been described in the medical literature worldwide; about 20 html:p Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder ar autosomal recessive DDC https://ghr.nlm.nih.gov/gene/DDC DDC deficiency GTR C1291564
percent of these individuals are from Taiwan. that affects the way signals are passed between certain cells in the nervous deficiency of aromatic-L-amino-acid decarboxylase db key
system. dopa decarboxylase deficiency MeSH D000592
html:p Signs and symptoms of AADC deficiency generally appear in the first year of db key
life. Affected infants may have severe developmental delay, weak muscle tone OMIM 608643
(hypotonia), muscle stiffness, difficulty moving, and involuntary writhing db key
movements of the limbs (athetosis). They may be lacking in energy (lethargic), Orphanet 35708
feed poorly, startle easily, and have sleep disturbances. People with AADC db key
deficiency may also experience episodes called oculogyric crises that involve SNOMED CT 124600004
abnormal rotation of the eyeballs; extreme irritability and agitation; and pain,
muscle spasms, and uncontrolled movements, especially of the head and neck.
html:p AADC deficiency may affect the autonomic nervous system, which controls
involuntary body processes such as the regulation of blood pressure and body
temperature. Resulting signs and symptoms can include droopy eyelids (ptosis),
constriction of the pupils of the eyes (miosis), inappropriate or impaired
sweating, nasal congestion, drooling, reduced ability to control body
temperature, low blood pressure (hypotension), backflow of acidic stomach
contents into the esophagus (gastroesophageal reflux), low blood sugar
(hypoglycemia), fainting (syncope), and cardiac arrest.
html:p Signs and symptoms of AADC deficiency tend to worsen late in the day or when the
individual is tired, and improve after sleep.
121 Arrhythmogenic right ventricular cardiomyopathy https://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopath ARVC occurs in an estimated 1 in 1,000 to 1 in 1,250 people. This disorder html code memo related-gene gene-symbol ghr-page arrhythmogenic right ventricular cardiomyopathy-dysplasia db key 2010-05 2017-12-29
致心律失常性右室心肌病 y may be underdiagnosed because it can be difficult to detect in people with mild html:p Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart ad autosomal dominant DSC2 https://ghr.nlm.nih.gov/gene/DSC2 arrhythmogenic right ventricular dysplasia GTR C0349788
or no symptoms. disease that usually appears in adulthood. ARVC is a disorder of the myocardium, code memo related-gene gene-symbol ghr-page arrhythmogenic right ventricular dysplasia/cardiomyopathy db key
which is the muscular wall of the heart. This condition causes part of the ar autosomal recessive DSG2 https://ghr.nlm.nih.gov/gene/DSG2 ARVC GTR C1832931
myocardium to break down over time, increasing the risk of an abnormal heartbeat related-gene gene-symbol ghr-page ARVD db key
(arrhythmia) and sudden death. DSP https://ghr.nlm.nih.gov/gene/DSP ARVD/C GTR C1836704
html:p ARVC may not cause any symptoms in its early stages. However, affected related-gene gene-symbol ghr-page right ventricular dysplasia, arrhythmogenic db key
individuals may still be at risk of sudden death, especially during strenuous JUP https://ghr.nlm.nih.gov/gene/JUP ventricular dysplasia, right, arrhythmogenic GTR C1836906
exercise. When symptoms occur, they most commonly include a sensation of related-gene gene-symbol ghr-page db key
fluttering or pounding in the chest (palpitations), light-headedness, and PKP2 https://ghr.nlm.nih.gov/gene/PKP2 GTR C1843896
fainting (syncope). Over time, ARVC can also cause shortness of breath and related-gene gene-symbol ghr-page db key
abnormal swelling in the legs or abdomen. If the myocardium becomes severely RYR2 https://ghr.nlm.nih.gov/gene/RYR2 GTR C1857777
damaged in the later stages of the disease, it can lead to heart failure. related-gene gene-symbol ghr-page db key
TGFB3 https://ghr.nlm.nih.gov/gene/TGFB3 GTR C1858378
related-gene gene-symbol ghr-page db key
TMEM43 https://ghr.nlm.nih.gov/gene/TMEM43 GTR C1858379
db key
GTR C1862511
db key
GTR C1864850
db key
GTR C1865881
db key
GTR C1865882
db key
GTR C1969081
db key
GTR CN128708
db key
GeneReviews arvd
db key
MeSH D019571
db key
OMIM 107970
db key
OMIM 600996
db key
OMIM 602086
db key
OMIM 602087
db key
OMIM 604400
db key
OMIM 604401
db key
OMIM 607450
db key
OMIM 609040
db key
OMIM 610193
db key
OMIM 610476
db key
OMIM 611528
db key
Orphanet 247
db key
Orphanet 217656
db key
SNOMED CT 253528005
db key
SNOMED CT 281170005
122 Arterial tortuosity syndrome https://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome Arterial tortuosity syndrome is a rare disorder; its prevalence is unknown. html code memo related-gene gene-symbol ghr-page arterial tortuosity db key 2015-11 2017-12-29
About 100 cases have been reported in the medical literature. html:p Arterial tortuosity syndrome is a disorder that affects connective tissue. ar autosomal recessive SLC2A10 https://ghr.nlm.nih.gov/gene/SLC2A10 ATS GTR C1859726
Connective tissue provides strength and flexibility to structures throughout the db key
body, including blood vessels, skin, joints, and the gastrointestinal tract. GeneReviews arterial-t
html:p As its name suggests, arterial tortuosity syndrome is characterized by blood db key
vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the MeSH D054079
blood vessels that carry blood from the heart to the rest of the body (the db key
arteries). Tortuosity arises from abnormal elongation of the arteries; since the OMIM 208050
end points of the arteries are fixed, the extra length twists and curves. Other db key
blood vessel abnormalities that may occur in this disorder include constriction Orphanet 3342
(stenosis) and abnormal bulging (aneurysm) of vessels, as well as small db key
clusters of enlarged blood vessels just under the skin (telangiectasia). SNOMED CT 458432002
html:p Complications resulting from the abnormal arteries can be life-threatening.
Rupture of an aneurysm or sudden tearing (dissection) of the layers in an
arterial wall can result in massive loss of blood from the circulatory system.
Blockage of blood flow to vital organs such as the heart, lungs, or brain can
lead to heart attacks, respiratory problems, and strokes. Stenosis of the
arteries forces the heart to work harder to pump blood and may lead to heart
failure. As a result of these complications, arterial tortuosity syndrome is
often fatal in childhood, although some individuals with mild cases of the
disorder live into adulthood.
html:p Features of arterial tortuosity syndrome outside the circulatory system are
caused by abnormal connective tissue in other parts of the body. These features
include joints that are either loose and very flexible (hypermobile) or that
have deformities limiting movement (contractures), and unusually soft and
stretchable skin. Some affected individuals have long, slender fingers and toes
(arachnodactyly); curvature of the spine (scoliosis); or a chest that is either
sunken (pectus excavatum) or protruding (pectus carinatum). They may have
protrusion of organs through gaps in muscles (hernias), elongation of the
intestines, or pouches called diverticula in the intestinal walls.
html:p People with arterial tortuosity syndrome often look older than their age and
have distinctive facial features including a long, narrow face with droopy
cheeks; eye openings that are narrowed (blepharophimosis) with outside corners
that point downward (downslanting palpebral fissures); a beaked nose with soft
cartilage; a high, arched roof of the mouth (palate); a small lower jaw
(micrognathia); and large ears. The cornea, which is the clear front covering of
the eye, may be cone-shaped and abnormally thin (keratoconus).
123 Arts syndrome https://ghr.nlm.nih.gov/condition/arts-syndrome Arts syndrome appears to be extremely rare. Only a few families with this html code memo related-gene gene-symbol ghr-page ataxia-deafness-optic atrophy, lethal db key 2014-09 2017-12-29
disorder have been described in the medical literature. html:p Arts syndrome is a disorder that causes serious neurological problems in males. xd X-linked dominant PRPS1 https://ghr.nlm.nih.gov/gene/PRPS1 ataxia, fatal X-linked, with deafness and loss of vision GTR C0796028
Females can also be affected by this condition, but they typically have much db key
milder symptoms. GeneReviews arts
html:p Boys with Arts syndrome have profound sensorineural hearing loss, which is a db key
complete or almost complete loss of hearing caused by abnormalities in the inner MeSH D009422
ear. Other features of the disorder include weak muscle tone (hypotonia), db key
impaired muscle coordination (ataxia), developmental delay, and intellectual OMIM 301835
disability. In early childhood, affected boys develop vision loss caused by db key
degeneration of nerves that carry information from the eyes to the brain (optic Orphanet 1187
nerve atrophy). They also experience loss of sensation and weakness in the limbs db key
(peripheral neuropathy). SNOMED CT 702441001
html:p Boys with Arts syndrome also usually have recurrent infections, especially
involving the respiratory system. Because of these infections and their
complications, affected boys often do not survive past early childhood.
html:p In females with Arts syndrome, hearing loss that begins in adulthood may be the
only symptom.
124 Aspartylglucosaminuria https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in html code memo related-gene gene-symbol ghr-page AGA deficiency db key 2008-12 2017-12-29
Finland. This condition is less common outside of Finland, but the incidence is html:p Aspartylglucosaminuria is a condition that causes a progressive decline in ar autosomal recessive AGA https://ghr.nlm.nih.gov/gene/AGA aspartylglucosamidase deficiency GTR C0268225
unknown. mental functioning. Aspartylglucosaminidase deficiency db key
html:p Infants with aspartylglucosaminuria appear healthy at birth, and development is aspartylglycosaminuria ICD-10-CM E77.1
typically normal throughout early childhood. The first sign of this condition, glycosylasparaginase deficiency db key
evident around the age of 2 or 3, is usually delayed speech. Mild intellectual MeSH D054880
disability then becomes apparent, and learning occurs at a slowed pace. db key
Intellectual disability progressively worsens in adolescence. Most people with OMIM 208400
this disorder lose much of the speech they have learned, and affected adults db key
usually have only a few words in their vocabulary. Adults with Orphanet 93
aspartylglucosaminuria may develop seizures or problems with movement. db key
html:p People with this condition may also have bones that become progressively weak SNOMED CT 54954004
and prone to fracture (osteoporosis), an unusually large range of joint movement
(hypermobility), and loose skin. Affected individuals tend to have a
characteristic facial appearance that includes widely spaced eyes (ocular
hypertelorism), small ears, and full lips. The nose is short and broad and the
face is usually square-shaped. Children with this condition may be tall for
their age, but lack of a growth spurt in puberty typically causes adults to be
short. Affected children also tend to have frequent upper respiratory
infections. Individuals with aspartylglucosaminuria usually survive into
mid-adulthood.
125 Asphyxiating thoracic dystrophy https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to html code memo related-gene gene-symbol ghr-page asphyxiating thoracic chondrodystrophy db key 2015-05 2017-12-29
窒息性胸腔失養症 130,000 people. html:p Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited ar autosomal recessive CEP120 https://ghr.nlm.nih.gov/gene/CEP120 asphyxiating thoracic dysplasia GTR C0265275
Jeune thoracic dystrophy disorder of bone growth characterized by a narrow chest, short ribs, shortened related-gene gene-symbol ghr-page ATD db key
窒息性胸廓發育不良 bones in the arms and legs, short stature, and extra fingers and toes CSPP1 https://ghr.nlm.nih.gov/gene/CSPP1 chondroectodermal dysplasia-like syndrome GTR C1970005
(polydactyly). Additional skeletal abnormalities can include unusually shaped related-gene gene-symbol ghr-page infantile thoracic dystrophy db key
collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long DYNC2H1 https://ghr.nlm.nih.gov/gene/DYNC2H1 Jeune syndrome GTR C3151185
bones in the arms and legs. Many infants with this condition are born with an related-gene gene-symbol ghr-page Jeune thoracic dysplasia db key
extremely narrow, bell-shaped chest that can restrict the growth and expansion IFT80 https://ghr.nlm.nih.gov/gene/IFT80 Jeune thoracic dystrophy GTR C3280598
of the lungs. Life-threatening problems with breathing result, and people with related-gene gene-symbol ghr-page thoracic asphyxiant dystrophy db key
asphyxiating thoracic dystrophy may live only into infancy or early childhood. IFT140 https://ghr.nlm.nih.gov/gene/IFT140 thoracic-pelvic-phalangeal dystrophy GTR CN119532
However, in people who survive beyond the first few years, the narrow chest and related-gene gene-symbol ghr-page db key
related breathing problems can improve with age. IFT172 https://ghr.nlm.nih.gov/gene/IFT172 ICD-10-CM Q77.2
html:p Some people with asphyxiating thoracic dystrophy are born with less severe related-gene gene-symbol ghr-page db key
skeletal abnormalities and have only mild breathing difficulties, such as rapid TTC21B https://ghr.nlm.nih.gov/gene/TTC21B MeSH D010009
breathing or shortness of breath. These individuals may live into adolescence or related-gene gene-symbol ghr-page db key
adulthood. After infancy, people with this condition may develop WDR19 https://ghr.nlm.nih.gov/gene/WDR19 OMIM 208500
life-threatening kidney (renal) abnormalities that cause the kidneys to related-gene gene-symbol ghr-page db key
malfunction or fail. Heart defects and a narrowing of the airway (subglottic WDR34 https://ghr.nlm.nih.gov/gene/WDR34 OMIM 263520
stenosis) are also possible. Other, less common features of asphyxiating related-gene gene-symbol ghr-page db key
thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the WDR35 https://ghr.nlm.nih.gov/gene/WDR35 OMIM 266920
pancreas, dental abnormalities, and an eye disease called retinal dystrophy that related-gene gene-symbol ghr-page db key
can lead to vision loss. WDR60 https://ghr.nlm.nih.gov/gene/WDR60 OMIM 611263
db key
OMIM 613091
db key
OMIM 613819
db key
OMIM 614091
db key
OMIM 614376
db key
OMIM 615503
db key
OMIM 615630
db key
OMIM 615633
db key
Orphanet 474
db key
SNOMED CT 75049004
126 Ataxia neuropathy spectrum https://ghr.nlm.nih.gov/condition/ataxia-neuropathy-spectrum The prevalence of ataxia neuropathy spectrum is unknown. html Ataxia neuropathy spectrum is part of a group of conditions called inheritance-pattern code memo related-gene gene-symbol synonym db-key db key 2011-06 2017-12-29
html:p the POLG-related disorders. The conditions in this group feature a range ad autosomal dominant POLG synonym GTR C1843851
of similar signs and symptoms involving muscle-, nerve-, and brain-related inheritance-pattern code memo related-gene gene-symbol synonym db-key db key
functions. Ataxia neuropathy spectrum now includes the conditions previously ar autosomal recessive TWNK synonym GeneReviews alpers
called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia synonym db-key db key
neuropathy dysarthria and ophthalmoplegia (SANDO). MeSH D028361
html:p As the name implies, people with ataxia neuropathy spectrum typically have db-key db key
problems with coordination and balance (ataxia) and disturbances in nerve OMIM 607459
function (neuropathy). The neuropathy can be classified as sensory, motor, or a db-key db key
combination of the two (mixed). Sensory neuropathy causes numbness, tingling, or Orphanet 70595
pain in the arms and legs, and motor neuropathy refers to disturbance in the db-key db key
nerves used for muscle movement. SNOMED CT 193165008
html:p Most people with ataxia neuropathy spectrum also have severe brain dysfunction
(encephalopathy) and seizures. Some affected individuals have weakness of the
external muscles of the eye (ophthalmoplegia), which leads to drooping eyelids
(ptosis). Other signs and symptoms can include involuntary muscle twitches
(myoclonus), liver disease, depression, migraine headaches, or blindness.
127 Ataxia-pancytopenia syndrome https://ghr.nlm.nih.gov/condition/ataxia-pancytopenia-syndrome Ataxia-pancytopenia syndrome appears to be very rare. At least 25 affected html code memo related-gene gene-symbol ghr-page ATXPC db key 2017-09 2017-12-29
individuals from four families have been described in the medical literature. html:p Ataxia-pancytopenia syndrome is a rare condition that affects the part of the ad autosomal dominant SAMD9L https://ghr.nlm.nih.gov/gene/SAMD9L myelocerebellar disorder GTR C1327919
brain that coordinates movement (the cerebellum) and blood-forming cells in the db key
bone marrow. The age when signs and symptoms begin, the severity of the GeneReviews samd9l-ap
condition, and the rate at which it worsens all vary among affected individuals. db key
html:p People with ataxia-pancytopenia syndrome have neurological problems associated MeSH D001259
with a loss of tissue (atrophy) and other changes in the cerebellum. These db key
problems include poor coordination and balance (ataxia), difficulty with MeSH D010198
movements that involve judging distance or scale (dysmetria), uncontrollable db key
muscle contractions (clonus), and involuntary back-and-forth eye movements OMIM 159550
(nystagmus). These neurological issues worsen over time, making walking and db key
other movements challenging. Some affected individuals eventually require OMIM 252270
wheelchair assistance. db key
html:p Ataxia-pancytopenia syndrome also causes a shortage of one or more types of Orphanet 2585
normal blood cells: red blood cells, white blood cells, and platelets. A
shortage of all three of these cell types is known as pancytopenia. Pancytopenia
can result in extreme tiredness (fatigue) due to low numbers of red blood cells
(anemia), frequent infections due to low numbers of white blood cells
(neutropenia), and abnormal bleeding due to low numbers of platelets
(thrombocytopenia). Ataxia-pancytopenia syndrome is also associated with an
increased risk of certain cancerous conditions of the blood, particularly
myelodysplastic syndrome and acute myeloid leukemia.
128 Ataxia-telangiectasia https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide. html code memo related-gene gene-symbol ghr-page A-T db key 2013-01 2017-12-29
共濟失調微血管擴張症候群 html:p Ataxia-telangiectasia is a rare inherited disorder that affects the nervous ar autosomal recessive ATM https://ghr.nlm.nih.gov/gene/ATM ataxia telangiectasia syndrome GTR C0004135
system, immune system, and other body systems. This disorder is characterized ATM db key
by progressive difficulty with coordinating movements (ataxia) beginning in Louis-Bar syndrome GeneReviews ataxia-telangiectas
early childhood, usually before age 5. Affected children typically develop telangiectasia, cerebello-oculocutaneous db key
difficulty walking, problems with balance and hand coordination, involuntary MeSH D001260
jerking movements (chorea), muscle twitches (myoclonus), and disturbances in db key
nerve function (neuropathy). The movement problems typically cause people to OMIM 208900
require wheelchair assistance by adolescence. People with this disorder also db key
have slurred speech and trouble moving their eyes to look side-to-side Orphanet 100
(oculomotor apraxia). Small clusters of enlarged blood vessels called db key
telangiectases, which occur in the eyes and on the surface of the skin, are also SNOMED CT 68504005
characteristic of this condition.
html:p Affected individuals tend to have high amounts of a protein called
alpha-fetoprotein (AFP) in their blood. The level of this protein is normally
increased in the bloodstream of pregnant women, but it is unknown why
individuals with ataxia-telangiectasia have elevated AFP or what effects it has
in these individuals.
html:p People with ataxia-telangiectasia often have a weakened immune system, and many
develop chronic lung infections. They also have an increased risk of developing
cancer, particularly cancer of blood-forming cells (leukemia) and cancer of
immune system cells (lymphoma). Affected individuals are very sensitive to the
effects of radiation exposure, including medical x-rays. The life expectancy of
people with ataxia-telangiectasia varies greatly, but affected individuals
typically live into early adulthood.
129 Ataxia with oculomotor apraxia https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia Ataxia with oculomotor apraxia is a rare condition. Type 1 is a common form html code memo related-gene gene-symbol ghr-page adult onset ataxia with oculomotor apraxia db key 2015-04 2017-12-29
of ataxia in Portugal and Japan. Type 2 is estimated to occur in 1 in 900,000 html:p Ataxia with oculomotor apraxia is a condition characterized by progressive ar autosomal recessive APTX https://ghr.nlm.nih.gov/gene/APTX EAOH GTR C1853761
individuals worldwide. problems with movement. The hallmark of this condition is difficulty related-gene gene-symbol ghr-page early-onset ataxia with ocular motor apraxia and hypoalbuminemia db key
coordinating movements (ataxia), which is often the first symptom. Most affected PIK3R5 https://ghr.nlm.nih.gov/gene/PIK3R5 SCAN2 GTR C1859598
people also have oculomotor apraxia, which makes it difficult to move their related-gene gene-symbol ghr-page SCAR1 db key
eyes side-to-side. People with oculomotor apraxia have to turn their head to see PNKP https://ghr.nlm.nih.gov/gene/PNKP spinocerebellar ataxia with axonal neuropathy type 2 GTR C3554690
things in their side (peripheral) vision. related-gene gene-symbol ghr-page spinocerebellar ataxia, recessive, non-Friedreich type 1 db key
html:p There are multiple types of ataxia with oculomotor apraxia. The types are very SETX https://ghr.nlm.nih.gov/gene/SETX GTR C4225397
similar but are caused by mutations in different genes. The two most common db key
Type 1 types (types 1 and 2) share features, in addition to ataxia and oculomotor GeneReviews aoa
apraxia, that include involuntary jerking movements (chorea), muscle twitches db key
(myoclonus), and disturbances in nerve function (neuropathy). In type 1, ataxia GeneReviews aoa2
Type 2 beings around age 4; in type 2, ataxia begins around age 15. Chorea and db key
myoclonus tend to disappear gradually in type 1; these movement problems persist MeSH D002524
throughout life in type 2. Individuals with type 1 often develop wasting db key
(atrophy) in their hands and feet, which further impairs movement. Nearly all OMIM 208920
individuals with ataxia with oculomotor apraxia develop neuropathy, which leads db key
to absent reflexes and weakness. Neuropathy causes many individuals with this OMIM 606002
condition to require wheelchair assistance, typically 10 to 15 years after the db key
start of movement problems. Intelligence is usually not affected by this OMIM 615217
condition, but some people have intellectual disability. db key
html:p People with ataxia with oculomotor apraxia type 1 tend to have decreased amounts OMIM 616267
of a protein called albumin, which transports molecules in the blood. This db key
decrease in albumin likely causes an increase in the amount of cholesterol Orphanet 1168
circulating in the bloodstream. Increased cholesterol levels may raise a db key
person's risk of developing heart disease. People with ataxia with oculomotor Orphanet 64753
apraxia type 2 have increased blood cholesterol, but they have normal albumin db key
levels. Individuals with type 2 tend to have high amounts of a protein called SNOMED CT 715366004
alpha-fetoprotein (AFP) in their blood. (An increase in the level of this
protein is normally seen in the bloodstream of pregnant women.) Affected
individuals may also have high amounts of a protein called creatine
phosphokinase (CPK) in their blood. This protein is found mainly in muscle
tissue. The effect of abnormally high levels of AFP or CPK in people with ataxia
with oculomotor apraxia type 2 is unknown.
130 Ataxia with vitamin E deficiency https://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency Ataxia with vitamin E deficiency is a rare condition; however, its html code memo related-gene gene-symbol ghr-page ataxia with isolated vitamin E deficiency db key 2015-12 2017-12-29
prevalence is unknown. html:p Ataxia with vitamin E deficiency is a disorder that impairs the body's ability ar autosomal recessive TTPA https://ghr.nlm.nih.gov/gene/TTPA AVED GTR C1848533
to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which familial isolated vitamin E deficiency db key
means that it protects cells in the body from the damaging effects of unstable FIVE GeneReviews aved
molecules called free radicals. A shortage (deficiency) of vitamin E can lead to Friedreich ataxia phenotype with selective vitamin E deficiency db key
neurological problems, such as difficulty coordinating movements (ataxia) and Friedreich-like ataxia MeSH D014811
speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a db key
loss of sensation in the extremities (peripheral neuropathy). Some people with OMIM 277460
this condition have developed an eye disorder called retinitis pigmentosa that db key
causes vision loss. Most people who have ataxia with vitamin E deficiency start SNOMED CT 702442008
to experience problems with movement between the ages of 5 and 15 years. The
movement problems tend to worsen with age.
131 Atelosteogenesis type 1 https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-1 Atelosteogenesis type 1 is a rare disorder; its exact prevalence is html code memo related-gene gene-symbol ghr-page AOI db key 2011-09 2017-12-29
畸型發育不良1xing unknown. Only a few dozen affected individuals have been identified. html:p Atelosteogenesis type 1 is a disorder that affects the development of bones ad autosomal dominant FLNB https://ghr.nlm.nih.gov/gene/FLNB atelosteogenesis type I GTR C0265283
throughout the body. Affected individuals are born with inward- and giant cell chondrodysplasia db key
upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. spondylohumerofemoral hypoplasia GeneReviews flnb-dis
Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some db key
cases absent. As a result of the limb bone abnormalities, individuals with this MeSH D010009
condition have very short arms and legs. Characteristic facial features include db key
a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a OMIM 108720
grooved tip, and a very small lower jaw and chin (micrognathia). Affected db key
individuals may also have an opening in the roof of the mouth (a cleft palate). Orphanet 1190
Males with this condition can have undescended testes. db key
html:p Individuals with atelosteogenesis type 1 typically have an underdeveloped rib SNOMED CT 43814000
cage that affects the development and functioning of the lungs. As a result,
affected individuals are usually stillborn or die shortly after birth from
respiratory failure.
132 Atelosteogenesis type 2 https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-2 Atelosteogenesis type 2 is an extremely rare genetic disorder; its html code memo related-gene gene-symbol ghr-page AO2 db key 2008-02 2017-12-29
incidence is unknown. html:p Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. ar autosomal recessive SLC26A2 https://ghr.nlm.nih.gov/gene/SLC26A2 Atelosteogenesis de la Chapelle type GTR C1850554
Infants born with this condition have very short arms and legs, a narrow chest, atelosteogenesis, type 2 db key
and a prominent, rounded abdomen. This disorder is also characterized by an De la Chapelle dysplasia GeneReviews ao2
opening in the roof of the mouth (a cleft palate), distinctive facial features, McAlister dysplasia db key
an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs Neonatal osseous dysplasia 1 MeSH D010009
(hitchhiker thumbs). db key
html:p The signs and symptoms of atelosteogenesis type 2 are similar to those of OMIM 256050
another skeletal disorder called diastrophic dysplasia; however, db key
atelosteogenesis type 2 is typically more severe. As a result of serious health Orphanet 56304
problems, infants with this disorder are usually stillborn or die soon after db key
birth from respiratory failure. Some infants, however, have lived for a short SNOMED CT 254055004
time with intensive medical support.
133 Atelosteogenesis type 3 https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-3 Atelosteogenesis type 3 is a rare disorder; its exact prevalence is html code memo related-gene gene-symbol ghr-page AOIII db key 2011-09 2017-12-29
unknown. About two dozen affected individuals have been identified. html:p Atelosteogenesis type 3 is a disorder that affects the development of bones ad autosomal dominant FLNB https://ghr.nlm.nih.gov/gene/FLNB atelosteogenesis type III GTR C3668942
throughout the body. Affected individuals are born with inward- and db key
upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. GeneReviews flnb-dis
Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some db key
cases absent. As a result of the limb bone abnormalities, individuals with this MeSH D010009
condition have very short arms and legs. Their hands and feet are wide, with db key
broad fingers and toes that may be permanently bent (camptodactyly) or fused OMIM 108721
together (syndactyly). Characteristic facial features include a broad forehead, db key
wide-set eyes (hypertelorism), and an underdeveloped nose. About half of Orphanet 56305
affected individuals have an opening in the roof of the mouth (a cleft palate.) db key
html:p Individuals with atelosteogenesis type 3 typically have an underdeveloped rib SNOMED CT 43814000
cage that affects the development and functioning of the lungs. As a result,
affected individuals are usually stillborn or die shortly after birth from
respiratory failure. Some affected individuals survive longer, usually with
intensive medical support. They typically experience further respiratory
problems as a result of weakness of the airways that can lead to partial
closing, short pauses in breathing (apnea), or frequent infections. People with
atelosteogenesis type 3 who survive past the newborn period may have learning
disabilities and delayed language skills, which are probably caused by low
levels of oxygen in the brain due to respiratory problems. As a result of their
orthopedic abnormalities, they also have delayed development of motor skills
such as standing and walking.
134 Atopic dermatitis https://ghr.nlm.nih.gov/condition/atopic-dermatitis Atopic dermatitis is a common disorder that affects 10 to 20 percent of html code memo related-gene gene-symbol ghr-page atopic eczema db key 2017-10 2017-12-29
異位性皮膚炎 children and 5 to 10 percent of adults. html:p Atopic dermatitis (also known as atopic eczema) is a disorder characterized by ad autosomal dominant CARD11 https://ghr.nlm.nih.gov/gene/CARD11 GTR C0011615
過敏性皮膚炎或過敏性濕疹 inflammation of the skin (dermatitis). The condition usually begins in early related-gene gene-symbol ghr-page db key
infancy, and it often disappears before adolescence. However, in some affected FLG https://ghr.nlm.nih.gov/gene/FLG GTR C1853965
individuals the condition continues into adulthood; in others, it does not begin db key
until adulthood. Hallmarks of atopic dermatitis include dry, itchy skin and red GTR CN417134
rashes that come and go. The rashes can occur on any part of the body, although db key
the pattern tends to be different at different ages. In affected infants, the ICD-10-CM L20.9
rashes commonly occur on the face, scalp, hands, and feet. In children, the db key
rashes are usually found in the bend of the elbows and knees and on the front of ICD-10-CM L20.82
the neck. In adolescents and adults, the rashes typically occur on the wrists, db key
ankles, and eyelids in addition to the bend of the elbows and knees. Scratching ICD-10-CM L20.83
the itchy skin can lead to oozing and crusting of the rashes and thickening and db key
hardening (lichenification) of the skin. The itchiness can be so severe as to ICD-10-CM L20.84
disturb sleep and impair a person's quality of life. db key
html:p The word "atopic" indicates an association with allergies. While atopic ICD-10-CM L20.89
dermatitis is not always due to an allergic reaction, it is commonly associated db key
with other allergic disorders: up to 60 percent of people with atopic dermatitis MeSH D003876
develop asthma or hay fever (allergic rhinitis) later in life, and up to 30 db key
percent have food allergies. Atopic dermatitis is often the beginning of a OMIM 603165
series of allergic disorders, referred to as the "atopic march." Development of db key
these disorders typically follows a pattern, beginning with atopic dermatitis, OMIM 605803
followed by food allergies, then hay fever, and finally asthma. However, not all db key
individuals with atopic dermatitis will progress through the atopic march, and OMIM 617638
not all individuals with one allergic disease will develop others. db key
html:p Individuals with atopic dermatitis have an increased risk of developing other SNOMED CT 24079001
conditions related to inflammation, such as inflammatory bowel disease, db key
rheumatoid arthritis, and hair loss caused by a malfunctioning immune reaction SNOMED CT 402189008
(alopecia areata). They also have an increased risk of having a behavioral or db key
psychiatric disorder, such as attention deficit hyperactivity disorder (ADHD) or SNOMED CT 402194008
depression.
html:p In a particular subset of individuals with atopic dermatitis, the immune system
is unable to protect the body from foreign invaders such as bacteria and fungi
(which is known as immunodeficiency). These individuals are prone to recurrent
infections. Most also have other allergic disorders, such as asthma, hay fever,
and food allergies.
html:p Atopic dermatitis can also be a feature of separate disorders that have a number
of signs and symptoms, which can include skin abnormalities and
immunodeficiency. Some such disorders are Netherton syndrome; immune
dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome; and
severe dermatitis, multiple allergies, metabolic wasting (SAM) syndrome.
135 Atypical hemolytic-uremic syndrome https://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome The incidence of atypical hemolytic-uremic syndrome is estimated to be 1 in html code memo related-gene gene-symbol ghr-page aHUS db key 2010-06 2017-12-29
500,000 people per year in the United States. The atypical form is probably html:p Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney ad autosomal dominant C3 https://ghr.nlm.nih.gov/gene/C3 non-Shiga-like toxin-associated HUS GTR C2749604
about 10 times less common than the typical form. function. This condition, which can occur at any age, causes abnormal blood code memo related-gene gene-symbol ghr-page non-Stx-HUS db key
clots (thrombi) to form in small blood vessels in the kidneys. These clots can ar autosomal recessive CD46 https://ghr.nlm.nih.gov/gene/CD46 nonenteropathic HUS GTR C2752036
cause serious medical problems if they restrict or block blood flow. Atypical related-gene gene-symbol ghr-page db key
hemolytic-uremic syndrome is characterized by three major features related to CFB https://ghr.nlm.nih.gov/gene/CFB GTR C2752037
abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure. related-gene gene-symbol ghr-page db key
html:p Hemolytic anemia occurs when red blood cells break down (undergo hemolysis) CFH https://ghr.nlm.nih.gov/gene/CFH GTR C2752038
prematurely. In atypical hemolytic-uremic syndrome, red blood cells can break related-gene gene-symbol ghr-page db key
apart as they squeeze past clots within small blood vessels. Anemia results if CFHR5 https://ghr.nlm.nih.gov/gene/CFHR5 GTR C2752039
these cells are destroyed faster than the body can replace them. This condition related-gene gene-symbol ghr-page db key
can lead to unusually pale skin (pallor), yellowing of the eyes and skin CFI https://ghr.nlm.nih.gov/gene/CFI GTR C2752040
(jaundice), fatigue, shortness of breath, and a rapid heart rate. related-gene gene-symbol ghr-page db key
html:p Thrombocytopenia is a reduced level of circulating platelets, which are cell THBD https://ghr.nlm.nih.gov/gene/THBD GTR C2931788
fragments that normally assist with blood clotting. In people with atypical db key
hemolytic-uremic syndrome, fewer platelets are available in the bloodstream GeneReviews husa
because a large number of platelets are used to make abnormal clots. db key
Thrombocytopenia can cause easy bruising and abnormal bleeding. ICD-10-CM D59.3
html:p As a result of clot formation in small blood vessels, people with atypical db key
hemolytic-uremic syndrome experience kidney damage and acute kidney failure that MeSH D006463
lead to end-stage renal disease (ESRD) in about half of all cases. These db key
life-threatening complications prevent the kidneys from filtering fluids and OMIM 235400
waste products from the body effectively. db key
html:p Atypical hemolytic-uremic syndrome should be distinguished from a more common OMIM 612922
condition called typical hemolytic-uremic syndrome. The two disorders have db key
different causes and different signs and symptoms. Unlike the atypical form, the OMIM 612923
Typical hemolytic-uremic syndrome typical form is caused by infection with certain strains of Escherichia coli db key
bacteria that produce toxic substances called Shiga-like toxins. The typical OMIM 612924
form is characterized by severe diarrhea and most often affects children younger db key
than 10. The typical form is less likely than the atypical form to involve OMIM 612925
recurrent attacks of kidney damage that lead to ESRD. db key
OMIM 612926
db key
Orphanet 2134
db key
SNOMED CT 373422007
136 Auriculo-condylar syndrome https://ghr.nlm.nih.gov/condition/auriculo-condylar-syndrome Auriculo-condylar syndrome appears to be a rare disorder. More than two html code memo related-gene gene-symbol ghr-page auriculocondylar syndrome db key 2013-01 2017-12-29
dozen affected individuals have been described in the medical literature. html:p Auriculo-condylar syndrome is a condition that affects facial development, ad autosomal dominant GNAI3 https://ghr.nlm.nih.gov/gene/GNAI3 dysgnathia complex GTR C1865295
particularly development of the ears and lower jaw (mandible). related-gene gene-symbol ghr-page question-mark ear syndrome db key
html:p Most people with auriculo-condylar syndrome have malformed outer ears PLCB4 https://ghr.nlm.nih.gov/gene/PLCB4 GTR C3553404
("auriculo-" refers to the ears). A hallmark of this condition is an ear db key
abnormality called a "question-mark ear" in which the ears have a distinctive MeSH D004427
question-mark shape caused by a split that separates the upper part of the ear db key
from the earlobe. Other ear abnormalities that can occur in auriculo-condylar OMIM 602483
syndrome include cupped ears, ears with fewer folds and grooves than usual db key
(described as "simple"), narrow ear canals, small skin tags in front of or OMIM 614669
behind the ears, and ears that are rotated backward. Some affected individuals db key
also have hearing loss. Orphanet 137888
html:p Abnormalities of the mandible are another characteristic feature of db key
auriculo-condylar syndrome. These abnormalities often include an unusually small SNOMED CT 702443003
chin (micrognathia) and malfunction of the temporomandibular joint (TMJ), which
connects the lower jaw to the skull. Problems with the TMJ affect how the upper
and lower jaws fit together and can make it difficult to open and close the
mouth. The term "condylar" in the name of the condition refers to the mandibular
condyle, which is the upper portion of the mandible that forms part of the TMJ.
html:p Other features of auriculo-condylar syndrome can include prominent cheeks, an
unusually small mouth (microstomia), differences in the size and shape of facial
structures between the right and left sides of the face (facial asymmetry), and
an opening in the roof of the mouth (cleft palate). These features vary, even
among affected members of the same family.
137 Autism spectrum disorder https://ghr.nlm.nih.gov/condition/autism-spectrum-disorder ASD is a common condition, and affects almost five times as many males as html code memo related-gene gene-symbol ghr-page ASD db key 2017-06 2017-12-29
自閉症譜系 females.The number of children diagnosed with ASD has been increasing rapidly in html:p Autism spectrum disorder (ASD) is a condition that appears very early in u pattern unknown ADNP https://ghr.nlm.nih.gov/gene/ADNP autistic continuum GTR C1510586
the past few decades. The prevalence of the disorder in the United States was childhood development, varies in severity, and is characterized by impaired related-gene gene-symbol ghr-page pervasive developmental disorder db key
estimated as 1 in 68 children in 2014, up from 1 in 88 only two years earlier. social skills, communication problems, and repetitive behaviors. These ANK2 https://ghr.nlm.nih.gov/gene/ANK2 ICD-10-CM F84.0
In the 1980s, before the term ASD was used, the prevalence of autism was difficulties can interfere with affected individuals' ability to function in related-gene gene-symbol ghr-page db key
reported to be about 1 in 2,000. However, it is unclear whether this represents social, academic, and employment settings. People with ASD also have an ARID1B https://ghr.nlm.nih.gov/gene/ARID1B MeSH D000067877
a true increase in the prevalence of ASD or reflects changes in the way increased risk of psychiatric problems such as anxiety, depression, related-gene gene-symbol ghr-page db key
behaviors characteristic of the disorder have been diagnosed and categorized. obsessive-compulsive disorder, and eating disorders. ASH1L https://ghr.nlm.nih.gov/gene/ASH1L OMIM 209850
html:p From as early as 1 to 2 years of age, people with ASD have an impaired ability related-gene gene-symbol ghr-page db key
to interact with other people; they are often more comfortable dealing with ASXL3 https://ghr.nlm.nih.gov/gene/ASXL3 SNOMED CT 408856003
objects. Affected individuals have difficulty understanding and using non-verbal related-gene gene-symbol ghr-page
social cues such as eye contact, facial expressions, gestures, and body CACNA1H https://ghr.nlm.nih.gov/gene/CACNA1H
language. Inability to recognize and use these cues makes it hard for affected related-gene gene-symbol ghr-page
individuals to understand the feelings of others or communicate their own CHD2 https://ghr.nlm.nih.gov/gene/CHD2
feelings appropriately. Behavioral signs of ASD, such as reduced eye contact and related-gene gene-symbol ghr-page
social interaction, can sometimes be detected before age 2. However, the CHD8 https://ghr.nlm.nih.gov/gene/CHD8
condition is usually diagnosed between ages 2 and 4, when more advanced related-gene gene-symbol ghr-page
communication and social skills, such as learning to play with others, typically CNTN4 https://ghr.nlm.nih.gov/gene/CNTN4
begin to develop. related-gene gene-symbol ghr-page
html:p Repetitive behaviors in ASD can include simple actions such as rocking, CNTNAP2 https://ghr.nlm.nih.gov/gene/CNTNAP2
hand-flapping, or repetition of words or noises (echolalia). Affected related-gene gene-symbol ghr-page
individuals often dwell on or repeatedly express particular thoughts; this CTNND2 https://ghr.nlm.nih.gov/gene/CTNND2
behavior is called perseveration. People with ASD tend to be rigid about their related-gene gene-symbol ghr-page
established routines and may strongly resist disruptions such as changes in DSCAM https://ghr.nlm.nih.gov/gene/DSCAM
schedule. They may also have difficulty tolerating sensory stimuli such as loud related-gene gene-symbol ghr-page
noises or bright lights. DYRK1A https://ghr.nlm.nih.gov/gene/DYRK1A
html:p While social and communication difficulties and unusual behaviors define ASD, related-gene gene-symbol ghr-page
affected individuals can have a wide range of intellectual abilities and GABRB3 https://ghr.nlm.nih.gov/gene/GABRB3
language skills. A majority of people with ASD have mild to moderate related-gene gene-symbol ghr-page
intellectual disability, while others have average to above-average GRIN2B https://ghr.nlm.nih.gov/gene/GRIN2B
intelligence. Some have particular cognitive abilities that greatly surpass related-gene gene-symbol ghr-page
their overall level of functioning, often in areas such as music, mathematics, KATNAL2 https://ghr.nlm.nih.gov/gene/KATNAL2
or memory. related-gene gene-symbol ghr-page
html:p Some people with ASD do not speak at all, while others use language fluently. KDM5B https://ghr.nlm.nih.gov/gene/KDM5B
However, fluent speakers with ASD often have problems associated with verbal related-gene gene-symbol ghr-page
communication. They might speak in a monotone voice, have unusual vocal MECP2 https://ghr.nlm.nih.gov/gene/MECP2
mannerisms, or choose unusual topics of conversation. related-gene gene-symbol ghr-page
html:p Several diagnoses that used to be classified as separate conditions are now MYT1L https://ghr.nlm.nih.gov/gene/MYT1L
grouped together under the diagnosis of ASD. For example, autistic disorder was related-gene gene-symbol ghr-page
a term that was used when affected individuals had limited or absent verbal NLGN3 https://ghr.nlm.nih.gov/gene/NLGN3
communication, often in combination with intellectual disability. By contrast, related-gene gene-symbol ghr-page
Asperger syndrome was a diagnosis formerly applied to affected individuals of NRXN1 https://ghr.nlm.nih.gov/gene/NRXN1
average or above-average intelligence who were not delayed in their language related-gene gene-symbol ghr-page
development. The broader diagnosis of ASD was established because many affected POGZ https://ghr.nlm.nih.gov/gene/POGZ
individuals fall outside of the strict definitions of the narrower diagnoses, related-gene gene-symbol ghr-page
and their intellectual and communication abilities may change over time. PTCHD1 https://ghr.nlm.nih.gov/gene/PTCHD1
However, some individuals who were previously diagnosed with one of the subtypes related-gene gene-symbol ghr-page
now do not meet all the criteria of the new umbrella diagnosis. PTEN https://ghr.nlm.nih.gov/gene/PTEN
related-gene gene-symbol ghr-page
RELN https://ghr.nlm.nih.gov/gene/RELN
related-gene gene-symbol ghr-page
SCN2A https://ghr.nlm.nih.gov/gene/SCN2A
related-gene gene-symbol ghr-page
SHANK2 https://ghr.nlm.nih.gov/gene/SHANK2
related-gene gene-symbol ghr-page
SHANK3 https://ghr.nlm.nih.gov/gene/SHANK3
related-gene gene-symbol ghr-page
SYNGAP1 https://ghr.nlm.nih.gov/gene/SYNGAP1
related-gene gene-symbol ghr-page
TBR1 https://ghr.nlm.nih.gov/gene/TBR1
138 Autoimmune Addison disease https://ghr.nlm.nih.gov/condition/autoimmune-addison-disease Addison disease affects approximately 11 to 14 in 100,000 people of html code memo related-gene gene-symbol ghr-page autoimmune Addison's disease db key 2017-01 2017-12-29
European descent. The autoimmune form of the disorder is the most common form in html:p Autoimmune Addison disease affects the function of the adrenal glands, which are u pattern unknown CIITA https://ghr.nlm.nih.gov/gene/CIITA autoimmune adrenalitis GTR C1868690
developed countries, accounting for up to 90 percent of cases. small hormone-producing glands located on top of each kidney. It is classified related-gene gene-symbol ghr-page classic Addison disease db key
as an autoimmune disorder because it results from a malfunctioning immune system CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 primary Addison disease ICD-10-CM E27.1
that attacks the adrenal glands. As a result, the production of several related-gene gene-symbol ghr-page db key
hormones is disrupted, which affects many body systems. CYP27B1 https://ghr.nlm.nih.gov/gene/CYP27B1 ICD-10-CM E27.2
html:p The signs and symptoms of autoimmune Addison disease can begin at any time, related-gene gene-symbol ghr-page db key
although they most commonly begin between ages 30 and 50. Common features of HLA-DQA1 https://ghr.nlm.nih.gov/gene/HLA-DQA1 MeSH D000224
this condition include extreme tiredness (fatigue), nausea, decreased appetite, related-gene gene-symbol ghr-page db key
and weight loss. In addition, many affected individuals have low blood pressure HLA-DQB1 https://ghr.nlm.nih.gov/gene/HLA-DQB1 Orphanet 85138
(hypotension), which can lead to dizziness when standing up quickly; muscle related-gene gene-symbol ghr-page db key
cramps; and a craving for salty foods. A characteristic feature of autoimmune HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 SNOMED CT 363732003
Addison disease is abnormally dark areas of skin (hyperpigmentation), especially related-gene gene-symbol ghr-page
in regions that experience a lot of friction, such as the armpits, elbows, MICA https://ghr.nlm.nih.gov/gene/MICA
knuckles, and palm creases. The lips and the inside lining of the mouth can also related-gene gene-symbol ghr-page
be unusually dark. Because of an imbalance of hormones involved in development NLRP1 https://ghr.nlm.nih.gov/gene/NLRP1
of sexual characteristics, women with this condition may lose underarm and related-gene gene-symbol ghr-page
pubic hair. PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22
html:p Other signs and symptoms of autoimmune Addison disease include low levels of
sugar (hypoglycemia) and sodium (hyponatremia) and high levels of potassium
(hyperkalemia) in the blood. Affected individuals may also have a shortage of
red blood cells (anemia) and an increase in the number of white blood cells
(lymphocytosis), particularly those known as eosinophils (eosinophilia).
html:p Autoimmune Addison disease can lead to a life-threatening adrenal crisis,
characterized by vomiting, abdominal pain, back or leg cramps, and severe
hypotension leading to shock. The adrenal crisis is often triggered by a
stressor, such as surgery, trauma, or infection.
html:p Individuals with autoimmune Addison disease or their family members can have
another autoimmune disorder, most commonly autoimmune thyroid disease or type 1
diabetes.
139 Autoimmune lymphoproliferative syndrome https://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome ALPS is a rare disorder; its prevalence is unknown. More than 200 affected html code memo related-gene gene-symbol ghr-page ALPS db key 2014-07 2017-12-29
individuals have been identified worldwide. html:p Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which ad autosomal dominant CASP8 https://ghr.nlm.nih.gov/gene/CASP8 Canale-Smith syndrome GTR C1328840
the body cannot properly regulate the number of immune system cells code memo related-gene gene-symbol ghr-page db key
(lymphocytes). ALPS is characterized by the production of an abnormally large ar autosomal recessive CASP10 https://ghr.nlm.nih.gov/gene/CASP10 GTR C1858968
number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes related-gene gene-symbol ghr-page db key
results in enlargement of the lymph nodes (lymphadenopathy), the liver FAS https://ghr.nlm.nih.gov/gene/FAS GTR C1866119
(hepatomegaly), and the spleen (splenomegaly). related-gene gene-symbol ghr-page db key
html:p People with ALPS have an increased risk of developing cancer of the immune FASLG https://ghr.nlm.nih.gov/gene/FASLG GTR C1866120
system cells (lymphoma) and may also be at increased risk of developing other related-gene gene-symbol ghr-page db key
cancers. KRAS https://ghr.nlm.nih.gov/gene/KRAS GTR C1866121
html:p Autoimmune disorders are also common in ALPS. Autoimmune disorders occur when related-gene gene-symbol ghr-page db key
the immune system malfunctions and attacks the body's own tissues and organs. NRAS https://ghr.nlm.nih.gov/gene/NRAS GTR C2674723
Most of the autoimmune disorders associated with ALPS target and damage blood db key
cells. For example, the immune system may attack red blood cells (autoimmune GeneReviews alps
hemolytic anemia), white blood cells (autoimmune neutropenia), or platelets db key
(autoimmune thrombocytopenia). Less commonly, autoimmune disorders that affect ICD-10-CM D89.82
other organs and tissues occur in people with ALPS. These disorders can damage db key
the kidneys (glomerulonephritis), liver (autoimmune hepatitis), eyes (uveitis), MeSH D056735
nerves (Guillain-Barre syndrome), or the connective tissues (systemic lupus db key
erythematosus) that provide strength and flexibility to structures throughout OMIM 601859
the body. db key
html:p Skin problems, usually rashes or hives (urticaria), can occur in ALPS. OMIM 603909
Occasionally, affected individuals develop hardened skin with painful lumps or db key
patches (panniculitis). Other rare signs and symptoms of ALPS include joint OMIM 607271
inflammation (arthritis), inflammation of blood vessels (vasculitis), mouth db key
sores (oral ulcers), or an early loss of ovarian function (premature ovarian OMIM 614470
failure) may also occur in this disorder. Affected individuals can also develop db key
neurological damage (organic brain syndrome) with symptoms that may include SNOMED CT 702444009
headaches, seizures, or a decline in intellectual functions (dementia).
html:p ALPS can have different patterns of signs and symptoms, which are sometimes
considered separate forms of the disorder. In the most common form,
lymphoproliferation generally becomes apparent during childhood. Enlargement of
the lymph nodes and spleen frequently occur in affected individuals. Autoimmune
disorders typically develop several years later, most frequently as a
combination of hemolytic anemia and thrombocytopenia, also called Evans
syndrome. People with this classic form of ALPS have a greatly increased risk of
developing lymphoma compared with the general population.
html:p Other types of ALPS are very rare. In some affected individuals, severe
lymphoproliferation begins around the time of birth, and autoimmune disorders
and lymphoma develop at an early age. People with this pattern of signs and
symptoms generally do not live beyond childhood. Another form of ALPS involves
lymphoproliferation and the tendency to develop systemic lupus erythematosus.
Individuals with this form of the disorder do not have an enlarged spleen.
html:p Some people have signs and symptoms that resemble those of ALPS, but the
specific pattern of these signs and symptoms or the genetic cause may be
different than in other forms. Researchers disagree whether individuals with
these non-classic forms should be considered to have ALPS or a separate
condition.
140 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy https://ghr.nlm.nih.gov/condition/autoimmune-polyendocrinopathy-candidiasis-ecto APECED occurs in about 1 in 90,000 to 200,000 people in most populations html inheritance-pattern code memo related-gene gene-symbol synonym db-key db key 2016-10 2017-12-29
dermal-dystrophy studied, which have been mainly in Europe. This condition occurs more frequently html:p Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an ar autosomal recessive AIRE synonym GTR C0085859
in certain populations, affecting about 1 in 9,000 to 25,000 people among inherited condition that affects many of the body's organs. It is one of many synonym db-key db key
Iranian Jews, Sardinians, and Finns. autoimmune diseases, which are disorders that occur when the immune system synonym GTR C1855869
These features occur more malfunctions and attacks the body's own tissues and organs by mistake. synonym db-key db key
often in North American populations than in European populations. Rashes that html:p In most cases, the signs and symptoms of APECED begin in childhood or synonym GTR C2749602
adolescence. This condition commonly involves three characteristic features: synonym db-key db key
chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal gland synonym ICD-10-CM E31.0
insufficiency. Affected individuals typically have at least two of these synonym db-key db key
features, and many have all three. synonym MeSH D016884
html:p CMC is a tendency to develop infections of the skin, the nails, and the db-key db key
moist lining of body cavities (mucous membranes) caused by a type of fungus called OMIM 240300
Candida. These infections, which are commonly known as yeast infections, db-key db key
are chronic, which means they recur and can last a long time. CMC is Orphanet 3453
usually the first of the three characteristic features of APECED to become db-key db key
apparent in people with this disorder. Almost all affected individuals develop SNOMED CT 11244009
infections of the oral cavity (known as thrush). Infections of the tube that carries
food from the mouth to the stomach (the esophagus) are also common, while the skin and nails are affected less often. In women, vaginal infections frequently occur.
html:p Other features of APECED result from the body's immune system attacking the
network of hormone-producing glands (the endocrine system). The second
characteristic feature of the disorder is hypoparathyroidism, which is a
malfunction of the parathyroid glands. These glands secrete a hormone that
regulates the body's use of calcium and phosphorus. Damage to the parathyroid
glands leads to reduced parathyroid hormone production (hypoparathyroidism).
Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and
toes; muscle pain and cramping; weakness; and fatigue.
html:p Damage to the small hormone-producing glands on top of each kidney (adrenal
glands) results in a third major feature of APECED, adrenal gland insufficiency
(Addison disease). Reduced hormone production by the adrenal glands leads to
signs and symptoms that can include fatigue, muscle weakness, loss of appetite,
weight loss, low blood pressure, and changes in skin coloring. Other endocrine
problems that can occur in APECED include type 1 diabetes resulting from
impaired production of the hormone insulin; a shortage of growth hormone leading
to short stature; problems affecting the internal reproductive organs (ovaries
or testes) that can cause inability to conceive children (infertility); and
dysfunction of the thyroid gland (a butterfly-shaped tissue in the lower neck),
which can result in many symptoms including weight gain and fatigue.
html:p Autoimmune problems affecting non-endocrine tissues can lead to a variety of
additional signs and symptoms in people with APECED. These features occur more
often in North American populations than in European populations. Rashes that
resemble hives (urticarial eruptions) are common and often occur in infancy and
early childhood. Other early signs and symptoms may include thin enamel on the
teeth (enamel hypoplasia) and chronic diarrhea or constipation associated with
difficulty in absorbing nutrients from food. Additional features that occur in
people with APECED, many of which can lead to permanent organ and tissue damage
if left untreated, include stomach irritation (gastritis), liver inflammation
(hepatitis), lung irritation (pneumonitis), dry mouth and dry eyes (Sjogren-like
syndrome), inflammation of the eyes (keratitis), kidney problems (nephritis),
vitamin B12 deficiency, hair loss (alopecia), loss of skin color in blotches
(vitiligo), high blood pressure (hypertension), or a small (atrophic) or absent
Of spleen (asplenia).
141 Autosomal dominant cerebellar ataxia, deafness, and narcolepsy https://ghr.nlm.nih.gov/condition/autosomal-dominant-cerebellar-ataxia-deafness- The prevalence of ADCADN is unknown. At least 24 affected individuals have html code memo related-gene gene-symbol ghr-page ADCA-DN syndrome db key 2017-07 2017-12-29
and-narcolepsy been described in the medical literature. html:p Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a ad autosomal dominant DNMT1 https://ghr.nlm.nih.gov/gene/DNMT1 ADCADN GTR C1858804
nervous system disorder with signs and symptoms that usually begin in autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome db key
mid-adulthood and gradually get worse. cerebellar ataxia, deafness, and narcolepsy, autosomal dominant GeneReviews ataxias
html:p People with ADCADN have difficulty coordinating movements (ataxia) and mild to db key
moderate hearing loss caused by abnormalities of the inner ear (sensorineural MeSH D002524
deafness). Most have excessive daytime sleepiness (narcolepsy). Narcolepsy is db key
typically accompanied by cataplexy, which is a sudden brief loss of muscle tone OMIM 604121
in response to strong emotion (such as excitement, surprise, or anger). These db key
episodes of muscle weakness can cause an affected person to slump over or fall, Orphanet 314404
which occasionally leads to injury. These characteristic signs and symptoms of db key
ADCADN typically begin in a person's thirties. SNOMED CT 722293005
html:p Eventually, people with ADCADN also experience a decline of intellectual
function (dementia). The cognitive problems often begin with impairment of
executive function, which is the ability to plan and implement actions and
develop problem-solving strategies. Other features that can occur as the
condition worsens include degeneration of the nerves that carry information from
the eyes to the brain (optic atrophy); clouding of the lenses of the eyes
(cataracts); numbness, tingling, or pain in the arms and legs (sensory
neuropathy); puffiness or swelling (lymphedema) of the limbs; an inability to
control the bowels or the flow of urine (incontinence); depression;
uncontrollable crying or laughing (pseudobulbar signs); or a distorted view of
reality (psychosis). Affected individuals usually survive into their forties or
fifties.
142 Autosomal dominant congenital stationary night blindness https://ghr.nlm.nih.gov/condition/autosomal-dominant-congenital-stationary-night-blindness Autosomal dominant congenital stationary night blindness is likely a rare html code memo related-gene gene-symbol ghr-page adCSNB db key 2013-11 2017-12-29
-blindness disease; however, its prevalence is unknown. html:p Autosomal dominant congenital stationary night blindness is a disorder of the ad autosomal dominant GNAT1 https://ghr.nlm.nih.gov/gene/GNAT1 CSNBAD GTR C0339535
retina, which is the specialized tissue at the back of the eye that detects related-gene gene-symbol ghr-page night blindness, congenital stationary, autosomal dominant db key
light and color. People with this condition typically have difficulty seeing and PDE6B https://ghr.nlm.nih.gov/gene/PDE6B ICD-10-CM H53.63
distinguishing objects in low light (night blindness). For example, they are related-gene gene-symbol ghr-page db key
not able to identify road signs at night and some people cannot see stars in the RHO https://ghr.nlm.nih.gov/gene/RHO MeSH D009755
night sky. Affected individuals have normal daytime vision and typically do not db key
have other vision problems related to this disorder. OMIM 163500
html:p The night blindness associated with this condition is congenital, which means it db key
is present from birth. This vision impairment tends to remain stable OMIM 610444
(stationary); it does not worsen over time. db key
OMIM 610445
db key
Orphanet 215
db key
SNOMED CT 232061009
143 Autosomal dominant hyper-IgE syndrome https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome This condition is rare, affecting fewer than 1 per million people. html code memo related-gene gene-symbol ghr-page AD-HIES db key 2015-10 2017-12-29
先天性高免疫球蛋白 E综合症 html:p Autosomal dominant hyper-IgE syndrome (AD-HIES), also known as Job syndrome, is ad autosomal dominant STAT3 https://ghr.nlm.nih.gov/gene/STAT3 autosomal dominant HIES GTR C0022398
a condition that affects several body systems, particularly the immune system. autosomal dominant hyper-IgE recurrent infection syndrome db key
Recurrent infections are common in people with this condition. Affected autosomal dominant hyperimmunoglobulin E recurrent infection syndrome GeneReviews higes
individuals tend to have frequent bouts of pneumonia, which are caused by autosomal dominant Job syndrome db key
certain kinds of bacteria that infect the lungs and cause inflammation. These Buckley syndrome ICD-10-CM D82.4
infections often result in the formation of air-filled cysts (pneumatoceles) in Job-Buckley syndrome db key
the lungs. Recurrent skin infections and an inflammatory skin disorder called Job syndrome MeSH D007589
eczema are also very common in AD-HIES. These skin problems cause rashes, Job's Syndrome db key
blisters, accumulations of pus (abscesses), open sores, and scaling. STAT3 deficiency OMIM 147060
html:p AD-HIES is characterized by abnormally high levels of an immune system protein STAT3-deficient hyper IgE syndrome db key
called immunoglobulin E (IgE) in the blood. IgE normally triggers an immune Orphanet 2314
response against foreign invaders in the body, particularly parasitic worms, and db key
plays a role in allergies. It is unclear why people with AD-HIES have such high SNOMED CT 50926003
levels of IgE.
html:p AD-HIES also affects other parts of the body, including the bones and teeth.
Many people with AD-HIES have skeletal abnormalities such as an unusually large
range of joint movement (hyperextensibility), an abnormal curvature of the spine
(scoliosis), reduced bone density (osteopenia), and a tendency for bones to
fracture easily. Dental abnormalities are also common in this condition. The
primary (baby) teeth do not fall out at the usual time during childhood but are
retained as the adult teeth grow in. Other signs and symptoms of AD-HIES can
include abnormalities of the arteries that supply blood to the heart muscle
(coronary arteries), distinctive facial features, and structural abnormalities
of the brain, which do not affect a person's intelligence.
144 Autosomal dominant hypocalcemia https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia The prevalence of autosomal dominant hypocalcemia is unknown. The condition html code memo related-gene gene-symbol ghr-page ADH db key 2015-02 2017-12-29
先天性低血鈣症 is likely underdiagnosed because it often causes no signs or symptoms. html:p Autosomal dominant hypocalcemia is characterized by low levels of calcium in the ad autosomal dominant CASR https://ghr.nlm.nih.gov/gene/CASR autosomal dominant hypoparathyroidism GTR CN228164
blood (hypocalcemia). Affected individuals can have an imbalance of other related-gene gene-symbol ghr-page familial hypercalciuric hypocalcemia db key
molecules in the blood as well, including too much phosphate (hyperphosphatemia) GNA11 https://ghr.nlm.nih.gov/gene/GNA11 familial hypocalcemia MeSH D006996
or too little magnesium (hypomagnesemia). Some people with autosomal dominant db key
hypocalcemia also have low levels of a hormone called parathyroid hormone OMIM 601198
(hypoparathyroidism). This hormone is involved in the regulation of calcium db key
levels in the blood. Abnormal levels of calcium and other molecules in the body OMIM 615361
can lead to a variety of signs and symptoms, although about half of affected db key
individuals have no associated health problems. Orphanet 428
html:p The most common features of autosomal dominant hypocalcemia include muscle db key
spasms in the hands and feet (carpopedal spasms) and muscle cramping, prickling SNOMED CT 711152006
or tingling sensations (paresthesias), or twitching of the nerves and muscles
(neuromuscular irritability) in various parts of the body. More severely
affected individuals develop seizures, usually in infancy or childhood.
Sometimes, these symptoms occur only during episodes of illness or fever.
html:p Some people with autosomal dominant hypocalcemia have high levels of calcium in
their urine (hypercalciuria), which can lead to deposits of calcium in the
kidneys (nephrocalcinosis) or the formation of kidney stones (nephrolithiasis).
These conditions can damage the kidneys and impair their function. Sometimes,
abnormal deposits of calcium form in the brain, typically in structures called
basal ganglia, which help control movement.
html:p A small percentage of severely affected individuals have features of a kidney
disorder called Bartter syndrome in addition to hypocalcemia. These features can
include a shortage of potassium (hypokalemia) and magnesium and a buildup of
the hormone aldosterone (hyperaldosteronism) in the blood. The abnormal balance
of molecules can raise the pH of the blood, which is known as metabolic
alkalosis. The combination of features of these two conditions is sometimes
referred to as autosomal dominant hypocalcemia with Bartter syndrome or Bartter
syndrome type V.
html:p There are two types of autosomal dominant hypocalcemia distinguished by their
genetic cause. The signs and symptoms of the two types are generally the same.
145 Autosomal dominant leukodystrophy with autonomic disease https://ghr.nlm.nih.gov/condition/autosomal-dominant-leukodystrophy-with-autonom The exact prevalence of ADLD is unknown. At least 70 affected individuals html code memo related-gene gene-symbol ghr-page ADLD db key 2016-09 2017-12-29
ic-disease have been described in the scientific literature, although this condition is html:p Autosomal dominant leukodystrophy with autonomic disease (ADLD) is one of a ad autosomal dominant LMNB1 https://ghr.nlm.nih.gov/gene/LMNB1 adult-onset autosomal dominant leukodystrophy with autonomic symptoms GTR C1868512
likely to be underdiagnosed. group of genetic disorders called leukodystrophies. Leukodystrophies are autosomal dominant adult-onset demyelinating leukodystrophy db key
characterized by abnormalities of the nervous system's white matter, which LMNB1-related adult-onset autosomal dominant leukodystrophy GeneReviews lad-ad
consists of nerve fibers covered by a fatty substance called myelin. Myelin db key
insulates and protects nerve fibers and promotes the rapid transmission of nerve MeSH D020279
impulses. db key
html:p People with ADLD develop signs and symptoms of the condition in adulthood, Orphanet 99027
typically in their forties or fifties. The first signs of the condition often db key
involve problems with the autonomic nervous system, which controls involuntary SNOMED CT 448054001
body processes such as the regulation of blood pressure and body temperature.
These problems include difficulty with bowel and bladder function, a sharp drop
in blood pressure upon standing (orthostatic hypotension), and erectile
dysfunction in men. Rarely, people experience an inability to sweat
(anhidrosis), which can lead to a dangerously high body temperature.
html:p In ADLD, movement difficulties often develop after the autonomic nervous system
problems. Affected individuals can have muscle stiffness (spasticity) or
weakness and involuntary rhythmic shaking, called intention tremor because it
worsens during movement. People with ADLD often have difficulty coordinating
movements (ataxia), including movements that involve judging distance or scale
(dysmetria), such as picking up a distant object, and rapidly alternating
movements (dysdiadochokinesis), including hand clapping or foot stomping. These
movement problems usually first affect the legs, but as the condition worsens,
the arms and eventually the face become involved. In some people with ADLD, the
symptoms worsen during episodes of fever, infection, or exposure to heat. Due to
difficulty walking and an unsteady gait, many affected individuals need a cane,
walker, or wheelchair for assistance.
html:p Intelligence is usually unaffected; however, people who have had ADLD for a long
time may have a decline in intellectual function (dementia). ADLD worsens
slowly, and affected individuals usually survive 10 to 20 years after the onset
of symptoms.
146 Autosomal dominant nocturnal frontal lobe epilepsy https://ghr.nlm.nih.gov/condition/autosomal-dominant-nocturnal-frontal-lobe-epil ADNFLE appears to be an uncommon form of epilepsy; its prevalence is html code memo related-gene gene-symbol ghr-page ADNFLE db key 2009-04 2017-12-29
epsy unknown. This condition has been reported in more than 100 families worldwide. html:p Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form ad autosomal dominant CHRNA2 https://ghr.nlm.nih.gov/gene/CHRNA2 GTR C1835905
of epilepsy that runs in families. This disorder causes seizures that usually related-gene gene-symbol ghr-page db key
occur at night (nocturnally) while an affected person is sleeping. Some people CHRNA4 https://ghr.nlm.nih.gov/gene/CHRNA4 GTR C1838049
with ADNFLE also have seizures during the day. related-gene gene-symbol ghr-page db key
html:p The seizures characteristic of ADNFLE tend to occur in clusters, with each one CHRNB2 https://ghr.nlm.nih.gov/gene/CHRNB2 GTR C1854335
lasting from a few seconds to a few minutes. Some people have mild seizures that related-gene gene-symbol ghr-page db key
simply cause them to wake up from sleep. Others have more severe episodes that KCNT1 https://ghr.nlm.nih.gov/gene/KCNT1 GTR C1864125
can include sudden, repetitive movements such as flinging or throwing motions of db key
the arms and bicycling movements of the legs. The person may get out of bed and GeneReviews adnfle
wander around, which can be mistaken for sleepwalking. The person may also cry db key
out or make moaning, gasping, or grunting sounds. These episodes are sometimes MeSH D017034
misdiagnosed as nightmares, night terrors, or panic attacks. db key
html:p In some types of epilepsy, including ADNFLE, a pattern of neurological symptoms OMIM 600513
called an aura often precedes a seizure. The most common symptoms associated db key
with an aura in people with ADNFLE are tingling, shivering, a sense of fear, OMIM 603204
dizziness (vertigo), and a feeling of falling or being pushed. Some affected db key
people have also reported a feeling of breathlessness, overly fast breathing OMIM 605375
(hyperventilation), or choking. It is unclear what brings on seizures in people db key
with ADNFLE. Episodes may be triggered by stress or fatigue, but in most cases OMIM 610353
the seizures do not have any recognized triggers. db key
html:p The seizures associated with ADNFLE can begin anytime from infancy to Orphanet 309
mid-adulthood, but most begin in childhood. The episodes tend to become milder db key
and less frequent with age. In most affected people, the seizures can be SNOMED CT 230445007
effectively controlled with medication. db key
html:p Most people with ADNFLE are intellectually normal, and there are no problems SNOMED CT 698021005
with their brain function between seizures. However, some people with ADNFLE
have experienced psychiatric disorders (such as schizophrenia), behavioral
problems, or intellectual disability. It is unclear whether these additional
features are directly related to epilepsy in these individuals.
147 Autosomal dominant partial epilepsy with auditory features https://ghr.nlm.nih.gov/condition/autosomal-dominant-partial-epilepsy-with-audit This condition appears to be uncommon, although its prevalence is unknown. html code memo related-gene gene-symbol ghr-page ADLTE db key 2008-07 2017-12-29
ory-features html:p Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an ad autosomal dominant LGI1 https://ghr.nlm.nih.gov/gene/LGI1 ADPEAF GTR C1838062
uncommon form of epilepsy that runs in families. This disorder causes seizures Autosomal dominant lateral temporal lobe epilepsy db key
usually characterized by sound-related (auditory) symptoms such as buzzing, Epilepsy, partial, with auditory features GeneReviews peaf
humming, or ringing. Some people experience more complex sounds during a ETL1 db key
seizure, such as specific voices or music, or changes in the volume of sounds. MeSH D004828
Some people with ADPEAF suddenly become unable to understand language before db key
losing consciousness during a seizure. This inability to understand speech is OMIM 600512
known as receptive aphasia. Less commonly, seizures may cause visual db key
hallucinations, a disturbance in the sense of smell, a feeling of dizziness or Orphanet 98820
spinning (vertigo), or other symptoms affecting the senses. db key
html:p Seizures associated with ADPEAF usually begin in adolescence or young adulthood. SNOMED CT 72103000
They may be triggered by specific sounds, such as a ringing telephone or
speech, but in most cases the seizures do not have any recognized triggers. In
most affected people, seizures are infrequent and effectively controlled with
medication.
html:p Most people with ADPEAF have seizures described as simple partial seizures,
which do not cause a loss of consciousness. These seizures are thought to begin
in a part of the brain called the lateral temporal lobe. In some people,
seizure activity may spread from the lateral temporal lobe to affect other
regions of the brain. If seizure activity spreads to affect the entire brain,
it causes a loss of consciousness, muscle stiffening, and rhythmic jerking.
Episodes that begin as partial seizures and spread throughout the brain are
known as secondarily generalized seizures.
148 Autosomal dominant vitreoretinochoroidopathy https://ghr.nlm.nih.gov/condition/autosomal-dominant-vitreoretinochoroidopathy ADVIRC is considered a rare disease. Its prevalence is unknown. html code memo related-gene gene-symbol ghr-page ADVIRC db key 2014-11 2017-12-29
html:p Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that ad autosomal dominant BEST1 https://ghr.nlm.nih.gov/gene/BEST1 vitreoretinochoroidopathy dominant GTR C1860406
affects several parts of the eyes, including the clear gel that fills the eye vitreoretinochoroidopathy with microcornea, glaucoma, and cataract db key
(the vitreous), the light-sensitive tissue that lines the back of the eye (the vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos MeSH D015785
retina), and the network of blood vessels within the retina (the choroid). The db key
eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, MeSH D058499
from mild reduction to complete loss, although some people with the condition db key
have normal vision. OMIM 193220
html:p The signs and symptoms of ADVIRC vary, even among members of the same family. db key
Many affected individuals have microcornea, in which the clear front covering of Orphanet 3086
the eye (cornea) is small and abnormally curved. The area behind the cornea can db key
also be abnormally small, which is described as a shallow anterior chamber. SNOMED CT 711162004
Individuals with ADVIRC can develop increased pressure in the eyes (glaucoma) or
clouding of the lens of the eye (cataract). In addition, some people have
breakdown (degeneration) of the vitreous or the choroid.
html:p A characteristic feature of ADVIRC, visible with a special eye exam, is a
circular band of excess coloring (hyperpigmentation) in the retina. This feature
can help physicians diagnose the disorder. Affected individuals may also have
white spots on the retina.
149 Autosomal recessive axonal neuropathy with neuromyotonia https://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neu Autosomal recessive axonal neuropathy with neuromyotonia is a rare form of html code memo related-gene gene-symbol ghr-page ARAN-NM db key 2014-09 2017-12-29
romyotonia inherited peripheral neuropathy. This group of conditions affects an estimated 1 html:p Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that ar autosomal recessive HINT1 https://ghr.nlm.nih.gov/gene/HINT1 autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia GTR CN074193
in 2,500 people. The prevalence of autosomal recessive axonal neuropathy with affects the peripheral nerves. Peripheral nerves connect the brain and spinal autosomal recessive neuromyotonia and axonal neuropathy db key
neuromyotonia is unknown. cord to muscles and to sensory cells that detect sensations such as touch, pain, Gamstorp-Wohlfart syndrome MeSH D010523
heat, and sound. myokymia, myotonia, and muscle wasting db key
html:p Axonal neuropathy, a characteristic feature of this condition, is caused by NMAN OMIM 137200
damage to a particular part of peripheral nerves called axons, which are the db key
extensions of nerve cells (neurons) that transmit nerve impulses. In people with Orphanet 324442
autosomal recessive axonal neuropathy with neuromyotonia, the damage primarily db key
causes progressive weakness and wasting (atrophy) of muscles in the feet, legs, SNOMED CT 711406009
and hands. Muscle weakness may be especially apparent during exercise (exercise
intolerance) and can lead to an unusual walking style (gait), frequent falls,
and joint deformities (contractures) in the hands and feet. In some affected
individuals, axonal neuropathy also causes decreased sensitivity to touch, heat,
or cold, particularly in the lower arms or legs.
html:p Another feature of this condition is neuromyotonia (also known as Isaac
syndrome). Neuromyotonia results from overactivation (hyperexcitability) of
peripheral nerves, which leads to delayed relaxation of muscles after voluntary
tensing (contraction), muscle cramps, and involuntary rippling movement of the
muscles (myokymia).
150 Autosomal recessive cerebellar ataxia type 1 https://ghr.nlm.nih.gov/condition/autosomal-recessive-cerebellar-ataxia-type-1 More than 100 people have been diagnosed with ARCA1. This condition was html code memo related-gene gene-symbol ghr-page ARCA1 db key 2015-01 2017-12-29
first discovered in individuals from the Beauce and Bas-Saint-Laurent regions of html:p Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition ar autosomal recessive SYNE1 https://ghr.nlm.nih.gov/gene/SYNE1 autosomal recessive spinocerebellar ataxia 8 GTR C1853116
Quebec, Canada, but it has since been found in populations worldwide. characterized by progressive problems with movement due to a loss (atrophy) of recessive ataxia of Beauce db key
nerve cells in the part of the brain that coordinates movement (the cerebellum). GeneReviews syne1ca-ar
Signs and symptoms of the disorder first appear in early to mid-adulthood. db key
People with this condition initially experience impaired speech (dysarthria), MeSH D002524
problems with coordination and balance (ataxia), or both. They may also have db key
difficulty with movements that involve judging distance or scale (dysmetria). OMIM 610743
Other features of ARCA1 include abnormal eye movements (nystagmus) and problems db key
following the movements of objects with the eyes. The movement problems are Orphanet 88644
slowly progressive, often resulting in the need for a cane, walker, or db key
wheelchair. SNOMED CT 230233000
151 Autosomal recessive congenital methemoglobinemia https://ghr.nlm.nih.gov/condition/autosomal-recessive-congenital-methemoglobinem The incidence of autosomal recessive congenital methemoglobinemia is html code memo related-gene gene-symbol ghr-page chronic familial methemoglobin reductase deficiency db key 2015-05 2017-12-29
ia unknown. html:p Autosomal recessive congenital methemoglobinemia is an inherited condition that ar autosomal recessive CYB5R3 https://ghr.nlm.nih.gov/gene/CYB5R3 congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency GTR C2749559
mainly affects the function of red blood cells. Specifically, it alters a congenital NADH-methemoglobin reductase deficiency db key
molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cytochrome b5 reductase deficiency GTR C2749560
cells and tissues throughout the body. In people with autosomal recessive deficiency of cytochrome-b5 reductase db key
congenital methemoglobinemia, some of the normal hemoglobin is replaced by an diaphorase deficiency ICD-10-CM D74.0
abnormal form called methemoglobin, which is unable to deliver oxygen to the NADH-CYB5R deficiency db key
body's tissues. As a result, tissues in the body become oxygen deprived, leading NADH-cytochrome b5 reductase deficiency MeSH D008708
to a bluish appearance of the skin, lips, and nails (cyanosis). db key
html:p There are two forms of autosomal recessive congenital methemoglobinemia: types I OMIM 250800
and II. People with type I have cyanosis from birth and may experience weakness db key
or shortness of breath related to the shortage of oxygen in their tissues. Orphanet 621
People with type II have cyanosis as well as severe neurological problems. After db key
a few months of apparently normal development, children with type II develop Orphanet 139373
severe brain dysfunction (encephalopathy), uncontrolled muscle tensing db key
(dystonia), and involuntary limb movements (choreoathetosis); also, the size of Orphanet 139380
their head remains small and does not grow in proportion with their body db key
(microcephaly). People with type II have severe intellectual disability; they SNOMED CT 234395000
can recognize faces and usually babble but speak no words. They can sit
unassisted and grip objects but have impaired motor skills that leave them
unable to walk. In type II, growth is often slowed. Abnormal facial muscle
movements can interfere with swallowing, which can lead to feeding difficulties
and further slow growth.
html:p People with autosomal recessive congenital methemoglobinemia type I have a
normal life expectancy, but people with type II often do not survive past early
adulthood.
152 Autosomal recessive congenital stationary night blindness https://ghr.nlm.nih.gov/condition/autosomal-recessive-congenital-stationary-night-blindness Autosomal recessive congenital stationary night blindness is likely a rare html code memo related-gene gene-symbol ghr-page autosomal recessive complete congenital stationary night blindness db key 2014-01 2017-12-29
t-blindness disease; however, its prevalence is unknown. html:p Autosomal recessive congenital stationary night blindness is a disorder of the ar autosomal recessive CABP4 https://ghr.nlm.nih.gov/gene/CABP4 autosomal recessive incomplete congenital stationary night blindness GTR C1850362
retina, which is the specialized tissue at the back of the eye that detects related-gene gene-symbol ghr-page db key
light and color. People with this condition typically have difficulty seeing and GPR179 https://ghr.nlm.nih.gov/gene/GPR179 GTR C1864877
distinguishing objects in low light (night blindness). For example, they may related-gene gene-symbol ghr-page db key
not be able to identify road signs at night or see stars in the night sky. They GRM6 https://ghr.nlm.nih.gov/gene/GRM6 GTR C2750747
also often have other vision problems, including loss of sharpness (reduced related-gene gene-symbol ghr-page db key
acuity), nearsightedness (myopia), involuntary movements of the eyes LRIT3 https://ghr.nlm.nih.gov/gene/LRIT3 GTR C3151193
(nystagmus), and eyes that do not look in the same direction (strabismus). related-gene gene-symbol ghr-page db key
html:p The vision problems associated with this condition are congenital, which means SLC24A1 https://ghr.nlm.nih.gov/gene/SLC24A1 GTR C3281215
they are present from birth. They tend to remain stable (stationary) over time. related-gene gene-symbol ghr-page db key
TRPM1 https://ghr.nlm.nih.gov/gene/TRPM1 GTR C3554399
db key
ICD-10-CM H53.63
db key
MeSH D009755
db key
OMIM 257270
db key
OMIM 610427
db key
OMIM 613216
db key
OMIM 613830
db key
OMIM 614565
db key
OMIM 615058
db key
Orphanet 215
db key
SNOMED CT 232061009
153 Autosomal recessive hyper-IgE syndrome https://ghr.nlm.nih.gov/condition/autosomal-recessive-hyper-ige-syndrome AR-HIES is a rare disorder whose prevalence is unknown. html code memo related-gene gene-symbol ghr-page AR-HIES db key 2015-10 2017-12-29
高免疫球蛋白E症候群 html:p Autosomal recessive hyper-IgE syndrome (AR-HIES) is a disorder of the immune ar autosomal recessive DOCK8 https://ghr.nlm.nih.gov/gene/DOCK8 autosomal recessive HIES GTR C0022398
Hyper IgE recurrent infection syndrome, autosomal recessive system. A hallmark feature of the condition is recurrent infections that are CID due to DOCK8 deficiency db key
severe and can be life-threatening. Skin infections can be caused by bacteria, combined immunodeficiency due to DOCK8 deficiency ICD-10-CM D82.4
viruses, or fungi. These infections cause rashes, blisters, accumulations of pus DOCK8 deficiency db key
(abscesses), open sores, and scaling. People with AR-HIES also tend to have DOCK8 immunodeficiency syndrome MeSH D007589
frequent bouts of pneumonia and other respiratory tract infections. hyper IgE recurrent infection syndrome, autosomal recessive db key
html:p Other immune system-related problems in people with AR-HIES include an hyper immunoglobulin E syndrome, autosomal recessive OMIM 243700
inflammatory skin disorder called eczema, food or environmental allergies, and hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive db key
asthma. In some affected individuals, the immune system malfunctions and attacks hyperimmunoglobulin E syndrome type 2 Orphanet 169446
the body's own tissues and organs, causing autoimmune disease. For example, non-skeletal hyper-IgE syndrome db key
autoimmunity can lead to abnormal destruction of red blood cells (hemolytic Orphanet 217390
anemia) in people with AR-HIES.
html:p AR-HIES is characterized by abnormally high levels of an immune system protein
called immunoglobulin E (IgE) in the blood; the levels are more than 10 times
higher than normal. IgE normally triggers an immune response against foreign
invaders in the body, particularly parasitic worms, and plays a role in
allergies. It is unclear why people with AR-HIES have such high levels of this
protein. People with AR-HIES also have highly elevated numbers of certain white
blood cells called eosinophils (hypereosinophilia). Eosinophils aid in the
immune response and are involved in allergic reactions.
html:p Some people with AR-HIES have neurological problems, such as paralysis that
affects the face or one side of the body (hemiplegia). Blockage of blood flow in
the brain or abnormal bleeding in the brain, both of which can lead to stroke,
can also occur in AR-HIES.
html:p People with AR-HIES have a greater-than-average risk of developing cancer,
particularly cancers of the blood or skin.
154 Autosomal recessive hypotrichosis https://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis The worldwide prevalence of autosomal recessive hypotrichosis is unknown. html code memo related-gene gene-symbol ghr-page AH db key 2013-04 2017-12-29
常染色体隐性遗传少毛症 In Japan, the condition is estimated to affect 1 in 10,000 individuals. html:p Autosomal recessive hypotrichosis is a condition that affects hair growth. ar autosomal recessive DSG4 https://ghr.nlm.nih.gov/gene/DSG4 autosomal recessive localized hypotrichosis GTR C1836672
People with this condition have sparse hair (hypotrichosis) on the scalp related-gene gene-symbol ghr-page autosomal recessive woolly hair with or without hypotrichosis db key
beginning in infancy. This hair is usually coarse, dry, and tightly curled LIPH https://ghr.nlm.nih.gov/gene/LIPH HTL GTR C1842839
(often described as woolly hair). Scalp hair may also be lighter in color than related-gene gene-symbol ghr-page hypotrichoses db key
expected and is fragile and easily broken. Affected individuals often cannot LPAR6 https://ghr.nlm.nih.gov/gene/LPAR6 hypotrichosis GTR C1848435
grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair LAH db key
may be sparse as well. Over time, the hair problems can remain stable or total hypotrichosis, Mari type MeSH D007039
progress to complete scalp hair loss (alopecia) and a decrease in body hair. db key
html:p Rarely, people with autosomal recessive hypotrichosis have skin problems OMIM 278150
affecting areas with sparse hair, such as redness (erythema), itchiness db key
(pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor OMIM 604379
hair growth, they may also develop bumps called hyperkeratotic follicular db key
papules that develop around hair follicles, which are specialized structures in OMIM 607903
the skin where hair growth occurs. db key
Orphanet 55654
db key
SNOMED CT 56558005
155 Autosomal recessive primary microcephaly https://ghr.nlm.nih.gov/condition/autosomal-recessive-primary-microcephaly The prevalence of all forms of microcephaly that are present from birth html code memo related-gene gene-symbol ghr-page MCPH db key 2011-04 2017-12-29
常染色体隐性原級性小腦症 (primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns html:p Autosomal recessive primary microcephaly (often shortened to MCPH, which stands ar autosomal recessive ASPM https://ghr.nlm.nih.gov/gene/ASPM microcephaly primary hereditary GTR C1837501
worldwide. About 200 families with MCPH have been reported in the medical for "microcephaly primary hereditary") is a condition in which infants are born related-gene gene-symbol ghr-page primary autosomal recessive microcephaly db key
literature. This condition is more common in several specific populations, such with a very small head and a small brain. The term "microcephaly" comes from the CDK5RAP2 https://ghr.nlm.nih.gov/gene/CDK5RAP2 true microcephaly GTR C1842109
as in northern Pakistan, where it affects an estimated 1 in 10,000 newborns. Greek words for "small head." related-gene gene-symbol ghr-page db key
html:p Infants with MCPH have an unusually small head circumference compared to other CENPJ https://ghr.nlm.nih.gov/gene/CENPJ GTR C1855081
infants of the same sex and age. Head circumference is the distance around the related-gene gene-symbol ghr-page db key
widest part of the head, measured by placing a measuring tape above the eyebrows CEP152 https://ghr.nlm.nih.gov/gene/CEP152 GTR C1858108
and ears and around the back of the head. Affected infants' brain volume is related-gene gene-symbol ghr-page db key
also smaller than usual, although they usually do not have any major KNL1 https://ghr.nlm.nih.gov/gene/KNL1 GTR C1858516
abnormalities in the structure of the brain. The head and brain grow throughout related-gene gene-symbol ghr-page db key
childhood and adolescence, but they continue to be much smaller than normal. MCPH1 https://ghr.nlm.nih.gov/gene/MCPH1 GTR C1858535
html:p MCPH causes intellectual disability, which is typically mild to moderate and related-gene gene-symbol ghr-page db key
does not become more severe with age. Most affected individuals have delayed STIL https://ghr.nlm.nih.gov/gene/STIL GTR C2675187
speech and language skills. Motor skills, such as sitting, standing, and related-gene gene-symbol ghr-page db key
walking, may also be mildly delayed. WDR62 https://ghr.nlm.nih.gov/gene/WDR62 GeneReviews microcephaly
html:p People with MCPH usually have few or no other features associated with the db key
condition. Some have a narrow, sloping forehead; mild seizures; problems with ICD-10-CM Q02
attention or behavior; or short stature compared to others in their family. The db key
condition typically does not affect any other major organ systems or cause other MeSH D008831
health problems. db key
OMIM 251200
db key
OMIM 604317
db key
OMIM 604321
db key
OMIM 604804
db key
OMIM 608393
db key
OMIM 608716
db key
OMIM 612703
db key
Orphanet 2512
db key
SNOMED CT 715981004
156 Autosomal recessive spastic ataxia of Charlevoix-Saguenay https://ghr.nlm.nih.gov/condition/autosomal-recessive-spastic-ataxia-of-charlevoix-saguena The incidence of ARSACS in the Charlevoix-Saguenay region of Quebec is html code memo related-gene gene-symbol ghr-page ARSACS db key 2013-06 2017-12-29
estimated to be 1 in 1,500 to 2,000 individuals. Outside of Quebec, ARSACS is html:p Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known ar autosomal recessive SACS https://ghr.nlm.nih.gov/gene/SACS Charlevoix-Saguenay spastic ataxia GTR C1849140
rare, but the incidence is unknown. as ARSACS, is a condition affecting muscle movement. People with ARSACS spastic ataxia of Charlevoix-Saguenay db key
typically have abnormal tensing of the muscles (spasticity), difficulty spastic ataxia, Charlevoix-Saguenay type GeneReviews arsacs
coordinating movements (ataxia), muscle wasting (amyotrophy), involuntary eye db key
movements (nystagmus), and speech difficulties (dysarthria). Other problems MeSH D001259
may include deformities of the fingers and feet, reduced sensation and weakness db key
in the arms and legs (peripheral neuropathy), yellow streaks of fatty tissue in SNOMED CT 702445005
the light-sensitive tissue at the back of the eye (hypermyelination of the
retina), and less commonly, leaks in one of the valves that control blood flow
through the heart (mitral valve prolapse). An unsteady gait is the first
symptom of ARSACS. It usually appears between the age of 12 months and 18
months, as toddlers are learning to walk. The signs and symptoms worsen over
the years, with increased spasticity and ataxia of the arms and legs. In some
cases spasticity disappears, but this apparent improvement is thought to be due
to degeneration of nerves in the arms and legs. Most affected individuals
require a wheelchair by the time they are in their thirties or forties.
html:p This condition was first seen in people of the Charlevoix-Saguenay region of
Quebec, Canada. The majority of people with ARSACS live in Quebec or have
recent ancestors from Quebec. People with ARSACS have also been identified in
Japan, Turkey, Tunisia, Spain, Italy, and Belgium. The signs and symptoms of
ARSACS seen in other countries differ from those in Quebec. In people with
ARSACS outside of Quebec, hypermyelination of the retina is seen less often,
intelligence may be below normal, and symptoms tend to appear at a later age.
157 Axenfeld-Rieger syndrome https://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome Axenfeld-Rieger syndrome has an estimated prevalence of 1 in 200,000 html code memo related-gene gene-symbol ghr-page ARS db key 2012-06 2017-12-29
people. html:p Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also ad autosomal dominant FOXC1 https://ghr.nlm.nih.gov/gene/FOXC1 Axenfeld and Rieger anomaly GTR C0265341
affect other parts of the body. This condition is characterized by abnormalities related-gene gene-symbol ghr-page Axenfeld anomaly db key
of the front part of the eye, an area known as the anterior segment. For PITX2 https://ghr.nlm.nih.gov/gene/PITX2 Axenfeld syndrome GTR C1832229
example, the colored part of the eye (the iris), may be thin or poorly AXRA db key
developed. The iris normally has a single central hole, called the pupil, AXRS GTR C2678503
through which light enters the eye. People with Axenfeld-Rieger syndrome often Rieger anomaly db key
have a pupil that is off-center (corectopia) or extra holes in the iris that can Rieger syndrome GTR C3714873
look like multiple pupils (polycoria). This condition can also cause db key
abnormalities of the cornea, which is the clear front covering of the eye. ICD-10-CM Q13.81
html:p About half of affected individuals develop glaucoma, a serious condition that db key
increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger MeSH D005124
syndrome, it most often develops in late childhood or adolescence, although it db key
can occur as early as infancy. Glaucoma can cause vision loss or blindness. OMIM 180500
html:p The signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts db key
of the body. Many affected individuals have distinctive facial features such as OMIM 601499
widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat db key
nasal bridge; and a prominent forehead. The condition is also associated with OMIM 602482
dental abnormalities including unusually small teeth (microdontia) or fewer than db key
normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have Orphanet 782
extra folds of skin around their belly button (redundant periumbilical skin). db key
Other, less common features can include heart defects, the opening of the SNOMED CT 204152008
urethra on the underside of the penis (hypospadias), narrowing of the anus (anal db key
stenosis), and abnormalities of the pituitary gland that can result in slow SNOMED CT 417604002
growth.
html:p Researchers have described at least three types of Axenfeld-Rieger syndrome. The
types, which are numbered 1 through 3, are distinguished by their genetic
cause.
158 Baller-Gerold syndrome https://ghr.nlm.nih.gov/condition/baller-gerold-syndrome The prevalence of Baller-Gerold syndrome is unknown, but this rare html code memo related-gene gene-symbol ghr-page BGS db key 2013-08 2017-12-29
condition probably affects fewer than 1 per million people. Fewer than 40 cases html:p Baller-Gerold syndrome is a rare condition characterized by the premature fusion ar autosomal recessive RECQL4 https://ghr.nlm.nih.gov/gene/RECQL4 craniosynostosis-radial aplasia syndrome GTR C0265308
have been reported in the medical literature. of certain skull bones (craniosynostosis) and abnormalities of bones in the craniosynostosis with radial defects db key
arms and hands. GeneReviews bgs
html:p People with Baller-Gerold syndrome have prematurely fused skull bones, most db key
often along the coronal suture, the growth line that goes over the head from ear MeSH D019465
to ear. Other sutures of the skull may be fused as well. These changes result db key
in an abnormally shaped head, a prominent forehead, and bulging eyes with OMIM 218600
shallow eye sockets (ocular proptosis). Other distinctive facial features can db key
include widely spaced eyes (hypertelorism), a small mouth, and a saddle-shaped Orphanet 1225
or underdeveloped nose. db key
html:p Bone abnormalities in the hands include missing fingers (oligodactyly) and SNOMED CT 77608001
malformed or absent thumbs. Partial or complete absence of bones in the forearm
is also common. Together, these hand and arm abnormalities are called radial ray
malformations.
html:p People with Baller-Gerold syndrome may have a variety of additional signs and
symptoms including slow growth beginning in infancy, small stature, and
malformed or missing kneecaps (patellae). A skin rash often appears on the arms
and legs a few months after birth. This rash spreads over time, causing patchy
changes in skin coloring, areas of thinning skin (atrophy), and small clusters
of blood vessels just under the skin (telangiectases). These chronic skin
problems are collectively known as poikiloderma.
html:p The varied signs and symptoms of Baller-Gerold syndrome overlap with features of
other disorders, namely Rothmund-Thomson syndrome and RAPADILINO syndrome.
These syndromes are also characterized by radial ray defects, skeletal
abnormalities, and slow growth. All of these conditions can be caused by
mutations in the same gene. Based on these similarities, researchers are
investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and
RAPADILINO syndrome are separate disorders or part of a single syndrome with
overlapping signs and symptoms.
159 Bannayan-Riley-Ruvalcaba syndrome https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome The prevalence of Bannayan-Riley-Ruvalcaba syndrome is unknown, although it html inheritance-pattern code memo related-gene ghr-page Bannayan-Ruvalcaba-Riley syndrome db-key db key 2012-09 2017-12-29
appears to be rare. Several dozen cases have been reported in the medical html:p Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a ad autosomal dominant https://ghr.nlm.nih.gov/gene/PTEN Bannayan-Zonana syndrome GTR C0265326
literature. Researchers suspect that the disorder is underdiagnosed because its large head size (macrocephaly), multiple noncancerous tumors and tumor-like BRRS db-key db key
signs and symptoms vary and some of them are subtle. growths called hamartomas, and dark freckles on the penis in males. The signs BZS GeneReviews phts
and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or Myhre-Riley-Smith syndrome db-key db key
become apparent in early childhood. Riley-Smith syndrome ICD-10-CM E71.440
html:p At least half of affected infants have macrocephaly, and many also have a high Ruvalcaba-Myhre-Smith syndrome db-key db key
birth weight and a large body size (macrosomia). Growth usually slows during Ruvalcaba-Myhre syndrome MeSH D006223
childhood, so affected adults are of normal height and body size. About half of db-key db key
all children with Bannayan-Riley-Ruvalcaba syndrome have intellectual disability OMIM 153480
or delayed development, particularly the development of speech and of motor db-key db key
skills such as sitting, crawling, and walking. These delays may improve with Orphanet 109
age. db-key db key
html:p About half of all people with Bannayan-Riley-Ruvalcaba syndrome develop SNOMED CT 234138005
hamartomas in their intestines, known as hamartomatous polyps. Other db-key db key
noncancerous growths often associated with Bannayan-Riley-Ruvalcaba syndrome SNOMED CT 3073006
include fatty tumors called lipomas and angiolipomas that develop under the
skin. Some affected individuals also develop hemangiomas, which are red or
purplish growths that consist of tangles of abnormal blood vessels. People with
Bannayan-Riley-Ruvalcaba syndrome may also have an increased risk of developing
certain cancers, although researchers are still working to determine the cancer
risks associated with this condition.
html:p Other signs and symptoms that have been reported in people with
Bannayan-Riley-Ruvalcaba syndrome include weak muscle tone (hypotonia) and other
muscle abnormalities, thyroid problems, and seizures. Skeletal abnormalities
have also been described with this condition, including an unusually large range
of joint movement (hyperextensibility), abnormal side-to-side curvature of the
spine (scoliosis), and a sunken chest (pectus excavatum).
html:p The features of Bannayan-Riley-Ruvalcaba syndrome overlap with those of another
disorder called Cowden syndrome. People with Cowden syndrome develop hamartomas
and other noncancerous growths; they also have an increased risk of developing
certain types of cancer. Both conditions can be caused by mutations in the PTEN gene.
Some people with Bannayan-Riley-Ruvalcaba syndrome have had relatives diagnosed with
Cowden syndrome, and other individuals have had the characteristic features of both conditions.
Based on these similarities, researchers have proposed that Bannayan-Riley-Ruvalcaba syndrome
and Cowden syndrome represent a spectrum of overlapping features known as PTEN
hamartoma tumor syndrome instead of two distinct conditions.
160 BAP1 tumor predisposition syndrome https://ghr.nlm.nih.gov/condition/bap1-tumor-predisposition-syndrome BAP1 tumor predisposition syndrome is a rare condition; its prevalence is html inheritance-pattern code memo gene-symbol synonym BAP1-related tumor predisposition syndrome db-key db key 2017-01 2017-12-29
unknown. More than 70 families with the condition have been described in the html:p BAP1 tumor predisposition syndrome is an inherited disorder that increases ad autosomal dominant BAP1 synonym BAP1-TPDS GTR C3280492
medical literature. the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, synonym COMMON syndrome db-key db key
most commonly certain types of tumors that occur in the skin, eyes, kidneys, and synonym cutaneous/ocular melanoma, atypical melanocytic proliferations, and other GeneReviews bap1-tpds
the tissue that lines the chest, abdomen, and the outer surface of the internal organs internal neoplasms db-key db key
(the mesothelium). Affected individuals can develop one or more types of tumor, MeSH D009386
and affected members of the same family can have different types. db-key db key
html:p Some people with BAP1 tumor predisposition syndrome develop growths in the skin known as Orphanet 289539
atypical Spitz tumors. People with this syndrome may have more than one of these tumors,
and they can have dozens. Atypical Spitz tumors are generally considered benign, although
it is unclear if they can become cancerous. Skin cancers are also associated with BAP1 tumor
predisposition syndrome, including cutaneous melanoma and basal cell carcinoma.
html:p A type of eye cancer called uveal melanoma is the most common cancerous tumor
in BAP1 tumor predisposition syndrome. Although uveal melanoma does not usually cause
any symptoms, some people with this type of cancer have blurred vision; small, moving dots
(floaters) or flashes of light in their vision; headaches; or a visible dark spot on the eye.
html:p People with BAP1 tumor predisposition syndrome are at risk of developing
malignant mesothelioma, which is cancer of the mesothelium. When associated with BAP1
tumor predisposition syndrome, malignant mesothelioma most often occurs in the membrane that
lines the abdomen and covers the abdominal organs (the peritoneum). It less commonly occurs
in the outer covering of the lungs (the pleura).
html:p A form of kidney cancer called clear cell renal cell carcinoma is also associated with the
condition. Researchers are still determining whether other forms of cancer are linked to
BAP1 tumor predisposition syndrome.
html:p When they occur in people with BAP1 tumor predisposition syndrome, cancers tend
to arise at a younger age and are often more aggressive than cancers in the general population.
The cancerous tumors in BAP1 tumor predisposition syndrome tend to spread (metastasize)
to other parts of the body. Survival of affected individuals with this syndrome is usually shorter
than in other people who have one of these cancers. However, individuals with malignant mesothelioma
as part of the BAP1 tumor predisposition syndrome appear to survive longer than those who
have the cancer without the syndrome.
161 Baraitser-Winter syndrome https://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have html code memo related-gene gene-symbol ghr-page BRWS db key 2013-04 2017-12-29
been reported in the medical literature. html:p Baraitser-Winter syndrome is a condition that affects the development of many ad autosomal dominant ACTB https://ghr.nlm.nih.gov/gene/ACTB cerebro-frontofacial syndrome, type 3 GTR C1855722
parts of the body, particularly the face and the brain. related-gene gene-symbol ghr-page Fryns-Aftimos syndrome db key
html:p An unusual facial appearance is the most common characteristic of ACTG1 https://ghr.nlm.nih.gov/gene/ACTG1 iris coloboma with ptosis, hypertelorism, and mental retardation GTR C3281235
Baraitser-Winter syndrome. Distinctive facial features can include widely spaced db key
eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis), GeneReviews baraitser-winter
high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space db key
between the nose and upper lip (philtrum), full cheeks, and a pointed chin. MeSH D054221
html:p Structural brain abnormalities are also present in most people with db key
Baraitser-Winter syndrome. These abnormalities are related to impaired neuronal OMIM 243310
migration, a process by which nerve cells (neurons) move to their proper db key
positions in the developing brain. The most frequent brain abnormality OMIM 614583
associated with Baraitser-Winter syndrome is pachygyria, which is an area of the db key
brain that has an abnormally smooth surface with fewer folds and grooves. Less Orphanet 2995
commonly, affected individuals have lissencephaly, which is similar to db key
pachygyria but involves the entire brain surface. These structural changes can SNOMED CT 702410002
cause mild to severe intellectual disability, developmental delay, and seizures.
html:p Other features of Baraitser-Winter syndrome can include short stature, ear
abnormalities and hearing loss, heart defects, presence of an extra (duplicated)
thumb, and abnormalities of the kidneys and urinary system. Some affected
individuals have limited movement of large joints, such as the elbows and knees,
which may be present at birth or develop over time. Rarely, people with
Baraitser-Winter syndrome have involuntary muscle tensing (dystonia).
162 Bardet-Biedl syndrome https://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome In most of North America and Europe, Bardet-Biedl syndrome has a prevalence html code memo related-gene gene-symbol ghr-page BBS db key 2013-09 2017-12-29
Bardet-Biedl氏综合症 of 1 in 140,000 to 1 in 160,000 newborns. The condition is more common on the html:p Bardet-Biedl syndrome is a disorder that affects many parts of the body. The ar autosomal recessive ARL6 https://ghr.nlm.nih.gov/gene/ARL6 GTR C0752166
island of Newfoundland (off the east coast of Canada), where it affects an signs and symptoms of this condition vary among affected individuals, even among related-gene gene-symbol ghr-page db key
estimated 1 in 17,000 newborns. It also occurs more frequently in the Bedouin members of the same family. BBS1 https://ghr.nlm.nih.gov/gene/BBS1 GeneReviews bbs
population of Kuwait, affecting about 1 in 13,500 newborns. html:p Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of related-gene gene-symbol ghr-page db key
vision occurs as the light-sensing tissue at the back of the eye (the retina) BBS2 https://ghr.nlm.nih.gov/gene/BBS2 MeSH D020788
gradually deteriorates. Problems with night vision become apparent by related-gene gene-symbol ghr-page db key
mid-childhood, followed by blind spots that develop in the side (peripheral) BBS4 https://ghr.nlm.nih.gov/gene/BBS4 OMIM 209900
vision. Over time, these blind spots enlarge and merge to produce tunnel vision. related-gene gene-symbol ghr-page db key
Most people with Bardet-Biedl syndrome also develop blurred central vision BBS5 https://ghr.nlm.nih.gov/gene/BBS5 Orphanet 110
(poor visual acuity) and become legally blind by adolescence or early adulthood. related-gene gene-symbol ghr-page db key
html:p Obesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal BBS7 https://ghr.nlm.nih.gov/gene/BBS7 SNOMED CT 232059000
weight gain typically begins in early childhood and continues to be an issue related-gene gene-symbol ghr-page db key
throughout life. Complications of obesity can include type 2 diabetes, high BBS9 https://ghr.nlm.nih.gov/gene/BBS9 SNOMED CT 5619004
blood pressure (hypertension), and abnormally high cholesterol levels related-gene gene-symbol ghr-page
(hypercholesterolemia). BBS10 https://ghr.nlm.nih.gov/gene/BBS10
html:p Other major signs and symptoms of Bardet-Biedl syndrome include the presence of related-gene gene-symbol ghr-page
extra fingers or toes (polydactyly), intellectual disability or learning BBS12 https://ghr.nlm.nih.gov/gene/BBS12
problems, and abnormalities of the genitalia. Most affected males produce related-gene gene-symbol ghr-page
reduced amounts of sex hormones (hypogonadism), and they are usually unable to CEP290 https://ghr.nlm.nih.gov/gene/CEP290
father biological children (infertile). Many people with Bardet-Biedl syndrome related-gene gene-symbol ghr-page
also have kidney abnormalities, which can be serious or life-threatening. MKKS https://ghr.nlm.nih.gov/gene/MKKS
html:p Additional features of Bardet-Biedl syndrome can include impaired speech, related-gene gene-symbol ghr-page
delayed development of motor skills such as standing and walking, behavioral MKS1 https://ghr.nlm.nih.gov/gene/MKS1
problems such as emotional immaturity and inappropriate outbursts, and related-gene gene-symbol ghr-page
clumsiness or poor coordination. Distinctive facial features, dental TRIM32 https://ghr.nlm.nih.gov/gene/TRIM32
abnormalities, unusually short or fused fingers or toes, and a partial or related-gene gene-symbol ghr-page
complete loss of the sense of smell (anosmia) have also been reported in some TTC8 https://ghr.nlm.nih.gov/gene/TTC8
people with Bardet-Biedl syndrome. Additionally, this condition can affect the
heart, liver, and digestive system.
163 Bare lymphocyte syndrome type I https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-i BLS I is a rare disorder with an unknown prevalence. About 30 affected html code memo related-gene gene-symbol ghr-page HLA class I deficiency db key 2017-08 2017-12-29
individuals have been described in the medical literature. The condition is html:p Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune ar autosomal recessive TAP1 https://ghr.nlm.nih.gov/gene/TAP1 ICD-10-CM D81.6
likely underdiagnosed, because doctors may not investigate the underlying cause system (primary immunodeficiency). Immunodeficiencies are conditions in which related-gene gene-symbol ghr-page db key
of respiratory tract infections. the immune system is not able to protect the body effectively from foreign TAP2 https://ghr.nlm.nih.gov/gene/TAP2 MeSH D007153
invaders such as bacteria or viruses. Starting in childhood, most people with related-gene gene-symbol ghr-page db key
BLS I develop recurrent bacterial infections in the lungs and airways TAPBP https://ghr.nlm.nih.gov/gene/TAPBP OMIM 604571
(respiratory tract). These recurrent infections can lead to a condition called
bronchiectasis, which damages the passages leading from the windpipe to the
lungs (bronchi) and can cause breathing problems.
html:p Many people with BLS I also have open sores (ulcers) on their skin, usually on
the face, arms, and legs. These ulcers typically develop in adolescence or young
adulthood. Some people with BLS I have no symptoms of the condition.
html:p People with BLS I have a shortage of specialized immune proteins called major
histocompatibility complex (MHC) class I proteins on cells, including
infection-fighting white blood cells (lymphocytes), which is where the condition
got its name.
163 Bare lymphocyte syndrome type II https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii BLS II is a rare condition. At least 100 cases have been reported in the html code memo related-gene gene-symbol ghr-page bare lymphocyte syndrome type 2 db key 2017-06 2017-12-29
裸淋巴细胞综合征II型 medical literature. While BLS II has been found in several populations html:p Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune ar autosomal recessive CIITA https://ghr.nlm.nih.gov/gene/CIITA BLS type II GTR C1859534
throughout the world, it appears to be especially prevalent in the Mediterranean system categorized as a form of combined immunodeficiency (CID). People with related-gene gene-symbol ghr-page major histocompatibility complex class II deficiency db key
region and North Africa. BLS II lack virtually all immune protection from bacteria, viruses, and fungi. RFX5 https://ghr.nlm.nih.gov/gene/RFX5 MHC class II deficiency GTR C1859535
They are prone to repeated and persistent infections that can be very serious or related-gene gene-symbol ghr-page SCID due to absence of class II HLA antigens db key
life-threatening. These infections are often caused by "opportunistic" RFXANK https://ghr.nlm.nih.gov/gene/RFXANK SCID, HLA class 2-negative GTR C1859536
organisms that ordinarily do not cause illness in people with a normal immune related-gene gene-symbol ghr-page SCID, HLA class II-negative db key
system. RFXAP https://ghr.nlm.nih.gov/gene/RFXAP severe combined immunodeficiency due to absent class II human leukocyte antigens GTR C1859537
html:p BLS II is typically diagnosed in the first year of life. Most affected infants severe combined immunodeficiency, HLA class II-negative db key
have persistent infections in the respiratory, gastrointestinal, and urinary GTR C1859538
tracts. Because of the infections, affected infants have difficulty absorbing db key
nutrients (malabsorption), and they grow more slowly than their peers. ICD-10-CM D81.7
Eventually, the persistent infections lead to organ failure. Without treatment, db key
individuals with BLS II usually do not survive past early childhood. MeSH D007153
html:p In people with BLS II, infection-fighting white blood cells (lymphocytes) are db key
missing specialized proteins on their surface called major histocompatibility OMIM 209920
complex (MHC) class II proteins, which is where the condition got its name. db key
Because BLS II is the most common and best studied form of a group of related Orphanet 572
conditions, it is often referred to as simply bare lymphocyte syndrome (BLS). db key
SNOMED CT 71904008
165 Bart-Pumphrey syndrome https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome Bart-Pumphrey syndrome is a rare disorder; its exact prevalence is unknown. html code memo related-gene gene-symbol ghr-page knuckle pads, deafness, and leukonychia syndrome db key 2012-11 2017-12-29
Only a few affected families and individual cases have been identified. html:p Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and ad autosomal dominant GJB2 https://ghr.nlm.nih.gov/gene/GJB2 knuckle pads, leukonychia, and sensorineural deafness GTR C0266004
hearing loss. db key
html:p People with Bart-Pumphrey syndrome typically have a white discoloration of the MeSH D007645
nails (leukonychia); the nails may also be thick and crumbly. Affected db key
individuals often have wart-like (verrucous) skin growths called knuckle pads on OMIM 149200
the knuckles of the fingers and toes. They may also have thickening of the skin db key
on the palms of the hands and soles of the feet (palmoplantar keratoderma). The SNOMED CT 1271009
skin abnormalities generally become noticeable during childhood.
html:p The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to
profound and is typically present from birth (congenital).
html:p The signs and symptoms of this disorder may vary even within the same family;
while almost all affected individuals have hearing loss, they may have different
combinations of the other associated features.
166 Barth syndrome https://ghr.nlm.nih.gov/condition/barth-syndrome Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals html:p Barth syndrome is a rare condition characterized by an enlarged and weakened xr X-linked recessive TAZ https://ghr.nlm.nih.gov/gene/TAZ 3-methylglutaconic aciduria type 2 db key 2014-07 2017-12-29
巴氏症候群 worldwide. More than 150 cases have been described in the scientific literature. heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal 3 methylglutaconic aciduria, type II GTR C0574083
myopathy), recurrent infections due to small numbers of white blood cells BTHS db key
(neutropenia), and short stature. Barth syndrome occurs almost exclusively in cardioskeletal myopathy with neutropenia and abnormal mitochondria GeneReviews barth
males. DNAJC19 defect db key
html:p In males with Barth syndrome, dilated cardiomyopathy is often present at birth MGA type 2 ICD-10-CM E78.71
or develops within the first months of life. Over time, the heart muscle becomes MGA type II db key
increasingly weakened and is less able to pump blood. Individuals with Barth TAZ defect MeSH D056889
syndrome may have elastic fibers in place of muscle fibers in some areas of the db key
heart muscle, which contributes to the cardiomyopathy. This condition is called OMIM 302060
endocardial fibroelastosis; it results in thickening of the muscle and impairs db key
its ability to pump blood. In people with Barth syndrome, the heart problems can Orphanet 111
lead to heart failure. In rare cases, the cardiomyopathy gets better over time db key
and affected individuals eventually have no symptoms of heart disease. SNOMED CT 297231002
html:p In Barth syndrome, skeletal myopathy, particularly of the muscles closest to the
center of the body (proximal muscles), is usually noticeable from birth and
causes low muscle tone (hypotonia). The muscle weakness often causes delay of
motor skills such as crawling and walking. Additionally, affected individuals
tend to experience extreme tiredness (fatigue) during strenuous physical
activity.
html:p Most males with Barth syndrome have neutropenia. The levels of white blood cells
can be consistently low (persistent), can vary from normal to low
(intermittent), or can cycle between regular episodes of normal and low
(cyclical). Neutropenia makes it more difficult for the body to fight off
foreign invaders such as bacteria and viruses, so affected individuals have an
increased risk of recurrent infections.
html:p Newborns with Barth syndrome are often smaller than normal, and their growth
continues to be slow throughout life. Some boys with this condition experience a
growth spurt in puberty and are of average height as adults, but many men with
Barth syndrome continue to have short stature in adulthood.
html:p Males with Barth syndrome often have distinctive facial features including
prominent cheeks. Affected individuals typically have normal intelligence but
often have difficulty performing tasks involving math or visual-spatial skills
such as puzzles.
html:p Males with Barth syndrome have increased levels of a substance called
3-methylglutaconic acid in their blood and urine. The amount of the acid does
not appear to influence the signs and symptoms of the condition. Barth syndrome
is one of a group of metabolic disorders that can be diagnosed by the presence
of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic
aciduria).
html:p Even though most features of Barth syndrome are present at birth or in infancy,
affected individuals may not experience health problems until later in life. The
age at which individuals with Barth syndrome display symptoms or are diagnosed
varies greatly. The severity of signs and symptoms among affected individuals is
also highly variable.
html:p Males with Barth syndrome have a reduced life expectancy. Many affected children
die of heart failure or infection in infancy or early childhood, but those who
live into adulthood can survive into their late forties.
167 Bartter syndrome https://ghr.nlm.nih.gov/condition/bartter-syndrome The exact prevalence of this disorder is unknown, although it likely html:p Bartter syndrome is a group of very similar kidney disorders that cause an ar autosomal recessive BSND https://ghr.nlm.nih.gov/gene/BSND aldosteronism with hyperplasia of the adrenal cortex db key 2011-02 2017-12-29
Bartter氏综合征 affects about 1 per million people worldwide. The condition appears to be more imbalance of potassium, sodium, chloride, and related molecules in the body. related-gene gene-symbol ghr-page Bartter disease GTR C0004775
巴特综合征 common in Costa Rica and Kuwait than in other populations. html:p In some cases, Bartter syndrome becomes apparent before birth. The disorder can CLCNKA https://ghr.nlm.nih.gov/gene/CLCNKA Bartter's syndrome db key
巴特氏症候群 cause polyhydramnios, which is an increased volume of fluid surrounding the related-gene gene-symbol ghr-page juxtaglomerular hyperplasia with secondary aldosteronism GTR C1846343
fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. CLCNKB https://ghr.nlm.nih.gov/gene/CLCNKB db key
html:p Beginning in infancy, affected individuals often fail to grow and gain weight at related-gene gene-symbol ghr-page GTR C1865270
the expected rate (failure to thrive). They lose excess amounts of salt (sodium KCNJ1 https://ghr.nlm.nih.gov/gene/KCNJ1 db key
chloride) in their urine, which leads to dehydration, constipation, and related-gene gene-symbol ghr-page GTR C2751312
increased urine production (polyuria). In addition, large amounts of calcium are SLC12A1 https://ghr.nlm.nih.gov/gene/SLC12A1 db key
lost through the urine (hypercalciuria), which can cause weakening of the bones GTR CN239220
(osteopenia). Some of the calcium is deposited in the kidneys as they are db key
concentrating urine, leading to hardening of the kidney tissue ICD-10-CM E26.81
(nephrocalcinosis). Bartter syndrome is also characterized by low levels of db key
potassium in the blood (hypokalemia), which can result in muscle weakness, MeSH D001477
cramping, and fatigue. Rarely, affected children develop hearing loss caused by db key
abnormalities in the inner ear (sensorineural deafness). OMIM 241200
html:p Two major forms of Bartter syndrome are distinguished by their age of onset and db key
severity. One form begins before birth (antenatal) and is often OMIM 601678
life-threatening. The other form, often called the classical form, begins in db key
early childhood and tends to be less severe. Once the genetic causes of Bartter OMIM 602522
syndrome were identified, researchers also split the disorder into different db key
types based on the genes involved. Types I, II, and IV have the features of OMIM 607364
antenatal Bartter syndrome. Because type IV is also associated with hearing db key
loss, it is sometimes called antenatal Bartter syndrome with sensorineural OMIM 613090
deafness. Type III usually has the features of classical Bartter syndrome. db key
Orphanet 112
db key
SNOMED CT 69194003
db key
SNOMED CT 707742001
168 Beare-Stevenson cutis gyrata syndrome https://ghr.nlm.nih.gov/condition/beare-stevenson-cutis-gyrata-syndrome Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its html:p Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by ad autosomal dominant FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 cutis gyrata syndrome of Beare and Stevenson db key 2008-02 2017-12-29
incidence is unknown. Fewer than 20 people with this condition have been skin abnormalities and the premature fusion of certain bones of the skull cutis gyrata syndrome of Beare-Stevenson GTR C1852406
reported worldwide. (craniosynostosis). This early fusion prevents the skull from growing normally db key
and affects the shape of the head and face. GeneReviews craniosynostosis
html:p Many of the characteristic facial features of Beare-Stevenson cutis gyrata db key
syndrome result from the premature fusion of the skull bones. The head is unable MeSH D003398
to grow normally, which leads to a cloverleaf-shaped skull, wide-set and db key
bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion MeSH D012873
of the skull bones also affects the growth of the brain, causing delayed db key
development and intellectual disability. OMIM 123790
html:p A skin abnormality called cutis gyrata is also characteristic of this disorder. db key
The skin has a furrowed and wrinkled appearance, particularly on the face, near Orphanet 1531
the ears, and on the palms and soles of the feet. Additionally, thick, dark, db key
velvety areas of skin (acanthosis nigricans) are sometimes found on the hands Orphanet 1555
and feet and in the genital region. db key
html:p Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can SNOMED CT 703528008
include a blockage of the nasal passages (choanal atresia), overgrowth of the
umbilical stump (tissue that normally falls off shortly after birth, leaving the
belly button), and abnormalities of the genitalia and anus. The medical
complications associated with this condition are often life-threatening in
infancy or early childhood.
Becker muscular dystrophy
貝克型肌肉萎縮症
related-gene-list
169 Beckwith-Wiedemann syndrome https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome Beckwith-Wiedemann syndrome affects an estimated 1 in 13,700 newborns html:p Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. ad autosomal dominant CDKN1C https://ghr.nlm.nih.gov/gene/CDKN1C BWS db key 2015-06 2017-12-29
Beckwith Wiedemann 氏综合症 worldwide. The condition may actually be more common than this estimate because It is classified as an overgrowth syndrome, which means that affected infants related-gene gene-symbol ghr-page Wiedemann-Beckwith syndrome (WBS) GTR C0004903
Beckwith Wiedemann 症候群 some people with mild symptoms are never diagnosed. are considerably larger than normal (macrosomia) and tend to be taller than H19 https://ghr.nlm.nih.gov/gene/H19 db key
their peers during childhood. Growth begins to slow by about age 8, and adults related-gene gene-symbol ghr-page GeneReviews bws
with this condition are not unusually tall. In some children with IGF2 https://ghr.nlm.nih.gov/gene/IGF2 db key
Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other related-gene gene-symbol ghr-page MeSH D001506
may grow abnormally large, leading to an asymmetric or uneven appearance. This KCNQ1OT1 https://ghr.nlm.nih.gov/gene/KCNQ1OT1 db key
unusual growth pattern, which is known as hemihyperplasia, usually becomes less related-chromosome name ghr-page OMIM 130650
apparent over time. 11 https://ghr.nlm.nih.gov/chromosome/11 db key
html:p The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected Orphanet 116
individuals. Some children with this condition are born with an opening in the db key
wall of the abdomen (an omphalocele) that allows the abdominal organs to SNOMED CT 81780002
protrude through the belly-button. Other abdominal wall defects, such as a soft
out-pouching around the belly-button (an umbilical hernia), are also common.
Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue
(macroglossia), which may interfere with breathing, swallowing, and speaking.
Other major features of this condition include abnormally large abdominal organs
(visceromegaly), creases or pits in the skin near the ears, low blood sugar
(hypoglycemia) in infancy, and kidney abnormalities.
html:p Children with Beckwith-Wiedemann syndrome are at an increased risk of developing
several types of cancerous and noncancerous tumors, particularly a form of
kidney cancer called Wilms tumor and a form of liver cancer called
hepatoblastoma. Tumors develop in about 10 percent of people with this
condition and almost always appear in childhood.
html:p Most children and adults with Beckwith-Wiedemann syndrome do not have serious
medical problems associated with the condition. Their life expectancy is usually
normal.
170 Behçet disease https://ghr.nlm.nih.gov/condition/behcet-disease Behçet disease is most common in Mediterranean countries, the Middle East, html:p Behçet disease is an inflammatory condition that affects many parts of the body. u pattern unknown HLA-B https://ghr.nlm.nih.gov/gene/HLA-B Adamantiades-Behcet disease db key 2017-06 2017-12-29
白塞氏症 Japan, and other parts of Asia. However, it has been found in populations The health problems associated with Behçet disease result from widespread Behcet disease GTR C0004943
worldwide.The highest prevalence of Behçet disease has been reported in northern inflammation of blood vessels (vasculitis). This inflammation most commonly Behcet syndrome db key
Turkey, where the disorder affects up to 420 in 100,000 people. The disorder is affects small blood vessels in the mouth, genitals, skin, and eyes. Behcet triple symptom complex ICD-10-CM M35.2
rare in northern European countries and the United States, where it generally html:p Painful mouth sores called aphthous ulcers are usually the first sign of Behçet Behcet's syndrome db key
affects fewer than 1 in 100,000 people. disease. These sores can occur on the lips, tongue, inside the cheeks, the roof malignant aphthosis MeSH D001528
of the mouth, the throat, and the tonsils. The ulcers look like common canker Old Silk Route disease db key
sores, and they typically heal within one to two weeks. About 75 percent of all triple symptom complex OMIM 109650
people with Behçet disease develop similar ulcers on the genitals. These ulcers db key
occur most frequently on the scrotum in men and on the labia in women. Orphanet 117
html:p Behçet disease can also cause painful bumps and sores on the skin. Most db key
affected individuals develop pus-filled bumps that resemble acne. These bumps SNOMED CT 310701003
can occur anywhere on the body. Some affected people also have red, tender
nodules called erythema nodosum. These nodules usually develop on the legs but
can also occur on the arms, face, and neck.
html:p An inflammation of the eye called uveitis is found in more than half of people
with Behçet disease. Eye problems are more common in younger people with the
disease and affect men more often than women. Uveitis can result in blurry
vision and an extreme sensitivity to light (photophobia). Rarely, inflammation
can also cause eye pain and redness. If untreated, the eye problems associated
with Behçet disease can lead to blindness.
html:p Joint involvement is also common in Behçet disease. Often this affects one joint
at a time, with each affected joint becoming swollen and painful and then
getting better.
html:p Less commonly, Behçet disease can affect the brain and spinal cord (central
nervous system), gastrointestinal tract, large blood vessels, heart, lungs, and
kidneys. Central nervous system abnormalities can lead to headaches, confusion,
personality changes, memory loss, impaired speech, and problems with balance and
movement. Involvement of the gastrointestinal tract can lead to a hole in the
wall of the intestine (intestinal perforation), which can cause serious
infection and may be life-threatening.
html:p The signs and symptoms of Behçet disease usually begin in a person's twenties or
thirties, although they can appear at any age. Some affected people have
relatively mild symptoms that are limited to sores in the mouth and on the
genitals. Others have more severe symptoms affecting various parts of the body,
including the eyes and the vital organs. The features of Behçet disease
typically come and go over a period of months or years. In most affected
individuals, the health problems associated with this disorder improve with age.
171 Benign chronic pemphigus https://ghr.nlm.nih.gov/condition/benign-chronic-pemphigus Benign chronic pemphigus is a rare condition; its prevalence is unknown. html:p Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin ad autosomal dominant ATP2C1 https://ghr.nlm.nih.gov/gene/ATP2C1 benign familial pemphigus db key 2016-06 2017-12-29
condition that usually appears in early adulthood. The disorder is characterized familial benign chronic pemphigus GTR C0085106
by red, raw, and blistered areas of skin that occur most often in skin folds, Hailey-Hailey disease db key
such as the groin, armpits, neck, and under the breasts. These inflamed areas pemphigus, benign familial MeSH D016506
can become crusty or scaly and may itch and burn. The skin problems tend to db key
worsen with exposure to moisture (such as sweat), friction, and hot weather. OMIM 169600
html:p The severity of benign chronic pemphigus varies from relatively mild episodes of db key
skin irritation to widespread, persistent areas of raw and blistered skin that Orphanet 2841
interfere with daily activities. Affected skin may become infected with bacteria db key
or fungi, leading to pain and odor. Although the condition is described as SNOMED CT 79468000
"benign" (noncancerous), in rare cases the skin lesions may develop into a form
of skin cancer called squamous cell carcinoma.
html:p Many affected individuals also have white lines running the length of their
fingernails. These lines do not cause any problems, but they can be useful for
diagnosing benign chronic pemphigus.
related-gene-list
172 Benign essential blepharospasm https://ghr.nlm.nih.gov/condition/benign-essential-blepharospasm Benign essential blepharospasm affects an estimated 20,000 to 50,000 people html:p Benign essential blepharospasm is a condition characterized by abnormal blinking ad autosomal dominant DRD5 https://ghr.nlm.nih.gov/gene/DRD5 essential blepharospasm db key 2010-05 2017-12-29
良性自發性眼瞼痙攣症 in the United States. For unknown reasons, it occurs in women more than twice or spasms of the eyelids. This condition is a type of dystonia, which is a related-gene gene-symbol ghr-page eyelid twitching GTR C2930898
as often as it occurs in men. group of movement disorders involving uncontrolled tensing of the muscles TOR1A https://ghr.nlm.nih.gov/gene/TOR1A primary blepharospasm db key
(muscle contractions), rhythmic shaking (tremors), and other involuntary spasm of eyelids ICD-10-CM G24.5
movements. Benign essential blepharospasm is different from the common, db key
temporary eyelid twitching that can be caused by fatigue, stress, or caffeine. MeSH D001764
html:p The signs and symptoms of benign essential blepharospasm usually appear in mid- db key
to late adulthood and gradually worsen. The first symptoms of the condition OMIM 606798
include an increased frequency of blinking, dry eyes, and eye irritation that is db key
aggravated by wind, air pollution, sunlight, and other irritants. These Orphanet 93955
symptoms may begin in one eye, but they ultimately affect both eyes. As the db key
condition progresses, spasms of the muscles surrounding the eyes cause SNOMED CT 59026006
involuntary winking or squinting. Affected individuals have increasing
difficulty keeping their eyes open, which can lead to severe vision impairment.
html:p In more than half of all people with benign essential blepharospasm, the
symptoms of dystonia spread beyond the eyes to affect other facial muscles and
muscles in other areas of the body. When people with benign essential
blepharospasm also experience involuntary muscle spasms affecting the tongue and
jaw (oromandibular dystonia), the combination of signs and symptoms is known as
Meige syndrome.
related-gene-list
173 Benign familial neonatal seizures https://ghr.nlm.nih.gov/condition/benign-familial-neonatal-seizures Benign familial neonatal seizures occurs in approximately 1 in 100,000 html:p Benign familial neonatal seizures (BFNS) is a condition characterized by ad autosomal dominant KCNQ2 https://ghr.nlm.nih.gov/gene/KCNQ2 benign familial neonatal convulsions db key 2011-05 2017-12-29
newborns. recurrent seizures in newborn babies. The seizures begin around day 3 of life related-gene gene-symbol ghr-page benign familial neonatal epilepsy GTR C1852581
and usually go away within 1 to 4 months. The seizures can involve only one side KCNQ3 https://ghr.nlm.nih.gov/gene/KCNQ3 benign neonatal convulsions db key
of the brain (focal seizures) or both sides (generalized seizures). Many benign neonatal epilepsy GTR C1852587
infants with this condition have generalized tonic-clonic seizures (also known BFNS db key
as grand mal seizures). This type of seizure involves both sides of the brain GTR CN200689
and affects the entire body, causing muscle rigidity, convulsions, and loss of db key
consciousness. GeneReviews bfns
html:p A test called an electroencephalogram (EEG) is used to measure the electrical db key
activity of the brain. Abnormalities on an EEG test, measured during no seizure GeneReviews kcnq3-dis
activity, can indicate a risk for seizures. However, infants with BFNS usually db key
have normal EEG readings. In some affected individuals, the EEG shows a specific MeSH D020936
abnormality called the theta pointu alternant pattern. By age 2, most affected db key
individuals who had EEG abnormalities have a normal EEG reading. OMIM 121200
html:p Typically, seizures are the only symptom of BFNS, and most people with this db key
condition develop normally. However, some affected individuals develop OMIM 121201
intellectual disability that becomes noticeable in early childhood. A small db key
percentage of people with BFNS also have a condition called myokymia, which is SNOMED CT 230410004
an involuntary rippling movement of the muscles. In addition, in about 15
percent of people with BFNS, recurrent seizures (epilepsy) will come back later
in life after the seizures associated with BFNS have gone away. The age that
epilepsy begins is variable.
related-gene-list
174 Benign recurrent intrahepatic cholestasis https://ghr.nlm.nih.gov/condition/benign-recurrent-intrahepatic-cholestasis BRIC is a rare disorder. Although the prevalence is unknown, this condition html:p Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of ar autosomal recessive ABCB11 https://ghr.nlm.nih.gov/gene/ABCB11 ABCB11-related intrahepatic cholestasis db key 2012-04 2017-12-29
is less common than the related disorder PFIC, which affects approximately 1 in liver dysfunction called cholestasis. During these episodes, the liver cells related-gene gene-symbol ghr-page ATP8B1-related intrahepatic cholestasis GTR C1855731
50,000 to 100,000 people worldwide. have a reduced ability to release a digestive fluid called bile. Because the ATP8B1 https://ghr.nlm.nih.gov/gene/ATP8B1 BRIC db key
problems with bile release occur within the liver (intrahepatic), the condition low gamma-GT familial intrahepatic cholestasis GTR C2608083
is described as intrahepatic cholestasis. Episodes of cholestasis can last from recurrent familial intrahepatic cholestasis db key
weeks to months, and the time between episodes, during which there are usually GeneReviews pfic
no symptoms, can vary from weeks to years. db key
html:p The first episode of cholestasis usually occurs in an affected person's teens or MeSH D002780
twenties. An attack typically begins with severe itchiness (pruritus), followed db key
by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. OMIM 243300
Other general signs and symptoms that occur during these episodes include a db key
vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a OMIM 605479
lack of appetite. A common feature of BRIC is the reduced absorption of fat in db key
the body, which leads to excess fat in the feces (steatorrhea). Because of a SNOMED CT 31155007
lack of fat absorption and loss of appetite, affected individuals often lose
weight during episodes of cholestasis.
html:p BRIC is divided into two types, BRIC1 and BRIC2, based on the genetic cause of
the condition. The signs and symptoms are the same in both types.
html:p This condition is called benign because it does not cause lasting damage to the
liver. However, episodes of liver dysfunction occasionally develop into a more
severe, permanent form of liver disease known as progressive familial
intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be
part of a spectrum of intrahepatic cholestasis disorders of varying severity.
related-gene-list
175 Bernard-Soulier syndrome https://ghr.nlm.nih.gov/condition/bernard-soulier-syndrome Bernard-Soulier syndrome is estimated to occur in 1 in 1 million html:p Bernard-Soulier syndrome is a bleeding disorder associated with abnormal ad autosomal dominant GP1BA https://ghr.nlm.nih.gov/gene/GP1BA BDPLT1 db key 2016-06 2017-12-29
individuals; however, some doctors think the condition is underdiagnosed and may platelets, which are blood cell fragments involved in blood clotting. In code memo related-gene gene-symbol ghr-page bleeding disorder, platelet-type, 1 GTR C0005129
be more common. affected individuals, platelets are unusually large and fewer in number than ar autosomal recessive GP1BB https://ghr.nlm.nih.gov/gene/GP1BB BSS db key
usual (a combination known as macrothrombocytopenia). People with related-gene gene-symbol ghr-page deficiency of platelet glycoprotein 1b MeSH D001606
Bernard-Soulier syndrome tend to bruise easily and have an increased risk of GP9 https://ghr.nlm.nih.gov/gene/GP9 giant platelet syndrome db key
nosebleeds (epistaxis). They may also experience abnormally heavy or prolonged glycoprotein Ib, platelet, deficiency of OMIM 153670
bleeding following minor injury or surgery or even without trauma (spontaneous hemorrhagioparous thrombocytic dystrophy db key
bleeding). In some affected individuals, bleeding under the skin causes tiny red macrothrombocytopenia, familial Bernard-Soulier type OMIM 231200
or purple spots on the skin called petechiae. Women with Bernard-Soulier platelet glycoprotein Ib deficiency db key
syndrome often have heavy or prolonged menstrual periods (menorrhagia). von Willebrand factor receptor deficiency Orphanet 274
db key
related-gene-list SNOMED CT 54569005
176 Beta-ketothiolase deficiency https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency Beta-ketothiolase deficiency appears to be very rare. It is estimated to html:p Beta-ketothiolase deficiency is an inherited disorder in which the body cannot ar autosomal recessive ACAT1 https://ghr.nlm.nih.gov/gene/ACAT1 2-alpha-methyl-3-hydroxybutyricacidemia db key 2008-01 2017-12-29
Beta硫解酶缺乏症 affect fewer than 1 in 1 million newborns. effectively process a protein building block (amino acid) called isoleucine. 3-alpha-ketothiolase deficiency GTR C1536500
β-酮硫解酶缺乏症 This disorder also impairs the body's ability to process ketones, which are 3-alpha-ktd deficiency db key
molecules produced during the breakdown of fats. 3-alpha-oxothiolase deficiency MeSH D018901
html:p The signs and symptoms of beta-ketothiolase deficiency typically appear between 3-Ketothiolase deficiency db key
the ages of 6 months and 24 months. Affected children experience episodes of 3-Methylhydroxybutyric acidemia OMIM 203750
vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and, alpha-Methylacetoacetic aciduria db key
occasionally, seizures. These episodes, which are called ketoacidotic attacks, BKT Orphanet 134
sometimes lead to coma. Ketoacidotic attacks are frequently triggered by MAT deficiency db key
infections, periods without food (fasting), or increased intake of protein-rich Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated SNOMED CT 124258007
foods. Mitochondrial acetoacetyl-CoA thiolase deficiency db key
T2 deficiency SNOMED CT 124265004
β-ketothiolase deficiency db key
related-gene-list SNOMED CT 237953006
177 Beta-mannosidosis https://ghr.nlm.nih.gov/condition/beta-mannosidosis Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 html:p Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar ar autosomal recessive MANBA https://ghr.nlm.nih.gov/gene/MANBA beta-D-mannosidosis db key 2008-01 2017-12-29
affected individuals have been reported worldwide. It is difficult to determine molecules are processed in the body. beta-mannosidase deficiency GTR C4048196
the specific incidence of beta-mannosidosis, because people with mild or html:p Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of lysosomal beta A mannosidosis db key
non-specific symptoms may never be diagnosed. onset ranges between infancy and adolescence. Almost all individuals with lysosomal beta-mannosidase deficiency MeSH D044905
beta-mannosidosis experience intellectual disability, and some have delayed db key
motor development and seizures. Affected individuals may be extremely OMIM 248510
introverted, prone to depression, or have behavioral problems such as db key
hyperactivity, impulsivity or aggression. Orphanet 118
html:p People with beta-mannosidosis may experience an increased risk of respiratory db key
and ear infections, hearing loss, speech impairment, swallowing difficulties, SNOMED CT 238047006
poor muscle tone (hypotonia), and reduced sensation or other nervous system
abnormalities in the extremities (peripheral neuropathy). They may also exhibit
distinctive facial features and clusters of enlarged blood vessels forming
small, dark red spots on the skin (angiokeratomas).
related-gene-list
178 Beta-propeller protein-associated neurodegeneration https://ghr.nlm.nih.gov/condition/beta-propeller-protein-associated-neurodegener BPAN is a rare disorder. Its prevalence is unknown, but it is thought to html:p Beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that xd X-linked dominant WDR45 https://ghr.nlm.nih.gov/gene/WDR45 BPAN db key 2017-05 2017-12-29
ation account for between 1 and 2 percent of all cases of NBIA disorders. About 100 damages the nervous system and is progressive, which means that it gradually NBIA5 GTR CN168656
affected individuals have been described in the medical literature. Some gets worse. Affected individuals develop a buildup of iron in the brain that can neurodegeneration with brain iron accumulation 5 db key
individuals who have been diagnosed with intellectual disability or early-onset be seen with medical imaging. For this reason, BPAN is classified as a type of SENDA GeneReviews bpan
parkinsonism based on their signs and symptoms have later been found to have disorder called neurodegeneration with brain iron accumulation (NBIA), although static encephalopathy of childhood with neurodegeneration in adulthood db key
BPAN when genetic testing was done. the iron accumulation may not occur until late in the disease. MeSH D020271
html:p Many people with BPAN have recurrent seizures (epilepsy) beginning in infancy or db key
early childhood. Several different types of seizures can occur in this OMIM 300894
disorder, even in the same individual. Often the first type to occur are febrile db key
seizures, which are triggered by a high fever. Affected individuals can also Orphanet 329284
experience generalized tonic-clonic seizures (also known as grand mal seizures).
This type of seizure affects the entire body, causing muscle rigidity,
convulsions, and loss of consciousness. Other seizure types that can occur in
this disorder include short lapses in awareness that can have the appearance of
staring spells or daydreaming (absence seizures, also called petit mal
seizures), sudden episodes of weak muscle tone (atonic seizures), involuntary
muscle twitches (myoclonic seizures), or more pronounced movements called
epileptic spasms. Some individuals have seizure patterns that resemble those in
epileptic syndromes, such as West syndrome or Lennox-Gastaut syndrome.
html:p Children with BPAN also have intellectual disability, delayed development
including significant problems with vocabulary and producing speech (expressive
language), and difficulty coordinating movements (ataxia). Ataxia can affect the
ability to walk and perform fine motor skills such as using utensils. Affected
individuals can have behavioral changes that are often compared to features of a
disorder called Rett syndrome. These features include repeated hand wringing or
clasping (stereotypic hand movements); teeth grinding (bruxism); sleep
disturbances; and problems with communication and social interaction
characteristic of autism spectrum disorder.
html:p In late adolescence or early adulthood, individuals with BPAN may begin to
experience a gradual loss of intellectual functioning (cognitive decline) that
can lead to a severe loss of thinking and reasoning abilities (dementia).
Worsening problems with movement also occur, including dystonia and
parkinsonism. Dystonia is a condition characterized by involuntary, sustained
muscle contractions. In BPAN, the dystonia often starts in the arms.
Parkinsonism can include unusually slow movement (bradykinesia), rigidity,
tremors, an inability to hold the body upright and balanced (postural
instability), and a shuffling walk that can cause recurrent falls.
html:p The lifespan of people with BPAN varies. With proper management of their signs
and symptoms, affected individuals can live into middle age. Death may result
from complications of dementia or movement problems, such as injuries from falls
or swallowing difficulties (dysphagia) that can lead to a bacterial lung
infection called aspiration pneumonia.
related-gene-list
179 Beta thalassemia https://ghr.nlm.nih.gov/condition/beta-thalassemia Beta thalassemia is a fairly common blood disorder worldwide. Thousands html:p Beta thalassemia is a blood disorder that reduces the production of hemoglobin. ar autosomal recessive HBB https://ghr.nlm.nih.gov/gene/HBB erythroblastic anemia db key 2015-09 2017-12-29
乙型地中海貧血 of infants with beta thalassemia are born each year. Beta thalassemia occurs Hemoglobin is the iron-containing protein in red blood cells that carries Mediterranean anemia GTR C0005283
most frequently in people from Mediterranean countries, North Africa, the Middle oxygen to cells throughout the body. microcytemia, beta type db key
East, India, Central Asia, and Southeast Asia. html:p In people with beta thalassemia, low levels of hemoglobin lead to a lack of thalassemia, beta type GTR C1858990
oxygen in many parts of the body. Affected individuals also have a shortage of db key
red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more GeneReviews b-thal
serious complications. People with beta thalassemia are at an increased risk db key
of developing abnormal blood clots. ICD-10-CM D56.1
html:p Beta thalassemia is classified into two types depending on the severity of db key
symptoms: thalassemia major (also known as Cooley's anemia) and thalassemia MeSH D017086
intermedia. Of the two types, thalassemia major is more severe. db key
html:p The signs and symptoms of thalassemia major appear within the first 2 years of OMIM 603902
life. Children develop life-threatening anemia. They do not gain weight and db key
grow at the expected rate (failure to thrive) and may develop yellowing of the OMIM 613985
skin and whites of the eyes (jaundice). Affected individuals may have an db key
enlarged spleen, liver, and heart, and their bones may be misshapen. Some Orphanet 848
adolescents with thalassemia major experience delayed puberty. Many people with db key
thalassemia major have such severe symptoms that they need frequent blood Orphanet 231214
transfusions to replenish their red blood cell supply. Over time, an influx of db key
iron-containing hemoglobin from chronic blood transfusions can lead to a buildup Orphanet 231222
of iron in the body, resulting in liver, heart, and hormone problems. db key
html:p Thalassemia intermedia is milder than thalassemia major. The signs and symptoms SNOMED CT 111572002
of thalassemia intermedia appear in early childhood or later in life. Affected db key
individuals have mild to moderate anemia and may also have slow growth and bone SNOMED CT 15326009
abnormalities. db key
SNOMED CT 191189009
db key
SNOMED CT 26682008
db key
SNOMED CT 27080008
db key
SNOMED CT 39586009
db key
SNOMED CT 47084006
db key
SNOMED CT 5967006
db key
SNOMED CT 61395005
db key
SNOMED CT 65959000
db key
SNOMED CT 716682000
db key
SNOMED CT 79592006
db key
related-gene-list SNOMED CT 86715000
180 Beta-ureidopropionase deficiency https://ghr.nlm.nih.gov/condition/beta-ureidopropionase-deficiency The prevalence of beta-ureidopropionase deficiency is unknown. A small html:p Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of ar autosomal recessive UPB1 https://ghr.nlm.nih.gov/gene/UPB1 beta-alanine synthase deficiency db key 2014-08 2017-12-29
β-脲基丙酸酶缺乏症 number of affected individuals from populations around the world have been molecules called N-carbamyl-beta-aminoisobutyric acid and deficiency of beta-ureidopropionase GTR C1291512
described in the medical literature. In Japan, the prevalence of N-carbamyl-beta-alanine to be released in the urine. Neurological problems db key
beta-ureidopropionase deficiency has been estimated as 1 in 6,000 people. ranging from mild to severe also occur in some affected individuals. MeSH D011686
Researchers suggest that in many affected individuals with absent or mild html:p People with beta-ureidopropionase deficiency can have low muscle tone db key
neurological problems, the condition may never be diagnosed. (hypotonia), seizures, speech difficulties, developmental delay, intellectual OMIM 613161
disability, and autistic behaviors that affect communication and social db key
interaction. Some people with this condition have an abnormally small head size Orphanet 65287
(microcephaly); they may also have brain abnormalities that can be seen with db key
medical imaging. Deterioration of the optic nerve, which carries visual SNOMED CT 124511000
information from the eyes to the brain, can lead to vision loss in this
condition.
html:p In some people with beta-ureidopropionase deficiency, the disease causes no
neurological problems and can only be diagnosed by laboratory testing.
related-gene-list
181 Bietti crystalline dystrophy https://ghr.nlm.nih.gov/condition/bietti-crystalline-dystrophy Bietti crystalline dystrophy has been estimated to occur in 1 in 67,000 html:p Bietti crystalline dystrophy is a disorder in which numerous small, yellow or ar autosomal recessive CYP4V2 https://ghr.nlm.nih.gov/gene/CYP4V2 BCD db key 2012-11 2017-12-29
Bietti晶體結晶樣角膜視網膜營養不良 people. It is more common in people of East Asian descent, especially those of white crystal-like deposits of fatty (lipid) compounds accumulate in the Bietti crystalline corneoretinal dystrophy GTR C1859486
Bietti结晶样营养障碍 Chinese and Japanese background. Researchers suggest that Bietti crystalline light-sensitive tissue that lines the back of the eye (the retina). The deposits Bietti crystalline retinopathy db key
dystrophy may be underdiagnosed because its symptoms are similar to those of damage the retina, resulting in progressive vision loss. Bietti tapetoretinal degeneration with marginal corneal dystrophy GeneReviews bietti-cd
other eye disorders that progressively damage the retina. html:p People with Bietti crystalline dystrophy typically begin noticing vision db key
problems in their teens or twenties. They experience a loss of sharp vision MeSH D012162
(reduction in visual acuity) and difficulty seeing in dim light (night db key
blindness). They usually lose areas of vision (visual field loss), most often OMIM 210370
side (peripheral) vision. Color vision may also be impaired. db key
html:p The vision problems may worsen at different rates in each eye, and the severity Orphanet 41751
and progression of symptoms varies widely among affected individuals, even db key
within the same family. However, most people with this condition become legally SNOMED CT 312927001
blind by their forties or fifties. Most affected individuals retain some degree
of vision, usually in the center of the visual field, although it is typically
blurry and cannot be corrected by glasses or contact lenses. Vision impairment
that cannot be improved with corrective lenses is called low vision.
related-gene-list
182 Biotin-thiamine-responsive basal ganglia disease https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disea Biotin-thiamine-responsive basal ganglia disease is a rare disorder; its html:p Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the ar autosomal recessive SLC19A3 https://ghr.nlm.nih.gov/gene/SLC19A3 BBGD db key 2014-01 2017-12-29
se prevalence is unknown. Approximately 48 cases have been reported in the medical nervous system, including a group of structures in the brain called the basal biotin-responsive basal ganglia disease GTR C1843807
literature; most of these are individuals from Arab populations. ganglia, which help control movement. As its name suggests, the condition may BTBGD db key
improve if the vitamins biotin and thiamine are given as treatment. Without thiamine metabolism dysfunction syndrome 2 GeneReviews bgd-biotin
early and lifelong vitamin treatment, people with biotin-thiamine-responsive thiamine-responsive encephalopathy db key
basal ganglia disease experience a variety of neurological problems that thiamine transporter-2 deficiency MeSH D001480
gradually get worse. The occurrence of specific neurological problems and their THMD2 db key
severity vary even among affected individuals within the same family. OMIM 607483
html:p The signs and symptoms of biotin-thiamine-responsive basal ganglia disease db key
usually begin between the ages of 3 and 10, but the disorder can appear at any SNOMED CT 703522009
age. Many of the neurological problems that can occur in
biotin-thiamine-responsive basal ganglia disease affect movement, and can
include involuntary tensing of various muscles (dystonia), muscle rigidity,
muscle weakness on one or both sides of the body (hemiparesis or quadriparesis),
problems coordinating movements (ataxia), and exaggerated reflexes
(hyperreflexia). Movement problems can also affect the face, and may include the
inability to move facial muscles due to facial nerve paralysis (supranuclear
facial palsy), paralysis of the eye muscles (external ophthalmoplegia),
difficulty chewing or swallowing (dysphagia), and slurred speech. Affected
individuals may also experience confusion, loss of previously learned skills,
intellectual disability, and seizures. Severe cases may result in coma and
become life-threatening.
html:p Typically, the neurological symptoms occur as increasingly severe episodes,
which may be triggered by fever, injury, or other stresses on the body. Less
commonly, the signs and symptoms persist at the same level or slowly increase in
severity over time rather than occurring as episodes that come and go. In these
individuals, the neurological problems are usually limited to dystonia, seizure
disorders, and delay in the development of mental and motor skills (psychomotor
delay).
related-gene-list
183 Biotinidase deficiency https://ghr.nlm.nih.gov/condition/biotinidase-deficiency Profound or partial biotinidase deficiency occurs in approximately 1 in html:p Biotinidase deficiency is an inherited disorder in which the body is unable to ar autosomal recessive BTD https://ghr.nlm.nih.gov/gene/BTD BIOT db key 2014-12 2017-12-29
生物素酶缺乏症 60,000 newborns recycle the vitamin biotin. If this condition is not recognized and treated, its BTD deficiency GTR C0220754
signs and symptoms typically appear within the first few months of life, carboxylase deficiency, multiple, late-onset db key
although it can also become apparent later in childhood. late-onset biotin-responsive multiple carboxylase deficiency GeneReviews biotin
html:p Profound biotinidase deficiency, the more severe form of the condition, can late-onset multiple carboxylase deficiency db key
cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and multiple carboxylase deficiency, late-onset ICD-10-CM D81.810
vision loss, problems with movement and balance (ataxia), skin rashes, hair loss db key
(alopecia), and a fungal infection called candidiasis. Affected children also MeSH D028921
have delayed development. Lifelong treatment can prevent these complications db key
from occurring or improve them if they have already developed. OMIM 253260
html:p Partial biotinidase deficiency is a milder form of this condition. Without db key
treatment, affected children may experience hypotonia, skin rashes, and hair Orphanet 148
loss, but these problems may appear only during illness, infection, or other db key
times of stress. SNOMED CT 8808004
Biotin-thiamine-responsive basal ganglia disease
synonym-list db-key-list
184 Bipolar disorder https://ghr.nlm.nih.gov/condition/bipolar-disorder Bipolar disorder is a common form of mental illness. At some point during html:p Bipolar disorder is a mental health condition that causes extreme shifts in u pattern unknown synonym bipolar affective psychosis key 2017-12-29
躁鬱症 their lifetime, 2.4 percent of people worldwide and 4.4 percent of people in the mood, energy, and behavior. This disorder most often appears in late adolescence synonym bipolar spectrum disorder db-key C1839839
双相情感障碍 United States are diagnosed with this condition. or early adulthood, although symptoms can begin at any time of life. synonym depression, bipolar key
早期稱為躁狂抑鬱 html:p People with bipolar disorder experience both dramatic "highs," called manic synonym manic depressive illness db-key C1852197
episodes, and "lows," called depressive episodes. These episodes can last from key
hours to weeks, and many people have no symptoms between episodes. Manic db-key C1864994
episodes are characterized by increased energy and activity, irritability, key
restlessness, an inability to sleep, and reckless behavior. Depressive episodes db-key C1970943
are marked by low energy and activity, a feeling of hopelessness, and an key
inability to perform everyday tasks. People with bipolar disorder often have db-key C1970944
repeated thoughts of death and suicide, and they have a much greater risk of key
dying by suicide than the general population. db-key C1970945
html:p Manic and depressive episodes can include psychotic symptoms, such as false key
perceptions (hallucinations) or strongly held false beliefs (delusions). Mixed db-key C2700438
episodes, which have features of manic and depressive episodes at the same time, key
also occur in some affected individuals. db-key C2700439
html:p Bipolar disorder often occurs with other mental health conditions, including key
anxiety disorders (such as panic attacks), behavioral disorders (such as db-key C2700440
attention-deficit hyperactivity disorder), and substance abuse. key
db-key F31
key
db-key F31.0
key
db-key F31.1
key
db-key F31.2
key
db-key F31.3
key
db-key F31.4
key
db-key F31.5
key
db-key F31.6
key
db-key F31.7
key
db-key F31.8
key
db-key F31.9
key
db-key F31.10
key
db-key F31.11
key
db-key F31.12
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db-key F31.13
key
db-key F31.30
key
db-key F31.31
key
db-key F31.32
key
db-key F31.60
key
db-key F31.61
key
db-key F31.62
key
db-key F31.63
key
db-key F31.64
key
db-key F31.70
key
db-key F31.71
key
db-key F31.72
key
db-key F31.73
key
db-key F31.74
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db-key F31.75
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db-key F31.76
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db-key F31.77
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db-key F31.78
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db-key F31.81
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db-key F31.89
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db-key D001714
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db-key 125480
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db-key 309200
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db-key 609633
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db-key 611535
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db-key 611536
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db-key 612357
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db-key 612371
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db-key 612372
key
related-gene-list 13746004
185 Birt-Hogg-Dubé syndrome https://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome Birt-Hogg-Dubé syndrome is rare; its exact incidence is unknown. This html:p Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and ad autosomal dominant FLCN https://ghr.nlm.nih.gov/gene/FLCN BHD db key 2013-01 2017-12-29
比爾特霍格杜貝症候群 condition has been reported in more than 400 families. increases the risk of certain types of tumors. Its signs and symptoms vary among fibrofolliculomas with trichodiscomas and acrochordons GTR C0346010
(Cancer) affected individuals. Hornstein-Birt-Hogg-Dubé syndrome db key
html:p Birt-Hogg-Dubé syndrome is characterized by multiple noncancerous (benign) skin Hornstein-Knickenberg syndrome GeneReviews bhd
tumors, particularly on the face, neck, and upper chest. These growths typically db key
first appear in a person's twenties or thirties and become larger and more MeSH D058249
numerous over time. Affected individuals also have an increased chance of db key
developing cysts in the lungs and an abnormal accumulation of air in the chest OMIM 135150
cavity (pneumothorax) that may result in the collapse of a lung. Additionally, db key
Birt-Hogg-Dubé syndrome is associated with an elevated risk of developing Orphanet 122
cancerous or noncancerous kidney tumors. Other types of cancer have also been db key
reported in affected individuals, but it is unclear whether these tumors are SNOMED CT 110985001
actually a feature of Birt-Hogg-Dubé syndrome.
related-gene-list
186 Björnstad syndrome https://ghr.nlm.nih.gov/condition/bjornstad-syndrome Björnstad syndrome is a rare condition, although its prevalence is unknown. html:p Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing ar autosomal recessive BCS1L https://ghr.nlm.nih.gov/gene/BCS1L Bjornstad syndrome db key 2014-03 2017-12-29
It has been found in populations worldwide. problems. Affected individuals have a condition known as pili torti, which BJS GTR C0266006
means "twisted hair," so named because the strands appear twisted when viewed deafness and pili torti, Bjornstad type db key
under a microscope. The hair is brittle and breaks easily, leading to short hair pili torti and nerve deafness MeSH D028361
that grows slowly. In Björnstad syndrome, pili torti usually affects only the pili torti-deafness syndrome db key
hair on the head; eyebrows, eyelashes, and hair on other parts of the body are pili torti-sensorineural hearing loss OMIM 262000
normal. The proportion of hairs affected and the severity of brittleness and PTD db key
breakage can vary. This hair abnormality commonly begins before the age of 2. It Orphanet 123
may become milder with age, particularly after puberty. db key
html:p People with Björnstad syndrome also have hearing problems that become evident Orphanet 2889
in early childhood. The hearing loss, which is caused by changes in the inner db key
ear (sensorineural deafness), can range from mild to severe. Mildly affected SNOMED CT 67817003
individuals may be unable to hear sounds at certain frequencies, while severely
affected individuals may not be able to hear at all.
related-gene-list
187 Bladder cancer https://ghr.nlm.nih.gov/condition/bladder-cancer In the United States, bladder cancer is the fourth most common type of html:p Bladder cancer is a disease in which certain cells in the bladder become n not inherited FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 Cancer of the bladder db key 2007-01 2017-12-29
cancer in men and the ninth most common cancer in women. About 45,000 men and abnormal and multiply without control or order. The bladder is a hollow, related-gene gene-symbol ghr-page Malignant tumor of urinary bladder GTR C0005684
17,000 women are diagnosed with bladder cancer each year. muscular organ in the lower abdomen that stores urine until it is ready to be HRAS https://ghr.nlm.nih.gov/gene/HRAS Urinary bladder cancer db key
excreted from the body. The most common type of bladder cancer begins in cells related-gene gene-symbol ghr-page ICD-10-CM C67
lining the inside of the bladder and is called transitional cell carcinoma RB1 https://ghr.nlm.nih.gov/gene/RB1 db key
(TCC). related-gene gene-symbol ghr-page ICD-10-CM C67.0
html:p Bladder cancer may cause blood in the urine, pain during urination, frequent TP53 https://ghr.nlm.nih.gov/gene/TP53 db key
urination, or the feeling that one needs to urinate without results. These signs related-gene gene-symbol ghr-page ICD-10-CM C67.1
and symptoms are not specific to bladder cancer, however. They also can be TSC1 https://ghr.nlm.nih.gov/gene/TSC1 db key
caused by noncancerous conditions such as infections. related-chromosome name ghr-page ICD-10-CM C67.2
9 https://ghr.nlm.nih.gov/chromosome/9 db key
ICD-10-CM C67.3
db key
ICD-10-CM C67.4
db key
ICD-10-CM C67.5
db key
ICD-10-CM C67.6
db key
ICD-10-CM C67.7
db key
ICD-10-CM C67.8
db key
ICD-10-CM C67.9
db key
ICD-10-CM D09.0
db key
MeSH D001749
db key
OMIM 109800
db key
Orphanet 157980
db key
SNOMED CT 126885006
db key
SNOMED CT 255108000
db key
related-gene-list SNOMED CT 399326009
188 Blau syndrome https://ghr.nlm.nih.gov/condition/blau-syndrome Although Blau syndrome appears to be uncommon, its prevalence is unknown. html:p Blau syndrome is an inflammatory disorder that primarily affects the skin, ad autosomal dominant NOD2 https://ghr.nlm.nih.gov/gene/NOD2 arthrocutaneouveal granulomatosis db key 2017-12 2017-12-29
joints, and eyes. Signs and symptoms begin in childhood, usually before age 4. early-onset sarcoidosis GTR C1836122
html:p A form of skin inflammation called granulomatous dermatitis is typically the familial granulomatosis, Blau type db key
earliest sign of Blau syndrome. This skin condition causes a persistent rash familial juvenile systemic granulomatosis GTR C1861303
that can be scaly or involve hard lumps (nodules) that can be felt under the granulomatous inflammatory arthritis, dermatitis, and uveitis, familial db key
skin. The rash is usually found on the torso, arms, and legs. pediatric granulomatous arthritis MeSH D012507
html:p Arthritis is another common feature of Blau syndrome. In affected individuals, db key
arthritis is characterized by inflammation of the lining of joints (the OMIM 186580
synovium). This inflammation, known as synovitis, is associated with swelling db key
and joint pain. Synovitis usually begins in the joints of the hands, feet, Orphanet 90340
wrists, and ankles. As the condition worsens, it can involve additional joints db key
and restrict movement by decreasing the range of motion in many joints. SNOMED CT 699861000
html:p Most people with Blau syndrome also develop uveitis, which is swelling and
inflammation of the middle layer of the eye (the uvea). The uvea includes the
colored portion of the eye (the iris) and related tissues that underlie the
white part of the eye (the sclera). Uveitis can cause eye irritation and pain,
increased sensitivity to bright light (photophobia), and blurred vision. Other
structures in the eye can also become inflamed, including the outermost
protective layer of the eye (the conjunctiva), the tear glands, the specialized
light-sensitive tissue that lines the back of the eye (the retina), and the
nerve that carries information from the eye to the brain (the optic nerve).
Inflammation of any of these structures can lead to severe vision impairment or
blindness.
html:p Some individuals with Blau syndrome develop kidney disease (nephritis) due to
inflammation. They may also have deposits of calcium in the kidneys
(nephrocalcinosis) and often develop chronic kidney failure. Inflammation of
blood vessels (vasculitis) can cause scarring and tissue death in the vessels
and impedes blood flow to tissues and organs.
html:p Less commonly, Blau syndrome can affect other parts of the body, including the
liver, spleen, salivary gland, brain, blood vessels, lungs, and heart.
Inflammation involving these organs and tissues can impair their function and
cause life-threatening complications. Rarely, affected individuals have episodes
of fever or high blood pressure in the blood vessels that carry blood from the
heart to the lungs (pulmonary hypertension).
related-gene-list
189 Blepharocheilodontic syndrome https://ghr.nlm.nih.gov/condition/blepharocheilodontic-syndrome BCD syndrome is a rare disorder; its prevalence is unknown. At least 50 html:p Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It ad autosomal dominant CDH1 https://ghr.nlm.nih.gov/gene/CDH1 BCD syndrome db key 2017-08 2017-12-29
affected individuals have been described in the medical literature. mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth related-gene gene-symbol ghr-page BCDS MeSH D000015
(-dontic). CTNND1 https://ghr.nlm.nih.gov/gene/CTNND1 blepharo-cheilo-dontic syndrome db key
html:p People with BCD syndrome have lower eyelids that turn out so that the inner blepharo-cheilo-odontic syndrome OMIM 119580
surface is exposed (ectropion). The outside of the lower lid may sag away from clefting, ectropion, and conical teeth db key
the eye (euryblepharon), and the eyelids may not be able to close completely ectropion, inferior, with cleft lip and/or palate SNOMED CT 717911008
(lagophthalmia). There can be extra eyelashes (distichiasis) on the upper Elschnig syndrome
eyelids, ranging from a few extra eyelashes to a full extra set. These eyelashes lagophthalmia with bilateral cleft lip and palate
do not grow along the edge of the eyelid with the normal lashes, but out of its
inner lining. When the abnormal eyelashes touch the eyeball, they can cause
damage to the clear covering of the eye (cornea). Affected individuals may also
have widely spaced eyes (hypertelorism), a flat face, and a high forehead.
html:p Other features of BCD syndrome usually include openings on both sides of the
upper lip (bilateral cleft lip) and an opening in the roof of the mouth (cleft
palate). Affected individuals may have fewer teeth than normal (oligodontia) and
their teeth are often smaller than usual and cone-shaped. The dental
abnormalities affect both primary teeth (sometimes called "baby teeth") and
secondary (permanent) teeth. Other frequent features include sparse, fine hair
and abnormal nails.
html:p Occasionally people with BCD syndrome have additional features, including an
obstruction of the anal opening (imperforate anus); malformation or absence of
the butterfly-shaped gland in the lower neck called the thyroid, resulting in
lack of thyroid gland function; or fused fingers or toes (syndactyly). Very
rarely, affected individuals have incompletely formed arms or legs (limb
reduction defects) or a spinal cord abnormality known as spina bifida.
related-gene-list
190 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) https://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome The prevalence of BPES is unknown. html:p Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition ad autosomal dominant FOXL2 https://ghr.nlm.nih.gov/gene/FOXL2 blepharophimosis syndrome db key 2013-10 2017-12-29
先天性瞼口狹小症 s-syndrome that mainly affects development of the eyelids. People with this condition have blepharophimosis, ptosis, and epicanthus inversus GTR C0220663
a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and BPES db key
an upward fold of the skin of the lower eyelid near the inner corner of the eye GeneReviews bpes
(epicanthus inversus). In addition, there is an increased distance between the db key
inner corners of the eyes (telecanthus). Because of these eyelid abnormalities, MeSH D005141
the eyelids cannot open fully, and vision may be limited. db key
html:p Other structures in the eyes and face may be mildly affected by BPES. Affected OMIM 110100
individuals are at an increased risk of developing vision problems such as db key
nearsightedness (myopia) or farsightedness (hyperopia) beginning in childhood. Orphanet 126
They may also have eyes that do not point in the same direction (strabismus) or db key
"lazy eye" (amblyopia) affecting one or both eyes. People with BPES may also SNOMED CT 79833006
have distinctive facial features including a broad nasal bridge, low-set ears,
or a shortened distance between the nose and upper lip (a short philtrum).
html:p There are two types of BPES, which are distinguished by their signs and
symptoms. Both types I and II include the eyelid malformations and other facial
features. Type I is also associated with an early loss of ovarian function
(primary ovarian insufficiency) in women, which causes their menstrual periods
to become less frequent and eventually stop before age 40. Primary ovarian
insufficiency can lead to difficulty conceiving a child (subfertility) or a
complete inability to conceive (infertility).
related-gene-list
191 Bloom syndrome https://ghr.nlm.nih.gov/condition/bloom-syndrome Bloom syndrome is a rare disorder. Only a few hundred affected individuals html:p Bloom syndrome is an inherited disorder characterized by short stature, a skin ar autosomal recessive BLM https://ghr.nlm.nih.gov/gene/BLM Bloom-Torre-Machacek syndrome db key 2015-04 2017-12-29
布盧姆綜合徵 have been described in the medical literature, about one-third of whom are of rash that develops after exposure to the sun, and a greatly increased risk of Bloom's syndrome GTR C0005859
Central and Eastern European (Ashkenazi) Jewish background. cancer. congenital telangiectatic erythema db key
html:p People with Bloom syndrome are usually smaller than 97 percent of the population GeneReviews bloom
in both height and weight from birth, and they rarely exceed 5 feet tall in db key
adulthood. MeSH D001816
html:p Affected individuals have skin that is sensitive to sun exposure, and they db key
usually develop a butterfly-shaped patch of reddened skin across the nose and OMIM 210900
cheeks. A skin rash can also appear on other areas that are typically exposed to db key
the sun, such as the back of the hands and the forearms. Small clusters of Orphanet 125
enlarged blood vessels (telangiectases) often appear in the rash; telangiectases db key
can also occur in the eyes. Other skin features include patches of skin that SNOMED CT 4434006
are lighter or darker than the surrounding areas (hypopigmentation or
hyperpigmentation respectively). These patches appear on areas of the skin that
are not exposed to the sun, and their development is not related to the rashes.
html:p People with Bloom syndrome have an increased risk of cancer. They can develop
any type of cancer, but the cancers arise earlier in life than they do in the
general population, and affected individuals often develop more than one type of
cancer.
html:p Individuals with Bloom syndrome have a high-pitched voice and distinctive facial
features including a long, narrow face; a small lower jaw; and prominent nose
and ears. Other features can include learning disabilities, an increased risk of
diabetes, chronic obstructive pulmonary disease (COPD), and mild immune system
abnormalities leading to recurrent infections of the upper respiratory tract,
ears, and lungs during infancy. Men with Bloom syndrome usually do not produce
sperm and as a result are unable to father children (infertile). Women with the
disorder generally have reduced fertility and experience menopause at an earlier
age than usual.
related-gene-list
192 Bohring-Opitz syndrome https://ghr.nlm.nih.gov/condition/bohring-opitz-syndrome Bohring-Opitz syndrome is thought to be a rare condition, although its html:p Bohring-Opitz syndrome is a rare condition that affects the development of many ad autosomal dominant ASXL1 https://ghr.nlm.nih.gov/gene/ASXL1 Bohring syndrome db key 2016-12 2017-12-29
exact prevalence is unknown. More than 40 affected individuals have been parts of the body. BOPS GTR C0796232
described in the scientific literature. html:p People with Bohring-Opitz syndrome have abnormal development of the head. They C-like syndrome db key
often have a small head size (microcephaly) and a skull abnormality called Oberklaid-Danks syndrome MeSH D003398
trigonocephaly, which gives the forehead a pointed appearance. Brain Opitz trigonocephaly-like syndrome db key
abnormalities result in profound to severe intellectual disability and MeSH D008607
developmental delay in affected individuals. Many people with this condition db key
experience seizures. OMIM 605039
html:p Characteristic eye problems occur in people with Bohring-Opitz syndrome. They db key
may have protruding eyes (exophthalmos), eyes that do not point in the same Orphanet 97297
direction (strabismus), widely spaced eyes (hypertelorism), or outside corners db key
of the eyes that point upward (upslanting palpebral fissures). Affected SNOMED CT 720565000
individuals may have nearsightedness (myopia) or abnormalities in the
light-sensitive tissue at the back of the eye (the retina) or the nerves that
carry information from the eyes to the brain (optic nerves), which can impair
vision.
html:p Additional facial features of Bohring-Opitz syndrome can include a flat nasal
bridge, nostrils that open to the front rather than downward (anteverted nares),
a high arch or opening in the roof of the mouth (high arched or cleft palate),
a small lower jaw (micrognathia), low-set ears that are rotated backward, a red
birthmark called a port-wine stain on the forehead, and a low frontal hairline
with excessive facial hair (hirsutism).
html:p Individuals with Bohring-Opitz syndrome have poor growth before birth
(intrauterine growth retardation). During infancy they experience a failure to
gain weight and grow at the expected rate (failure to thrive) and often have
feeding difficulties.
html:p People with this condition often have characteristic positioning of the upper
body, known as Bohring-Opitz syndrome posture. This posture consists of
slouching shoulders, permanently bent elbows and wrists, and a hand deformity in
which the wrist or all of the fingers are angled outward toward the fifth
finger (ulnar deviation). Joint deformities called contractures in the knees,
hips, or other joints that are apparent at birth and abnormal muscle tone may
also occur in this condition. Affected individuals can have recurrent infections
and heart, kidney, or genital abnormalities. In rare cases, a childhood form of
kidney cancer known as Wilms tumor can develop.
html:p Some individuals with Bohring-Opitz syndrome do not survive past early
childhood, while others live into adolescence or early adulthood. The most
common causes of death are recurrent episodes of an abnormally slow heartbeat
(bradycardia), which eventually leads to a fatal lack of oxygen in the body's
organs and tissues; abnormalities of the throat and airways that cause short
pauses in breathing (obstructive apnea); and lung infections.
related-gene-list
193 Boomerang dysplasia https://ghr.nlm.nih.gov/condition/boomerang-dysplasia Boomerang dysplasia is a rare disorder; its exact prevalence is unknown. html:p Boomerang dysplasia is a disorder that affects the development of bones ad autosomal dominant FLNB https://ghr.nlm.nih.gov/gene/FLNB Piepkorn dysplasia db key 2011-09 2017-12-29
迴旋鏢發育不良 Approximately 10 affected individuals have been identified. throughout the body. Affected individuals are born with inward- and GTR C0432201
upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. db key
Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some GeneReviews flnb-dis
cases absent. As a result of the limb bone abnormalities, individuals with this db key
condition have very short arms and legs. Pronounced bowing of the upper leg MeSH D010009
bones (femurs) gives them a "boomerang" shape. db key
html:p Some individuals with boomerang dysplasia have a sac-like protrusion of the OMIM 112310
brain (encephalocele). They may also have an opening in the wall of the abdomen db key
(an omphalocele) that allows the abdominal organs to protrude through the navel. Orphanet 1263
Affected individuals typically have a distinctive nose that is broad with very db key
small nostrils and an underdeveloped partition between the nostrils (septum). SNOMED CT 254054000
html:p Individuals with boomerang dysplasia typically have an underdeveloped rib cage
that affects the development and functioning of the lungs. As a result, affected
individuals are usually stillborn or die shortly after birth from respiratory
failure.
related-gene-list
194 Bosma arhinia microphthalmia syndrome https://ghr.nlm.nih.gov/condition/bosma-arhinia-microphthalmia-syndrome BAMS is a very rare condition with an unknown prevalence. Fewer than 100 html:p Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized ad autosomal dominant SMCHD1 https://ghr.nlm.nih.gov/gene/SMCHD1 arhinia choanal atresia microphthalmia db key 2017-07 2017-12-29
cases of the condition have been described in the medical literature. BAMS has by abnormalities of the nose and eyes and problems with puberty. arhinia, choanal atresia, and microphthalmia GTR C1863878
been found in several different populations. html:p The key feature of BAMS is arhinia, which is the absence of an external nose. arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism db key
While most people with BAMS are born without a nose, some affected individuals BAM syndrome MeSH D000015
have a severely underdeveloped (hypoplastic) nose. Affected individuals may also BAMS db key
be missing the brain structure involved in the sense of smell (olfactory bulb). Bosma syndrome OMIM 603457
Because of these abnormalities, people with BAMS have an impaired ability to Gifford-Bosma syndrome db key
smell and, consequently, to taste. Ruprecht Majewski syndrome Orphanet 1135
html:p In most people with BAMS, the eyeballs are abnormally small (microphthalmia) or db key
absent (anophthalmia), which causes severe vision impairment or blindness. SNOMED CT 720511000
Additional eye abnormalities common in BAMS include a gap or hole in one of
several structures of the eye (coloboma) and clouding of the lenses of the eyes
(cataracts).
html:p Additional head and face abnormalities that can occur in people with BAMS
include a high arch or opening in the roof of the mouth (high-arched or cleft
palate), absence of the sinuses behind the nose (paranasal sinuses), blockage of
the nasal passages (choanal atresia), narrowing of the tear ducts (nasolacrimal
duct stenosis), or a small upper jaw (hypoplastic maxilla). Many of these
abnormalities contribute to difficulty breathing, particularly in affected
babies. Some affected individuals have abnormal external ears.
html:p Individuals with BAMS also have hypogonadotropic hypogonadism, which is a
condition caused by reduced production of hormones that direct sexual
development. Without treatment, these hormone problems often result in delayed
puberty. Affected males may also have underdeveloped reproductive tissues and
undescended testes (cryptorchidism).
inheritance-pattern-list related-gene-list
195 Boucher-Neuhäuser syndrome https://ghr.nlm.nih.gov/condition/boucher-neuhauser-syndrome Boucher-Neuhäuser syndrome is a rare condition. Its prevalence is unknown. html:p Boucher-Neuhäuser syndrome is a rare disorder that affects movement, vision, and ar autosomal recessive PNPLA6 synonym db-key db key 2016-10 2017-12-29
sexual development. It is part of a continuous spectrum of neurological synonym GTR C1859093
html:i synonym db-key db key
PNPLA6 synonym GeneReviews pnpla6-dis
synonym db-key db key
MeSH D052439
html:p Ataxia describes difficulty with coordination and balance. In Boucher-Neuhäuser synonym db-key db key
syndrome, it arises from a loss of cells (atrophy) in the part of the brain OMIM 215470
involved in coordinating movements (the cerebellum). Affected individuals have db-key db key
an unsteady walking style (gait) and frequent falls. Orphanet 1180
html:p Another key feature of Boucher-Neuhäuser syndrome is hypogonadotropic db-key db key
hypogonadism, which is a condition affecting the production of hormones that SNOMED CT 715984007
direct sexual development. Affected individuals have a delay in development of
the typical signs of puberty, such as the growth of facial hair and deepening of
the voice in males, and the start of monthly periods (menstruation) and breast
development in females. Other hormone abnormalities lead to short stature in
some affected individuals.
html:p The third characteristic feature of Boucher-Neuhäuser syndrome is eye
abnormalities, most commonly chorioretinal dystrophy. Chorioretinal dystrophy
refers to problems with the light-sensitive tissue that lines the back of the
eye (the retina) and a nearby tissue layer called the choroid. These eye
abnormalities lead to impaired vision. People with Boucher-Neuhäuser syndrome
can also have abnormal eye movements, including involuntary side-to-side
movements of the eyes (nystagmus).
html:p The key features of Boucher-Neuhäuser syndrome can begin anytime from infancy to
adulthood, although at least one feature usually occurs by adolescence. Ataxia
is often the initial symptom of the disorder, but vision problems or delayed
puberty can be the earliest finding. Vision and movement problems worsen slowly
throughout life and can result in blindness or the need for a wheelchair for
mobility in the most severely affected individuals.
html:p People with Boucher-Neuhäuser syndrome can have additional medical problems,
including muscle stiffness (spasticity); impaired speech (dysarthria); and
difficulty processing, learning, or remembering information (cognitive
impairment).
related-gene-list
196 Bowen-Conradi syndrome https://ghr.nlm.nih.gov/condition/bowen-conradi-syndrome Bowen-Conradi syndrome is common in the Hutterite population in Canada and html:p Bowen-Conradi syndrome is a disorder that affects many parts of the body and is ar autosomal recessive EMG1 https://ghr.nlm.nih.gov/gene/EMG1 Bowen-Conradi Hutterite syndrome db key 2015-02 2017-12-29
the United States; it occurs in approximately 1 per 355 newborns in all three usually fatal in infancy. Affected individuals have a low birth weight, Bowen Hutterite syndrome GTR C1859405
Hutterite sects (leuts). A few individuals from outside the Hutterite community experience feeding problems, and grow very slowly. Their head is unusually small Bowen syndrome, Hutterite type db key
with signs and symptoms similar to Bowen-Conradi syndrome have been described in overall (microcephaly), but is longer than expected compared with its width BWCNS MeSH D000015
the medical literature. Researchers differ as to whether these individuals have (dolichocephaly). Characteristic facial features include a prominent, Hutterite syndrome db key
Bowen-Conradi syndrome or a similar but distinct disorder. high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected OMIM 211180
individuals typically have pinky fingers that are curved toward or away from the db key
ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), Orphanet 1270
feet with soles that are rounded outward (rocker-bottom feet), and restricted db key
joint movement. SNOMED CT 711153001
html:p Other features that occur in some affected individuals include seizures;
structural abnormalities of the kidneys, heart, brain, or other organs; and an
opening in the lip (cleft lip) with or without an opening in the roof of the
mouth (cleft palate). Affected males may have the opening of the urethra on the
underside of the penis (hypospadias) or undescended testes (cryptorchidism).
html:p Babies with Bowen-Conradi syndrome do not achieve developmental milestones such
as smiling or sitting, and they usually do not survive more than 6 months.
related-gene-list
197 Bradyopsia https://ghr.nlm.nih.gov/condition/bradyopsia Bradyopsia appears to be rare. Only a few affected individuals worldwide html:p Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is ar autosomal recessive RGS9 https://ghr.nlm.nih.gov/gene/RGS9 PERRS db key 2014-11 2017-12-29
运动视觉障碍 have been described in the medical literature. from the Greek words for slow vision. In affected individuals, the eyes adapt related-gene gene-symbol ghr-page prolonged electroretinal response suppression GTR C1842073
(Vision) more slowly than usual to changing light conditions. For example, people with RGS9BP https://ghr.nlm.nih.gov/gene/RGS9BP db key
this condition are blinded for several seconds when going from a dark MeSH D015785
environment into a bright one, such as when walking out of a darkened movie db key
theater into daylight. Their eyes also have trouble adapting from bright light OMIM 608415
to dark conditions, such as when driving into a dark tunnel on a sunny day. db key
html:p Some people with bradyopsia also have difficulty seeing some moving objects, Orphanet 75374
particularly small objects moving against a bright background. As a result, they db key
often have trouble watching or participating in sports with a ball, such as SNOMED CT 711163009
soccer or tennis. People with bradyopsia can have reduced sharpness (acuity) of
vision, although acuity may depend on the conditions under which vision is
tested. Visual acuity may appear to be severely affected if it is tested under
bright lights, but it can be near normal if tested in a dim environment. The
ability to see colors and distinguish between them is normal.
html:p The vision problems associated with bradyopsia become apparent in early
childhood. They are usually stable, which means they do not worsen over time.
related-gene-list
198 Brain-lung-thyroid syndrome https://ghr.nlm.nih.gov/condition/brain-lung-thyroid-syndrome Brain-lung-thyroid syndrome is a rare disorder; its prevalence is unknown. html:p Brain-lung-thyroid syndrome is a group of conditions that affect the brain, ad autosomal dominant NKX2-1 https://ghr.nlm.nih.gov/gene/NKX2-1 BLT syndrome db key 2017-01 2017-12-29
lungs, and thyroid gland (a butterfly-shaped gland in the lower neck). brain-thyroid-lung syndrome GTR C0393584
Brain-lung-thyroid syndrome historically included problems with all three CAHTP db key
organs, although the designation now encompasses a combination of brain, lung, choreoathetosis, hypothyroidism, and neonatal respiratory distress GTR C1970269
and thyroid problems. About 50 percent of affected individuals have problems chreoathetosis and congenital hypothyroidism with or without pulmonary db key
with all three organs, about 30 percent have brain and thyroid problems, and dysfunction GeneReviews nkx2-1-dis
about 10 percent have brain and lung problems. The brain alone is affected in 10 db key
to 20 percent of people with the condition. Such cases are sometimes called MeSH D002819
isolated benign hereditary chorea. db key
html:p Nearly everyone with brain-lung-thyroid syndrome has brain-related movement MeSH D003409
abnormalities. Benign hereditary chorea is the most common feature of the db key
syndrome. This feature is associated with involuntary jerking movements (chorea) MeSH D012127
of the face, torso, and limbs; writhing movements (athetosis) of the limbs; and db key
other movement problems. Individuals with brain-lung-thyroid syndrome can have OMIM 610978
other abnormalities, such as difficulty coordinating movements (ataxia), muscle db key
twitches (myoclonus), and involuntary muscle contractions that result in Orphanet 209905
twisting and repetitive movements (dystonia). The movement problems typically db key
begin around age 1, although they can begin in early infancy or later in life, SNOMED CT 719098007
and are often preceded by weak muscle tone (hypotonia). They can delay the
development of walking. The movement problems usually remain stable and can
improve over time. Some affected individuals also have learning difficulties or
intellectual disability.
html:p Thyroid problems are the next most common feature of brain-lung-thyroid
syndrome. The thyroid gland makes hormones that help regulate a wide variety of
critical body functions, including growth, brain development, and the rate of
chemical reactions in the body (metabolism). Many affected individuals have
reduced thyroid function from birth (congenital hypothyroidism), resulting in
lower-than-normal levels of thyroid hormones. Others have a milder condition
called compensated or subclinical hypothyroidism, in which thyroid hormone
levels are within the normal range, even though the thyroid is not functioning
properly. While most people with brain-lung-thyroid syndrome have a normal-sized
thyroid, the gland is reduced in size (hypoplastic) or absent (aplastic) in
some affected individuals. Although a shortage of thyroid hormones can cause
intellectual disability and other neurological problems, it is unclear whether
such issues in individuals with brain-lung-thyroid syndrome are due to
hypothyroidism or to the brain abnormalities related to the condition.
html:p Lung problems are common in brain-lung-thyroid syndrome. Some affected newborns
have respiratory distress syndrome, which causes extreme difficulty breathing
and can be life-threatening. Other affected individuals develop widespread lung
damage (interstitial lung disease) or scarring in the lungs (pulmonary
fibrosis), both of which can also lead to breathing problems. Recurrent lung
infections, which can be life-threatening, also occur in people with
brain-lung-thyroid syndrome. People with brain-lung-thyroid syndrome have a
higher risk of developing lung cancer than do people in the general population.
related-gene-list
199 Branchio-oculo-facial syndrome https://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome Branchio-oculo-facial syndrome is a rare condition, although the prevalence html:p Branchio-oculo-facial syndrome is a condition that affects development before ad autosomal dominant TFAP2A https://ghr.nlm.nih.gov/gene/TFAP2A BOFS db key 2012-09 2017-12-29
is unknown. birth, particularly of structures in the face and neck. Its characteristic branchial clefts with characteristic facies, growth retardation, imperforate GTR C0376524
features include skin anomalies on the neck, malformations of the eyes and ears, nasolacrimal duct, and premature aging db key
and distinctive facial features. hemangiomatous branchial clefts-lip pseudocleft syndrome GeneReviews bofs
html:p "Branchio-" refers to the branchial arches, which are structures in the lip pseudocleft-hemagiomatous branchial cyst syndrome db key
developing embryo that give rise to tissues in the face and neck. In people with MeSH D019465
branchio-oculo-facial syndrome, the first and second branchial arches do not db key
develop properly, leading to abnormal patches of skin, typically on the neck or OMIM 113620
near the ears. These patches can be unusually thin, hairy, or red and densely db key
packed with blood vessels (hemangiomatous). In a small number of individuals, Orphanet 1297
tissue from a gland called the thymus is abnormally located on the skin of the db key
neck (dermal thymus). Problems with branchial arch development underlie many of SNOMED CT 449821007
the other features of branchio-oculo-facial syndrome.
html:p "Oculo-" refers to the eyes. Many people with branchio-oculo-facial syndrome
have malformations of the eyes that can lead to vision impairment. These
abnormalities include unusually small eyeballs (microphthalmia), no eyeballs
(anophthalmia), a gap or split in structures that make up the eyes (coloboma),
or blockage of the tear ducts (nasolacrimal duct stenosis).
html:p Problems with development of the face lead to distinctive facial features in
people with branchio-oculo-facial syndrome. Many affected individuals have a
split in the upper lip (cleft lip) or a pointed upper lip that resembles a
poorly repaired cleft lip (often called a pseudocleft lip) with or without an
opening in the roof of the mouth (cleft palate). Other facial characteristics
include widely spaced eyes (hypertelorism), an increased distance between the
inner corners of the eyes (telecanthus), outside corners of the eyes that point
upward (upslanting palpebral fissures), a broad nose with a flattened tip, and
weakness of the muscles in the lower face. The ears are also commonly affected,
resulting in malformed or prominent ears. Abnormalities of the inner ear or of
the tiny bones in the ears (ossicles) can cause hearing loss in people with this
condition.
html:p Branchio-oculo-facial syndrome can affect other structures and tissues as well.
Some affected individuals have kidney abnormalities, such as malformed kidneys
or multiple kidney cysts. Nail and teeth abnormalities also occur, and some
people with this condition have prematurely graying hair.
related-gene-list
200 Branchiootorenal/branchiootic syndrome https://ghr.nlm.nih.gov/condition/branchiootorenal-branchiootic-syndrome Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people. html:p Branchiootorenal (BOR) syndrome is a condition that disrupts the development of ad autosomal dominant EYA1 https://ghr.nlm.nih.gov/gene/EYA1 BO syndrome db key 2016-03 2017-12-29
BOR (Melnick- Fraser syndrome) tissues in the neck and causes malformations of the ears and kidneys. The signs related-gene gene-symbol ghr-page BOR GTR C0265234
Branchio-Oto-Renal症候群 and symptoms of this condition vary widely, even among members of the same SIX1 https://ghr.nlm.nih.gov/gene/SIX1 BOR syndrome db key
family. Branchiootic (BO) syndrome includes many of the same features as BOR related-gene gene-symbol ghr-page BOS GTR C1842124
syndrome, but affected individuals do not have kidney abnormalities. The two SIX5 https://ghr.nlm.nih.gov/gene/SIX5 branchio-oto-renal syndrome db key
conditions are otherwise so similar that researchers often consider them branchio-otorenal dysplasia GTR C1852718
together (BOR/BO syndrome or branchiootorenal spectrum disorders). branchio-otorenal syndrome db key
html:p "Branchio-" refers to the second branchial arch, which is a structure in the branchiootic syndrome GTR C1865143
developing embryo that gives rise to tissues in the front and side of the neck. branchiootorenal dysplasia db key
In people with BOR/BO syndrome, abnormal development of the second branchial branchiootorenal spectrum disorders GTR C1970479
arch can result in the formation of masses in the neck called branchial cleft branchiootorenal syndrome db key
cysts. Some affected people have abnormal holes or pits called fistulae in the Melnick-Fraser syndrome GeneReviews bor
side of the neck just above the collarbone. Fistulae can form tunnels into the db key
neck, exiting in the mouth near the tonsil. Branchial cleft cysts and fistulae MeSH D019280
can cause health problems if they become infected, so they are often removed db key
surgically. OMIM 113650
html:p "Oto-" and "-otic" refer to the ear; most people with BOR/BO syndrome have db key
hearing loss and other ear abnormalities. The hearing loss can be sensorineural, OMIM 120502
meaning it is caused by abnormalities in the inner ear; conductive, meaning it db key
results from changes in the small bones in the middle ear; or mixed, meaning it OMIM 602588
is caused by a combination of inner ear and middle ear abnormalities. Some db key
affected people have tiny holes in the skin or extra bits of tissue just in OMIM 608389
front of the ear. These are called preauricular pits and preauricular tags, db key
respectively. OMIM 610896
html:p "Renal" refers to the kidneys; BOR syndrome (but not BO syndrome) causes db key
abnormalities of kidney structure and function. These abnormalities range from Orphanet 107
mild to severe and can affect one or both kidneys. In some cases, end-stage db key
renal disease (ESRD) develops later in life. This serious condition occurs when Orphanet 52429
the kidneys become unable to filter fluids and waste products from the body db key
effectively. SNOMED CT 290006
related-gene-list
201 Breast cancer https://ghr.nlm.nih.gov/condition/breast-cancer Breast cancer is the second most commonly diagnosed cancer in women. (Only html:p Breast cancer is a disease in which certain cells in the breast become abnormal ad autosomal dominant ATM https://ghr.nlm.nih.gov/gene/ATM breast cancer, familial db key 2015-05 2017-12-29
(Cancer) skin cancer is more common.) About one in eight women in the United States will and multiply uncontrollably to form a tumor. Although breast cancer is much more code memo related-gene gene-symbol ghr-page breast carcinoma GTR C0346153
develop invasive breast cancer in her lifetime. Researchers estimate that more common in women, this form of cancer can also develop in men. In both women n not inherited BARD1 https://ghr.nlm.nih.gov/gene/BARD1 cancer of breast db key
than 230,000 new cases of invasive breast cancer will be diagnosed in U.S. women and men, the most common form of breast cancer begins in cells lining the milk code memo related-gene gene-symbol ghr-page malignant neoplasm of breast GTR C1861906
in 2015.Male breast cancer represents less than 1 percent of all breast cancer ducts (ductal cancer). In women, cancer can also develop in the glands that u pattern unknown BRCA1 https://ghr.nlm.nih.gov/gene/BRCA1 malignant tumor of breast db key
diagnoses. Scientists estimate that about 2,300 new cases of breast cancer will produce milk (lobular cancer). Most men have little or no lobular tissue, so related-gene gene-symbol ghr-page mammary cancer GTR CN068448
be diagnosed in men in 2015.Particular gene mutations associated with breast lobular cancer in men is very rare. BRCA2 https://ghr.nlm.nih.gov/gene/BRCA2 db key
cancer are more common among certain geographic or ethnic groups, such as people html:p In its early stages, breast cancer usually does not cause pain and may exhibit related-gene gene-symbol ghr-page GeneReviews brca1
of Ashkenazi (central or eastern European) Jewish heritage and people of no noticeable symptoms. As the cancer progresses, signs and symptoms can include BRIP1 https://ghr.nlm.nih.gov/gene/BRIP1 db key
Norwegian, Icelandic, or Dutch ancestry. a lump or thickening in or near the breast; a change in the size or shape of related-gene gene-symbol ghr-page GeneReviews hgc
the breast; nipple discharge, tenderness, or retraction (turning inward); and CASP8 https://ghr.nlm.nih.gov/gene/CASP8 db key
skin irritation, dimpling, or scaliness. However, these changes can occur as related-gene gene-symbol ghr-page GeneReviews li-fraumeni
part of many different conditions. Having one or more of these symptoms does not CDH1 https://ghr.nlm.nih.gov/gene/CDH1 db key
mean that a person definitely has breast cancer. related-gene gene-symbol ghr-page GeneReviews phts
html:p In some cases, cancerous tumors can invade surrounding tissue and spread to CHEK2 https://ghr.nlm.nih.gov/gene/CHEK2 db key
other parts of the body. If breast cancer spreads, cancerous cells most often related-gene gene-symbol ghr-page GeneReviews pjs
appear in the bones, liver, lungs, or brain. Tumors that begin at one site and CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 db key
then spread to other areas of the body are called metastatic cancers. related-gene gene-symbol ghr-page ICD-10-CM C50.01
html:p A small percentage of all breast cancers cluster in families. These cancers are CYP19A1 https://ghr.nlm.nih.gov/gene/CYP19A1 db key
described as hereditary and are associated with inherited gene mutations. related-gene gene-symbol ghr-page ICD-10-CM C50.02
Hereditary breast cancers tend to develop earlier in life than noninherited FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 db key
(sporadic) cases, and new (primary) tumors are more likely to develop in both related-gene gene-symbol ghr-page ICD-10-CM C50.011
breasts. H19 https://ghr.nlm.nih.gov/gene/H19 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.11
LSP1 https://ghr.nlm.nih.gov/gene/LSP1 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.012
MAP3K1 https://ghr.nlm.nih.gov/gene/MAP3K1 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.019
MRE11 https://ghr.nlm.nih.gov/gene/MRE11 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.021
NBN https://ghr.nlm.nih.gov/gene/NBN db key
related-gene gene-symbol ghr-page ICD-10-CM C50.21
PALB2 https://ghr.nlm.nih.gov/gene/PALB2 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.022
PTEN https://ghr.nlm.nih.gov/gene/PTEN db key
related-gene gene-symbol ghr-page ICD-10-CM C50.22
RAD51 https://ghr.nlm.nih.gov/gene/RAD51 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.029
RAD51C https://ghr.nlm.nih.gov/gene/RAD51C db key
related-gene gene-symbol ghr-page ICD-10-CM C50.31
STK11 https://ghr.nlm.nih.gov/gene/STK11 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.32
TERT https://ghr.nlm.nih.gov/gene/TERT db key
related-gene gene-symbol ghr-page ICD-10-CM C50.41
TOX3 https://ghr.nlm.nih.gov/gene/TOX3 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.42
TP53 https://ghr.nlm.nih.gov/gene/TP53 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.51
XRCC2 https://ghr.nlm.nih.gov/gene/XRCC2 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.52
XRCC3 https://ghr.nlm.nih.gov/gene/XRCC3 db key
ICD-10-CM C50.61
db key
ICD-10-CM C50.62
db key
ICD-10-CM C50.81
db key
ICD-10-CM C50.82
db key
ICD-10-CM C50.91
db key
ICD-10-CM C50.92
db key
ICD-10-CM C50.111
db key
ICD-10-CM C50.112
db key
ICD-10-CM C50.119
db key
ICD-10-CM C50.211
db key
ICD-10-CM C50.212
db key
ICD-10-CM C50.219
db key
ICD-10-CM C50.221
db key
ICD-10-CM C50.222
db key
ICD-10-CM C50.229
db key
ICD-10-CM C50.311
db key
ICD-10-CM C50.312
db key
ICD-10-CM C50.319
db key
ICD-10-CM C50.321
db key
ICD-10-CM C50.322
db key
ICD-10-CM C50.329
db key
ICD-10-CM C50.411
db key
ICD-10-CM C50.412
db key
ICD-10-CM C50.419
db key
ICD-10-CM C50.421
db key
ICD-10-CM C50.422
db key
ICD-10-CM C50.429
db key
ICD-10-CM C50.511
db key
ICD-10-CM C50.512
db key
ICD-10-CM C50.519
db key
ICD-10-CM C50.521
db key
ICD-10-CM C50.522
db key
ICD-10-CM C50.529
db key
ICD-10-CM C50.611
db key
ICD-10-CM C50.612
db key
ICD-10-CM C50.619
db key
ICD-10-CM C50.621
db key
ICD-10-CM C50.622
db key
ICD-10-CM C50.629
db key
ICD-10-CM C50.811
db key
ICD-10-CM C50.812
db key
ICD-10-CM C50.819
db key
ICD-10-CM C50.821
db key
ICD-10-CM C50.822
db key
ICD-10-CM C50.829
db key
ICD-10-CM C50.911
db key
ICD-10-CM C50.912
db key
ICD-10-CM C50.919
db key
ICD-10-CM C50.921
db key
ICD-10-CM C50.922
db key
ICD-10-CM C50.929
db key
ICD-10-CM D05.0
db key
ICD-10-CM D05.00
db key
ICD-10-CM D05.01
db key
ICD-10-CM D05.1
db key
ICD-10-CM D05.02
db key
ICD-10-CM D05.9
db key
ICD-10-CM D05.10
db key
ICD-10-CM D05.11
db key
ICD-10-CM D05.12
db key
ICD-10-CM D05.90
db key
ICD-10-CM D05.91
db key
ICD-10-CM D05.92
db key
ICD-10-CM Z15.01
db key
ICD-10-CM Z80.3
db key
MeSH D001943
db key
OMIM 114480
db key
OMIM 604370
db key
OMIM 612555
db key
Orphanet 227535
db key
SNOMED CT 126926005
db key
SNOMED CT 254837009
db key
SNOMED CT 254838004
db key
related-gene-list SNOMED CT 254843006
202 Brody myopathy https://ghr.nlm.nih.gov/condition/brody-myopathy Brody myopathy is a rare condition, although its exact prevalence is html:p Brody myopathy is a condition that affects the skeletal muscles, which are the ad autosomal dominant ATP2A1 https://ghr.nlm.nih.gov/gene/ATP2A1 Brody disease db key 2012-01 2017-12-29
Brody 肌肉病變 unknown. muscles used for movement. Affected individuals experience muscle cramping and code memo GTR C1832918
stiffening after exercise or other strenuous activity, especially in cold ar autosomal recessive db key
temperatures. These symptoms typically begin in childhood. They are usually MeSH D009135
painless, but in some cases can cause mild discomfort. The muscles usually relax db key
after a few minutes of rest. Most commonly affected are the muscles of the OMIM 601003
arms, legs, and face (particularly the eyelids). db key
html:p In some people with Brody myopathy, exercise leads to the breakdown of muscle SNOMED CT 703530005
tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein
called myoglobin, which is processed by the kidneys and released in the urine
(myoglobinuria). Myoglobin causes the urine to be red or brown.
related-gene-list
203 Brooke-Spiegler syndrome https://ghr.nlm.nih.gov/condition/brooke-spiegler-syndrome Brooke-Spiegler syndrome is a rare disorder; its prevalence is unknown. html:p Brooke-Spiegler syndrome is a condition involving multiple skin tumors that ad autosomal dominant CYLD https://ghr.nlm.nih.gov/gene/CYLD BRSS db key 2012-06 2017-12-29
Brooke-Spiegler综合症 develop from structures associated with the skin (skin appendages), such as BSS GTR C1857941
sweat glands and hair follicles. People with Brooke-Spiegler syndrome may Spiegler-Brooke syndrome db key
develop several types of tumors, including growths called spiradenomas, MeSH D012878
trichoepitheliomas, and cylindromas. Spiradenomas develop in sweat glands. db key
Trichoepitheliomas arise from hair follicles. The origin of cylindromas has been OMIM 605041
unclear; while previously thought to derive from sweat glands, they are now db key
generally believed to begin in hair follicles. The tumors associated with SNOMED CT 703531009
Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally
they may become cancerous (malignant). Affected individuals are also at
increased risk of developing tumors in tissues other than skin appendages,
particularly benign or malignant tumors of the salivary glands.
html:p People with Brooke-Spiegler syndrome typically begin developing tumors in early
adulthood. The tumors are most often found on the head and neck. They grow
larger and increase in number over time. In severe cases, the tumors may get in
the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other
functions. The tumors can be disfiguring and may contribute to depression or
other psychological problems. For reasons that are unclear, females with
Brooke-Spiegler syndrome are often more severely affected than males.
related-gene-list
203 Brugada syndrome https://ghr.nlm.nih.gov/condition/brugada-syndrome The exact prevalence of Brugada syndrome is unknown, although it is html:p Brugada syndrome is a condition that causes a disruption of the heart's normal ad autosomal dominant CACNA1C https://ghr.nlm.nih.gov/gene/CACNA1C bangungut db key 2015-03 2017-12-29
布魯蓋達氏症候群 estimated to affect 5 in 10,000 people worldwide. This condition occurs much rhythm. Specifically, this disorder can lead to irregular heartbeats in the related-gene gene-symbol ghr-page idiopathic ventricular fibrillation, Brugada type GTR C1142166
(Heart) more frequently in people of Asian ancestry, particularly in Japanese and heart's lower chambers (ventricles), which is an abnormality called ventricular CACNA2D1 https://ghr.nlm.nih.gov/gene/CACNA2D1 Pokkuri death syndrome db key
Southeast Asian populations.Although Brugada syndrome affects both men and arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), related-gene gene-symbol ghr-page sudden unexpected nocturnal death syndrome GTR CN029323
women, the condition appears to be 8 to 10 times more common in men. seizures, difficulty breathing, or sudden death. These complications typically CACNB2 https://ghr.nlm.nih.gov/gene/CACNB2 sudden unexplained death syndrome db key
Researchers suspect that testosterone, a sex hormone present at much higher occur when an affected person is resting or asleep. related-gene gene-symbol ghr-page SUDS GeneReviews brugada
levels in men, may account for this difference. html:p Brugada syndrome usually becomes apparent in adulthood, although it can develop GPD1L https://ghr.nlm.nih.gov/gene/GPD1L SUNDS db key
any time throughout life. Signs and symptoms related to arrhythmias, including related-gene gene-symbol ghr-page MeSH D053840
sudden death, can occur from early infancy to late adulthood. Sudden death HCN4 https://ghr.nlm.nih.gov/gene/HCN4 db key
typically occurs around age 40. This condition may explain some cases of sudden related-gene gene-symbol ghr-page OMIM 601144
infant death syndrome (SIDS), which is a major cause of death in babies younger KCND3 https://ghr.nlm.nih.gov/gene/KCND3 db key
than 1 year. SIDS is characterized by sudden and unexplained death, usually related-gene gene-symbol ghr-page Orphanet 130
during sleep. KCNE3 https://ghr.nlm.nih.gov/gene/KCNE3 db key
html:p Sudden unexplained nocturnal death syndrome (SUNDS) is a condition characterized related-gene gene-symbol ghr-page SNOMED CT 418818005
by unexpected cardiac arrest in young adults, usually at night during sleep. KCNE5 https://ghr.nlm.nih.gov/gene/KCNE5
This condition was originally described in Southeast Asian populations, where it related-gene gene-symbol ghr-page
is a major cause of death. Researchers have determined that SUNDS and Brugada KCNJ8 https://ghr.nlm.nih.gov/gene/KCNJ8
syndrome are the same disorder. related-gene gene-symbol ghr-page
RANGRF https://ghr.nlm.nih.gov/gene/RANGRF
related-gene gene-symbol ghr-page
SCN1B https://ghr.nlm.nih.gov/gene/SCN1B
related-gene gene-symbol ghr-page
SCN2B https://ghr.nlm.nih.gov/gene/SCN2B
related-gene gene-symbol ghr-page
SCN3B https://ghr.nlm.nih.gov/gene/SCN3B
related-gene gene-symbol ghr-page
SCN5A https://ghr.nlm.nih.gov/gene/SCN5A
related-gene gene-symbol ghr-page
SLMAP https://ghr.nlm.nih.gov/gene/SLMAP
related-gene gene-symbol ghr-page
TRPM4 https://ghr.nlm.nih.gov/gene/TRPM4
Bruton's agammaglobulinemia disease
布魯頓式低免疫球蛋白血症
related-gene-list
205 Burn-McKeown syndrome https://ghr.nlm.nih.gov/condition/burn-mckeown-syndrome Burn-McKeown syndrome is a rare disorder; its prevalence is unknown. Only a html:p Burn-McKeown syndrome is a disorder that is present from birth (congenital) and ar autosomal recessive TXNL4A https://ghr.nlm.nih.gov/gene/TXNL4A bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance db key 2016-08 2017-12-29
small number of affected individuals have been described in the medical involves abnormalities of the nasal passages, characteristic facial features, BMKS GTR C1837822
literature. hearing loss, heart abnormalities, and short stature. choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome db key
html:p In people with Burn-McKeown syndrome, both nasal passages are usually narrowed oculo-oto-facial dysplasia GeneReviews burn-mckeown
(bilateral choanal stenosis) or completely blocked (bilateral choanal atresia), oculootofacial dysplasia db key
which can cause life-threatening breathing problems in infancy without surgical OOFD MeSH D002754
repair. Typical facial features include narrow openings of the eyelids (short db key
palpebral fissures); a gap (coloboma) in the lower eyelids; widely spaced eyes MeSH D003638
(hypertelorism); a prominent bridge of the nose; a short space between the nose db key
and the upper lip (philtrum); a small opening of the mouth (microstomia); and MeSH D006330
large, protruding ears. db key
html:p Some people with Burn-McKeown syndrome have congenital hearing loss in both ears MeSH D019066
which varies in severity among affected individuals. The hearing loss is db key
described as mixed, which means that it is caused by both changes in the inner OMIM 608572
ear (sensorineural hearing loss) and changes in the middle ear (conductive db key
hearing loss). Orphanet 1200
html:p Other features that can occur in Burn-McKeown syndrome include mild short db key
stature and congenital heart defects such as patent ductus arteriosus (PDA). The SNOMED CT 720640005
ductus arteriosus is a connection between two major arteries, the aorta and the
pulmonary artery. This connection is open during fetal development and normally
closes shortly after birth. However, the ductus arteriosus remains open, or
patent, in babies with PDA. If untreated, this heart defect causes infants to
breathe rapidly, feed poorly, and gain weight slowly; in severe cases, it can
lead to heart failure. Intelligence is unaffected in Burn-McKeown syndrome.
related-gene-list
206 Buschke-Ollendorff syndrome https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome Buschke-Ollendorff syndrome has an estimated incidence of 1 in 20,000 html:p Buschke-Ollendorff syndrome is a hereditary disorder of connective tissues, ad autosomal dominant LEMD3 https://ghr.nlm.nih.gov/gene/LEMD3 dermatofibrosis disseminata lenticularis db key 2013-10 2017-12-29
people worldwide. which are tissues that provide strength and flexibility to structures throughout dermatofibrosis lenticularis disseminata GTR C0265514
the body. Specifically, the condition is characterized by skin growths called dermatofibrosis lenticularis disseminata with osteopoikilosis db key
connective tissue nevi and a bone abnormality known as osteopoikilosis. dermatofibrosis, disseminated, with osteopoikilosis MeSH D010023
html:p Connective tissue nevi are small, noncancerous lumps on the skin. They tend to dermatoosteopoikilosis db key
appear in childhood and are widespread in people with Buschke-Ollendorff osteopathia condensans disseminata OMIM 166700
syndrome. The most common form of these nevi are elastomas, which are made up of db key
a type of stretchy connective tissue called elastic fibers. Less commonly, Orphanet 1306
affected individuals have nevi called collagenomas, which are made up of another db key
type of connective tissue called collagen. SNOMED CT 60399005
html:p Osteopoikilosis, which is from the Greek words for "spotted bones," is a db key
skeletal abnormality characterized by small, round areas of increased bone SNOMED CT 9147009
density that appear as brighter spots on x-rays. Osteopoikilosis usually occurs
near the ends of the long bones of the arms and legs, and in the bones of the
hands, feet, and pelvis. The areas of increased bone density appear during
childhood. They do not cause pain or other health problems.
related-gene-list
C3 glomerulopathy https://ghr.nlm.nih.gov/condition/c3-glomerulopathy C3 glomerulopathy is very rare, affecting 1 to 2 per million people html:p C3 glomerulopathy is a group of related conditions that cause the kidneys to ar autosomal recessive ADAM19 https://ghr.nlm.nih.gov/gene/ADAM19 C3 glomerulonephritis db key 2015-12 2017-12-29
C3肾小球病 worldwide. It is equally common in men and women. malfunction. The major features of C3 glomerulopathy include high levels of related-gene gene-symbol ghr-page C3G GTR C0268743
(Kidney) protein in the urine (proteinuria), blood in the urine (hematuria), reduced C3 https://ghr.nlm.nih.gov/gene/C3 DDD db key
amounts of urine, low levels of protein in the blood, and swelling in many areas related-gene gene-symbol ghr-page DDD/MPGNII GTR C0398777
of the body. Affected individuals may have particularly low levels of a protein C3AR1 https://ghr.nlm.nih.gov/gene/C3AR1 dense deposit disease db key
called complement component 3 (or C3) in the blood. related-gene gene-symbol ghr-page membranoproliferative glomerulonephritis type II GTR C3553720
html:p The kidney problems associated with C3 glomerulopathy tend to worsen over time. C8A https://ghr.nlm.nih.gov/gene/C8A db key
About half of affected individuals develop end-stage renal disease (ESRD) within related-gene gene-symbol ghr-page GTR CN120381
10 years after their diagnosis. ESRD is a life-threatening condition that CD46 https://ghr.nlm.nih.gov/gene/CD46 db key
prevents the kidneys from filtering fluids and waste products from the body related-gene gene-symbol ghr-page GTR CN187045
effectively. CFB https://ghr.nlm.nih.gov/gene/CFB db key
html:p Researchers have identified two major forms of C3 glomerulopathy: dense deposit related-gene gene-symbol ghr-page GeneReviews mpgn
disease and C3 glomerulonephritis. Although the two disorders cause similar CFD https://ghr.nlm.nih.gov/gene/CFD db key
kidney problems, the features of dense deposit disease tend to appear earlier related-gene gene-symbol ghr-page ICD-10-CM N00.6
than those of C3 glomerulonephritis, usually in adolescence. However, the signs CFH https://ghr.nlm.nih.gov/gene/CFH db key
and symptoms of either disease may not begin until adulthood. related-gene gene-symbol ghr-page ICD-10-CM N01.6
html:p One of the two forms of C3 glomerulopathy, dense deposit disease, can also be CFHR1 https://ghr.nlm.nih.gov/gene/CFHR1 db key
associated with other conditions unrelated to kidney function. For example, related-gene gene-symbol ghr-page ICD-10-CM N02.6
people with dense deposit disease may have acquired partial lipodystrophy, a CFHR2 https://ghr.nlm.nih.gov/gene/CFHR2 db key
condition characterized by a lack of fatty (adipose) tissue under the skin in related-gene gene-symbol ghr-page ICD-10-CM N03.6
the upper part of the body. Additionally, some people with dense deposit disease CFHR3 https://ghr.nlm.nih.gov/gene/CFHR3 db key
develop a buildup of yellowish deposits called drusen in the light-sensitive related-gene gene-symbol ghr-page ICD-10-CM N04.6
tissue at the back of the eye (the retina). These deposits usually appear in CFHR5 https://ghr.nlm.nih.gov/gene/CFHR5 db key
childhood or adolescence and can cause vision problems later in life. related-gene gene-symbol ghr-page ICD-10-CM N05.6
CFI https://ghr.nlm.nih.gov/gene/CFI db key
related-gene gene-symbol ghr-page ICD-10-CM N06.6
CR1 https://ghr.nlm.nih.gov/gene/CR1 db key
ICD-10-CM N07.6
db key
MeSH D015432
db key
OMIM 609814
db key
OMIM 614809
db key
Orphanet 329931
db key
Orphanet 93571
db key
SNOMED CT 197599000
db key
related-gene-list SNOMED CT 59479006
Caffey disease https://ghr.nlm.nih.gov/condition/caffey-disease Caffey disease has been estimated to occur in approximately 3 per 1,000 html:p Caffey disease, also called infantile cortical hyperostosis, is a bone disorder ad autosomal dominant COL1A1 https://ghr.nlm.nih.gov/gene/COL1A1 Caffey-Silverman syndrome db key 2013-04 2017-12-29
Caffey 症候群 infants worldwide. A few hundred cases have been described in the medical that most often occurs in babies. Excessive new bone formation (hyperostosis) is de Toni-Caffey disease GTR C0020497
(Bone) literature. Researchers believe this condition is probably underdiagnosed characteristic of Caffey disease. The bone abnormalities mainly affect the infantile cortical hyperostosis db key
because it usually goes away by itself in early childhood. jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts GeneReviews caffey
(diaphyses) of long bones in the arms and legs. Affected bones may double or db key
triple in width, which can be seen by x-ray imaging. In some cases two bones MeSH D006958
that are next to each other, such as two ribs or the pairs of long bones in the db key
forearms (radius and ulna) or lower legs (tibia and fibula) become fused OMIM 114000
together. Babies with Caffey disease also have swelling of joints and of soft db key
tissues such as muscles, with pain and redness in the affected areas. Affected Orphanet 1310
infants can also be feverish and irritable. db key
html:p The signs and symptoms of Caffey disease are usually apparent by the time an SNOMED CT 24752008
infant is 5 months old. In rare cases, skeletal abnormalities can be detected by
ultrasound imaging during the last few weeks of development before birth.
Lethal prenatal cortical hyperostosis, a more severe disorder that appears
earlier in development and is often fatal before or shortly after birth, is
sometimes called lethal prenatal Caffey disease; however, it is generally
considered to be a separate disorder.
html:p For unknown reasons, the swelling and pain associated with Caffey disease
typically go away within a few months. Through a normal process called bone
remodeling, which replaces old bone tissue with new bone, the excess bone is
usually reabsorbed by the body and undetectable on x-ray images by the age of 2.
However, if two adjacent bones have fused, they may remain that way, possibly
resulting in complications. For example, fused rib bones can lead to curvature
of the spine (scoliosis) or limit expansion of the chest, resulting in breathing
problems.
html:p Most people with Caffey disease have no further problems related to the disorder
after early childhood. Occasionally, another episode of hyperostosis occurs
years later. In addition, some adults who had Caffey disease in infancy have
other abnormalities of the bones and connective tissues, which provide strength
and flexibility to structures throughout the body. Affected adults may have
loose joints (joint laxity), stretchy (hyperextensible) skin, or be prone to
protrusion of organs through gaps in muscles (hernias).
related-gene-list
Campomelic dysplasia https://ghr.nlm.nih.gov/condition/campomelic-dysplasia The prevalence of campomelic dysplasia is uncertain; estimates range from 1 html:p Campomelic dysplasia is a severe disorder that affects development of the ad autosomal dominant SOX9 https://ghr.nlm.nih.gov/gene/SOX9 campomelic dwarfism db key 2014-06 2017-12-29
短指發育不良 in 40,000 to 200,000 people. skeleton, reproductive system, and other parts of the body. This condition is campomelic syndrome GTR C1861922
often life-threatening in the newborn period. camptomelic dysplasia db key
html:p The term "campomelic" comes from the Greek words for "bent limb." Affected GeneReviews campo-dysp
individuals are typically born with bowing of the long bones in the legs, and db key
occasionally, bowing in the arms. Bowing can cause characteristic skin dimples MeSH D055036
to form over the curved bone, especially on the lower legs. People with db key
campomelic dysplasia usually have short legs, dislocated hips, underdeveloped OMIM 114290
shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, db key
and inward- and upward-turning feet (clubfeet). These skeletal abnormalities Orphanet 140
begin developing before birth and can often be seen on ultrasound. When affected db key
individuals have features of this disorder but do not have bowed limbs, they SNOMED CT 74928006
are said to have acampomelic campomelic dysplasia.
html:p Many people with campomelic dysplasia have external genitalia that do not look
clearly male or clearly female (ambiguous genitalia). Approximately 75 percent
of affected individuals with a typical male chromosome pattern (46,XY) have
ambiguous genitalia or normal female genitalia. Internal reproductive organs may
not correspond with the external genitalia; the internal organs can be male
(testes), female (ovaries), or a combination of the two. For example, an
individual with female external genitalia may have testes or a combination of
testes and ovaries.
html:p Affected individuals have distinctive facial features, including a small chin,
prominent eyes, and a flat face. They also have a large head compared to their
body size. A particular group of physical features, called Pierre Robin
sequence, is common in people with campomelic dysplasia. Pierre Robin sequence
includes an opening in the roof of the mouth (a cleft palate), a tongue that is
placed further back than normal (glossoptosis), and a small lower jaw
(micrognathia). People with campomelic dysplasia are often born with weakened
cartilage that forms the upper respiratory tract. This abnormality, called
laryngotracheomalacia, partially blocks the airway and causes difficulty
breathing. Laryngotracheomalacia contributes to the poor survival of infants
with campomelic dysplasia.
html:p Only a few people with campomelic dysplasia survive past infancy. As these
individuals age, they may develop an abnormal curvature of the spine (scoliosis)
and other spine abnormalities that compress the spinal cord. People with
campomelic dysplasia may also have short stature and hearing loss.
related-gene-list
Camurati-Engelmann disease https://ghr.nlm.nih.gov/condition/camurati-engelmann-disease The prevalence of Camurati-Engelmann disease is unknown. More than 300 html:p Camurati-Engelmann disease is a skeletal condition that is characterized by ad autosomal dominant TGFB1 https://ghr.nlm.nih.gov/gene/TGFB1 Camurati-Engelmann syndrome db key 2017-11 2017-12-29
卡-恩二氏病 cases have been reported worldwide. abnormally thick bones (hyperostosis) in the arms, legs, and skull. CED GTR C0011989
坎-恩二氏病 html:p The thick limb bones can lead to bone pain and muscle weakness in the arms and diaphyseal dysplasia db key
(Bone) legs and cause individuals with Camurati-Engelmann disease to tire quickly. Bone diaphyseal hyperostosis GeneReviews ced
pain ranges from mild to severe and can increase with stress, activity, or cold diaphyseal osteosclerosis db key
weather. Leg weakness can make it difficult to stand up from a seated position Engelmann disease ICD-10-CM Q78.3
and some affected individuals develop a waddling or unsteady walk. Additional PDD db key
limb abnormalities include joint deformities (contractures), knock knees (a progressive diaphyseal dysplasia MeSH D003966
condition in which the lower legs are positioned at an outward angle), and flat db key
feet (pes planus). Swelling and redness (erythema) of the limbs and an abnormal OMIM 131300
curvature of the spine can also occur. db key
html:p Individuals with Camurati-Engelmann disease may have an unusually thick skull, OMIM 606631
which can lead to an abnormally large head (macrocephaly) and lower jaw db key
(mandible), a prominent forehead (frontal bossing), and bulging eyes with Orphanet 1328
shallow eye sockets (ocular proptosis). These changes to the head and face db key
become more prominent with age and are most noticeable in affected adults. In SNOMED CT 34643004
about a quarter of individuals with Camurati-Engelmann disease, the thickened
skull increases pressure on the brain or compresses the spinal cord, which can
cause a variety of neurological problems, including headaches, hearing loss,
vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial
paralysis.
html:p The degree of hyperostosis varies among individuals with Camurati-Engelmann
disease as does the age at which they experience their first symptoms.
html:p Other, rare features of Camurati-Engelmann disease include abnormally long limbs
in proportion to height, a decrease in muscle mass and body fat, delayed
teething (dentition), frequent cavities, delayed puberty, a shortage of red
blood cells (anemia), an enlarged liver and spleen (hepatosplenomegaly),
thinning of the skin, and excessively sweaty (hyperhidrotic) hands and feet.
related-gene-list
Canavan disease https://ghr.nlm.nih.gov/condition/canavan-disease While this condition occurs in people of all ethnic backgrounds, it is most html:p Canavan disease is a rare inherited disorder that damages the ability of nerve ar autosomal recessive ASPA https://ghr.nlm.nih.gov/gene/ASPA ACY2 deficiency db key 2015-04 2017-12-29
(Development) common in people of Ashkenazi (eastern and central European) Jewish heritage. cells (neurons) in the brain to send and receive messages. This disease is one aminoacylase 2 deficiency GTR C0206307
Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the of a group of genetic disorders called leukodystrophies. Leukodystrophies Aspa deficiency db key
Ashkenazi Jewish population. The incidence in other populations is unknown. disrupt the growth or maintenance of the myelin sheath, which is the covering aspartoacylase deficiency GTR CN068568
that protects nerves and promotes the efficient transmission of nerve impulses. Canavan's disease db key
html:p Neonatal/infantile Canavan disease is the most common and most severe form of GeneReviews canavan
the condition. Affected infants appear normal for the first few months of life, db key
but by age 3 to 5 months, problems with development become noticeable. These ICD-10-CM E75.29
infants usually do not develop motor skills such as turning over, controlling db key
head movement, and sitting without support. Other common features of this MeSH D017825
condition include weak muscle tone (hypotonia), an unusually large head size db key
(macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, OMIM 271900
and sleep disturbances may also develop. db key
html:p The mild/juvenile form of Canavan disease is less common. Affected individuals Orphanet 141
have mildly delayed development of speech and motor skills starting in db key
childhood. These delays may be so mild and nonspecific that they are never Orphanet 314911
recognized as being caused by Canavan disease. db key
html:p The life expectancy for people with Canavan disease varies. Most people with the Orphanet 314918
neonatal/infantile form live only into childhood, although some survive into db key
adolescence or beyond. People with the mild/juvenile form do not appear to have SNOMED CT 80544005
a shortened lifespan.
related-gene-list
Cantú syndrome https://ghr.nlm.nih.gov/condition/cantu-syndrome Cantú syndrome is a rare condition. About three dozen affected individuals html:p Cantú syndrome is a rare condition characterized by excess hair growth ad autosomal dominant ABCC9 https://ghr.nlm.nih.gov/gene/ABCC9 Cantu syndrome db key 2013-01 2017-12-29
Cantu 綜合症 have been reported in the medical literature. (hypertrichosis), a distinctive facial appearance, heart defects, and several hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome GTR C0795905
other abnormalities. The features of the disorder vary among affected hypertrichotic osteochondrodysplasia db key
individuals. GeneReviews cantu
html:p People with Cantú syndrome have thick scalp hair that extends onto the forehead db key
and grows down onto the cheeks in front of the ears. They also have increased MeSH D010009
body hair, especially on the back, arms, and legs. Most affected individuals db key
have a large head (macrocephaly) and distinctive facial features that are OMIM 239850
described as "coarse." These include a broad nasal bridge, skin folds covering db key
the inner corner of the eyes (epicanthal folds), and a wide mouth with full Orphanet 1517
lips. As affected individuals get older, the face lengthens, the chin becomes db key
more prominent, and the eyes become deep-set. SNOMED CT 239087008
html:p Many infants with Cantú syndrome are born with a heart defect such as an
enlarged heart (cardiomegaly) or patent ductus arteriosus (PDA). The ductus
arteriosus is a connection between two major arteries, the aorta and the
pulmonary artery. This connection is open during fetal development and normally
closes shortly after birth. However, the ductus arteriosus remains open, or
patent, in babies with PDA. Other heart problems have also been found in people
with Cantú syndrome, including an abnormal buildup of fluid around the heart
(pericardial effusion) and high blood pressure in the blood vessels that carry
blood from the heart to the lungs (pulmonary hypertension).
html:p Additional features of this condition include distinctive skeletal
abnormalities, a large body size (macrosomia) at birth, a reduced amount of fat
under the skin (subcutaneous fat) beginning in childhood, deep horizontal
creases in the palms of the hands and soles of the feet, and an increased
susceptibility to respiratory infections. Other signs and symptoms that have
been reported include abnormal swelling in the body's tissues (lymphedema),
side-to-side curvature of the spine (scoliosis), and reduced bone density
(osteopenia). Some affected children have weak muscle tone (hypotonia) that
delays the development of motor skills such as sitting, standing, and walking.
Most have mildly delayed speech, and some affected children have mild
intellectual disability or learning problems.
related-gene-list
Cap myopathy https://ghr.nlm.nih.gov/condition/cap-myopathy Cap myopathy is a rare disorder that has been identified in only a small html:p Cap myopathy is a disorder that primarily affects skeletal muscles, which are ad autosomal dominant ACTA1 https://ghr.nlm.nih.gov/gene/ACTA1 cap disease db key 2012-04 2017-12-29
(Muscle) number of individuals. Its exact prevalence is unknown. muscles that the body uses for movement. People with cap myopathy have muscle code memo related-gene gene-symbol ghr-page congenital myopathy 先天性肌肉病變 with caps GTR C2750413
weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but n not inherited TPM2 https://ghr.nlm.nih.gov/gene/TPM2 db key
they are most severely affected in the muscles of the face, neck, and limbs. The related-gene gene-symbol ghr-page GTR C2750414
muscle weakness, which begins at birth or during childhood, can worsen over TPM3 https://ghr.nlm.nih.gov/gene/TPM3 db key
time. MeSH D020914
html:p Affected individuals may have feeding and swallowing difficulties in infancy. db key
They typically have delayed development of motor skills such as sitting, OMIM 609284
crawling, standing, and walking. They may fall frequently, tire easily, and have db key
difficulty running, climbing stairs, or jumping. In some cases, the muscles OMIM 609285
used for breathing are affected, and life-threatening breathing difficulties can db key
occur. Orphanet 171881
html:p People with cap myopathy may have a high arch in the roof of the mouth db key
(high-arched palate), severely drooping eyelids (ptosis), and a long face. Some SNOMED CT 703532002
affected individuals develop an abnormally curved lower back (lordosis) or a
spine that curves to the side (scoliosis).
html:p The name cap myopathy comes from characteristic abnormal cap-like structures
that can be seen in muscle cells when muscle tissue is viewed under a
microscope. The severity of cap myopathy is related to the percentage of muscle
cells that have these caps. Individuals in whom 70 to 75 percent of muscle cells
have caps typically have severe breathing problems and may not survive
childhood, while those in whom 10 to 30 percent of muscle cells have caps have
milder symptoms and can live into adulthood.
related-gene-list
Capillary malformation-arteriovenous malformation syndrome https://ghr.nlm.nih.gov/condition/capillary-malformation-arteriovenous-malformat CM-AVM is thought to occur in at least 1 in 100,000 people of northern html:p Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a ad autosomal dominant RASA1 https://ghr.nlm.nih.gov/gene/RASA1 capillary malformation-arteriovenous malformation db key 2011-08 2017-12-29
(Vascular) ion-syndrome European origin. The prevalence of the condition in other populations is disorder of the vascular system, which is the body's complex network of blood CM-AVM GTR C1842180
unknown. vessels. The vascular system consists of arteries, which carry oxygen-rich blood db key
from the heart to the body's various organs and tissues; veins, which carry GeneReviews rasa1-rel-dis
blood back to the heart; and capillaries, which are tiny blood vessels that db key
connect arteries and veins. MeSH D054079
html:p CM-AVM is characterized by capillary malformations (CMs), which are composed of db key
enlarged capillaries that increase blood flow near the surface of the skin. OMIM 608354
These malformations look like multiple small, round, pink or red spots on the db key
skin. In most affected individuals, capillary malformations occur on the face, Orphanet 137667
arms, and legs. These spots may be visible from birth or may develop during db key
childhood. By themselves, capillary malformations usually do not cause any SNOMED CT 703533007
health problems.
html:p In some people with CM-AVM, capillary malformations are the only sign of the
disorder. However, other affected individuals also have more serious vascular
abnormalities known as arteriovenous malformations (AVMs) and arteriovenous
fistulas (AVFs). AVMs and AVFs are abnormal connections between arteries, veins,
and capillaries that affect blood circulation. Depending on where they occur in
the body, these abnormalities can be associated with complications including
abnormal bleeding, migraine headaches, seizures, and heart failure. In some
cases the complications can be life-threatening. In people with CM-AVM,
complications of AVMs and AVFs tend to appear in infancy or early childhood;
however, some of these vascular abnormalities never cause any symptoms.
html:p Some vascular abnormalities seen in CM-AVM are similar to those that occur in a
condition called Parkes Weber syndrome. In addition to vascular abnormalities,
Parkes Weber syndrome usually involves overgrowth of one limb. CM-AVM and some
cases of Parkes Weber syndrome have the same genetic cause.
related-gene-list
Carbamoyl phosphate synthetase I deficiency https://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency Carbamoyl phosphate synthetase I deficiency is a rare disorder; its overall html:p Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ar autosomal recessive CPS1 https://ghr.nlm.nih.gov/gene/CPS1 carbamoyl-phosphate synthase I deficiency disease db key 2013-02 2017-12-29
incidence is unknown. Researchers in Japan have estimated that it occurs in 1 ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed carbamyl-phosphate synthetase I deficiency disease GTR C0751753
in 800,000 newborns in that country. when proteins are broken down in the body, is toxic if the levels become too congenital hyperammonemia, type I db key
high. The brain is especially sensitive to the effects of excess ammonia. GeneReviews ucd-overview
html:p In the first few days of life, infants with carbamoyl phosphate synthetase I db key
deficiency typically exhibit the effects of hyperammonemia, which may include ICD-10-CM E72.29
unusual sleepiness, poorly regulated breathing rate or body temperature, db key
unwillingness to feed, vomiting after feeding, unusual body movements, seizures, MeSH D020165
or coma. Affected individuals who survive the newborn period may experience db key
recurrence of these symptoms if diet is not carefully managed or if they OMIM 237300
experience infections or other stressors. They may also have delayed development db key
and intellectual disability. Orphanet 147
html:p In some people with carbamoyl phosphate synthetase I deficiency, signs and db key
symptoms may be less severe and appear later in life. SNOMED CT 62522004
related-gene-list
Carbonic anhydrase VA deficiency https://ghr.nlm.nih.gov/condition/carbonic-anhydrase-va-deficiency The prevalence of carbonic anhydrase VA deficiency is unknown. Only a small html:p Carbonic anhydrase VA deficiency is an inherited disorder characterized by ar autosomal recessive CA5A https://ghr.nlm.nih.gov/gene/CA5A CA-VA deficiency db key 2016-09 2017-12-29
number of affected individuals have been described in the medical literature. episodes during which the balance of certain substances in the body is disrupted CA5AD GTR C3810404
However, the disorder may be underdiagnosed because the metabolic crisis often (known as metabolic crisis) and brain function is abnormal (known as acute hyperammonemia due to carbonic anhydrase VA deficiency db key
does not recur after the first episode; researchers suspect that some babies encephalopathy). These potentially life-threatening episodes can cause poor hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency GeneReviews ca5a-def
diagnosed with transient hyperammonemia may actually have carbonic anhydrase VA feeding, vomiting, weight loss, tiredness (lethargy), rapid breathing mitochondrial carbonic anhydrase va deficiency db key
deficiency. (tachypnea), seizures, or coma. MeSH D020739
html:p During an episode, people with carbonic anhydrase VA deficiency have excess db key
ammonia in the blood (hyperammonemia), problems with acid-base balance in the MeSH D022124
blood (metabolic acidosis and respiratory alkalosis), low glucose in the blood db key
(hypoglycemia), and reduced production of a substance called bicarbonate in the OMIM 615751
liver. These imbalances lead to the signs and symptoms that occur during the db key
episodes. Orphanet 401948
html:p People with carbonic anhydrase VA deficiency typically first experience episodes
of the disorder by age 2. These episodes may be triggered by going without food
(fasting) for longer than usual between meals or when energy demands are
increased, such as during illness. Between episodes, children with carbonic
anhydrase VA deficiency are generally healthy, and more than half have no
further episodes after the first one. Some affected children have mildly delayed
development or learning disabilities, while others develop normally for their
age.
html:p The risk of metabolic crisis and acute encephalopathy is thought to decrease
after childhood. Because of the small number of people with carbonic anhydrase
VA deficiency who have come to medical attention, the effects of this disorder
in adults are not well understood.
Carbohydrate Deficiency Glycoprotein Type I Syndrome, CDG1a
醣類缺乏醣蛋白症候群第一型
related-gene-list
Cardiofaciocutaneous syndrome https://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome Cardiofaciocutaneous syndrome is a very rare condition whose incidence is html:p Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, ad autosomal dominant BRAF https://ghr.nlm.nih.gov/gene/BRAF cardio-facio-cutaneous syndrome db key 2012-05 2017-12-29
CFC综合症 unknown. Researchers estimate that 200 to 300 people worldwide have this particularly the heart (cardio-), facial features (facio-), and the skin and related-gene gene-symbol ghr-page CFC syndrome GTR C1275081
肉鹼棕櫚醯基轉移酶缺乏第一型 condition. hair (cutaneous). People with this condition also have delayed development and KRAS https://ghr.nlm.nih.gov/gene/KRAS db key
intellectual disability, usually ranging from moderate to severe. related-gene gene-symbol ghr-page GeneReviews cfc
html:p Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart MAP2K1 https://ghr.nlm.nih.gov/gene/MAP2K1 db key
problems most commonly associated with this condition include malformations of related-gene gene-symbol ghr-page MeSH D004476
one of the heart valves that impairs blood flow from the heart to the lungs MAP2K2 https://ghr.nlm.nih.gov/gene/MAP2K2 db key
(pulmonic stenosis), a hole between the two upper chambers of the heart (atrial MeSH D006330
septal defect), and a form of heart disease that enlarges and weakens the heart db key
muscle (hypertrophic cardiomyopathy). OMIM 115150
html:p Cardiofaciocutaneous syndrome is also characterized by distinctive facial db key
features. These include a high forehead that narrows at the temples, a short Orphanet 1340
nose, widely spaced eyes (ocular hypertelorism), outside corners of the eyes db key
that point downward (down-slanting palpebral fissures), droopy eyelids (ptosis), SNOMED CT 403770008
a small chin, and low-set ears. Overall, the face is broad and long, and the
facial features are sometimes described as "coarse."
html:p Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome.
Many affected people have dry, rough skin; dark-colored moles (nevi); wrinkled
palms and soles; and a skin condition called keratosis pilaris, which causes
small bumps to form on the arms, legs, and face. People with
cardiofaciocutaneous syndrome also tend to have thin, dry, curly hair and sparse
or absent eyelashes and eyebrows.
html:p Infants with cardiofaciocutaneous syndrome typically have weak muscle tone
(hypotonia), feeding difficulties, and a failure to grow and gain weight at the
normal rate (failure to thrive). Additional features of this disorder in
children and adults can include an unusually large head (macrocephaly), short
stature, problems with vision, and seizures.
html:p The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly
with those of two other genetic conditions, Costello syndrome and Noonan
syndrome. The three conditions are distinguished by their genetic cause and
specific patterns of signs and symptoms; however, it can be difficult to tell
these conditions apart, particularly in infancy. Unlike Costello syndrome, which
significantly increases a person's cancer risk, cancer does not appear to be a
major feature of cardiofaciocutaneous syndrome.
related-gene-list
Carney complex https://ghr.nlm.nih.gov/condition/carney-complex Carney complex is a rare disorder; fewer than 750 affected individuals have html:p Carney complex is a disorder characterized by an increased risk of several types ad autosomal dominant PRKAR1A https://ghr.nlm.nih.gov/gene/PRKAR1A Carney Syndrome db key 2010-01 2017-12-29
been identified. of tumors. Affected individuals also usually have changes in skin coloring LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome GTR C0406810
(pigmentation). Signs and symptoms of this condition commonly begin in the teens NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome db key
or early adulthood. GTR C1854540
html:p Individuals with Carney complex are at increased risk of developing noncancerous db key
(benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of GTR C2607929
the body. Cardiac myxomas may be found in any of the four chambers of the heart db key
and can develop in more than one chamber. These tumors can block the flow of GeneReviews carney
blood through the heart, causing serious complications or sudden death. Myxomas db key
may also develop on the skin and in internal organs. Skin myxomas appear as MeSH D056733
small bumps on the surface of the skin or as lumps underneath the skin. In db key
Carney complex, myxomas have a tendency to recur after they are removed. OMIM 160980
html:p Individuals with Carney complex also develop tumors in hormone-producing db key
(endocrine) glands, such as the adrenal glands located on top of each kidney. Orphanet 1359
People with this condition may develop a specific type of adrenal disease called db key
primary pigmented nodular adrenocortical disease (PPNAD). PPNAD causes the SNOMED CT 239132009
adrenal glands to produce an excess of the hormone cortisol. High levels of
cortisol (hypercortisolism) can lead to the development of Cushing syndrome.
This syndrome causes weight gain in the face and upper body, slowed growth in
children, fragile skin, fatigue, and other health problems.
html:p People with Carney complex may also develop tumors of other endocrine tissues,
including the thyroid, testes, and ovaries. A tumor called an adenoma may form
in the pituitary gland, which is located at the base of the brain. A pituitary
adenoma usually results in the production of too much growth hormone. Excess
growth hormone leads to acromegaly, a condition characterized by large hands and
feet, arthritis, and "coarse" facial features.
html:p Some people with Carney complex develop a rare tumor called psammomatous
melanotic schwannoma. This tumor occurs in specialized cells called Schwann
cells, which wrap around and insulate nerves. This tumor is usually benign, but
in some cases it can become cancerous (malignant).
html:p Almost all people with Carney complex have areas of unusual skin pigmentation.
Brown skin spots called lentigines may appear anywhere on the body but tend to
occur around the lips, eyes, or genitalia. In addition, some affected
individuals have at least one blue-black mole called a blue nevus.
related-gene-list
Carnitine-acylcarnitine translocase deficiency https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency CACT deficiency is very rare; at least 30 cases have been reported. html:p Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that ar autosomal recessive SLC25A20 https://ghr.nlm.nih.gov/gene/SLC25A20 CACT deficiency db key 2015-11 2017-12-29
醯基肉鹼轉位酶缺乏症 prevents the body from using certain fats for energy, particularly during carnitine-acylcarnitine carrier deficiency GTR C0342791
肉鹼轉位酶缺乏症? periods without food (fasting). Signs and symptoms of this disorder usually carnitine acylcarnitine translocase deficiency db key
begin soon after birth and may include breathing problems, seizures, and an MeSH D008052
irregular heartbeat (arrhythmia). Affected individuals typically have low blood db key
sugar (hypoglycemia) and a low level of ketones, which are produced during the OMIM 212138
breakdown of fats and used for energy. Together these signs are called db key
hypoketotic hypoglycemia. People with CACT deficiency also usually have excess Orphanet 159
ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a db key
weakened heart muscle (cardiomyopathy). SNOMED CT 238003000
html:p Many infants with CACT deficiency do not survive the newborn period. Some
affected individuals have a less severe form of the condition and do not develop
signs and symptoms until early childhood. These individuals are at risk for
liver failure, nervous system damage, coma, and sudden death.
related-gene-list
Carnitine palmitoyltransferase I deficiency https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency CPT I deficiency is a rare disorder; fewer than 50 affected individuals html:p Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents ar autosomal recessive CPT1A https://ghr.nlm.nih.gov/gene/CPT1A carnitine palmitoyltransferase IA deficiency db key 2014-04 2017-12-29
肉鹼結合酵素缺乏症第yi型 have been identified. This disorder may be more common in the Hutterite and the body from using certain fats for energy, particularly during periods CPT 1A deficiency GTR C0342789
Inuit populations. without food (fasting). The severity of this condition varies among affected CPT deficiency, hepatic, type I db key
individuals. CPT I deficiency GeneReviews cpt1a
html:p Signs and symptoms of CPT I deficiency often appear during early childhood. liver form of carnitine palmitoyltransferase deficiency db key
Affected individuals usually have low blood sugar (hypoglycemia) and a low level MeSH D008052
of ketones, which are produced during the breakdown of fats and used for db key
energy. Together these signs are called hypoketotic hypoglycemia. People with OMIM 255120
CPT I deficiency can also have an enlarged liver (hepatomegaly), liver db key
malfunction, and elevated levels of carnitine in the blood. Carnitine, a natural Orphanet 156
substance acquired mostly through the diet, is used by cells to process fats db key
and produce energy. Individuals with CPT I deficiency are at risk for nervous SNOMED CT 238001003
system damage, liver failure, seizures, coma, and sudden death.
html:p Problems related to CPT I deficiency can be triggered by periods of fasting or
by illnesses such as viral infections. This disorder is sometimes mistaken for
Reye syndrome, a severe disorder that may develop in children while they appear
to be recovering from viral infections such as chicken pox or flu. Most cases of
Reye syndrome are associated with the use of aspirin during these viral
infections.
related-gene-list
Carnitine palmitoyltransferase II deficiency https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency CPT II deficiency is a rare disorder. The lethal neonatal form has been html:p Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that ar autosomal recessive CPT2 https://ghr.nlm.nih.gov/gene/CPT2 carnitine palmitoyltransferase 2 deficiency db key 2014-06 2017-12-29
肉鹼結合酵素缺乏症第二型 described in at least 18 families, while the severe infantile prevents the body from using certain fats for energy, particularly during CPT II deficiency GTR C0342790
hepatocardiomuscular form has been identified in approximately 30 families. The periods without food (fasting). There are three main types of CPT II deficiency: CPT2 deficiency db key
myopathic form occurs most frequently, with more than 300 reported cases. a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a GTR C1833508
myopathic form. db key
html:p The lethal neonatal form of CPT II deficiency becomes apparent soon after birth. GTR C1833511
Infants with this form of the disorder develop respiratory failure, seizures, db key
liver failure, a weakened heart muscle (cardiomyopathy), and an irregular heart GTR C1833518
beat (arrhythmia). Affected individuals also have low blood sugar (hypoglycemia) db key
and a low level of ketones, which are produced during the breakdown of fats and GeneReviews cpt2
used for energy. Together these signs are called hypoketotic hypoglycemia. In db key
many cases, the brain and kidneys are also structurally abnormal. Infants with ICD-10-CM E71.314
the lethal neonatal form of CPT II deficiency usually live for a few days to a db key
few months. MeSH D008052
html:p The severe infantile hepatocardiomuscular form of CPT II deficiency affects the db key
liver, heart, and muscles. Signs and symptoms usually appear within the first OMIM 255110
year of life. This form involves recurring episodes of hypoketotic hypoglycemia, db key
seizures, an enlarged liver (hepatomegaly), cardiomyopathy, and arrhythmia. OMIM 600649
Problems related to this form of CPT II deficiency can be triggered by periods db key
of fasting or by illnesses such as viral infections. Individuals with the severe OMIM 608836
infantile hepatocardiomuscular form of CPT II deficiency are at risk for liver db key
failure, nervous system damage, coma, and sudden death. Orphanet 157
html:p The myopathic form is the least severe type of CPT II deficiency. This form is db key
characterized by recurrent episodes of muscle pain (myalgia) and weakness and is SNOMED CT 238002005
associated with the breakdown of muscle tissue (rhabdomyolysis). The
destruction of muscle tissue releases a protein called myoglobin, which is
processed by the kidneys and released in the urine (myoglobinuria). Myoglobin
causes the urine to be red or brown. This protein can also damage the kidneys,
in some cases leading to life-threatening kidney failure. Episodes of myalgia
and rhabdomyolysis may be triggered by exercise, stress, exposure to extreme
temperatures, infections, or fasting. The first episode usually occurs during
childhood or adolescence. Most people with the myopathic form of CPT II
deficiency have no signs or symptoms of the disorder between episodes.
related-gene-list
Carpenter syndrome https://ghr.nlm.nih.gov/condition/carpenter-syndrome Carpenter syndrome is thought to be a rare condition; approximately 70 html:p Carpenter syndrome is a condition characterized by the premature fusion of ar autosomal recessive MEGF8 https://ghr.nlm.nih.gov/gene/MEGF8 ACPS II db key 2013-05 2017-12-29
cases have been described in the scientific literature. certain skull bones (craniosynostosis), abnormalities of the fingers and toes, related-gene gene-symbol ghr-page acrocephalopolysyndactyly 2 GTR C1275078
and other developmental problems. RAB23 https://ghr.nlm.nih.gov/gene/RAB23 acrocephalopolysyndactyly type II db key
html:p Craniosynostosis prevents the skull from growing normally, frequently giving the acrocephalosyndactyly, type II GTR C3554247
head a pointed appearance (acrocephaly). In severely affected individuals, the type II acrocephalosyndactyly db key
abnormal fusion of the skull bones results in a deformity called a cloverleaf MeSH D000168
skull. Craniosynostosis can cause differences between the two sides of the head db key
and face (craniofacial asymmetry). Early fusion of the skull bones can affect OMIM 201000
the development of the brain and lead to increased pressure within the skull db key
(intracranial pressure). Premature fusion of the skull bones can cause several OMIM 614976
characteristic facial features in people with Carpenter syndrome. Distinctive db key
facial features may include a flat nasal bridge, outside corners of the eyes Orphanet 65759
that point downward (down-slanting palpebral fissures), low-set and abnormally db key
shaped ears, underdeveloped upper and lower jaws, and abnormal eye shape. Some SNOMED CT 205813009
affected individuals also have dental abnormalities including small primary db key
(baby) teeth. Vision problems also frequently occur. SNOMED CT 403767009
html:p Abnormalities of the fingers and toes include fusion of the skin between two or
more fingers or toes (cutaneous syndactyly), unusually short fingers or toes
(brachydactyly), or extra fingers or toes (polydactyly). In Carpenter syndrome,
cutaneous syndactyly is most common between the third (middle) and fourth (ring)
fingers, and polydactyly frequently occurs next to the big or second toe or the
fifth (pinky) finger.
html:p People with Carpenter syndrome often have intellectual disability, which can
range from mild to profound. However, some individuals with this condition have
normal intelligence. The cause of intellectual disability is unknown, as the
severity of craniosynostosis does not appear to be related to the severity of
intellectual disability.
html:p Other features of Carpenter syndrome include obesity that begins in childhood, a
soft out-pouching around the belly-button (umbilical hernia), hearing loss, and
heart defects. Additional skeletal abnormalities such as deformed hips, a
rounded upper back that also curves to the side (kyphoscoliosis), and knees that
are angled inward (genu valgum) frequently occur. Nearly all affected males
have genital abnormalities, most frequently undescended testes (cryptorchidism).
html:p A few people with Carpenter syndrome have organs or tissues within their chest
and abdomen that are in mirror-image reversed positions. This abnormal placement
may affect several internal organs (situs inversus); just the heart
(dextrocardia), placing the heart on the right side of the body instead of on
the left; or only the major (great) arteries of the heart, altering blood flow.
html:p The signs and symptoms of this disorder vary considerably, even within the same
family. The life expectancy for individuals with Carpenter syndrome is shortened
but extremely variable.
html:p The signs and symptoms of Carpenter syndrome are similar to another genetic
condition called Greig cephalopolysyndactyly syndrome. The overlapping features,
which include craniosynostosis, polydactyly, and heart abnormalities, can cause
these two conditions to be misdiagnosed; genetic testing is often required for
an accurate diagnosis.
related-gene-list
Cartilage-hair hypoplasia https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia Cartilage-hair hypoplasia occurs most often in the Old Order Amish html:p Cartilage-hair hypoplasia is a disorder of bone growth characterized by short ar autosomal recessive RMRP https://ghr.nlm.nih.gov/gene/RMRP cartilage-hair syndrome db key 2015-03 2017-12-29
軟骨髮質發育不全 population, where it affects about 1 in 1,300 newborns. In people of Finnish stature (dwarfism) with other skeletal abnormalities; fine, sparse hair CHH GTR C0220748
descent, its incidence is approximately 1 in 20,000. Outside of these (hypotrichosis); and abnormal immune system function (immune deficiency) that McKusick's metaphyseal chondrodysplasia syndrome db key
populations, the condition is rare, and its specific incidence is not known. It can lead to recurrent infections. metaphyseal chondrodysplasia, McKusick type GeneReviews chh
has been reported in individuals of European and Japanese descent. html:p People with cartilage-hair hypoplasia have unusually short limbs and short metaphyseal chondrodysplasia, recessive type db key
stature from birth. They typically have malformations in the cartilage near the MeSH D004392
ends of the long bones in the arms and legs (metaphyseal chondrodysplasia), db key
which then affects development of the bone itself. Most people with OMIM 250250
cartilage-hair hypoplasia are unusually flexible in some joints, but they may db key
have difficulty extending their elbows fully. Orphanet 175
html:p Affected individuals have hair that is lighter in color than that of other db key
family members because the core of each hair, which contains some of the pigment SNOMED CT 7720002
that contributes the hair's color, is missing. The missing core also makes each
strand of hair thinner, causing the hair to have a sparse appearance overall.
Unusually light-colored skin (hypopigmentation), malformed nails, and dental
abnormalities may also be seen in this disorder.
html:p The extent of the immune deficiency in cartilage-hair hypoplasia varies from
mild to severe. Affected individuals with the most severe immune problems are
considered to have severe combined immunodeficiency (SCID). People with SCID
lack virtually all immune protection from bacteria, viruses, and fungi and are
prone to repeated and persistent infections that can be very serious or
life-threatening. These infections are often caused by "opportunistic" organisms
that ordinarily do not cause illness in people with a normal immune system.
Most people with cartilage-hair hypoplasia, even those who have milder immune
deficiency, experience infections of the respiratory system, ears, and sinuses.
In particular, the chicken pox virus (varicella) often causes dangerous
infections in people with this disorder. Autoimmune disorders, which occur when
the immune system malfunctions and attacks the body's tissues and organs, occur
in some people with cartilage-hair hypoplasia. Affected individuals are also at
an increased risk of developing cancer, particularly certain skin cancers (basal
cell carcinomas), cancer of blood-forming cells (leukemia), and cancer of
immune system cells (lymphoma).
html:p Some people with cartilage-hair hypoplasia experience gastrointestinal problems.
These problems may include an inability to properly absorb nutrients or
intolerance of a protein called gluten found in wheat and other grains (celiac
disease). Affected individuals may have Hirschsprung disease, an intestinal
disorder that causes severe constipation, intestinal blockage, and enlargement
of the colon. Narrowing of the anus (anal stenosis) or blockage of the esophagus
(esophageal atresia) may also occur.
inheritance-pattern-list related-gene-list
CASK-related intellectual disability https://ghr.nlm.nih.gov/condition/cask-related-intellectual-disability The prevalence of CASK-related intellectual disability is unknown. More html:p CASK-related intellectual disability is a disorder of brain development that has two main xd X-linked dominant CASK synonym db-key db key 2014-03 2017-12-29
than 50 females with MICPCH have been described in the medical literature, while forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked synonym GTR C2677903
only a few affected males have been described.By contrast, more than 20 males intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, db-key db key
but only a few females have been diagnosed with the milder form of the disorder, males typically have more severe signs and symptoms than do females; the more severe MICPCH GeneReviews cask-dis
XL-ID with or without nystagmus. This form of the disorder may go unrecognized mostly affects females, likely because only a small number of males survive to birth. db-key db key
in mildly affected females. MeSH D008607
html:p People with MICPCH often have an unusually small head at birth, and the head db-key db key
does not grow at the same rate as the rest of the body, so it appears that the OMIM 300422
head is getting smaller as the body grows (progressive microcephaly). db-key db key
Individuals with this condition have underdevelopment (hypoplasia) of areas of OMIM 300749
the brain called the cerebellum and the pons. The cerebellum is the part of the db-key db key
brain that coordinates movement. The pons is located at the base of the brain in Orphanet 163937
an area called the brainstem, where it transmits signals from the cerebellum to db-key db key
the rest of the brain. SNOMED CT 703389002
html:p Individuals with MICPCH have intellectual disability that is usually severe.
They may have sleep disturbances and exhibit self-biting, hand flapping, or
other abnormal repetitive behaviors. Seizures are also common in this form of
the disorder.
html:p People with MICPCH do not usually develop language skills, and most do not learn
to walk. They have hearing loss caused by nerve problems in the inner ear
(sensorineural hearing loss), and most also have abnormalities affecting the
eyes. These abnormalities include underdevelopment of the nerves that carry
information from the eyes to the brain (optic nerve hypoplasia), breakdown of
the light-sensing tissue at the back of the eyes (retinopathy), and eyes that do
not look in the same direction (strabismus). Characteristic facial features may
include arched eyebrows; a short, broad nose; a lengthened area between the
nose and mouth (philtrum); a protruding upper jaw (maxilla); a short chin; and
large ears.
html:p Individuals with MICPCH may have weak muscle tone (hypotonia) in the torso along
with increased muscle tone (hypertonia) and stiffness (spasticity) in the
limbs. Movement problems such as involuntary tensing of various muscles
(dystonia) may also occur in this form of the disorder.
html:p XL-ID with or without nystagmus (rapid, involuntary eye movements) is a milder
form of CASK-related intellectual disability. The intellectual disability in this form
of the disorder can range from mild to severe; some affected females have
normal intelligence. About half of affected individuals have nystagmus.
Seizures and rhythmic shaking (tremors) may also occur in this form.
Cat Eye Syndrome, CES
貓眼症候群
related-gene-list
Catecholaminergic polymorphic ventricular tachycardia https://ghr.nlm.nih.gov/condition/catecholaminergic-polymorphic-ventricular-tach The prevalence of CPVT is estimated to be about 1 in 10,000 people. html:p Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition ad autosomal dominant CASQ2 https://ghr.nlm.nih.gov/gene/CASQ2 bidirectional tachycardia induced by catecholamines db key 2009-12 2017-12-29
儿茶酚胺敏感性室性心动过速 ycardia However, the true prevalence of this condition is unknown. characterized by an abnormal heart rhythm (arrhythmia). As the heart rate code memo related-gene gene-symbol ghr-page Catecholamine-induced polymorphic ventricular tachycardia GTR C1631597
increases in response to physical activity or emotional stress, it can trigger ar autosomal recessive RYR2 https://ghr.nlm.nih.gov/gene/RYR2 CPVT db key
an abnormally fast and irregular heartbeat called ventricular tachycardia. familial polymorphic ventricular tachycardia GTR C2677794
Episodes of ventricular tachycardia can cause light-headedness, dizziness, and FPVT db key
fainting (syncope). In people with CPVT, these episodes typically begin in GeneReviews cvt
childhood. db key
html:p If CPVT is not recognized and treated, an episode of ventricular tachycardia may ICD-10-CM I47.2
cause the heart to stop beating (cardiac arrest), leading to sudden death. db key
Researchers suspect that CPVT may be a significant cause of sudden death in MeSH D017180
children and young adults without recognized heart abnormalities. db key
OMIM 604772
db key
OMIM 611938
db key
Orphanet 3286
db key
inheritance-pattern-list related-gene-list SNOMED CT 419671004
CATSPER1-related nonsyndromic male infertility https://ghr.nlm.nih.gov/condition/catsper1-related-nonsyndromic-male-infertility The prevalence of CATSPER1-related nonsyndromic male infertility is html:p CATSPER1-related nonsyndromic male infertility is a condition ar autosomal recessive ghr-page CATSPER-related nonsyndromic male infertility db-key db key 2010-04 2017-12-29
unknown. that affects the function of sperm, leading to an inability to father children. Males https://ghr.nlm.nih.gov/gene/CATSPER1 CATSPER1-related male infertility GTR C2751811
with this condition produce sperm that have decreased movement db-key db key
(motility). Affected men may also produce a smaller than usual number GeneReviews catsper-mi
of sperm cells or sperm cells that are abnormally shaped. Men with -related nonsyndromic male infertility do not have any other symptoms related to db-key db key
CATSPER1-related nonsyndromic male infertility do not have any this condition. MeSH D007248
other symptoms related to this condition. db-key db key
OMIM 612997
db-key db key
synonym-list db-key-list SNOMED CT 236792002
Caudal regression syndrome https://ghr.nlm.nih.gov/condition/caudal-regression-syndrome Caudal regression syndrome is estimated to occur in 1 to 2.5 per 100,000 html:p Caudal regression syndrome is a disorder that impairs the development of the u pattern unknown synonym caudal dysplasia sequence key 2017-12-29
newborns. This condition is much more common in infants born to mothers with lower (caudal) half of the body. Affected areas can include the lower back and synonym caudal regression sequence db-key C0300948
diabetes when it affects an estimated 1 in 350 newborns. limbs, the genitourinary tract, and the gastrointestinal tract. synonym sacral agenesis key
html:p In this disorder, the bones of the lower spine (vertebrae) are frequently synonym sacral defect with anterior meningocele db-key D013118
misshapen or missing, and the corresponding sections of the spinal cord are also key
irregular or missing. Affected individuals may have incomplete closure of the db-key 600145
vertebrae around the spinal cord, a fluid-filled sac on the back covered by skin key
that may or may not contain part of the spinal cord, or tufts of hair at the db-key 3027
base of the spine. People with caudal regression syndrome can also have an key
abnormal side-to-side curvature of the spine (scoliosis). The spinal db-key 205425003
abnormalities may affect the size and shape of the chest, leading to breathing key
problems in some individuals. db-key 253189008
html:p Individuals with caudal regression syndrome may have small hip bones with a key
limited range of motion. The buttocks tend to be flat and dimpled. The bones of db-key 253191000
the legs are typically underdeveloped, most frequently the upper leg bones key
(femurs). In some individuals, the legs are bent with the knees pointing out to 8301004
the side and the feet tucked underneath the hips (sometimes called a frog
leg-like position). Affected individuals may be born with inward- and
upward-turning feet (clubfeet), or the feet may be outward- and upward-turning
(calcaneovalgus). Some people experience decreased sensation in their lower
limbs.
html:p Abnormalities in the genitourinary tract in caudal regression syndrome are
extremely varied. Often the kidneys are malformed; defects include a missing
kidney (unilateral renal agenesis), kidneys that are fused together (horseshoe
kidney), or duplication of the tubes that carry urine from each kidney to the
bladder (ureteral duplication). These kidney abnormalities can lead to frequent
urinary tract infections and progressive kidney failure. Additionally, affected
individuals may have protrusion of the bladder through an opening in the
abdominal wall (bladder exstrophy). Damage to the nerves that control bladder
function, a condition called neurogenic bladder, causes affected individuals to
have progressive difficulty controlling the flow of urine. Genital abnormalities
in males can include the urethra opening on the underside of the penis
(hypospadia) or undescended testes (cryptorchidism). Females may have an
abnormal connection between the rectum and vagina (rectovaginal fistula). In
severe cases, both males and females have a lack of development of the genitalia
(genital agenesis).
html:p People with caudal regression syndrome may have abnormal twisting (malrotation)
of the large intestine, an obstruction of the anal opening (imperforate anus),
soft out-pouchings in the lower abdomen (inguinal hernias), or other
malformations of the gastrointestinal tract. Affected individuals are often
constipated and may experience loss of control of bladder and bowel function.
inheritance-pattern-list
CAV3-related distal myopathy https://ghr.nlm.nih.gov/condition/cav3-related-distal-myopathy The prevalence of CAV3-related distal myopathy is unknown. Only a few html:p html:i ad autosomal dominant gene-symbol synonym distal myopathy, Tateyama type db-key db key 2014-05 2017-12-29
affected individuals have been described in the medical literature. CAV3 CAV3 synonym MPDT GTR C3280443
db-key db key
-related distal myopathy experience wasting (atrophy) and weakness of the small GeneReviews cav
muscles in the hands and feet that generally become noticeable in adulthood. A db-key db key
bump or other sudden impact on the muscles, especially those in the forearms, MeSH D049310
may cause them to exhibit repetitive tensing (percussion-induced rapid db-key db key
contraction). The rapid contractions can continue for up to 30 seconds and may OMIM 614321
html:i -related distal myopathy. The muscles closer to the center of the body (proximal db-key db key
CAV3 muscles) such as the thighs and upper arms are normal in this condition. SNOMED CT 711265009
related-gene-list
CDKL5 deficiency disorder https://ghr.nlm.nih.gov/condition/cdkl5-deficiency-disorder CDKL5 deficiency disorder appears to be a rare condition. More than 1,000 html:p CDKL5 deficiency disorder is characterized by seizures that begin in infancy, xd X-linked dominant CDKL5 https://ghr.nlm.nih.gov/gene/CDKL5 CDKL5 deficiency db key 2017-11 2017-12-29
cases have been reported worldwide. followed by significant delays in many aspects of development. CDKL5 disorder GTR C1839333
html:p Seizures in CDKL5 deficiency disorder usually begin within the first 3 months of CDKL5 encephalopathy db key
life, and they can appear as early as the first week after birth. The types of CDKL5-related epilepsy MeSH D013036
seizures change with age, and they usually follow a predictable pattern. CDKL5-related epileptic encephalopathy db key
Seizures occur daily in most affected individuals, and they are resistant to early infantile epileptic encephalopathy 2 Orphanet 3095
treatment. db key
html:p Development is impaired in children with CDKL5 deficiency disorder. Most have SNOMED CT 718393002
severe intellectual disability and little or no speech. The development of gross
motor skills, such as sitting, standing, and walking, is delayed. About
one-third of affected individuals are able to walk independently. Fine motor
skills, such as picking up small objects with the fingers, are also impaired;
about half of affected individuals have purposeful use of their hands.
html:p Other common features of CDKL5 deficiency disorder include repetitive hand
movements (stereotypies), such as clapping, hand licking, and hand sucking;
tooth grinding (bruxism); disrupted sleep; feeding difficulties; and
gastrointestinal problems including constipation and backflow of acidic stomach
contents into the esophagus (gastroesophageal reflux). Some affected individuals
have episodes of irregular breathing. Distinctive facial features in some
people with CDKL5 deficiency disorder include a high and broad forehead, large
and deep-set eyes, a well-defined space between the nose and upper lip
(philtrum), full lips, widely spaced teeth, and a high roof of the mouth
(palate). Other physical differences can also occur, such as an unusually small
head size (microcephaly), side-to-side curvature of the spine (scoliosis), and
tapered fingers.
html:p About 90 percent of people diagnosed with CDKL5 deficiency disorder are female.
Affected males tend to have more severe developmental disabilities, including
profound intellectual disability and almost no development of gross and fine
motor skills.
html:p CDKL5 deficiency disorder was previously classified as an atypical form of Rett
syndrome. These conditions have overlapping features, including seizures,
intellectual disability, and other problems with development. However, the signs
and symptoms associated with CDKL5 deficiency disorder and its genetic cause
are distinct from those of Rett syndrome, and CDKL5 deficiency disorder is now
considered a separate condition.
related-gene-list
Celiac disease https://ghr.nlm.nih.gov/condition/celiac-disease Celiac disease is a common disorder. Its prevalence has been estimated at html:p Celiac disease is a condition in which the immune system is abnormally sensitive u pattern unknown HLA-DQA1 https://ghr.nlm.nih.gov/gene/HLA-DQA1 celiac sprue db key 2015-09 2017-12-29
乳糜瀉 about 1 in 100 people worldwide. to gluten, a protein found in wheat, rye, and barley. Celiac disease is an related-gene gene-symbol ghr-page gluten enteropathy GTR C0007570
麥麩/麵筋不耐症 autoimmune disorder; autoimmune disorders occur when the immune system HLA-DQB1 https://ghr.nlm.nih.gov/gene/HLA-DQB1 sprue db key
malfunctions and attacks the body's own tissues and organs. Without a strict, GeneReviews celiac
lifelong gluten-free diet, inflammation resulting from immune system db key
overactivity may cause a wide variety of signs and symptoms involving many parts ICD-10-CM K90.0
of the body. db key
html:p Celiac disease can develop at any age after an individual starts eating foods MeSH D002446
containing gluten. The classic symptoms of the condition result from db key
inflammation affecting the gastrointestinal tract. This inflammation damages the OMIM 212750
villi, which are small, finger-like projections that line the small intestine db key
and provide a greatly increased surface area to absorb nutrients. In celiac Orphanet 555
disease, the villi become shortened and eventually flatten out. Intestinal db key
damage causes diarrhea and poor absorption of nutrients, which may lead to SNOMED CT 396331005
weight loss. Abdominal pain, swelling (distention), and food intolerances are
common in celiac disease. Inflammation associated with celiac disease may lead
to an increased risk of developing certain gastrointestinal cancers such as
cancers of the small intestine or esophagus.
html:p Inflammation and poor nutrient absorption may lead to problems affecting many
other organs and systems of the body in affected individuals. These health
problems may include iron deficiency that results in a low number of red blood
cells (anemia), vitamin deficiencies, low bone mineral density (osteoporosis),
itchy skin rashes (dermatitis herpetiformis), defects in the enamel of the
teeth, chronic fatigue, joint pain, poor growth, delayed puberty, infertility,
or repeated miscarriages. Neurological problems have also been associated with
celiac disease; these include migraine headaches, depression, attention deficit
hyperactivity disorder (ADHD), and recurrent seizures (epilepsy). Many people
with celiac disease have one or more of these varied health problems but do not
have gastrointestinal symptoms. This form of the condition is called nonclassic
celiac disease. Researchers now believe that nonclassic celiac disease is
actually more common than the classic form.
html:p Celiac disease often goes undiagnosed because many of its signs and symptoms are
nonspecific, which means they may occur in many disorders. Most people who have
one or more of these nonspecific health problems do not have celiac disease. On
average, a diagnosis of celiac disease is not made until 6 to 10 years after
symptoms begin.
html:p Some people have silent celiac disease, in which they have no symptoms of the
disorder. However, people with silent celiac disease do have immune proteins in
their blood (antibodies) that are common in celiac disease. They also have
inflammatory damage to their small intestine that can be detected with a biopsy.
html:p In a small number of cases, celiac disease does not improve with a gluten-free
diet and progresses to a condition called refractory sprue. Refractory sprue is
characterized by chronic inflammation of the gastrointestinal tract, poor
absorption of nutrients, and an increased risk of developing a type of cancer of
the immune cells called T-cell lymphoma.
related-gene-list
Central core disease https://ghr.nlm.nih.gov/condition/central-core-disease Central core disease is probably an uncommon condition, although its html:p Central core disease is a disorder that affects muscles used for movement ad autosomal dominant RYR1 https://ghr.nlm.nih.gov/gene/RYR1 CCD db key 2007-10 2017-12-29
Central core myopathy incidence is unknown. (skeletal muscles). This condition causes muscle weakness that ranges from code memo CCO GTR C0751951
肌中央軸空病 almost unnoticeable to very severe. ar autosomal recessive Central Core Myopathy db key
html:p Most people with central core disease experience persistent, mild muscle Myopathy, Central Core GeneReviews cco
weakness that does not worsen with time. This weakness affects the muscles near Shy-Magee Syndrome db key
the center of the body (proximal muscles), particularly muscles in the upper MeSH D020512
legs and hips. Muscle weakness causes affected infants to appear "floppy" and db key
can delay the development of motor skills such as sitting, standing, and OMIM 117000
walking. In severe cases, affected infants experience profoundly weak muscle db key
tone (hypotonia) and serious or life-threatening breathing problems. Central Orphanet 597
core disease is also associated with skeletal abnormalities such as abnormal db key
curvature of the spine (scoliosis), hip dislocation, and joint deformities SNOMED CT 43152001
called contractures that restrict the movement of certain joints.
html:p Many people with central core disease also have an increased risk of developing
a severe reaction to certain drugs used during surgery and other invasive
procedures. This reaction is called malignant hyperthermia. Malignant
hyperthermia occurs in response to some anesthetic gases, which are used to
block the sensation of pain, and with a particular type of muscle relaxant. If
given these drugs, people at risk for malignant hyperthermia may experience
muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever,
increased acid levels in the blood and other tissues (acidosis), and a rapid
heart rate. The complications of malignant hyperthermia can be life-threatening
unless they are treated promptly.
html:p Central core disease gets its name from disorganized areas called cores, which
are found in the center of muscle fibers in many affected individuals. These
abnormal regions can only be seen under a microscope. Although the presence of
cores can help doctors diagnose central core disease, it is unclear how they are
related to muscle weakness and the other features of this condition.
related-gene-list
Central precocious puberty https://ghr.nlm.nih.gov/condition/central-precocious-puberty Central precocious puberty is estimated to affect 1 in 5,000 to 10,000 html:p Central precocious puberty is a condition that causes early sexual development ad autosomal dominant KISS1 https://ghr.nlm.nih.gov/gene/KISS1 CPP db key 2016-10 2017-12-29
中枢性性早熟 girls. The condition is less common in boys, although the prevalence is unknown. in girls and boys. While puberty normally starts between ages 8 and 13 in girls related-gene gene-symbol ghr-page gonadotropin-dependent precocious puberty GTR C0342543
and between ages 9 and 14 in boys, girls with central precocious puberty begin KISS1R https://ghr.nlm.nih.gov/gene/KISS1R db key
exhibiting signs before age 8, and boys with this disorder begin before age 9. related-gene gene-symbol ghr-page GTR C3809199
Signs of puberty include development of pubic and underarm hair, a rapid MKRN3 https://ghr.nlm.nih.gov/gene/MKRN3 db key
increase in height (commonly referred to as a "growth spurt"), acne, and ICD-10-CM E30.1
underarm odor. Girls also develop breasts and begin their menstrual periods. db key
Boys have growth of the penis and testes and deepening of the voice. Because of MeSH D011629
the early growth spurt, children with central precocious puberty may be taller db key
than their peers; however, they may stop growing abnormally early. Without OMIM 176400
proper treatment, some affected individuals are shorter in adulthood compared db key
with other members of their family. Developing ahead of their peers can be OMIM 615346
emotionally difficult for affected individuals and may lead to psychological and db key
behavioral problems. Orphanet 759
db key
related-gene-list SNOMED CT 237816004
Centronuclear myopathy https://ghr.nlm.nih.gov/condition/centronuclear-myopathy Centronuclear myopathy is a rare condition; its exact prevalence is html:p Centronuclear myopathy is a condition characterized by muscle weakness ad autosomal dominant BIN1 https://ghr.nlm.nih.gov/gene/BIN1 CNM db key 2015-11 2017-12-29
中央核肌肉病變 unknown. (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles code memo related-gene gene-symbol ghr-page myopathy, centronuclear GTR C0410204
used for movement. The severity of centronuclear myopathy varies among affected ar autosomal recessive CCDC78 https://ghr.nlm.nih.gov/gene/CCDC78 db key
individuals, even among members of the same family. related-gene gene-symbol ghr-page GTR C1834558
html:p People with centronuclear myopathy begin experiencing muscle weakness at any DNM2 https://ghr.nlm.nih.gov/gene/DNM2 db key
time from birth to early adulthood. The muscle weakness slowly worsens over time related-gene gene-symbol ghr-page GTR C3553709
and can lead to delayed development of motor skills, such as crawling or RYR1 https://ghr.nlm.nih.gov/gene/RYR1 db key
walking; muscle pain during exercise; and difficulty walking. Some affected related-gene gene-symbol ghr-page GTR C4014814
individuals may need wheelchair assistance as the muscles atrophy and weakness SPEG https://ghr.nlm.nih.gov/gene/SPEG db key
becomes more severe. In rare instances, the muscle weakness improves over time. related-gene gene-symbol ghr-page GTR CN221282
html:p Some people with centronuclear myopathy experience mild to severe breathing TTN https://ghr.nlm.nih.gov/gene/TTN db key
problems related to the weakness of muscles needed for breathing. People with ICD-10-CM G71.2
centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other db key
facial muscles, including the muscles that control eye movement. People with MeSH D020914
this condition may also have foot abnormalities, a high arch in the roof of the db key
mouth (high-arched palate), and abnormal side-to-side curvature of the spine OMIM 160150
(scoliosis). Rarely, individuals with centronuclear myopathy have a weakened db key
heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or OMIM 255200
intellectual disability. db key
html:p A key feature of centronuclear myopathy is the displacement of the nucleus in OMIM 614807
muscle cells, which can be viewed under a microscope. Normally the nucleus is db key
found at the edges of the rod-shaped muscle cells, but in people with OMIM 615959
centronuclear myopathy the nucleus is located in the center of these cells. How db key
the change in location of the nucleus affects muscle cell function is unknown. Orphanet 595
db key
Orphanet 169186
db key
Orphanet 169189
db key
SNOMED CT 240081004
db key
related-gene-list SNOMED CT 716696006
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) https://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with- CADASIL is likely a rare condition; however, its prevalence is unknown. html:p Cerebral autosomal dominant arteriopathy with subcortical infarcts and ad autosomal dominant NOTCH3 https://ghr.nlm.nih.gov/gene/NOTCH3 CADASIL db key 2013-05 2017-12-29
體顯性腦動脈血管病變合併皮質下腦梗塞及腦白質病變 subcortical-infarcts-and-leukoencephalopathy leukoencephalopathy, usually called CADASIL, is an inherited condition that cerebral arteriopathy with subcortical infarcts and leukoencephalopathy GTR C1272305
causes stroke and other impairments. This condition affects blood flow in small familial vascular leukoencephalopathy db key
blood vessels, particularly cerebral vessels within the brain. The muscle cells hereditary dementia, multi-infarct type GeneReviews cadasil
surrounding these blood vessels (vascular smooth muscle cells) are abnormal and db key
gradually die. In the brain, the resulting blood vessel damage (arteriopathy) MeSH D046589
can cause migraines, often with visual sensations or auras, or recurrent db key
seizures (epilepsy). OMIM 125310
html:p Damaged blood vessels reduce blood flow and can cause areas of tissue death db key
(infarcts) throughout the body. An infarct in the brain can lead to a stroke. In Orphanet 136
individuals with CADASIL, a stroke can occur at any time from childhood to late db key
adulthood, but typically happens during mid-adulthood. People with CADASIL SNOMED CT 390936003
often have more than one stroke in their lifetime. Recurrent strokes can damage
the brain over time. Strokes that occur in the subcortical region of the brain,
which is involved in reasoning and memory, can cause progressive loss of
intellectual function (dementia) and changes in mood and personality.
html:p Many people with CADASIL also develop leukoencephalopathy, which is a change in
a type of brain tissue called white matter that can be seen with magnetic
resonance imaging (MRI).
html:p The age at which the signs and symptoms of CADASIL first begin varies greatly
among affected individuals, as does the severity of these features.
html:p CADASIL is not associated with the common risk factors for stroke and heart
attack, such as high blood pressure and high cholesterol, although some affected
individuals might also have these health problems.
related-gene-list
Cerebral autosomal recessive arteriopathy with subcortical infarcts and https://ghr.nlm.nih.gov/condition/cerebral-autosomal-recessive-arteriopathy-with CARASIL appears to be a rare condition. It has been identified in about 50 html:p Cerebral autosomal recessive arteriopathy with subcortical infarcts and ar autosomal recessive HTRA1 https://ghr.nlm.nih.gov/gene/HTRA1 CARASIL db key 2011-04 2017-12-29
leukoencephalopathy -subcortical-infarcts-and-leukoencephalopathy people, primarily in Japan and China. leukoencephalopathy, commonly known as CARASIL, is an inherited condition that familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia GTR C1838577
causes stroke and other impairments. and lumbago without arterial hypertension db key
html:p Abnormalities affecting the brain and other parts of the nervous system become Maeda syndrome GeneReviews carasil
apparent in an affected person's twenties or thirties. Often, muscle stiffness Nemoto disease db key
(spasticity) in the legs and problems with walking are the first signs of the MeSH D002539
disorder. About half of affected individuals have a stroke or similar episode db key
before age 40. As the disease progresses, most people with CARASIL also develop OMIM 600142
mood and personality changes, a decline in thinking ability (dementia), memory db key
loss, and worsening problems with movement. Orphanet 199354
html:p Other characteristic features of CARASIL include premature hair loss (alopecia) db key
and attacks of low back pain. The hair loss often begins during adolescence and SNOMED CT 703219008
is limited to the scalp. Back pain, which develops in early to mid-adulthood,
results from the breakdown (degeneration) of the discs that separate the bones
of the spine (vertebrae) from one another.
html:p The signs and symptoms of CARASIL worsen slowly with time. Over the course of
several years, affected individuals become less able to control their emotions
and communicate with others. They increasingly require help with personal care
and other activities of daily living; after a few years, they become unable to
care for themselves. Most affected individuals die within a decade after signs
and symptoms first appear, although few people with the disease have survived
for 20 to 30 years.
related-gene-list
Cerebral cavernous malformation https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation Cerebral cavernous malformations affect about 0.5 percent of the population html:p Cerebral cavernous malformations are collections of small blood vessels ad autosomal dominant CCM2 https://ghr.nlm.nih.gov/gene/CCM2 CCM db key 2012-11 2017-12-29
腦海綿狀血管瘤 worldwide. (capillaries) in the brain that are enlarged and irregular in structure. These related-gene gene-symbol ghr-page central nervous system cavernous hemangioma GTR C1366911
capillaries have abnormally thin walls, and they lack other support tissues, KRIT1 https://ghr.nlm.nih.gov/gene/KRIT1 cerebral cavernous hemangioma db key
such as elastic fibers, which normally make them stretchy. As a result, the related-gene gene-symbol ghr-page familial cavernous hemangioma GTR C1861784
blood vessels are prone to leakage, which can cause the health problems related PDCD10 https://ghr.nlm.nih.gov/gene/PDCD10 familial cavernous malformation db key
to this condition. Cavernous malformations can occur anywhere in the body, but familial cerebral cavernous angioma GTR C1864040
usually produce serious signs and symptoms only when they occur in the brain and familial cerebral cavernous malformation db key
spinal cord (which are described as cerebral). intracerebral cavernous hemangioma GTR C1864041
html:p Approximately 25 percent of individuals with cerebral cavernous malformations db key
never experience any related health problems. Other people with this condition GeneReviews ccm
may experience serious signs and symptoms such as headaches, seizures, db key
paralysis, hearing or vision loss, and bleeding in the brain (cerebral MeSH D020786
hemorrhage). Severe brain hemorrhages can result in death. The location and db key
number of cerebral cavernous malformations determine the severity of this OMIM 116860
disorder. These malformations can change in size and number over time. db key
html:p There are two forms of the condition: familial and sporadic. The familial form Orphanet 164
is passed from parent to child, and affected individuals typically have multiple db key
cerebral cavernous malformations. The sporadic form occurs in people with no SNOMED CT 444869007
family history of the disorder. These individuals typically have only one
malformation.
Cerebral Creatine Deficiency Syndrome 2, CCDS2
先天性腦部肌酸缺乏症候群第二型
related-gene-list
Cerebral folate transport deficiency https://ghr.nlm.nih.gov/condition/cerebral-folate-transport-deficiency The prevalence of cerebral folate transport deficiency is unknown. Fewer html:p Cerebral folate transport deficiency is a disorder that develops from a shortage ar autosomal recessive FOLR1 https://ghr.nlm.nih.gov/gene/FOLR1 cerebral folate deficiency db key 2014-09 2017-12-29
than 20 affected individuals have been described in the scientific literature. (deficiency) of the B-vitamin folate (also called vitamin B9) in the brain. FOLR1 deficiency GTR C2751584
Affected children have normal development during infancy, but around age 2 they neurodegeneration due to cerebral folate transport deficiency db key
begin to lose previously acquired mental and movement abilities (psychomotor MeSH D019150
regression). They develop intellectual disability, speech difficulties, and db key
recurrent seizures (epilepsy). Movement problems such as tremors and difficulty OMIM 613068
coordinating movements (ataxia) can be severe, and some affected individuals db key
need wheelchair assistance. Affected individuals have leukodystrophy, which is a Orphanet 217382
loss of a type of brain tissue known as white matter. White matter consists of db key
nerve fibers covered by a fatty substance called myelin that promotes the rapid SNOMED CT 711403001
transmission of nerve impulses. Leukodystrophy contributes to the neurological
problems that occur in cerebral folate transport deficiency. Without treatment,
these neurological problems worsen over time.
related-gene-list
Cerebrotendinous xanthomatosis, CTX https://ghr.nlm.nih.gov/condition/cerebrotendinous-xanthomatosis The incidence of cerebrotendinous xanthomatosis is estimated to be 1 per html:p Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage ar autosomal recessive CYP27A1 https://ghr.nlm.nih.gov/gene/CYP27A1 cerebral cholesterinosis db key 2016-09 2017-12-29
腦腱性黃瘤症 million individuals worldwide. This condition is more common in the Moroccan of fats (lipids) in many areas of the body. People with this disorder cannot cerebrotendinous cholesterinosis GTR C0238052
Jewish population with an incidence of 1 in 108 individuals. break down certain lipids effectively, specifically different forms of cholestanol storage disease db key
cholesterol, so these fats accumulate in the body in the form of fatty yellow cholestanolosis GeneReviews ctx
nodules called xanthomas. These xanthomas are most commonly found in the brain CTX db key
and in connective tissue called tendons that attach muscle to bone, which is Van Bogaert-Scherer-Epstein disease ICD-10-CM E75.5
reflected in the condition name (cerebro- meaning brain and -tendinous referring db key
to tendons). MeSH D019294
html:p People with cerebrotendinous xanthomatosis often develop neurological problems db key
in early adulthood that are thought to be caused by an abnormal accumulation of OMIM 213700
fats and an increasing number of xanthomas in the brain. These neurological db key
problems include recurrent seizures (epilepsy), movement disorders, impaired Orphanet 909
speech (dysarthria), loss of sensation in the arms and legs (peripheral db key
neuropathy), decline in intellectual function (dementia), hallucinations, and SNOMED CT 63246000
depression. Xanthomas can accumulate in the fatty substance that insulates and
protects nerves (myelin), causing the destruction of myelin and disrupting nerve
signaling in the brain. Degeneration (atrophy) of brain tissue caused by excess
lipid deposits also contributes to the neurological problems.
html:p Xanthomas in the tendons begin to form in early adulthood. The most common areas
for xanthomas to develop are tendons in the hands, elbows, knees, neck, and in
the Achilles tendon, which connects the heel of the foot to the calf muscles in
the leg. Tendon xanthomas may cause discomfort and interfere with tendon
flexibility. While many affected people develop tendon xanthomas, these nodules
may not be easily visible underneath the skin.
html:p Other features of cerebrotendinous xanthomatosis include clouding of the lenses
of the eyes (cataracts) and chronic diarrhea in childhood; a reduced ability to
produce and release a digestive fluid called bile (cholestasis), which can lead
to a yellowing of the skin or whites of the eyes (jaundice); and progressively
brittle bones that are prone to fracture (osteoporosis). People with
cerebrotendinous xanthomatosis are also at an increased risk of developing
cardiovascular disease or respiratory failure because of lipid accumulation in
the heart or lungs, respectively. If untreated, the signs and symptoms related
to cerebrotendinous xanthomatosis worsen over time; however, this condition
varies greatly among those who are affected.
related-gene-list
Chanarin-Dorfman syndrome https://ghr.nlm.nih.gov/condition/chanarin-dorfman-syndrome Chanarin-Dorfman syndrome is a rare condition; its incidence is unknown. html:p Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored ar autosomal recessive ABHD5 https://ghr.nlm.nih.gov/gene/ABHD5 CDS db key 2008-11 2017-12-29
abnormally in the body. Affected individuals cannot break down certain fats Chanarin-Dorfman disease GTR C0268238
called triglycerides, and these fats accumulate in organs and tissues, including Ichthyotic neutral lipid storage disease db key
skin, liver, muscles, intestine, eyes, and ears. People with this condition neutral lipid storage disease with ichthyosis MeSH D008052
also have dry, scaly skin (ichthyosis), which is usually present at birth. Triglyceride storage disease with ichthyosis db key
Additional features of this condition include an enlarged liver (hepatomegaly), triglyceride storage disease with impaired long-chain fatty acid oxidation OMIM 275630
clouding of the lens of the eyes (cataracts), difficulty with coordinating db key
movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), Orphanet 165
involuntary movement of the eyes (nystagmus), and mild intellectual disability. db key
html:p The signs and symptoms vary greatly among individuals with Chanarin-Dorfman SNOMED CT 19604005
syndrome. Some people may have ichthyosis only, while others may have problems
affecting many areas of the body.
related-gene-list
Char syndrome https://ghr.nlm.nih.gov/condition/char-syndrome Char syndrome is rare, although its exact incidence is unknown. Only a few html:p Char syndrome is a condition that affects the development of the face, heart, ad autosomal dominant TFAP2B https://ghr.nlm.nih.gov/gene/TFAP2B Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits db key 2008-06 2017-12-29
families with this condition have been identified worldwide. and limbs. It is characterized by a combination of three major features: a GTR C1868570
distinctive facial appearance, a heart defect called patent ductus arteriosus, db key
and hand abnormalities. GeneReviews char
html:p Most people with Char syndrome have a characteristic facial appearance that db key
includes flattened cheek bones and a flat nasal bridge (the area of the nose MeSH D000015
between the eyes). The tip of the nose is also flat and broad. The eyes are db key
wide-set with droopy eyelids (ptosis) and outside corners that point downward MeSH D004374
(down-slanting palpebral fissures). Additional facial differences include a db key
shortened distance between the nose and upper lip (a short philtrum), a OMIM 169100
triangular-shaped mouth, and thick, prominent lips. db key
html:p Patent ductus arteriosus is a common heart defect in newborns, and it occurs in Orphanet 46627
most babies with Char syndrome. Before birth, the ductus arteriosus forms a db key
connection between two major arteries (the aorta and the pulmonary artery). SNOMED CT 703534001
This connection normally closes shortly after birth, but it remains open in
babies with patent ductus arteriosus. If untreated, this heart defect causes
infants to breathe rapidly, feed poorly, and gain weight slowly. In severe
cases, it can lead to heart failure. People with patent ductus arteriosus also
have an increased risk of infection.
html:p Hand abnormalities are another feature of Char syndrome. In most people with
this condition, the middle section of the fifth (pinky) finger is shortened or
absent. Other abnormalities of the hands and feet have been reported but are
less common.
related-gene-list
Charcot-Marie-Tooth disease https://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease Charcot-Marie-Tooth disease is the most common inherited disorder that html:p Charcot-Marie-Tooth disease is a group of progressive disorders that affect the ad autosomal dominant AARS https://ghr.nlm.nih.gov/gene/AARS Charcot-Marie-Tooth hereditary neuropathy db key 2015-12 2017-12-29
Charcot Maire Tooth 氏症 involves the peripheral nerves, affecting an estimated 150,000 people in the peripheral nerves. Peripheral nerves connect the brain and spinal cord to code memo related-gene gene-symbol ghr-page Charcot-Marie-Tooth syndrome GTR C0007959
腓骨肌萎縮症第二型 United States. It occurs in populations worldwide with a prevalence of about 1 muscles and to sensory cells that detect sensations such as touch, pain, heat, ar autosomal recessive AIFM1 https://ghr.nlm.nih.gov/gene/AIFM1 CMT db key
恰克-馬利-杜斯氏症 in 2,500 individuals. and sound. Damage to the peripheral nerves can result in loss of sensation and code memo related-gene gene-symbol ghr-page hereditary motor and sensory neuropathy GTR C0011195
wasting (atrophy) of muscles in the feet, legs, and hands. xd X-linked dominant BSCL2 https://ghr.nlm.nih.gov/gene/BSCL2 HMSN db key
html:p Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early related-gene gene-symbol ghr-page peroneal muscular atrophy GTR C0205713
adulthood, but onset may occur anytime from early childhood through late DHTKD1 https://ghr.nlm.nih.gov/gene/DHTKD1 PMA db key
adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity, even among related-gene gene-symbol ghr-page GTR C0270911
members of the same family. Some people never realize they have the disorder, DNM2 https://ghr.nlm.nih.gov/gene/DNM2 db key
but most have a moderate amount of physical disability. A small percentage of related-gene gene-symbol ghr-page GTR C0270912
people experience severe weakness or other problems which, in rare cases, can be DYNC1H1 https://ghr.nlm.nih.gov/gene/DYNC1H1 db key
life-threatening. In most affected individuals, however, Charcot-Marie-Tooth related-gene gene-symbol ghr-page GTR C0270913
disease does not affect life expectancy. EGR2 https://ghr.nlm.nih.gov/gene/EGR2 db key
html:p Typically, the earliest symptoms of Charcot-Marie-Tooth disease involve balance related-gene gene-symbol ghr-page GTR C0393808
difficulties, clumsiness, and muscle weakness in the feet. Affected individuals FGD4 https://ghr.nlm.nih.gov/gene/FGD4 db key
may have foot abnormalities such as high arches (pes cavus), flat feet (pes related-gene gene-symbol ghr-page GTR C0393818
planus), or curled toes (hammer toes). They often have difficulty flexing the FIG4 https://ghr.nlm.nih.gov/gene/FIG4 db key
foot or walking on the heel of the foot. These difficulties may cause a higher related-gene gene-symbol ghr-page GTR C0751036
than normal step (or gait) and increase the risk of ankle injuries and tripping. GARS https://ghr.nlm.nih.gov/gene/GARS db key
html:p As the disease progresses, muscles in the lower legs usually weaken, but leg and related-gene gene-symbol ghr-page GTR C1832274
foot problems rarely require the use of a wheelchair. Affected individuals may GDAP1 https://ghr.nlm.nih.gov/gene/GDAP1 db key
also develop weakness in the hands, causing difficulty with daily activities related-gene gene-symbol ghr-page GTR C1832334
such as writing, fastening buttons, and turning doorknobs. People with this GJB1 https://ghr.nlm.nih.gov/gene/GJB1 db key
disorder typically experience a decreased sensitivity to touch, heat, and cold related-gene gene-symbol ghr-page GTR C1832399
in the feet and lower legs, but occasionally feel aching or burning sensations. HSPB1 https://ghr.nlm.nih.gov/gene/HSPB1 db key
In some cases, affected individuals experience gradual hearing loss, deafness, related-gene gene-symbol ghr-page GTR C1833219
or loss of vision. HSPB8 https://ghr.nlm.nih.gov/gene/HSPB8 db key
html:p There are several types of Charcot-Marie-Tooth disease. Type 1 related-gene gene-symbol ghr-page GTR C1836336
Charcot-Marie-Tooth disease (CMT1) is characterized by abnormalities in myelin, INF2 https://ghr.nlm.nih.gov/gene/INF2 db key
the fatty substance that covers nerve cells, protecting them and helping to related-gene gene-symbol ghr-page GTR C1836485
conduct nerve impulses. These abnormalities slow the transmission of nerve KARS https://ghr.nlm.nih.gov/gene/KARS db key
impulses. Type 2 Charcot-Marie-Tooth disease (CMT2) is characterized by related-gene gene-symbol ghr-page GTR C1837552
abnormalities in the fiber, or axon, that extends from a nerve cell body and KIF1B https://ghr.nlm.nih.gov/gene/KIF1B db key
transmits nerve impulses. These abnormalities reduce the strength of the nerve related-gene gene-symbol ghr-page GTR C1839566
impulse. Type 4 Charcot-Marie-Tooth disease (CMT4) affects either the axon or LITAF https://ghr.nlm.nih.gov/gene/LITAF db key
myelin and is distinguished from the other types by its pattern of inheritance. related-gene gene-symbol ghr-page GTR C1842197
In intermediate forms of Charcot-Marie-Tooth disease, the nerve impulses are LMNA https://ghr.nlm.nih.gov/gene/LMNA db key
both slowed and reduced in strength, probably due to abnormalities in both axons related-gene gene-symbol ghr-page GTR C1842237
and myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in LRSAM1 https://ghr.nlm.nih.gov/gene/LRSAM1 db key
a gene on the X chromosome, one of the two sex chromosomes. Within the various related-gene gene-symbol ghr-page GTR C1842983
types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, MED25 https://ghr.nlm.nih.gov/gene/MED25 db key
CMT4A, and CMTX1) are distinguished by the specific gene that is altered. related-gene gene-symbol ghr-page GTR C1843075
html:p Sometimes other, more historical names are used to describe this disorder. For MFN2 https://ghr.nlm.nih.gov/gene/MFN2 db key
example, Roussy-Levy syndrome is a form of Charcot-Marie-Tooth disease defined related-gene gene-symbol ghr-page GTR C1843153
by the additional feature of rhythmic shaking (tremors). Dejerine-Sottas MPZ https://ghr.nlm.nih.gov/gene/MPZ db key
syndrome is a term sometimes used to describe a severe, early childhood form of related-gene gene-symbol ghr-page GTR C1843164
Charcot-Marie-Tooth disease; it is also sometimes called Charcot-Marie-Tooth MTMR2 https://ghr.nlm.nih.gov/gene/MTMR2 db key
disease type 3 (CMT3). Depending on the specific gene that is altered, this related-gene gene-symbol ghr-page GTR C1843183
severe, early onset form of the disorder may also be classified as CMT1 or CMT4. NDRG1 https://ghr.nlm.nih.gov/gene/NDRG1 db key
CMTX5 is also known as Rosenberg-Chutorian syndrome. Some researchers believe related-gene gene-symbol ghr-page GTR C1843225
that this condition is not actually a form of Charcot-Marie-Tooth disease. NEFL https://ghr.nlm.nih.gov/gene/NEFL db key
Instead, they classify it as a separate disorder characterized by peripheral related-gene gene-symbol ghr-page GTR C1843247
nerve problems, deafness, and vision loss. PMP22 https://ghr.nlm.nih.gov/gene/PMP22 db key
related-gene gene-symbol ghr-page GTR C1843251
PRPS1 https://ghr.nlm.nih.gov/gene/PRPS1 db key
related-gene gene-symbol ghr-page GTR C1847823
PRX https://ghr.nlm.nih.gov/gene/PRX db key
related-gene gene-symbol ghr-page GTR C1847902
RAB7A https://ghr.nlm.nih.gov/gene/RAB7A db key
related-gene gene-symbol ghr-page GTR C1854150
SBF2 https://ghr.nlm.nih.gov/gene/SBF2 db key
related-gene gene-symbol ghr-page GTR C1854154
SH3TC2 https://ghr.nlm.nih.gov/gene/SH3TC2 db key
related-gene gene-symbol ghr-page GTR C1858278
TRPV4 https://ghr.nlm.nih.gov/gene/TRPV4 db key
related-gene gene-symbol ghr-page GTR C1859198
YARS https://ghr.nlm.nih.gov/gene/YARS db key
GTR C1861669
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GTR C1861678
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GTR C1866636
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GTR C1970011
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GTR C2079540
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GTR C2750090
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GTR C3280220
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GTR C3280797
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GTR C3280845
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GeneReviews cmt
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GeneReviews cmt-4a
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GeneReviews cmt-dib
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GeneReviews cmt1
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GeneReviews cmt2
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GeneReviews cmt2a
db key
GeneReviews cmt2c
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GeneReviews cmt2d
db key
GeneReviews cmt2e
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GeneReviews cmt4
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GeneReviews cmt4c
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GeneReviews cmtx
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GeneReviews cmtx5
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ICD-10-CM G60.0
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MeSH D002607
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OMIM 118200
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OMIM 118210
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OMIM 118220
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OMIM 118300
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OMIM 145900
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OMIM 180800
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OMIM 214400
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OMIM 302800
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OMIM 311070
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OMIM 600882
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OMIM 601098
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OMIM 601382
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OMIM 601455
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OMIM 601472
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OMIM 601596
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OMIM 604563
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OMIM 605253
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OMIM 605588
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OMIM 605589
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OMIM 606071
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OMIM 606482
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OMIM 606595
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OMIM 607677
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OMIM 607678
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OMIM 607684
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OMIM 607706
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OMIM 607734
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OMIM 607736
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OMIM 607791
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OMIM 607831
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OMIM 608323
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OMIM 608340
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OMIM 608673
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OMIM 609260
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OMIM 609311
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OMIM 611228
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OMIM 613287
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OMIM 614228
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OMIM 614436
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OMIM 614455
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Orphanet 166
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Orphanet 101081
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Orphanet 101082
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Orphanet 101084
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Orphanet 101097
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Orphanet 64746
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Orphanet 64748
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Orphanet 64748
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Orphanet 65753
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Orphanet 90658
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Orphanet 98856
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Orphanet 99937
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Orphanet 99942
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Orphanet 99945
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SNOMED CT 398100001
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related-gene-list SNOMED CT 45853006
CHARGE syndrome https://ghr.nlm.nih.gov/condition/charge-syndrome CHARGE syndrome occurs in approximately 1 in 8,500 to 10,000 newborns. html:p CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an ad autosomal dominant CHD7 https://ghr.nlm.nih.gov/gene/CHD7 CHARGE association db key 2017-02 2017-12-29
CHARGE 联合征 abbreviation for several of the features common in the disorder: coloboma, heart Hall-Hittner syndrome GTR C0265354
CHARGE聯合畸形 defects, atresia choanae (also known as choanal atresia), growth retardation, db key
CHARGE症候群 genital abnormalities, and ear abnormalities. The pattern of malformations GeneReviews charge
varies among individuals with this disorder, and the multiple health problems db key
can be life-threatening in infancy. Affected individuals usually have several MeSH D058747
major characteristics or a combination of major and minor characteristics. db key
html:p The major characteristics of CHARGE syndrome are common in this disorder and OMIM 214800
occur less frequently in other disorders. Most individuals with CHARGE syndrome db key
have a gap or hole in one of the structures of the eye (coloboma), which forms Orphanet 138
during early development. A coloboma may be present in one or both eyes and may db key
impair a person's vision, depending on its size and location. Some affected SNOMED CT 47535005
individuals also have abnormally small or underdeveloped eyes (microphthalmia).
In many people with CHARGE syndrome, one or both nasal passages are narrowed
(choanal stenosis) or completely blocked (choanal atresia), which can cause
difficulty breathing. Affected individuals frequently have cranial nerve
abnormalities. The cranial nerves emerge directly from the brain and extend to
various areas of the head and neck, controlling muscle movement and transmitting
sensory information. Abnormal function of certain cranial nerves can cause
swallowing problems, facial paralysis, a sense of smell that is diminished
(hyposmia) or completely absent (anosmia), and mild to profound hearing loss.
People with CHARGE syndrome also typically have middle and inner ear
abnormalities, which can contribute to hearing problems, and unusually shaped
external ears.
html:p While the minor characteristics of CHARGE syndrome are common in this disorder,
they are also frequently present in people without the disorder. The minor
characteristics include heart defects; slow growth starting in late infancy;
delayed development of motor skills, such as sitting unsupported and walking;
and an opening in the lip (cleft lip) with or without an opening in the roof of
the mouth (cleft palate). Affected individuals frequently have hypogonadotropic
hypogonadism, which affects the production of hormones that direct sexual
development. As a result, males with CHARGE syndrome are often born with an
unusually small penis (micropenis) and undescended testes (cryptorchidism).
Abnormalities of external genitalia are seen less often in affected females.
Puberty can be incomplete or delayed in affected males and females. Another
minor feature of CHARGE syndrome is tracheoesophageal fistula, which is an
abnormal connection (fistula) between the esophagus and the trachea. Most people
with CHARGE syndrome also have distinctive facial features, including a
square-shaped face and differences in appearance between the right and left
sides of the face (facial asymmetry). Affected individuals have a wide range of
cognitive function, from normal intelligence to major learning disabilities with
absent speech and poor communication.
html:p Less common features of CHARGE syndrome include kidney abnormalities; immune
system problems; abnormal curvature of the spine (scoliosis or kyphosis); and
limb abnormalities, such as extra fingers or toes (polydactyly), missing fingers
or toes (oligodactyly), an inward and upward turning foot (club foot), and
abnormalities of the long bones of the arms and legs.
inheritance-pattern-list
CHD2 myoclonic encephalopathy https://ghr.nlm.nih.gov/condition/chd2-myoclonic-encephalopathy The prevalence of CHD2 myoclonic encephalopathy is unknown; at least 32 html:p html:i ad related-gene ghr-page synonym CHD2 encephalopathy db-key db key 2016-12 2017-12-29
cases have been described in the scientific literature. CHD2 https://ghr.nlm.nih.gov/gene/CHD2 synonym CHD2-related neurodevelopmental disorders GTR C3809278
db-key db key
GeneReviews chd2-dis
db-key db key
MeSH D004831
db-key db key
OMIM 615369
db-key db key
myoclonic encephalopathy have photosensitive epilepsy, in which seizures are SNOMED CT 192845009
html:i myoclonic encephalopathy experience a type of seizure called
CHD2 atonic-myoclonic-absence seizure, which begins with a drop of the head, followed
by loss of consciousness, then rigid movements of the arms. Epilepsy can
worsen, causing prolonged episodes of seizure activity that last several
html:i myoclonic encephalopathy are called refractory because they usually do not
CHD2 respond to therapy with anti-epileptic medications.
html:p html:i
CHD2
myoclonic encephalopathy have autism spectrum disorders, which are conditions
characterized by impaired communication and social interaction. In some
instances, areas with a loss of brain tissue (atrophy) have been found with
medical imaging.
related-gene-list
Chediak-Higashi syndrome https://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome Chediak-Higashi syndrome is a rare disorder. About 200 cases of the html:p Chediak-Higashi syndrome is a condition that affects many parts of the body, ar autosomal recessive LYST https://ghr.nlm.nih.gov/gene/LYST Chediak-Steinbrinck-Higashi syndrome db key 2014-01 2017-12-29
先天性白細胞顆粒異常症候群 condition have been reported worldwide. particularly the immune system. This disease damages immune system cells, CHS GTR C0007965
白細胞異常色素減退症候群 leaving them less able to fight off invaders such as viruses and bacteria. As a oculocutaneous albinism with leukocyte defect db key
result, most people with Chediak-Higashi syndrome have repeated and persistent GeneReviews chediak-higashi
infections starting in infancy or early childhood. These infections tend to be db key
very serious or life-threatening. ICD-10-CM E70.330
html:p Chediak-Higashi syndrome is also characterized by a condition called db key
oculocutaneous albinism, which causes abnormally light coloring (pigmentation) MeSH D002609
of the skin, hair, and eyes. Affected individuals typically have fair skin and db key
light-colored hair, often with a metallic sheen. Oculocutaneous albinism also OMIM 214500
causes vision problems such as reduced sharpness; rapid, involuntary eye db key
movements (nystagmus); and increased sensitivity to light (photophobia). Orphanet 167
html:p Many people with Chediak-Higashi syndrome have problems with blood clotting db key
(coagulation) that lead to easy bruising and abnormal bleeding. In adulthood, SNOMED CT 111396008
Chediak-Higashi syndrome can also affect the nervous system, causing weakness,
clumsiness, difficulty with walking, and seizures.
html:p If the disease is not successfully treated, most children with Chediak-Higashi
syndrome reach a stage of the disorder known as the accelerated phase. This
severe phase of the disease is thought to be triggered by a viral infection. In
the accelerated phase, white blood cells (which normally help fight infection)
divide uncontrollably and invade many of the body's organs. The accelerated
phase is associated with fever, episodes of abnormal bleeding, overwhelming
infections, and organ failure. These medical problems are usually
life-threatening in childhood.
html:p A small percentage of people with Chediak-Higashi syndrome have a milder form of
the condition that appears later in life. People with the adult form of the
disorder have less noticeable changes in pigmentation and are less likely to
have recurrent, severe infections. They do, however, have a significant risk of
progressive neurological problems such as tremors, difficulty with movement and
balance (ataxia), reduced sensation and weakness in the arms and legs
(peripheral neuropathy), and a decline in intellectual functioning.
related-gene-list
Cherubism https://ghr.nlm.nih.gov/condition/cherubism The incidence of cherubism is unknown. At least 250 cases have been html:p Cherubism is a disorder characterized by abnormal bone tissue in the lower part ad autosomal dominant SH3BP2 https://ghr.nlm.nih.gov/gene/SH3BP2 Familial benign giant-cell tumor of the jaw db key 2007-04 2017-12-29
reported worldwide. of the face. Beginning in early childhood, both the lower jaw (the mandible) Familial fibrous dysplasia of jaw GTR C0008029
and the upper jaw (the maxilla) become enlarged as bone is replaced with Familial multilocular cystic disease of the jaws db key
painless, cyst-like growths. These growths give the cheeks a swollen, rounded GeneReviews cherubism
appearance and often interfere with normal tooth development. In some people db key
the condition is so mild that it may not be noticeable, while other cases are MeSH D002636
severe enough to cause problems with vision, breathing, speech, and swallowing. db key
Enlargement of the jaw usually continues throughout childhood and stabilizes OMIM 118400
during puberty. The abnormal growths are gradually replaced with normal bone in db key
early adulthood. As a result, many affected adults have a normal facial Orphanet 184
appearance. db key
html:p Most people with cherubism have few, if any, signs and symptoms affecting other SNOMED CT 76098004
parts of the body. Rarely, however, this condition occurs as part of another
genetic disorder. For example, cherubism can occur with Ramon syndrome, which
also involves short stature, intellectual disability, and overgrowth of the gums
(gingival fibrosis). Additionally, cherubism has been reported in rare cases
of Noonan syndrome (a developmental disorder characterized by unusual facial
characteristics, short stature, and heart defects) and fragile X syndrome (a
condition primarily affecting males that causes learning disabilities and
cognitive impairment).
inheritance-pattern-list related-gene-list
Childhood myocerebrohepatopathy spectrum https://ghr.nlm.nih.gov/condition/childhood-myocerebrohepatopathy-spectrum The prevalence of childhood myocerebrohepatopathy spectrum is unknown. html:p Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a ar autosomal recessive POLG synonym db-key db key 2011-06 2017-12-29
html:i GTR C0205710
POLG db-key db key
GeneReviews alpers
db-key db key
MeSH D028361
html:p Common signs and symptoms of MCHS include muscle weakness (myopathy), db-key db key
developmental delay or a deterioration of intellectual function, and liver SNOMED CT 702366001
disease. Another possible sign of this condition is a toxic buildup of lactic
acid in the body (lactic acidosis). Often, affected children are unable to gain
weight and grow at the expected rate (failure to thrive).
html:p Additional signs and symptoms of MCHS can include a form of kidney disease
called renal tubular acidosis, inflammation of the pancreas (pancreatitis),
recurrent episodes of nausea and vomiting (cyclic vomiting), or hearing loss.
inheritance-pattern-list related-gene-list
CHMP2B-related frontotemporal dementia https://ghr.nlm.nih.gov/condition/chmp2b-related-frontotemporal-dementia CHMP2B-related frontotemporal dementia has been reported in one large html:p html:i ad autosomal dominant CHMP2B synonym db-key db key 2010-08 2017-12-29
family in Denmark and a few unrelated individuals from other countries. This CHMP2B synonym GTR C1833296
disease appears to be a rare form of frontotemporal dementia. synonym db-key db key
synonym GeneReviews ftd-chmp2b
html:p html:i synonym db-key db key
CHMP2B MeSH D057180
db-key db key
OMIM 600795
db-key db key
Orphanet 282
db-key db key
html:p html:i SNOMED CT 702393003
CHMP2B
html:p html:i
CHMP2B
related-gene-list
Cholangiocarcinoma https://ghr.nlm.nih.gov/condition/cholangiocarcinoma Cholangiocarcinoma affects 2,000 to 3,000 people each year in the United html:p Cholangiocarcinoma is a group of cancers that begin in the bile ducts. Bile n not inherited ARID1A https://ghr.nlm.nih.gov/gene/ARID1A CC db key 2016-08 2017-12-29
膽管癌 States. This type of cancer occurs much more frequently in Southeast Asian ducts are branched tubes that connect the liver and gallbladder to the small code memo related-gene gene-symbol ghr-page cholangiocarcinoma of biliary tract GTR C3810156
countries such as Thailand, where it is related to infection with a parasite intestine. They carry bile, which is a fluid that helps the body digest the fats u pattern unknown BAP1 https://ghr.nlm.nih.gov/gene/BAP1 cholangiocellular carcinoma db key
that is common there. For unknown reasons, cholangiocarcinoma occurs slightly in food. Bile is produced in the liver and stored in the gallbladder before related-gene gene-symbol ghr-page extrahepatic cholangiocarcinoma ICD-10-CM C22.1
more often in men than in women. being released in the small intestine after a person eats. BRAF https://ghr.nlm.nih.gov/gene/BRAF intrahepatic cholangiocarcinoma db key
html:p Cholangiocarcinoma is classified by its location in relation to the liver. related-gene gene-symbol ghr-page MeSH D018281
Intrahepatic cholangiocarcinoma begins in the small bile ducts within the liver. FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 db key
This is the least common form of the disease, accounting for less than 10 related-gene gene-symbol ghr-page OMIM 615619
percent of all cases. Perihilar cholangiocarcinoma (also known as a Klatskin IDH1 https://ghr.nlm.nih.gov/gene/IDH1 db key
tumor) begins in an area called the hilum, where two major bile ducts join and related-gene gene-symbol ghr-page Orphanet 70567
leave the liver. It is the most common form of the disease, accounting for more IDH2 https://ghr.nlm.nih.gov/gene/IDH2 db key
than half of all cases. The remaining cases are classified as distal related-gene gene-symbol ghr-page SNOMED CT 312104005
cholangiocarcinomas, which begin in bile ducts outside the liver. The perihilar KMT2C https://ghr.nlm.nih.gov/gene/KMT2C db key
and distal forms of the disease, which both occur outside the liver, are related-gene gene-symbol ghr-page SNOMED CT 70179006
sometimes grouped together and called extrahepatic cholangiocarcinoma. KRAS https://ghr.nlm.nih.gov/gene/KRAS
html:p The three types of cholangiocarcinoma do not usually cause any symptoms in their related-gene gene-symbol ghr-page
early stages, and this cancer is usually not diagnosed until it has already PBRM1 https://ghr.nlm.nih.gov/gene/PBRM1
spread beyond the bile ducts to other tissues. Symptoms often result when bile related-gene gene-symbol ghr-page
ducts become blocked by the tumor. The most common symptom is jaundice, which is PEG3 https://ghr.nlm.nih.gov/gene/PEG3
a yellowing of the skin and the whites of the eyes. Other symptoms can include related-gene gene-symbol ghr-page
itching, dark-colored urine, loss of appetite, unintentional weight loss, PTPN3 https://ghr.nlm.nih.gov/gene/PTPN3
abdominal pain, and light-colored and greasy stools. These symptoms are related-gene gene-symbol ghr-page
described as "nonspecific" because they can be features of many different RNF43 https://ghr.nlm.nih.gov/gene/RNF43
diseases. related-gene gene-symbol ghr-page
html:p Most people who develop cholangiocarcinoma are older than 65. Because this ROBO2 https://ghr.nlm.nih.gov/gene/ROBO2
cancer is often not discovered until it has already spread, it can be related-gene gene-symbol ghr-page
challenging to treat effectively. Affected individuals can survive for several SMAD4 https://ghr.nlm.nih.gov/gene/SMAD4
months to several years after diagnosis. related-gene gene-symbol ghr-page
TERT https://ghr.nlm.nih.gov/gene/TERT
related-gene gene-symbol ghr-page
TP53 https://ghr.nlm.nih.gov/gene/TP53
related-gene-list
CHOPS syndrome https://ghr.nlm.nih.gov/condition/chops-syndrome CHOPS syndrome is a rare disorder whose prevalence is unknown. Only a few html:p CHOPS syndrome is a disorder involving multiple abnormalities that are present ad autosomal dominant AFF4 https://ghr.nlm.nih.gov/gene/AFF4 cognitive impairment, coarse facies, heart defects, obesity, pulmonary db key 2015-11 2017-12-29
affected individuals have been described in the medical literature. from birth (congenital). The name "CHOPS" is an abbreviation for a list of involvement, short stature, and skeletal dysplasia GTR C4085597
features of the disorder including cognitive impairment, coarse facial features, db key
heart defects, obesity, lung (pulmonary) involvement, short stature, and MeSH D000015
skeletal abnormalities. db key
html:p Children with CHOPS syndrome have intellectual disability and delayed OMIM 616368
development of skills such as sitting and walking. Characteristic facial
features include a round face; thick hair; thick eyebrows that grow together in
the middle (synophrys); wide-set, bulging eyes with long eyelashes; a short
nose; and down-turned corners of the mouth.
html:p Most affected individuals are born with a heart defect called patent ductus
arteriosus (PDA). The ductus arteriosus is a connection between two major
arteries, the aorta and the pulmonary artery. This connection is open during
fetal development and normally closes shortly after birth. However, the ductus
arteriosus remains open, or patent, in babies with PDA. If untreated, this heart
defect causes infants to breathe rapidly, feed poorly, and gain weight slowly;
in severe cases, it can lead to heart failure. Multiple heart abnormalities have
sometimes been found in children with CHOPS syndrome. In addition to PDA,
affected individuals may have ventricular septal defect, which is a defect in
the muscular wall (septum) that separates the right and left sides of the
heart's lower chamber.
html:p People with CHOPS syndrome have abnormalities of the throat and airways that
cause momentary cessation of breathing while asleep (obstructive sleep apnea).
These abnormalities can also cause affected individuals to breathe food or
fluids into the lungs accidentally, which can lead to a potentially
life-threatening bacterial lung infection (aspiration pneumonia) and chronic
lung disease. Affected individuals are shorter than more than 97 percent of
their peers and are overweight for their height. They also have skeletal
differences including unusually short fingers and toes (brachydactyly) and
abnormally-shaped spinal bones (vertebrae).
html:p Other features that can occur in CHOPS syndrome include a small head size
(microcephaly); hearing loss; clouding of the lens of the eye (cataract); a
single, horseshoe-shaped kidney; and, in affected males, undescended testes
(cryptorchidism).
related-gene-list
Chordoma https://ghr.nlm.nih.gov/condition/chordoma Chordomas are rare, occurring in approximately 1 per million individuals html:p A chordoma is a rare type of cancerous tumor that can occur anywhere along the ad autosomal dominant TBXT https://ghr.nlm.nih.gov/gene/TBXT CHDM db key 2015-05 2017-12-29
脊索瘤 each year. Chordomas comprise fewer than 1 percent of tumors affecting the brain spine, from the base of the skull to the tailbone. Chordomas grow slowly, code memo chordocarcinoma GTR C0008487
(cancer) and spinal cord. gradually extending into the bone and soft tissue around them. They often recur n not inherited chordoepithelioma db key
after treatment, and in about 40 percent of cases the cancer spreads notochordal sarcoma ICD-10-CM C41.2
(metastasizes) to other areas of the body, such as the lungs. notochordoma db key
html:p Approximately half of all chordomas occur at the base of the spine (sacrum), MeSH D002817
about one third occur in the base of the skull (occiput), and the rest occur in db key
the cervical (neck), thoracic (upper back), or lumbar (lower back) vertebrae of OMIM 215400
the spine. As the chordoma grows, it puts pressure on the adjacent areas of the db key
brain or spinal cord, leading to the signs and symptoms of the disorder. A Orphanet 178
chordoma anywhere along the spine may cause pain, weakness, or numbness in the db key
back, arms, or legs. A chordoma at the base of the skull (occipital chordoma) SNOMED CT 50007008
may lead to double vision (diplopia) and headaches. A chordoma that occurs in
the tailbone (coccygeal chordoma) may result in a lump large enough to be felt
through the skin and may cause problems with bladder or bowel function.
html:p Chordomas typically occur in adults between ages 40 and 70. About 5 percent of
chordomas are diagnosed in children. For reasons that are unclear, males are
affected about twice as often as females.
related-gene-list
Chorea-acanthocytosis https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis It is estimated that 500 to 1,000 people worldwide have html:p Chorea-acanthocytosis is primarily a neurological disorder that affects movement ar autosomal recessive VPS13A https://ghr.nlm.nih.gov/gene/VPS13A CHAC db key 2017-10 2017-12-29
舞蹈病 - 棘紅細胞增多症 chorea-acanthocytosis. in many parts of the body. Chorea refers to the involuntary jerking movements choreoacanthocytosis GTR C0393576
(neurological) made by people with this disorder. People with this condition also have neuroacanthocytosis db key
abnormal star-shaped red blood cells (acanthocytosis). This condition is one of GeneReviews chac
a group of conditions called neuroacanthocytoses that involve neurological db key
problems and abnormal red blood cells. MeSH D054546
html:p In addition to chorea, another common feature of chorea-acanthocytosis is db key
involuntary tensing of various muscles (dystonia), such as those in the limbs, OMIM 200150
face, mouth, tongue, and throat. These muscle twitches can cause vocal tics db key
(such as grunting), involuntary belching, and limb spasms. Eating can also be Orphanet 2388
impaired as tongue and throat twitches can interfere with chewing and swallowing db key
food. People with chorea-acanthocytosis may uncontrollably bite their tongue, SNOMED CT 26848004
lips, and inside of the mouth. Nearly half of all people with db key
chorea-acanthocytosis have seizures. SNOMED CT 66881004
html:p Individuals with chorea-acanthocytosis may develop difficulty processing,
learning, and remembering information (cognitive impairment). They may have
reduced sensation and weakness in their arms and legs (peripheral neuropathy)
and muscle weakness (myopathy). Impaired muscle and nerve functioning commonly
cause speech difficulties in individuals with this condition, and can lead to an
inability to speak.
html:p Behavioral changes are a common feature of chorea-acanthocytosis and may be the
first sign of this condition. These behavioral changes may include changes in
personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and
the inability to take care of oneself.
html:p The signs and symptoms of chorea-acanthocytosis usually begin in early to
mid-adulthood. The movement problems of this condition worsen with age. Loss
of cells (atrophy) in certain brain regions is the major cause of the
neurological problems seen in people with chorea-acanthocytosis.
related-gene-list
Choroideremia https://ghr.nlm.nih.gov/condition/choroideremia The prevalence of choroideremia is estimated to be 1 in 50,000 to 100,000 html:p Choroideremia is a condition characterized by progressive vision loss that xr X-linked recessive CHM https://ghr.nlm.nih.gov/gene/CHM choroidal sclerosis db key 2013-07 2017-12-29
脈絡膜缺失症 people. However, it is likely that this condition is underdiagnosed because of mainly affects males. The first symptom of this condition is usually an progressive tapetochoroidal dystrophy GTR C0008525
its similarities to other eye disorders. Choroideremia is thought to account for impairment of night vision (night blindness), which can occur in early TCD db key
approximately 4 percent of all blindness. childhood. A progressive narrowing of the field of vision (tunnel vision) GeneReviews choroid
follows, as well as a decrease in the ability to see details (visual acuity). db key
These vision problems are due to an ongoing loss of cells (atrophy) in the ICD-10-CM H31.21
specialized light-sensitive tissue that lines the back of the eye (retina) and a db key
nearby network of blood vessels (the choroid). The vision impairment in MeSH D015794
choroideremia worsens over time, but the progression varies among affected db key
individuals. However, all individuals with this condition will develop OMIM 303100
blindness, most commonly in late adulthood. db key
Orphanet 180
db key
related-gene-list SNOMED CT 75241009
Christianson syndrome https://ghr.nlm.nih.gov/condition/christianson-syndrome Christianson syndrome is a rare condition, although the exact prevalence is html:p Christianson syndrome is a disorder that primarily affects the nervous system. xr X-linked recessive SLC9A6 https://ghr.nlm.nih.gov/gene/SLC9A6 Angelman-like syndrome, X-linked db key 2012-04 2017-12-29
unknown. The condition was first described in a South African family and has This condition becomes apparent in infancy. Its characteristic features include intellectual deficit, X-linked, South African type GTR C2678194
since been found people in other parts of the world. delayed development, intellectual disability, an inability to speak, problems db key
with balance and coordination (ataxia), and difficulty standing or walking. MeSH D038901
Individuals who do learn to walk lose the ability in childhood. Most affected db key
children also have recurrent seizures (epilepsy), beginning between ages 1 and OMIM 300243
2 db key
html:p Other features seen in many people with Christianson syndrome include a small Orphanet 85278
head size (microcephaly); a long, narrow face with prominent nose, jaw, and db key
ears; an open mouth and uncontrolled drooling; and abnormal eye movements. SNOMED CT 702354007
Affected children often have a happy demeanor with frequent smiling and
spontaneous laughter.
related-gene-list
Chronic atrial and intestinal dysrhythmia https://ghr.nlm.nih.gov/condition/chronic-atrial-and-intestinal-dysrhythmia The prevalence of CAID is unknown. At least 17 affected individuals have html:p Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the ar autosomal recessive SGO1 https://ghr.nlm.nih.gov/gene/SGO1 CAID db key 2015-05 2017-12-29
been described in the medical literature. heart and the digestive system. CAID disrupts the normal rhythm of the cohesinopathy affecting heart and gut rhythm GTR C4015474
heartbeat; affected individuals have a heart rhythm abnormality called sick db key
sinus syndrome. The disorder also impairs the rhythmic muscle contractions that MeSH D001145
propel food through the intestines (peristalsis), causing a digestive condition db key
called intestinal pseudo-obstruction. The heart and digestive issues develop at MeSH D007418
the same time, usually by age 20. db key
html:p Sick sinus syndrome (also known as sinus node dysfunction) is an abnormality of OMIM 616201
the sinoatrial (SA) node, which is an area of specialized cells in the heart db key
that functions as a natural pacemaker. The SA node generates electrical impulses Orphanet 435988
that start each heartbeat. These signals travel from the SA node to the rest of db key
the heart, signaling the heart (cardiac) muscle to contract and pump blood. In SNOMED CT 720507006
people with sick sinus syndrome, the SA node does not function normally, which
usually causes the heartbeat to be too slow (bradycardia), although occasionally
the heartbeat is too fast (tachycardia) or rapidly switches from being too fast
to being too slow (tachycardia-bradycardia syndrome). Symptoms related to
abnormal heartbeats can include dizziness, light-headedness, fainting (syncope),
a sensation of fluttering or pounding in the chest (palpitations), and
confusion or memory problems. During exercise, many affected individuals
experience chest pain, difficulty breathing, or excessive tiredness (fatigue).
html:p In intestinal pseudo-obstruction, impairment of peristalsis leads to a buildup
of partially digested food in the intestines, abdominal swelling (distention)
and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals
experience loss of appetite and impaired ability to absorb nutrients, which may
lead to malnutrition. These symptoms resemble those caused by an intestinal
blockage (obstruction) such as a tumor, but in intestinal pseudo-obstruction no
such blockage is found.
related-gene-list
Chronic granulomatous disease, CGD https://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease Chronic granulomatous disease is estimated to occur in 1 in 200,000 to html:p Chronic granulomatous disease is a disorder that causes the immune system to ar autosomal recessive CYBA https://ghr.nlm.nih.gov/gene/CYBA autosomal recessive chronic granulomatous disease db key 2016-01 2017-12-29
特发性慢性肉芽肿病 250,000 people worldwide. malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are code memo related-gene gene-symbol ghr-page CGD GTR C1844376
慢性肉芽腫病 conditions in which the immune system is not able to protect the body from xr X-linked recessive CYBB https://ghr.nlm.nih.gov/gene/CYBB granulomatous disease, chronic db key
foreign invaders such as bacteria and fungi. Individuals with chronic related-gene gene-symbol ghr-page X-linked chronic granulomatous disease GTR C1856245
granulomatous disease may have recurrent bacterial and fungal infections. People NCF1 https://ghr.nlm.nih.gov/gene/NCF1 db key
with this condition may also have areas of inflammation (granulomas) in various related-gene gene-symbol ghr-page GTR C1856251
tissues that can result in damage to those tissues. The features of chronic NCF2 https://ghr.nlm.nih.gov/gene/NCF2 db key
granulomatous disease usually first appear in childhood, although some related-gene gene-symbol ghr-page GTR C1856255
individuals do not show symptoms until later in life. NCF4 https://ghr.nlm.nih.gov/gene/NCF4 db key
html:p People with chronic granulomatous disease typically have at least one serious GTR C3151409
bacterial or fungal infection every 3 to 4 years. The lungs are the most db key
frequent area of infection; pneumonia is a common feature of this condition. GeneReviews cgd
Individuals with chronic granulomatous disease may develop a type of fungal db key
pneumonia, called mulch pneumonitis, which causes fever and shortness of breath ICD-10-CM D71
after exposure to decaying organic materials such as mulch, hay, or dead leaves. db key
Exposure to these organic materials and the numerous fungi involved in their MeSH D006105
decomposition causes people with chronic granulomatous disease to develop fungal db key
infections in their lungs. Other common areas of infection in people with OMIM 233690
chronic granulomatous disease include the skin, liver, and lymph nodes. db key
html:p Inflammation can occur in many different areas of the body in people with OMIM 233700
chronic granulomatous disease. Most commonly, granulomas occur in the db key
gastrointestinal tract and the genitourinary tract. In many cases the intestinal OMIM 233710
wall is inflamed, causing a form of inflammatory bowel disease that varies in db key
severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and OMIM 306400
vomiting. Other common areas of inflammation in people with chronic db key
granulomatous disease include the stomach, colon, and rectum, as well as the OMIM 613960
mouth, throat, and skin. Additionally, granulomas within the gastrointestinal db key
tract can lead to tissue breakdown and pus production (abscesses). Inflammation Orphanet 379
in the stomach can prevent food from passing through to the intestines (gastric db key
outlet obstruction), leading to an inability to digest food. These digestive SNOMED CT 387759001
problems cause vomiting after eating and weight loss. In the genitourinary
tract, inflammation can occur in the kidneys and bladder. Inflammation of the
lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce
immune cells, can lead to further impairment of the immune system.
html:p Rarely, people with chronic granulomatous disease develop autoimmune disorders,
which occur when the immune system malfunctions and attacks the body's own
tissues and organs.
html:p Repeated episodes of infection and inflammation reduce the life expectancy of
individuals with chronic granulomatous disease; however, with treatment, most
affected individuals live into mid- to late adulthood.
related-gene-list
Chronic myeloid leukemia https://ghr.nlm.nih.gov/condition/chronic-myeloid-leukemia Chronic myeloid leukemia occurs in about 1 in 555 individuals. It accounts html:p Chronic myeloid leukemia is a slow-growing cancer of the blood-forming tissue n not inherited ABL1 https://ghr.nlm.nih.gov/gene/ABL1 CGL db key 2016-09 2017-12-29
(Cancer) for about 10 percent of all blood cell cancers (leukemias). (bone marrow). Normal bone marrow produces red blood cells (erythrocytes) that related-gene gene-symbol ghr-page chronic granulocytic leukemia GTR C0023473
慢性骨髓性白血病 carry oxygen, white blood cells (leukocytes) that protect the body from BCR https://ghr.nlm.nih.gov/gene/BCR chronic myelocytic leukemia db key
infection, and platelets (thrombocytes) that are involved in blood clotting. In related-chromosome name ghr-page chronic myelogenous leukemia GTR C4016397
chronic myeloid leukemia, the bone marrow produces too many white blood cells. 9 https://ghr.nlm.nih.gov/chromosome/9 CML db key
Initially, these cells function relatively normally. However, as the condition related-chromosome name ghr-page ICD-10-CM C92.1
progresses, immature white blood cells called myeloblasts (or blasts) accumulate 22 https://ghr.nlm.nih.gov/chromosome/22 db key
in the blood and bone marrow. The overgrowth of myeloblasts impairs development ICD-10-CM C92.10
of other blood cells, leading to a shortage of red blood cells (anemia) and db key
platelets. ICD-10-CM C92.11
html:p Chronic myeloid leukemia usually begins after age 60. Common features include db key
excessive tiredness (fatigue), fever, and weight loss. Many affected individuals ICD-10-CM C92.12
develop an enlarged spleen (splenomegaly), which can cause a feeling of db key
fullness in the abdomen and a loss of appetite. About half of people with MeSH D015464
chronic myeloid leukemia do not initially have any signs and symptoms and are db key
diagnosed when a blood test is performed for another reason. Orphanet 521
html:p The condition consists of three phases: the chronic phase, the accelerated db key
phase, and the blast phase (or blast crisis). In the chronic phase, the number Orphanet 98824
of mature white blood cells is elevated, and myeloblasts account for less than db key
10 percent of blood cells. Signs and symptoms of the condition during this phase SNOMED CT 92818009
are typically mild or absent and worsen slowly. The chronic phase can last from
months to years. In the accelerated phase, the number of myeloblasts is
slightly higher, making up 10 to 29 percent of blood cells. The signs and
symptoms continue to worsen. The accelerated phase usually lasts 4 to 6 months,
although it is skipped in some affected individuals. In blast crisis, 30 percent
or more of blood or bone marrow cells are myeloblasts. Signs and symptoms are
most severe in this phase, including a massively enlarged spleen, bone pain, and
weight loss. Serious infections and uncontrolled bleeding can be
life-threatening.
Chronic progression external ophthalmoplegia, CPEO
慢性進行性外眼肌麻痺症
inheritance-pattern-list related-gene-list
CHST3-related skeletal dysplasia https://ghr.nlm.nih.gov/condition/chst3-related-skeletal-dysplasia The prevalence of CHST3-related skeletal dysplasia is unknown. More than 30 html:p html:i ar autosomal recessive ghr-page autosomal recessive Larsen syndrome db-key db key 2012-10 2017-12-29
affected individuals have been reported. CHST3 https://ghr.nlm.nih.gov/gene/CHST3 CDMD GTR C1840471
chondrodysplasia with multiple dislocations db-key db key
humero-spinal dysostosis GeneReviews cd-chst3
SED with luxations, CHST3 type db-key db key
SED, Omani type MeSH D010009
-related skeletal dysplasia are usually limited to the bones and joints; spondyloepiphyseal dysplasia with congenital joint dislocations db-key db key
however, minor heart defects have been reported in a few affected individuals. spondyloepiphyseal dysplasia, Omani type OMIM 143095
html:p Researchers have not settled on a preferred name for this condition. It is db-key db key
sometimes known as autosomal recessive Larsen syndrome based on its similarity Orphanet 263463
to another skeletal disorder called Larsen syndrome. Other names that have been db-key db key
used to describe the condition include spondyloepiphyseal dysplasia, Omani type; SNOMED CT 702400006
humero-spinal dysostosis; and chondrodysplasia with multiple dislocations.
html:i
CHST3 gene.
related-gene-list
Chylomicron retention disease https://ghr.nlm.nih.gov/condition/chylomicron-retention-disease Chylomicron retention disease is a rare condition with approximately 40 html:p Chylomicron retention disease is an inherited disorder that affects the ar autosomal recessive SAR1B https://ghr.nlm.nih.gov/gene/SAR1B Anderson disease db key 2008-10 2017-12-29
乳糜微粒滞留病 cases described worldwide. absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As Anderson syndrome GTR C0795956
(消化系统疾病) food is digested after a meal, molecules called chylomicrons are formed to carry CMRD db key
(Digestive system disease) fat and cholesterol from the intestine into the bloodstream. Chylomicrons are hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in ICD-10-CM E78.3
also necessary for the absorption of certain fat-soluble vitamins, such as intestinal cells db key
vitamin E and vitamin D. A lack of chylomicron transport causes severely lipid transport defect of intestine MeSH D006995
decreased absorption (malabsorption) of dietary fats and fat-soluble vitamins. db key
Sufficient levels of fats, cholesterol, and vitamins are necessary for normal OMIM 246700
growth and development. db key
html:p The signs and symptoms of chylomicron retention disease appear in the first few Orphanet 71
months of life. They can include failure to gain weight and grow at the expected db key
rate (failure to thrive); diarrhea; and fatty, foul-smelling stools SNOMED CT 702364003
(steatorrhea). Other features of this disorder may develop later in childhood
and often impair the function of the nervous system. Affected people may
eventually develop decreased reflexes (hyporeflexia) and a decreased ability to
feel vibrations.
related-gene-list
Citrullinemia https://ghr.nlm.nih.gov/condition/citrullinemia Type I citrullinemia is the most common form of the disorder, affecting html:p Citrullinemia is an inherited disorder that causes ammonia and other toxic ar autosomal recessive ASS1 https://ghr.nlm.nih.gov/gene/ASS1 CIT db key 2017-05 2017-12-29
瓜胺酸血症 about 1 in 57,000 people worldwide. Type II citrullinemia is found primarily in substances to accumulate in the blood. Two types of citrullinemia have been related-gene gene-symbol ghr-page citrullinuria GTR C0175683
(尿素循環代謝) the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 described; they have different signs and symptoms and are caused by mutations in SLC25A13 https://ghr.nlm.nih.gov/gene/SLC25A13 db key
(Urea cycle metabolism) individuals. Type II also has been reported in other populations, including different genes. GTR C1853942
other people from East Asia, the Middle East, the United States, and the United html:p Type I citrullinemia (also known as classic citrullinemia) usually becomes db key
Kingdom. evident in the first few days of life. Affected infants typically appear normal GTR C1863844
at birth, but as ammonia builds up, they experience a progressive lack of energy db key
(lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Some GeneReviews citrin
affected individuals develop serious liver problems. The health problems db key
associated with type I citrullinemia are life-threatening in many cases. Less GeneReviews ctlm
commonly, a milder form of type I citrullinemia can develop later in childhood db key
or adulthood. This later-onset form is associated with intense headaches, blind GeneReviews ucd-overview
spots (scotomas), problems with balance and muscle coordination (ataxia), and db key
lethargy. Some people with gene mutations that cause type I citrullinemia never ICD-10-CM E72.23
experience signs and symptoms of the disorder. db key
Citrullinemia Type II html:p Type II citrullinemia chiefly affects the nervous system, causing confusion, MeSH D020159
Citrin缺乏症 restlessness, memory loss, abnormal behaviors (such as aggression, irritability, db key
瓜胺酸血症第二型 and hyperactivity), seizures, and coma. Affected individuals often have OMIM 215700
specific food preferences, preferring protein-rich and fatty foods and avoiding db key
carbohydrate-rich foods. The signs and symptoms of this disorder typically OMIM 603471
appear during adulthood (adult-onset) and can be triggered by certain db key
medications, infections, surgery, and alcohol intake. These signs and symptoms OMIM 605814
can be life-threatening in people with adult-onset type II citrullinemia. db key
html:p Adult-onset type II citrullinemia may also develop in people who as infants had Orphanet 187
a liver disorder called neonatal intrahepatic cholestasis caused by citrin db key
deficiency (NICCD). This liver condition is also known as neonatal-onset type II SNOMED CT 398680004
citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the
liver) and prevents the body from processing certain nutrients properly. In
many cases, the signs and symptoms of NICCD go away within a year. In rare
cases, affected individuals develop other signs and symptoms in early childhood
after seeming to recover from NICCD, including delayed growth, extreme tiredness
(fatigue), specific food preferences (mentioned above), and abnormal amounts of
fats (lipids) in the blood (dyslipidemia). This condition is known as failure
to thrive and dyslipidemia caused by citrin deficiency (FTTDCD). Years or even
decades later, some people with NICCD or FTTDCD develop the features of
adult-onset type II citrullinemia.
inheritance-pattern-list related-gene-list
CLCN2-related leukoencephalopathy https://ghr.nlm.nih.gov/condition/clcn2-related-leukoencephalopathy The prevalence of CLCN2-related leukoencephalopathy is unknown. At least 16 html:p html:i ar autosomal recessive CLCN2 synonym db-key db key 2017-12 2017-12-29
cases have been reported in the scientific literature. CLCN2 synonym GTR C3810242
synonym db-key db key
synonym GeneReviews cc2-leuk
synonym db-key db key
MeSH D056784
db-key db key
OMIM 615651
db-key db key
Orphanet 363540
html:p Rarely, affected individuals have dizziness (vertigo), ringing in the ears
(tinnitus), hearing loss, episodes of abnormal movements (paroxysmal kinesigenic
dyskinesia), or psychiatric disorders. However, it is unclear whether these are
html:i
CLCN2
html:p html:i
CLCN2
related-gene-list
Cleidocranial dysplasia https://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia Cleidocranial dysplasia occurs in approximately 1 per million individuals html:p Cleidocranial dysplasia is a condition that primarily affects development of the ad autosomal dominant RUNX2 https://ghr.nlm.nih.gov/gene/RUNX2 cleidocranial dysostosis db key 2017-08 2017-12-29
顱骨鎖骨發育不良症 worldwide. It is likely underdiagnosed because many affected individuals have bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely dento-osseous dysplasia GTR C0008928
鎖骨顱骨發育異常 mild signs and symptoms. in severity, even within the same family. Marie-Sainton syndrome db key
html:p Individuals with cleidocranial dysplasia usually have underdeveloped or absent GeneReviews ccd
collarbones, also called clavicles ("cleido-" in the condition name refers to db key
these bones). As a result, their shoulders are narrow and sloping, can be MeSH D002973
brought unusually close together in front of the body, and in some cases can be db key
made to meet in the middle of the body. Delayed maturation of the skull OMIM 119600
(cranium) is also characteristic of this condition, including delayed closing of db key
the growth lines where the bones of the skull meet (sutures) and larger than Orphanet 1452
normal spaces (fontanelles) between the skull bones that are noticeable as "soft db key
spots" on the heads of infants. The fontanelles normally close in early SNOMED CT 65976001
childhood, but they may remain open throughout life in people with this
disorder. Some individuals with cleidocranial dysplasia have extra pieces of
bone called Wormian bones within the sutures.
html:p Affected individuals are often shorter than other members of their family at the
same age. Many also have short, tapered fingers and broad thumbs; flat feet;
bowed legs or knock knees; short shoulder blades (scapulae); and an abnormal
curvature of the spine (scoliosis). Typical facial features include a wide,
short skull (brachycephaly); a prominent forehead; wide-set eyes
(hypertelorism); a flat nose; and a small upper jaw.
html:p Individuals with cleidocranial dysplasia often have decreased bone density
(osteopenia) and may develop osteoporosis, a condition that makes bones
progressively more brittle and prone to fracture, at a relatively early age.
Women with cleidocranial dysplasia have an increased risk of requiring a
cesarean section when delivering a baby, due to a narrow pelvis preventing
passage of the infant's head.
html:p Dental abnormalities are very common in cleidocranial dysplasia and can include
delayed loss of the primary (baby) teeth; delayed appearance of the secondary
(adult) teeth; unusually shaped, peg-like teeth; misalignment of the teeth and
jaws (malocclusion); and extra teeth, sometimes accompanied by cysts in the
gums.
html:p In addition to skeletal and dental abnormalities, people with cleidocranial
dysplasia may have hearing loss and are prone to sinus and ear infections. Some
young children with this condition are mildly delayed in the development of
motor skills such as crawling and walking, but intelligence is unaffected.
related-gene-list
CLN1 disease https://ghr.nlm.nih.gov/condition/cln1-disease The incidence of CLN1 disease is unknown; more than 200 cases have been html:p CLN1 disease is an inherited disorder that primarily affects the nervous system. ar autosomal recessive PPT1 https://ghr.nlm.nih.gov/gene/PPT1 CLN1 db key 2016-10 2017-12-29
(nervous) described in the scientific literature. Collectively, all forms of NCL affect an Individuals with this condition have normal development in infancy, but infantile Batten disease GTR C0268281
estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, typically by 18 months they begin to lose previously acquired skills infantile neuronal ceroid lipofuscinosis db key
where approximately 1 in 12,500 individuals are affected. (developmental regression). In affected children, brain cells die over time, neuronal ceroid lipofuscinosis 1 GTR C1850451
leading to an overall loss of brain tissue (brain atrophy) and an unusually neuronal ceroid lipofuscinosis, infantile db key
small head (microcephaly). Children with CLN1 disease have decreased muscle tone Santavuori-Haltia disease GeneReviews ncl
(hypotonia), intellectual and motor disability, and rarely are able to speak or db key
walk. Individuals with this condition often have muscle twitches (myoclonus), ICD-10-CM E75.4
recurrent seizures (epilepsy), and vision loss. Children with CLN1 disease db key
usually do not survive past adolescence. MeSH D009472
html:p Some people with this condition do not develop symptoms until later in childhood db key
or in adulthood. As with younger affected children, older individuals develop a OMIM 256730
decline in intellectual function, myoclonus, epilepsy, and vision loss. Adults db key
with CLN1 disease may also have movement disorders, including impaired muscle Orphanet 79263
coordination (ataxia) or a pattern of movement abnormalities known as db key
parkinsonism. SNOMED CT 58258004
html:p CLN1 disease is one of a group of disorders known as neuronal ceroid
lipofuscinoses (NCLs), which may also be collectively referred to as Batten
disease. All these disorders affect the nervous system and typically cause
worsening problems with vision, movement, and thinking ability. The different
NCLs are distinguished by their genetic cause. Each disease type is given the
designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to
indicate its subtype.
related-gene-list
CLN10 disease https://ghr.nlm.nih.gov/condition/cln10-disease The prevalence of CLN10 disease is unknown; at least 11 cases have been html:p CLN10 disease is a severe disorder that primarily affects the nervous system. ar autosomal recessive CTSD https://ghr.nlm.nih.gov/gene/CTSD cathepsin D deficiency db key 2016-10 2017-12-29
described. Individuals with this condition typically show signs and symptoms soon after cathepsin D deficient neuronal ceroid lipofuscinosis GTR C1864670
birth. These signs and symptoms can include muscle rigidity, respiratory CLN10 db key
failure, and prolonged episodes of seizure activity that last several minutes congenital neuronal ceroid lipofuscinosis GeneReviews ncl
(status epilepticus). It is likely that some affected individuals also have neuronal ceroid lipofuscinosis 10, 神經元蠟樣脂褐質儲積症10 db key
seizures before birth while in the womb. Infants with CLN10 disease have neuronal ceroid lipofuscinosis due to cathepsin D deficiency ICD-10-CM E75.4
unusually small heads (microcephaly) with brains that may be less than half the db key
normal size. There is a loss of brain cells in areas that coordinate movement MeSH D009472
(the cerebellum) and control thinking and emotions (the cerebral cortex). Nerve db key
cells in the brain also lack a fatty substance called myelin, which protects OMIM 610127
them and promotes efficient transmission of nerve impulses. Infants with CLN10 db key
disease often die hours to weeks after birth. Orphanet 168486
html:p In some individuals with CLN10 disease, the condition does not appear until db key
later in life, between late infancy and adulthood. These individuals have a SNOMED CT 720830009
gradual loss of brain cells and often develop problems with balance and db key
coordination (ataxia), loss of speech, a progressive loss in intellectual SNOMED CT 720831008
functioning (cognitive decline), and vision loss. Individuals with later-onset
CLN10 disease have a shortened lifespan, depending on when their signs and
symptoms first started.
html:p CLN10 disease is one of a group of disorders known as neuronal ceroid
lipofuscinoses (NCLs). All of these disorders affect the nervous system and
typically cause progressive problems with vision, movement, and thinking
ability. The different NCLs are distinguished by their genetic cause. Each
disease type is given the designation "CLN," meaning ceroid lipofuscinosis,
neuronal, and then a number to indicate its subtype.
related-gene-list
CLN2 disease https://ghr.nlm.nih.gov/condition/cln2-disease In the Newfoundland province of Canada, the incidence of CLN2 disease is html:p CLN2 disease is an inherited disorder that primarily affects the nervous system. ar autosomal recessive TPP1 https://ghr.nlm.nih.gov/gene/TPP1 Jansky-Bielschowsky disease db key 2016-11 2017-12-29
estimated to be 9 in 100,000 births. The incidence of the condition outside of The signs and symptoms of this condition typically begin between ages 2 and 4. late-infantile Batten disease GTR C0022340
this population is unknown. More than 300 cases worldwide have been described in The initial features usually include recurrent seizures (epilepsy) and late-infantile neuronal ceroid lipofuscinosis db key
the scientific literature. difficulty coordinating movements (ataxia). Affected children also develop LINCL GTR C0027877
muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, neuronal ceroid lipofuscinosis, late-infantile db key
such as sitting and walking, and speech development. This condition also causes GTR C1876161
the loss of previously acquired skills (developmental regression), intellectual db key
disability that gradually gets worse, and behavioral problems. Individuals with GeneReviews ncl
this condition often require the use of a wheelchair by late childhood and db key
typically do not survive past their teens. ICD-10-CM E75.4
html:p Some children with CLN2 disease do not develop symptoms until later in db key
childhood, typically after age 4. These individuals tend to have milder features MeSH D009472
overall compared to those diagnosed earlier, but with more severe ataxia. They db key
have a shortened life expectancy, although they tend to survive into adulthood. OMIM 204500
html:p CLN2 disease is one of a group of disorders known as neuronal ceroid db key
lipofuscinoses (NCLs), which may also be collectively referred to as Batten Orphanet 168491
disease. All these disorders affect the nervous system and typically cause db key
worsening problems with vision, movement, and thinking ability. The different SNOMED CT 14637005
NCLs are distinguished by their genetic cause. Each disease type is given the
designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to
indicate its subtype.
related-gene-list
CLN3 disease https://ghr.nlm.nih.gov/condition/cln3-disease CLN3 disease is the most common type of NCL, but its exact prevalence is html:p CLN3 disease is an inherited disorder that primarily affects the nervous system. ar autosomal recessive CLN3 https://ghr.nlm.nih.gov/gene/CLN3 Batten-Mayou disease db key 2017-01 2017-12-29
unknown; more than 400 cases have been described in the scientific literature. After 4 to 6 years of normal development, children with this condition develop Batten-Spielmeyer-Vogt disease GTR C0751383
Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals vision impairment, intellectual disability, movement problems, speech CLN3-related neuronal ceroid-lipofuscinosis db key
worldwide. difficulties, and seizures, which worsen over time. juvenile Batten disease GeneReviews ncl
html:p In children with CLN3 disease, problems with vision often begin between the ages Juvenile cerebroretinal degeneration db key
of 4 and 8 years. Vision impairment worsens with age, and people with CLN3 juvenile neuronal ceroid lipofuscinosis ICD-10-CM E75.4
disease are often blind by late childhood or adolescence. Also around age 4 to Spielmeyer-Vogt disease db key
8, children with CLN3 disease start to fall behind in school. They have MeSH D009472
difficulty learning new information and lose previously acquired skills db key
(developmental regression), usually beginning with loss of the ability to speak OMIM 204200
in complete sentences. db key
html:p Movement abnormalities often develop in adolescence in people with CLN3 disease. Orphanet 79264
These abnormalities include muscle rigidity or stiffness, slow or diminished db key
movements (hypokinesia), and a stooped posture. Over time, affected individuals SNOMED CT 61663001
lose the ability to walk or sit independently and require wheelchair assistance.
In rare cases, people with CLN3 disease have heart (cardiac) problems,
including heart rhythm abnormalities and an increase in the size of the heart
muscle (hypertrophic cardiomyopathy). These heart problems usually develop in
adolescence or early adulthood. Most people with CLN3 disease live into early
adulthood.
html:p CLN3 disease is one of a group of disorders known as neuronal ceroid
lipofuscinoses (NCLs), which may also be collectively referred to as Batten
disease. All these disorders affect the nervous system and typically cause
worsening problems with vision, movement, and thinking ability. The different
NCLs are distinguished by their genetic cause. Each disease type is given the
designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to
indicate its subtype.
related-gene-list
CLN4 disease https://ghr.nlm.nih.gov/condition/cln4-disease CLN4 disease is a rare disorder, but its prevalence is unknown. html:p CLN4 disease is a condition that primarily affects the nervous system, causing ad autosomal dominant DNAJC5 https://ghr.nlm.nih.gov/gene/DNAJC5 adult neuronal ceroid lipofuscinosis db key 2017-01 2017-12-29
Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals problems with movement and intellectual function that worsen over time. The ceroid cipofuscinosis, neuronal, 4B, autosomal dominant GTR C1834207
worldwide. signs and symptoms of CLN4 disease typically appear around age 30, but they can CLN4B db key
develop anytime between adolescence and late adulthood. GeneReviews ncl
html:p People with CLN4 disease often develop seizures and uncontrollable muscle jerks db key
(myoclonic epilepsy), a decline in intellectual function (dementia), problems ICD-10-CM E75.4
with coordination and balance (ataxia), tremors or other involuntary movements db key
(motor tics), and speech difficulties (dysarthria). The signs and symptoms of MeSH D009472
CLN4 disease worsen over time, and affected individuals usually survive about 15 db key
years after the disorder begins. OMIM 162350
html:p CLN4 disease is one of a group of disorders known as neuronal ceroid db key
lipofuscinoses (NCLs), which may also be collectively referred to as Batten Orphanet 79262
disease. All these disorders affect the nervous system and typically cause db key
worsening problems with vision, movement, and thinking ability. The different SNOMED CT 62009002
NCLs are distinguished by their genetic cause. Each disease type is given the
designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to
indicate its subtype.
related-gene-list
CLN5 disease https://ghr.nlm.nih.gov/condition/cln5-disease The incidence of CLN5 disease is unknown; more than 85 cases have been html:p CLN5 disease is an inherited disorder that primarily affects the nervous system. ar autosomal recessive CLN5 https://ghr.nlm.nih.gov/gene/CLN5 Finnish variant late infantile neuronal ceroid lipofuscinosis db key 2016-11 2017-12-29
described in the scientific literature. CLN5 disease was originally thought to The signs and symptoms of this condition can begin anytime between childhood Finnish vLINCL GTR C1850442
affect only the Finnish population as they were the first individuals to be and early adulthood, but they typically appear around age 5. Children with CLN5 Jansky-Bielschowsky disease db key
diagnosed with the condition. However, research has since shown that CLN5 disease often have normal development until they experience the first signs of late-infantile neuronal ceroid lipofuscinosis GeneReviews ncl
disease affects populations worldwide. NCLs, including CLN5 disease, are still the condition, which are usually problems with movement and a loss of previously neuronal ceroid lipofuscinosis 5 db key
most common in Finland, where approximately 1 in 12,500 individuals are acquired motor skills (developmental regression). Other features of the neuronal ceroid lipofuscinosis, late-infantile ICD-10-CM E75.4
affected. Collectively, all forms of NCL affect an estimated 1 in 100,000 condition include recurrent seizures that involve uncontrollable muscle jerks vLINCL db key
individuals worldwide. (myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, MeSH D009472
and a decline in intellectual function. The life expectancy of people with CLN5 db key
disease varies; affected individuals usually survive into adolescence or OMIM 256731
mid-adulthood. db key
html:p CLN5 disease is one of a group of disorders known as neuronal ceroid Orphanet 168491
lipofuscinoses (NCLs), which may also be collectively referred to as Batten db key
disease. All these disorders affect the nervous system and typically cause SNOMED CT 14637005
worsening problems with vision, movement, and thinking ability. The different
NCLs are distinguished by their genetic cause. Each disease type is given the
designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to
indicate its subtype.
related-gene-list
CLN6 disease https://ghr.nlm.nih.gov/condition/cln6-disease The incidence of CLN6 disease is unknown; more than 125 cases have been html:p CLN6 disease is an inherited disorder that primarily affects the nervous system. ar autosomal recessive CLN6 https://ghr.nlm.nih.gov/gene/CLN6 ceroid lipofuscinosis neuronal 6 db key 2017-01 2017-12-29
described in the scientific literature. Collectively, all forms of NCL affect an The signs and symptoms of this condition typically begin between early and late CLN6-related neuronal ceroid lipofuscinosis GTR C1866282
estimated 1 in 100,000 individuals worldwide. childhood, but sometimes they can appear in adulthood. neuronal ceroid lipofuscinosis 6 db key
html:p Most children with CLN6 disease initially experience the loss of previously GeneReviews ncl
acquired skills (developmental regression). Affected individuals can also db key
develop recurrent seizures (epilepsy), difficulty coordinating movements ICD-10-CM E75.4
(ataxia), muscle twitches (myoclonus), impaired speech (dysarthria), and vision db key
loss. The movement problems worsen over time until affected children cannot MeSH D009472
walk, stand, or sit without assistance. Intellectual function also declines over db key
time. Most children with CLN6 disease do not survive into adulthood. OMIM 601780
html:p Some people with CLN6 disease do not show signs or symptoms of the condition db key
until adulthood, typically after age 30. These individuals can have epilepsy, Orphanet 216
ataxia, dysarthria, and a progressive loss of intellectual function. CLN6 db key
disease usually does not cause vision loss in affected adults. Adults with this SNOMED CT 14637005
condition do not often survive more than 10 years after diagnosis.
html:p CLN6 disease is one of a group of disorders known as neuronal ceroid
lipofuscinoses (NCLs), which may also be collectively referred to as Batten
disease. All these disorders affect the nervous system and typically cause
worsening problems with vision, movement, and thinking ability. The different
NCLs are distinguished by their genetic cause. Each disease type is given the
designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to
indicate its subtype.
related-gene-list
CLN7 disease https://ghr.nlm.nih.gov/condition/cln7-disease The incidence of CLN7 disease is unknown; more than 70 cases have been html:p CLN7 disease is an inherited disorder that primarily affects the nervous system. ar autosomal recessive MFSD8 https://ghr.nlm.nih.gov/gene/MFSD8 CLN7 db key 2016-12 2017-12-29
described in the scientific literature. CLN7 disease was first diagnosed in the The signs and symptoms of this condition typically begin between ages 2 and 7. CLN7 disease, late infantile GTR C1838571
Turkish population and was thought to be limited to individuals in that group. The initial features usually include recurrent seizures (epilepsy) and the loss MFSD8-related neuronal ceroid lipofuscinosis db key
However, CLN7 disease has now been identified in people around the world. of previously acquired skills (developmental regression). Affected children also GeneReviews ncl
Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals develop muscle twitches (myoclonus), difficulty coordinating movements db key
worldwide. (ataxia), speech impairment, and vision loss. Mental functioning and motor ICD-10-CM E75.4
skills (such as sitting and walking) decline with age. Individuals with CLN7 db key
disease typically do not survive past their teens. MeSH D009472
html:p CLN7 disease is one of a group of disorders known as neuronal ceroid db key
lipofuscinoses (NCLs), which may also be collectively referred to as Batten OMIM 610951
disease. All these disorders affect the nervous system and typically cause db key
worsening problems with vision, movement, and thinking ability. The different Orphanet 168491
NCLs are distinguished by their genetic cause. Each disease type is given the db key
designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to SNOMED CT 14637005
indicate its subtype.
related-gene-list
CLN8 disease https://ghr.nlm.nih.gov/condition/cln8-disease The less-severe form of CLN8 disease appears to affect only individuals of html:p CLN8 disease is an inherited disorder that varies in severity and primarily ar autosomal recessive CLN8 https://ghr.nlm.nih.gov/gene/CLN8 neuronal ceroid lipofuscinosis 8 db key 2016-12 2017-12-29
Finnish ancestry, particularly those from the Kainuu region of northern Finland, affects the nervous system. The condition is generally separated into GTR C1838570
which is why it is sometimes called Northern epilepsy. Approximately 1 in less-severe and more-severe forms, based on the types of signs and symptoms that db key
10,000 individuals in this region have the condition. The prevalence of the develop and life expectancy. GTR C1864923
more-severe form of CLN8 disease is unknown. Collectively, all forms of NCL html:p The less-severe form of CLN8 disease, sometimes referred to as Northern db key
affect an estimated 1 in 100,000 individuals worldwide. epilepsy, is characterized by recurrent seizures (epilepsy) and a decline in GeneReviews ncl
intellectual function that begins between ages 5 and 10. The seizures in this db key
form may be resistant to treatment and are often the generalized tonic-clonic ICD-10-CM E75.4
type, which involve muscle rigidity, convulsions, and loss of consciousness. db key
Some people with this form of CLN8 disease also experience partial seizures, MeSH D009472
which do not cause a loss of consciousness. The seizures occur approximately one db key
to two times per month until adolescence; by early adulthood the frequency MeSH D020191
decreases to about four to six times per year. By middle age, seizures become db key
even less frequent. In addition to seizures, affected individuals experience a OMIM 600143
gradual decline in intellectual function and develop problems with coordination db key
and balance. Vision problems may occur in early to mid-adulthood. Individuals OMIM 610003
with the less-severe form of CLN8 disease often live into late adulthood. db key
html:p The more-severe form of CLN8 disease typically begins between ages 2 and 7.The Orphanet 216
seizures in this form involve uncontrollable muscle jerks (myoclonic epilepsy). db key
Individuals with the more-severe form have a more pronounced decline in SNOMED CT 703526007
intellectual function and usually lose the ability to speak. Vision loss is also
common. People with this form of CLN8 disease have increasing difficulty
walking and coordinating movements (ataxia), eventually becoming immobile.
Individuals with the more-severe form of CLN8 disease usually survive only into
late childhood or adolescence.
html:p CLN8 disease is one of a group of disorders known as neuronal ceroid
lipofuscinoses (NCLs), which may also be collectively referred to as Batten
disease. All these disorders affect the nervous system and typically cause
worsening problems with vision, movement, and thinking ability. The different
NCLs are distinguished by their genetic cause. Each disease type is given the
designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to
indicate its subtype.
related-gene-list
Clopidogrel resistance https://ghr.nlm.nih.gov/condition/clopidogrel-resistance Clopidogrel resistance is a common condition, and its incidence can vary html:p Clopidogrel resistance is a condition in which the drug clopidogrel is less ac autosomal codominant CYP2C19 https://ghr.nlm.nih.gov/gene/CYP2C19 CYP2C19-related poor drug metabolism db key 2015-12 2017-12-29
保栓通錠 depending on ancestry. About half of individuals with Asian ancestry have effective than normal in people who are treated with it. Clopidogrel (also known poor metabolism of clopidogrel GTR C1836023
clopidogrel resistance, with 10 percent of these individuals classified as poor as Plavix) is an antiplatelet drug, which means that it prevents blood cell resistance to clopidogrel db key
metabolizers. Among people from western countries, nearly 30 percent are fragments called platelets from sticking together (aggregating) and forming GTR C2674941
estimated to have clopidogrel resistance, with about 3 percent classified as blood clots. This drug is typically given to prevent blood clot formation in db key
poor metabolizers. individuals with a history of stroke; heart attack; a blood clot in the deep MeSH D004305
veins of the arms or legs (deep vein thrombosis); or plaque buildup db key
(atherosclerosis) in the blood vessels leading from the heart, which are opened OMIM 609535
by placement of a small thin tube (stent). db key
html:p People with clopidogrel resistance who receive clopidogrel are at risk of Orphanet 240935
serious, sometimes fatal, complications. These individuals may have another db key
heart attack or stroke caused by abnormal blood clot formation; those with SNOMED CT 419253001
stents can develop blood clots (thromboses) within the stents, impeding blood
flow.
html:p People with clopidogrel resistance can be divided into two categories:
intermediate metabolizers and poor metabolizers. Intermediate metabolizers are
able to process some clopidogrel, so they receive partial benefit from the
treatment but are not protected from developing a harmful blood clot. Poor
metabolizers process little or no clopidogrel, so they receive very limited
benefit from the treatment and are at risk of forming a harmful blood clot.
html:p Clopidogrel resistance does not appear to cause any health problems other than
those associated with clopidogrel drug treatment.
related-gene-list
Clouston syndrome https://ghr.nlm.nih.gov/condition/clouston-syndrome The prevalence of Clouston syndrome is unknown. Cases have been reported in html:p Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 ad autosomal dominant GJB6 https://ghr.nlm.nih.gov/gene/GJB6 Clouston hidrotic ectodermal dysplasia db key 2014-03 2017-12-29
克勞斯頓綜合症 many populations; the disorder is especially common among people of conditions characterized by abnormal development of some or all of the Clouston's syndrome GTR C0162361
(外胚層) French-Canadian descent. ectodermal structures, which include the skin, hair, nails, teeth, and sweat ECTD2 db key
(ectodermal) glands. Specifically, Clouston syndrome is characterized by abnormalities of the ectodermal dysplasia 2, Clouston type GeneReviews ed2
hair, nails, and skin, with the teeth and sweat glands being unaffected. HED2 db key
html:p In infants with Clouston syndrome, scalp hair is sparse, patchy, and lighter in hidrotic ectodermal dysplasia 2 MeSH D004476
color than the hair of other family members; it is also fragile and easily db key
broken. By puberty, the hair problems may worsen until all the hair on the scalp OMIM 129500
is lost (total alopecia). The eyelashes, eyebrows, underarm (axillary) hair, db key
and pubic hair are also sparse or absent. Orphanet 189
html:p Abnormal growth of fingernails and toenails (nail dystrophy) is also db key
characteristic of Clouston syndrome. The nails may appear white in the first SNOMED CT 54209007
years of life. They grow slowly and gradually become thick and misshapen. In
some people with Clouston syndrome, nail dystrophy is the most noticeable
feature of the disorder.
html:p Many people with Clouston syndrome have thick skin on the palms of the hands and
soles of the feet (palmoplantar hyperkeratosis); areas of the skin, especially
over the joints, that are darker in color than the surrounding skin
(hyperpigmentation); and widened and rounded tips of the fingers (clubbing).
related-gene-list
CLPB deficiency https://ghr.nlm.nih.gov/condition/clpb-deficiency CLPB deficiency is a rare disorder; the prevalence is not known. At least html:p CLPB deficiency is a rare disorder characterized by neurological problems and a ar autosomal recessive CLPB https://ghr.nlm.nih.gov/gene/CLPB 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome db key 2017-02 2017-12-29
26 cases have been reported in the medical literature. shortage of infection-fighting white blood cells (neutropenia). Signs and 3-methylglutaconic aciduria type 7 GTR C4225393
symptoms of the condition develop by early childhood, and their severity varies 3-methylglutaconic aciduria type VII db key
widely among affected individuals. 3-methylglutaconic aciduria with cataracts, neurologic involvement and GeneReviews clpb-def
html:p In the most severely affected individuals, features of CLPB deficiency are neutropenia db key
apparent in infancy and sometimes at birth. Affected babies have serious MEGCANN MeSH D001927
neurological problems, which can include an exaggerated startle reaction MGA7 db key
(hyperekplexia) to unexpected stimuli such as loud noises, reduced movement, MGCA7 OMIM 616271
muscle tone that is either decreased (hypotonia) or increased (hypertonia), db key
swallowing problems, difficulty breathing, and recurrent seizures (epilepsy). Orphanet 445038
These babies may also have movement abnormalities, such as difficulty
coordinating movements (ataxia), involuntary tensing of the muscles (dystonia),
or uncontrolled movements of the body (dyskinesia). In addition, these babies
have recurrent, life-threatening infections due to severe neutropenia. Affected
individuals are at risk of developing a blood cell disorder called
myelodysplastic syndrome or a form of blood cancer called leukemia. Because of
their severe health problems, affected infants usually live only a few weeks or
months.
html:p Moderately affected individuals have neurological problems similar to those
described above, although they are less severe. They include hypotonia, muscle
stiffness (spasticity), and movement abnormalities. Other features of moderate
CLPB deficiency include epilepsy and mild to severe intellectual disability.
Neutropenia in these individuals can lead to recurrent infections, although they
are not life-threatening.
html:p Mildly affected individuals have no neurological problems, and although they
have neutropenia, it does not increase the risk of infections. Some people with
mild CLPB deficiency develop deposits of calcium in the kidneys
(nephrocalcinosis) or kidney (renal) cysts.
html:p Many people with mild, moderate, or severe CLPB deficiency have clouding of the
lenses of the eyes (cataracts) from birth (congenital) or beginning in infancy.
html:p CLPB deficiency is associated with increased levels of a substance called
3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). This
abnormality, which provides a clue to the diagnosis, does not appear to cause
any health problems.
related-gene-list
Coats plus syndrome https://ghr.nlm.nih.gov/condition/coats-plus-syndrome Coats plus syndrome appears to be a rare disorder. Its prevalence is html:p Coats plus syndrome is an inherited condition characterized by an eye disorder ar autosomal recessive CTC1 https://ghr.nlm.nih.gov/gene/CTC1 cerebroretinal microangiopathy with calcifications and cysts db key 2014-04 2017-12-29
unknown. called Coats disease plus abnormalities of the brain, bones, gastrointestinal CRMCC GTR C2677299
system, and other parts of the body. db key
html:p Coats disease affects the retina, which is the tissue at the back of the eye MeSH D012164
that detects light and color. The disorder causes blood vessels in the retina to db key
be abnormally enlarged (dilated) and twisted. The abnormal vessels leak fluid, OMIM 612199
which can eventually cause the layers of the retina to separate (retinal db key
detachment). These eye abnormalities often result in vision loss. Orphanet 313838
html:p People with Coats plus syndrome also have brain abnormalities including abnormal db key
deposits of calcium (calcification), the development of fluid-filled pockets SNOMED CT 711482008
called cysts, and loss of a type of brain tissue known as white matter
(leukodystrophy). These brain abnormalities worsen over time, causing slow
growth, movement disorders, seizures, and a decline in intellectual function.
html:p Other features of Coats plus syndrome include low bone density (osteopenia),
which causes bones to be fragile and break easily, and a shortage of red blood
cells (anemia), which can lead to unusually pale skin (pallor) and extreme
tiredness (fatigue). Affected individuals can also have serious or
life-threatening complications including abnormal bleeding in the
gastrointestinal tract, high blood pressure in the vein that supplies blood to
the liver (portal hypertension), and liver failure. Less common features of
Coats plus syndrome can include sparse, prematurely gray hair; malformations of
the fingernails and toenails; and abnormalities of skin coloring (pigmentation),
such as light brown patches called café-au-lait spots.
html:p Coats plus syndrome and a disorder called leukoencephalopathy with
calcifications and cysts (LCC; also called Labrune syndrome) have sometimes been
grouped together under the umbrella term cerebroretinal microangiopathy with
calcifications and cysts (CRMCC) because they feature very similar brain
abnormalities. However, researchers recently found that Coats plus syndrome and
LCC have different genetic causes, and they are now generally described as
separate disorders instead of variants of a single condition.
related-gene-list
Cockayne syndrome https://ghr.nlm.nih.gov/condition/cockayne-syndrome Cockayne syndrome is estimated to occur in 2 to 3 per million newborns in html:p Cockayne syndrome is a rare disorder characterized by an abnormally small head ar autosomal recessive ERCC6 https://ghr.nlm.nih.gov/gene/ERCC6 CS db key 2016-06 2017-12-29
柯凱因氏症候群 the United States and Europe. size (microcephaly), a failure to gain weight and grow at the expected rate related-gene gene-symbol ghr-page dwarfism-retinal atrophy-deafness syndrome GTR C0009207
(failure to thrive) leading to very short stature, and delayed development. The ERCC8 https://ghr.nlm.nih.gov/gene/ERCC8 db key
signs and symptoms of this condition are usually apparent from infancy, and they GTR C0751037
worsen over time. Most affected individuals have an increased sensitivity to db key
sunlight (photosensitivity), and in some cases even a small amount of sun GTR C0751039
exposure can cause a sunburn or blistering of the skin. Other signs and symptoms db key
often include hearing loss, vision loss, severe tooth decay, bone GTR C2931277
abnormalities, hands and feet that are cold all the time, and changes in the db key
brain that can be seen on brain scans. GeneReviews cockayne
html:p People with Cockayne syndrome have a serious reaction to an antibiotic db key
medication called metronidazole. If affected individuals take this medication, MeSH D003057
it can cause life-threatening liver failure. db key
html:p Cockayne syndrome is sometimes divided into types I, II, and III based on the OMIM 133540
severity and age of onset of symptoms. However, the differences between the db key
types are not always clear-cut, and some researchers believe the signs and OMIM 214150
symptoms reflect a spectrum instead of distinct types. Cockayne syndrome type II db key
is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some OMIM 216400
researchers consider it to be a separate but similar condition, others classify db key
it as part of the Cockayne syndrome disease spectrum. Orphanet 191
db key
related-gene-list SNOMED CT 21086008
Coffin-Lowry syndrome https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome The incidence of this condition is uncertain, but researchers estimate that html:p Coffin-Lowry syndrome is a condition that affects many parts of the body. The xd X-linked dominant RPS6KA3 https://ghr.nlm.nih.gov/gene/RPS6KA3 CLS db key 2016-02 2017-12-29
Coffin-Lowry症候群 the disorder affects 1 in 40,000 to 50,000 people. signs and symptoms are usually more severe in males than in females, although Mental retardation with osteocartilaginous abnormalities GTR C0265252
the features of this disorder range from very mild to severe in affected women. db key
html:p Males with Coffin-Lowry syndrome typically have severe to profound intellectual GeneReviews cls
disability and delayed development. Affected women may be cognitively normal, or db key
they may have intellectual disability ranging from mild to profound. Beginning MeSH D038921
in childhood or adolescence, some people with this condition experience brief db key
episodes of collapse when excited or startled by a loud noise. These attacks OMIM 303600
are called stimulus-induced drop episodes (SIDEs). db key
html:p Most affected males and some affected females have distinctive facial features Orphanet 192
including a prominent forehead, widely spaced and downward-slanting eyes, a db key
short nose with a wide tip, and a wide mouth with full lips. These features SNOMED CT 15182000
become more pronounced with age. Soft hands with short, tapered fingers are
also characteristic of Coffin-Lowry syndrome. Additional features of this
condition include short stature, an unusually small head (microcephaly),
progressive abnormal curvature of the spine (kyphoscoliosis), and other skeletal
abnormalities.
related-gene-list
Coffin-Siris syndrome https://ghr.nlm.nih.gov/condition/coffin-siris-syndrome Coffin-Siris syndrome is a rare condition that is diagnosed in females more html:p Coffin-Siris syndrome is a condition that affects several body systems. Although ad autosomal dominant ARID1A https://ghr.nlm.nih.gov/gene/ARID1A dwarfism-onychodysplasia db key 2013-05 2017-12-29
Coffin-Siris症候群 frequently than in males. Approximately 140 cases have been reported in the there are many variable signs and symptoms, hallmarks of this condition include related-gene gene-symbol ghr-page fifth digit syndrome GTR C0265338
medical literature. developmental disability, abnormalities of the fifth (pinky) fingers or toes, ARID1B https://ghr.nlm.nih.gov/gene/ARID1B mental retardation with hypoplastic fifth fingernails and toenails db key
and characteristic facial features. related-gene gene-symbol ghr-page short stature-onychodysplasia GeneReviews coffin-siris
html:p Most affected individuals have mild to severe intellectual disability or delayed SMARCA4 https://ghr.nlm.nih.gov/gene/SMARCA4 db key
development of speech and motor skills such as sitting and walking. Another related-gene gene-symbol ghr-page MeSH D008607
feature of Coffin-Siris syndrome is underdevelopment (hypoplasia) of the tips of SMARCB1 https://ghr.nlm.nih.gov/gene/SMARCB1 db key
the fingers or toes, or hypoplasia or absence of the nails. These abnormalities related-gene gene-symbol ghr-page OMIM 135900
are most common on the fifth fingers or toes. In addition, most affected SMARCE1 https://ghr.nlm.nih.gov/gene/SMARCE1 db key
individuals have facial features described as coarse. These typically include a Orphanet 1465
wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick db key
eyebrows and eyelashes. Affected individuals can have excess hair on other parts SNOMED CT 10007009
of the face and body (hirsutism), but scalp hair is often sparse. There is a
range of facial features seen in people with Coffin-Siris syndrome, and not all
affected individuals have the typical features. In addition, people with this
condition may have an abnormally small head (microcephaly).
html:p Additionally, some infants and children with Coffin-Siris syndrome have frequent
respiratory infections, difficulty feeding, and an inability to gain weight at
the expected rate (failure to thrive). Other signs and symptoms that may occur
in people with this condition include short stature, low muscle tone
(hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes,
brain, heart, and kidneys may also be present.
inheritance-pattern-list related-gene-list
COG5-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/cog5-congenital-disorder-of-glycosylation COG5-CDG is a very rare disorder; fewer than 10 cases have been described html:p COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as autosomal recessive ghr-page carbohydrate deficient glycoprotein syndrome type IIi db-key db key 2014-08 2017-12-29
(Congenital) in the medical literature. congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological https://ghr.nlm.nih.gov/gene/COG5 CDG IIi GTR C3150876
problems and other abnormalities. The pattern and severity of this disorder's CDG2I db-key db key
signs and symptoms vary among affected individuals. CDGIIi GeneReviews cdg
html:p Individuals with COG5-CDG typically develop signs and symptoms of the condition COG5-CDG db-key db key
during infancy. These individuals often have weak muscle tone (hypotonia) and delayed congenital disorder of glycosylation type IIi MeSH D018981
development. Other neurological features include moderate to severe intellectual disability, db-key db key
poor coordination, and difficulty walking. Some affected individuals never learn to OMIM 613612
speak. Other features of COG5-CDG include short stature, an unusually small head size (microcephaly), db-key db key
and distinctive facial features, which can include ears that are set low Orphanet 263487
and rotated backward, a short neck with a low hairline in the back, and a prominent nose. db-key db key
Less commonly, affected individuals can have hearing loss caused by changes in the inner ear SNOMED CT 721100009
(sensorineural hearing loss), vision impairment, damage to the nerves that
control bladder function (a condition called neurogenic bladder),
liver disease, and joint deformities (contractures).
related-gene-list
Cohen syndrome https://ghr.nlm.nih.gov/condition/cohen-syndrome The exact incidence of Cohen syndrome is unknown. It has been diagnosed in html:p Cohen syndrome is an inherited disorder that affects many parts of the body and autosomal recessive VPS13B https://ghr.nlm.nih.gov/gene/VPS13B hypotonia, obesity, and prominent incisors db key 2017-06 2017-12-29
科恩綜合症 fewer than 1,000 people worldwide. More cases are likely undiagnosed. is characterized by developmental delay, intellectual disability, small head Norio syndrome GTR C0265223
size (microcephaly), and weak muscle tone (hypotonia). Other features common in obesity-hypotonia syndrome db key
this condition include worsening nearsightedness (myopia), breakdown Pepper syndrome GeneReviews cohen
(degeneration) of the light-sensitive tissue at the back of the eye (retinal prominent incisors-obesity-hypotonia syndrome db key
dystrophy), an unusually large range of joint movement (hypermobility), and MeSH D000015
distinctive facial features. These facial features typically include thick hair db key
and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and MeSH D002658
wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose db key
and the upper lip (philtrum), and prominent upper central teeth. The combination OMIM 216550
of the last two facial features results in an open mouth. db key
html:p The features of Cohen syndrome vary widely among affected individuals. Orphanet 193
Additional signs and symptoms in some individuals with this disorder include low db key
levels of white blood cells (neutropenia), overly friendly behavior, and SNOMED CT 56604005
obesity that develops in late childhood or adolescence. When obesity is present,
it typically occurs around the torso, with the arms and legs remaining slender
(called truncal obesity). Individuals with Cohen syndrome may also have narrow
hands and feet, and slender fingers.
inheritance-pattern-list
COL4A1-related brain small-vessel disease https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease COL4A1-related brain small-vessel disease is a rare condition, although the html:p COL4A1-related brain small-vessel disease is part of a group of conditions called the ad related-gene ghr-page synonym brain small-vessel disease with hemorrhage db-key db key 2011-09 2017-12-29
exact prevalence is unknown. At least 50 individuals with this condition have COL4A1-related disorders. The conditions in this group have a range of signs https://ghr.nlm.nih.gov/gene/COL4A1 GTR C1843512
been described in the scientific literature. and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel db-key db key
disease is characterized by weakening of the blood vessels in the brain. GeneReviews col4a1-dis
Stroke is often the first symptom of this condition, typically occurring in mid-adulthood. db-key db key
In affected individuals, stroke is usually caused by bleeding in the brain (hemorrhagic stroke) MeSH D002543
rather than a lack of blood flow in the brain (ischemic stroke), although either db-key db key
type can occur. Individuals with this condition are at increased risk of having more than one stroke OMIM 607595
in their lifetime. People with COL4A1-related brain small vessel disease also have db-key db key
leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be Orphanet 36383
seen with magnetic resonance imaging (MRI). Affected individuals may also experience seizures and migraine headaches accompanied by visual sensations known as auras. db-key db key
html:p Some people with COL4A1-related brain small-vessel disease have an eye abnormality SNOMED CT 443929000
called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly involves underdevelopment and eventual
tearing of the colored part of the eye (iris) and a pupil that is not in the center of the eye.
Other eye problems experienced by people with COL4A1-related brain
small-vessel disease include clouding of the lens of the eye (cataract) and the presence of
arteries that twist and turn abnormally within the light-sensitive tissue at the back of
the eye (arterial retinal tortuosity). Axenfeld-Rieger anomaly and cataract can cause impaired vision.
Arterial retinal tortuosity can cause episodes of bleeding within the eye following any minor trauma to the eye,
leading to temporary vision loss.
html:p The severity of the condition varies greatly among affected individuals. Some
individuals with COL4A1-related brain small-vessel disease do not have
any signs or symptoms of the condition.
related-gene-list
Cold-induced sweating syndrome https://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome Cold-induced sweating syndrome is a rare condition; its prevalence is html:p Cold-induced sweating syndrome is characterized by problems with regulating body ar autosomal recessive CLCF1 https://ghr.nlm.nih.gov/gene/CLCF1 CISS db key 2012-08 2017-12-29
unknown. The condition was first identified in the Sardinian population, but it temperature and other abnormalities affecting many parts of the body. In related-gene gene-symbol ghr-page CNTF receptor-related disorders GTR C1848947
has since been reported in regions worldwide. infancy, the features of this condition are often known as Crisponi syndrome. CRLF1 https://ghr.nlm.nih.gov/gene/CRLF1 Crisponi syndrome db key
Researchers originally thought that cold-induced sweating syndrome and Crisponi Sohar-Crisponi syndrome GTR C1853198
syndrome were separate disorders, but it is now widely believed that they db key
represent the same condition at different times during life. GTR C4310742
html:p Infants with Crisponi syndrome have unusual facial features, including a flat db key
nasal bridge, upturned nostrils, a long space between the nose and upper lip GTR CN043579
(philtrum), a high arched roof of the mouth (palate), a small chin db key
(micrognathia), and low-set ears. The muscles in the lower part of the face are GTR CN169295
weak, leading to severe feeding difficulties, excessive drooling, and breathing db key
problems. Other physical abnormalities associated with Crisponi syndrome include GeneReviews ciss
a scaly skin rash, an inability to fully extend the elbows, overlapping fingers db key
and tightly fisted hands, and malformations of the feet and toes. Affected MeSH D000015
infants startle easily and often tense their facial muscles into a grimace-like db key
expression. By six months of age, infants with Crisponi syndrome develop MeSH D005334
unexplained high fevers that increase the risk of seizures and sudden death. db key
html:p Many of the health problems associated with Crisponi syndrome improve with time, OMIM 272430
and affected individuals who survive the newborn period go on to develop other db key
features of cold-induced sweating syndrome in early childhood. Within the first OMIM 610313
decade of life, affected individuals begin having episodes of profuse sweating db key
(hyperhidrosis) and shivering involving the face, torso, and arms. The excessive OMIM 617055
sweating is usually triggered by exposure to temperatures below about 65 or 70 db key
degrees Fahrenheit, but it can also be triggered by nervousness or eating sugary Orphanet 1545
foods. Paradoxically, affected individuals tend not to sweat in warmer db key
conditions, instead becoming flushed and overheated in hot environments. Orphanet 157820
html:p Adolescents with cold-induced sweating syndrome typically develop abnormal db key
side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, SNOMED CT 702363009
often called kyphoscoliosis when they occur together). Although infants may
develop life-threatening fevers, affected individuals who survive infancy have a
normal life expectancy.
related-gene-list
Cole disease https://ghr.nlm.nih.gov/condition/cole-disease Cole disease is a rare disease; its prevalence is unknown. Only a few html:p Cole disease is a disorder that affects the skin. People with this disorder have ad autosomal dominant ENPP1 https://ghr.nlm.nih.gov/gene/ENPP1 guttate hypopigmentation and punctate palmoplantar keratoderma with or without db key 2015-01 2017-12-29
affected families have been described in the medical literature. areas of unusually light-colored skin (hypopigmentation), typically on the arms ectopic calcification GTR C3809781
and legs, and spots of thickened skin on the palms of the hands and the soles db key
of the feet (punctate palmoplantar keratoderma). These skin features are present ICD-10-CM L85.2
at birth or develop in the first year of life. db key
html:p In some cases, individuals with Cole disease develop abnormal accumulations of MeSH D007645
the mineral calcium (calcifications) in the tendons, which can cause pain during db key
movement. Calcifications may also occur in the skin or breast tissue. OMIM 615522
db key
related-gene-list SNOMED CT 711154007
Collagen VI-related myopathy https://ghr.nlm.nih.gov/condition/collagen-vi-related-myopathy Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to html:p Collagen VI-related myopathy is a group of disorders that affect skeletal ad autosomal dominant COL6A1 https://ghr.nlm.nih.gov/gene/COL6A1 collagen type VI-related disorders db key 2015-10 2017-12-29
occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy (先天性肌失養症) muscles (which are the muscles used for movement) and connective tissue (which code memo related-gene gene-symbol ghr-page collagen VI-related myopathies GTR C0410179
is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the provides strength and flexibility to the skin, joints, and other structures ar autosomal recessive COL6A2 https://ghr.nlm.nih.gov/gene/COL6A2 ColVI myopathies db key
intermediate form have been described in the scientific literature. throughout the body). Most affected individuals have muscle weakness and joint related-gene gene-symbol ghr-page GTR C1834674
deformities called contractures that restrict movement of the affected joints COL6A3 https://ghr.nlm.nih.gov/gene/COL6A3 db key
and worsen over time. Researchers have described several forms of collagen GTR CN117976
VI-related myopathy, which range in severity: Bethlem myopathy is the mildest, db key
an intermediate form is moderate in severity, and Ullrich congenital muscular GTR CN230143
dystrophy is the most severe. db key
html:p People with Bethlem myopathy usually have loose joints (joint laxity) and weak GeneReviews bethlem
muscle tone (hypotonia) in infancy, but they develop contractures during db key
childhood, typically in their fingers, wrists, elbows, and ankles. Muscle MeSH D009136
weakness can begin at any age but often appears in childhood to early adulthood. db key
The muscle weakness is slowly progressive, with about two-thirds of affected OMIM 158810
individuals over age 50 needing walking assistance. Older individuals may db key
develop weakness in respiratory muscles, which can cause breathing problems. OMIM 254090
Some people with this mild form of collagen VI-related myopathy have skin db key
abnormalities, including small bumps called follicular hyperkeratosis on the Orphanet 610
arms and legs; soft, velvety skin on the palms of the hands and soles of the db key
feet; and abnormal wound healing that creates shallow scars. Orphanet 75840
html:p The intermediate form of collagen VI-related myopathy is characterized by muscle db key
weakness that begins in infancy. Affected children are able to walk, although SNOMED CT 193222002
walking becomes increasingly difficult starting in early adulthood. They develop db key
contractures in the ankles, elbows, knees, and spine in childhood. In some SNOMED CT 240062007
affected people, the respiratory muscles are weakened, requiring people to use a
machine to help them breathe (mechanical ventilation), particularly during
sleep.
html:p People with Ullrich congenital muscular dystrophy (先天性肌失養症) have severe muscle weakness
beginning soon after birth. Some affected individuals are never able to walk and
others can walk only with support. Those who can walk often lose the ability,
usually in adolescence. Individuals with Ullrich congenital muscular dystrophy
develop contractures in their neck, hips, and knees, which further impair
movement. There may be joint laxity in the fingers, wrists, toes, ankles, and
other joints. Some affected individuals need continuous mechanical ventilation
to help them breathe. As in Bethlem myopathy, some people with Ullrich
congenital muscular dystrophy have follicular hyperkeratosis; soft, velvety skin
on the palms and soles; and abnormal wound healing.
html:p Individuals with collagen VI-related myopathy often have signs and symptoms of
multiple forms of this condition, so it can be difficult to assign a specific
diagnosis. The overlap in disease features, in addition to their common cause,
is why these once separate conditions are now considered part of the same
disease spectrum.
related-gene-list
Coloboma https://ghr.nlm.nih.gov/condition/coloboma Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does html:p Coloboma is an eye abnormality that occurs before birth. Colobomas are missing ad autosomal dominant GDF3 https://ghr.nlm.nih.gov/gene/GDF3 congenital ocular coloboma db key 2011-11 2017-12-29
(Eye) not always affect vision or the outward appearance of the eye, some people with pieces of tissue in structures that form the eye. They may appear as notches or code memo related-gene gene-symbol ghr-page microphthalmia, isolated, with coloboma GTR C0009363
this condition are likely undiagnosed. gaps in one of several parts of the eye, including the colored part of the eye ar autosomal recessive GDF6 https://ghr.nlm.nih.gov/gene/GDF6 ocular coloboma db key
called the iris; the retina, which is the specialized light-sensitive tissue code memo related-gene gene-symbol ghr-page uveoretinal coloboma GeneReviews anophthalmia-ov
that lines the back of the eye; the blood vessel layer under the retina called n not inherited MAF https://ghr.nlm.nih.gov/gene/MAF db key
the choroid; or the optic nerves, which carry information from the eyes to the code memo related-gene gene-symbol ghr-page ICD-10-CM H47.31
brain. xd X-linked dominant OTX2 https://ghr.nlm.nih.gov/gene/OTX2 db key
html:p Colobomas may be present in one or both eyes and, depending on their size and code memo related-gene gene-symbol ghr-page ICD-10-CM H47.311
location, can affect a person's vision. Colobomas affecting the iris, which xr X-linked recessive PAX6 https://ghr.nlm.nih.gov/gene/PAX6 db key
result in a "keyhole" appearance of the pupil, generally do not lead to vision related-gene gene-symbol ghr-page ICD-10-CM H47.312
loss. Colobomas involving the retina result in vision loss in specific parts of SHH https://ghr.nlm.nih.gov/gene/SHH db key
the visual field, generally the upper part. Large retinal colobomas or those related-gene gene-symbol ghr-page ICD-10-CM H47.313
affecting the optic nerve can cause low vision, which means vision loss that VSX2 https://ghr.nlm.nih.gov/gene/VSX2 db key
cannot be completely corrected with glasses or contact lenses. ICD-10-CM H47.319
html:p Some people with coloboma also have a condition called microphthalmia. In this db key
condition, one or both eyeballs are abnormally small. In some affected ICD-10-CM Q12.2
individuals, the eyeball may appear to be completely missing; however, even in db key
these cases some remaining eye tissue is generally present. Such severe ICD-10-CM Q13.0
microphthalmia should be distinguished from another condition called db key
anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia MeSH D003103
and severe microphthalmia are often used interchangeably. Microphthalmia may or db key
may not result in significant vision loss. OMIM 120200
html:p People with coloboma may also have other eye abnormalities, including clouding db key
of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) OMIM 216820
that can damage the optic nerve, vision problems such as nearsightedness db key
(myopia), involuntary back-and-forth eye movements (nystagmus), or separation of SNOMED CT 93390002
the retina from the back of the eye (retinal detachment).
html:p Some individuals have coloboma as part of a syndrome that affects other organs
and tissues in the body. These forms of the condition are described as
syndromic. When coloboma occurs by itself, it is described as nonsyndromic or
isolated.
html:p Colobomas involving the eyeball should be distinguished from gaps that occur in
the eyelids. While these eyelid gaps are also called colobomas, they arise from
abnormalities in different structures during early development.
related-gene-list
Color vision deficiency https://ghr.nlm.nih.gov/condition/color-vision-deficiency Red-green color vision defects are the most common form of color vision html:p Color vision deficiency (sometimes called color blindness) represents a group of ad autosomal dominant OPN1LW https://ghr.nlm.nih.gov/gene/OPN1LW color blindness db key 2015-01 2017-12-29
deficiency. This condition affects males much more often than females. Among conditions that affect the perception of color. Red-green color vision defects code memo related-gene gene-symbol ghr-page color vision defects GTR C0155015
populations with Northern European ancestry, it occurs in about 1 in 12 males are the most common form of color vision deficiency. Affected individuals have xr X-linked recessive OPN1MW https://ghr.nlm.nih.gov/gene/OPN1MW defective color vision db key
and 1 in 200 females. Red-green color vision defects have a lower incidence in trouble distinguishing between some shades of red, yellow, and green. related-gene gene-symbol ghr-page vision defect, color GTR C0155016
almost all other populations studied.Blue-yellow color vision defects affect Blue-yellow color vision defects (also called tritan defects), which are rarer, OPN1SW https://ghr.nlm.nih.gov/gene/OPN1SW db key
males and females equally. This condition occurs in fewer than 1 in 10,000 cause problems with differentiating shades of blue and green and cause GTR C0155017
people worldwide.Blue cone monochromacy is rarer than the other forms of color difficulty distinguishing dark blue from black. These two forms of color vision db key
vision deficiency, affecting about 1 in 100,000 people worldwide. Like red-green deficiency disrupt color perception but do not affect the sharpness of vision GTR C0339537
color vision defects, blue cone monochromacy affects males much more often than (visual acuity). db key
females. html:p A less common and more severe form of color vision deficiency called blue cone GTR CN043660
monochromacy causes very poor visual acuity and severely reduced color vision. db key
Affected individuals have additional vision problems, which can include ICD-10-CM H53.5
increased sensitivity to light (photophobia), involuntary back-and-forth eye db key
movements (nystagmus), and nearsightedness (myopia). Blue cone monochromacy is ICD-10-CM H53.50
sometimes considered to be a form of achromatopsia, a disorder characterized by db key
a partial or total lack of color vision with other vision problems. ICD-10-CM H53.51
db key
ICD-10-CM H53.52
db key
ICD-10-CM H53.53
db key
ICD-10-CM H53.54
db key
ICD-10-CM H53.55
db key
ICD-10-CM H53.59
db key
MeSH D003117
db key
OMIM 190900
db key
OMIM 303700
db key
OMIM 303800
db key
OMIM 303900
db key
Orphanet 16
db key
Orphanet 319691
db key
Orphanet 319698
db key
SNOMED CT 193683001
db key
SNOMED CT 24704003
db key
SNOMED CT 367469000
db key
SNOMED CT 51445007
db key
SNOMED CT 51886007
db key
related-gene-list SNOMED CT 77479002
Combined malonic and methylmalonic aciduria https://ghr.nlm.nih.gov/condition/combined-malonic-and-methylmalonic-aciduria CMAMMA appears to be a rare disease. Approximately a dozen cases have been html:p Combined malonic and methylmalonic aciduria (CMAMMA) is a condition ar autosomal recessive ACSF3 https://ghr.nlm.nih.gov/gene/ACSF3 CMAMMA db key 2013-01 2017-12-29
reported in the scientific literature. characterized by high levels of certain chemicals, known as malonic acid and GTR C3280314
methylmalonic acid, in the body. A distinguishing feature of this condition is db key
higher levels of methylmalonic acid than malonic acid in the urine, although MeSH D008661
both are elevated. db key
html:p The signs and symptoms of CMAMMA can begin in childhood. In some children, the OMIM 614265
buildup of acids causes the blood to become too acidic (ketoacidosis), which can db key
damage the body's tissues and organs. Other signs and symptoms may include Orphanet 289504
involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), db key
developmental delay, an inability to grow and gain weight at the expected rate SNOMED CT 702365002
(failure to thrive), low blood sugar (hypoglycemia), and coma. Some affected
children have an unusually small head size (microcephaly).
html:p Other people with CMAMMA do not develop signs and symptoms until adulthood.
These individuals usually have neurological problems, such as seizures, loss of
memory, a decline in thinking ability, or psychiatric diseases.
related-gene-list
Combined oxidative phosphorylation deficiency 1 https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency- Combined oxidative phosphorylation deficiency 1 is likely a rare disorder, html:p Combined oxidative phosphorylation deficiency 1 is a severe condition that ar autosomal recessive GFM1 https://ghr.nlm.nih.gov/gene/GFM1 COXPD1 db key 2017-09 2017-12-29
1 although its prevalence is unknown. At least 12 affected individuals have been primarily impairs neurological and liver function. early fatal progressive hepatoencephalopathy GTR C1836797
described in the scientific literature. html:p Most people with combined oxidative phosphorylation deficiency 1 have severe hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 db key
brain dysfunction (encephalopathy) that worsens over time; they also have MeSH D028361
difficulty growing and gaining weight at the expected rate (failure to thrive). db key
In some cases, affected individuals have abnormal muscle tone (increased or OMIM 609060
decreased), developmental delay, seizures, loss of sensation in the limbs db key
(peripheral neuropathy), and an unusually small head (microcephaly). Liver Orphanet 137681
disease is common in people with combined oxidative phosphorylation deficiency
1, with individuals quickly developing liver failure. Individuals with this
condition also usually have a potentially life-threatening buildup of a chemical
called lactic acid in the body (lactic acidosis).
html:p The neurological features of combined oxidative phosphorylation deficiency 1 are
largely due to brain abnormalities that include thinning of the tissue that
connects the two halves of the brain (corpus callosum hypoplasia) and loss of
brain tissue called white matter (leukodystrophy), particularly in an area of
the brain called the basal ganglia, which normally helps control movement.
html:p Individuals with combined oxidative phosphorylation deficiency 1 usually do not
survive past early childhood, although some people live longer.
related-gene-list
Combined pituitary hormone deficiency https://ghr.nlm.nih.gov/condition/combined-pituitary-hormone-deficiency The prevalence of combined pituitary hormone deficiency is estimated to be html:p Combined pituitary hormone deficiency is a condition that causes a shortage ad autosomal dominant GLI2 https://ghr.nlm.nih.gov/gene/GLI2 CPHD db key 2010-08 2017-12-29
1 in 8,000 individuals worldwide. (deficiency) of several hormones produced by the pituitary gland, which is code memo related-gene gene-symbol ghr-page panhypopituitarism GTR C0878683
located at the base of the brain. A lack of these hormones may affect the ar autosomal recessive HESX1 https://ghr.nlm.nih.gov/gene/HESX1 db key
development of many parts of the body. The first signs of this condition include related-gene gene-symbol ghr-page GTR C1857330
a failure to grow at the expected rate and short stature that usually becomes LHX3 https://ghr.nlm.nih.gov/gene/LHX3 db key
apparent in early childhood. related-gene gene-symbol ghr-page GTR C2678408
html:p People with combined pituitary hormone deficiency may have hypothyroidism, which LHX4 https://ghr.nlm.nih.gov/gene/LHX4 db key
is underactivity of the butterfly-shaped thyroid gland in the lower neck. related-gene gene-symbol ghr-page GTR C2750026
Hypothyroidism can cause many symptoms, including weight gain and fatigue. Other OTX2 https://ghr.nlm.nih.gov/gene/OTX2 db key
features of combined pituitary hormone deficiency include delayed or absent related-gene gene-symbol ghr-page GTR C2751608
puberty and lack the ability to have biological children (infertility). The POU1F1 https://ghr.nlm.nih.gov/gene/POU1F1 db key
condition can also be associated with a deficiency of the hormone cortisol. related-gene gene-symbol ghr-page GTR C3151440
Cortisol deficiency can impair the body's immune system, causing individuals to PROKR2 https://ghr.nlm.nih.gov/gene/PROKR2 db key
be more susceptible to infection. related-gene gene-symbol ghr-page GTR CN206774
html:p Rarely, people with combined pituitary hormone deficiency have intellectual PROP1 https://ghr.nlm.nih.gov/gene/PROP1 db key
disability; a short, stiff neck; or underdeveloped optic nerves, which carry related-gene gene-symbol ghr-page GeneReviews prop1
visual information from the eyes to the brain. SOX2 https://ghr.nlm.nih.gov/gene/SOX2 db key
ICD-10-CM E23.0
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MeSH D007018
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OMIM 221750
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OMIM 262600
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OMIM 262700
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OMIM 613038
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SNOMED CT 190470005
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SNOMED CT 237682009
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SNOMED CT 237683004
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SNOMED CT 32390006
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SNOMED CT 367460001
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SNOMED CT 71003000
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related-gene-list SNOMED CT 91187007
Common variable immune deficiency https://ghr.nlm.nih.gov/condition/common-variable-immune-deficiency CVID is estimated to affect 1 in 25,000 to 1 in 50,000 people worldwide, html:p Common variable immune deficiency (CVID) is a disorder that impairs the immune ad autosomal dominant CD19 https://ghr.nlm.nih.gov/gene/CD19 common variable hypogammaglobulinemia db key 2016-05 2017-12-29
常見的變異免疫缺陷 although the prevalence can vary across different populations. system. People with CVID are highly susceptible to infection from foreign code memo related-gene gene-symbol ghr-page common variable immunodeficiency GTR C0009447
invaders such as bacteria, or more rarely, viruses and often develop recurrent ar autosomal recessive CD81 https://ghr.nlm.nih.gov/gene/CD81 CVID db key
infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in code memo related-gene gene-symbol ghr-page immunodeficiency, common variable GTR C3149378
people with CVID. Over time, recurrent infections can lead to chronic lung u pattern unknown CR2 https://ghr.nlm.nih.gov/gene/CR2 db key
disease. Affected individuals may also experience infection or inflammation of related-gene gene-symbol ghr-page GTR C3150354
the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal ICOS https://ghr.nlm.nih.gov/gene/ICOS db key
accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an related-gene gene-symbol ghr-page GTR C3150738
enlarged spleen (splenomegaly) in some people with CVID. Immune cells can IKZF1 https://ghr.nlm.nih.gov/gene/IKZF1 db key
accumulate in other organs, forming small lumps called granulomas. related-gene gene-symbol ghr-page GTR C3150739
html:p Approximately 25 percent of people with CVID have an autoimmune disorder, which IL21 https://ghr.nlm.nih.gov/gene/IL21 db key
occurs when the immune system malfunctions and attacks the body's tissues and related-gene gene-symbol ghr-page GTR C3150740
organs. The blood cells are most frequently affected by autoimmune attacks in LRBA https://ghr.nlm.nih.gov/gene/LRBA db key
CVID; the most commonly occurring autoimmune disorders are immune related-gene gene-symbol ghr-page GTR C3150741
thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a MS4A1 https://ghr.nlm.nih.gov/gene/MS4A1 db key
decrease in cell fragments involved in blood clotting called platelets, and related-gene gene-symbol ghr-page GTR C3542922
autoimmune hemolytic anemia, which results in premature destruction of red blood NFKB1 https://ghr.nlm.nih.gov/gene/NFKB1 db key
cells. Other autoimmune disorders such as rheumatoid arthritis can occur. related-gene gene-symbol ghr-page GTR C3553512
Individuals with CVID also have a greater than normal risk of developing certain NFKB2 https://ghr.nlm.nih.gov/gene/NFKB2 db key
types of cancer, including a cancer of immune system cells called non-Hodgkin related-gene gene-symbol ghr-page GTR C3809928
lymphoma and less frequently, stomach (gastric) cancer. PRKCD https://ghr.nlm.nih.gov/gene/PRKCD db key
html:p People with CVID may start experiencing signs and symptoms of the disorder related-gene gene-symbol ghr-page GTR C3809991
anytime between childhood and adulthood; most people with CVID are diagnosed in TNFRSF13B https://ghr.nlm.nih.gov/gene/TNFRSF13B db key
their twenties or thirties. The life expectancy of individuals with CVID varies related-gene gene-symbol ghr-page GTR C4014258
depending on the severity and frequency of illnesses they experience. Most TNFRSF13C https://ghr.nlm.nih.gov/gene/TNFRSF13C db key
people with CVID live into adulthood. GTR C4225277
html:p There are many different types of CVID that are distinguished by genetic cause. db key
People with the same type of CVID may have varying signs and symptoms. ICD-10-CM D83
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ICD-10-CM D83.0
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ICD-10-CM D83.8
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ICD-10-CM D83.9
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MeSH D017074
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OMIM 240500
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OMIM 607594
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OMIM 613493
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OMIM 613494
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OMIM 613495
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OMIM 613496
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OMIM 614699
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OMIM 614700
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OMIM 615559
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OMIM 615577
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OMIM 615767
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OMIM 616576
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OMIM 616873
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Orphanet 1572
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SNOMED CT 191011000
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related-gene-list SNOMED CT 23238000
Complement component 2 deficiency https://ghr.nlm.nih.gov/condition/complement-component-2-deficiency In Western countries, complement component 2 deficiency is estimated to html:p Complement component 2 deficiency is a disorder that causes the immune system to ar autosomal recessive C2 https://ghr.nlm.nih.gov/gene/C2 C2 deficiency db key 2014-06 2017-12-29
補體成分2缺乏症 affect 1 in 20,000 individuals; its prevalence in other areas of the world is malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are C2D GTR C3150275
unknown. conditions in which the immune system is not able to protect the body complement 2 deficiency db key
effectively from foreign invaders such as bacteria and viruses. People with MeSH D007153
complement component 2 deficiency have a significantly increased risk of db key
recurrent bacterial infections, specifically of the lungs (pneumonia), the OMIM 217000
membrane covering the brain and spinal cord (meningitis), and the blood db key
(sepsis), which may be life-threatening. These infections most commonly occur in Orphanet 169147
infancy and childhood and become less frequent in adolescence and adulthood. db key
html:p Complement component 2 deficiency is also associated with an increased risk of SNOMED CT 234599007
developing autoimmune disorders such as systemic lupus erythematosus (SLE) or
vasculitis. Autoimmune disorders occur when the immune system malfunctions and
attacks the body's tissues and organs. Between 10 and 20 percent of individuals
with complement component 2 deficiency develop SLE. Females with complement
component 2 deficiency are more likely to have SLE than affected males, but this
is also true of SLE in the general population.
html:p The severity of complement component 2 deficiency varies widely. While some
affected individuals experience recurrent infections and other immune system
difficulties, others do not have any health problems related to the disorder.
inheritance-pattern-list related-gene-list
Complement component 8 deficiency https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency Complement component 8 deficiency is a rare disorder, although its html:p Complement component 8 deficiency is a disorder that causes the immune system to ar autosomal recessive C8A synonym db-key db key 2015-12 2017-12-29
補體成分8缺乏症 prevalence is unknown. Type I occurs in several populations, particularly in malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are related-gene gene-symbol GTR C3151080
people with Hispanic, Japanese, or African Caribbean heritage, whereas type II conditions in which the immune system is not able to protect the body C8B db-key db key
primarily occurs in people of Northern European descent. effectively from foreign invaders such as bacteria. People with complement GTR C3151081
component 8 deficiency have a significantly increased risk of recurrent db-key db key
html:i ICD-10-CM D84.1
Neisseria meningitidis db-key db key
MeSH D007153
db-key db key
OMIM 613789
html:p The severity of complement component 8 deficiency varies widely. While some db-key db key
people with this condition experience one or more infections, others do not have OMIM 613790
any health problems related to the disorder. db-key db key
html:p There are two types of complement component 8 deficiency, types I and II, Orphanet 33475
classified by their genetic cause. The two types have the same signs and db-key db key
symptoms. SNOMED CT 234614005
db-key db key
related-gene-list SNOMED CT 234616007
Complement factor I deficiency https://ghr.nlm.nih.gov/condition/complement-factor-i-deficiency Complement factor I deficiency is a rare disorder; its exact prevalence is html:p Complement factor I deficiency is a disorder that affects the immune system. ar autosomal recessive CFI https://ghr.nlm.nih.gov/gene/CFI C3 inactivator deficiency db key 2010-09 2017-12-29
補體成分1缺乏症 unknown. At least 38 cases have been reported in the medical literature. People with this condition are prone to recurrent infections, including complement component 3 inactivator deficiency GTR C0019250
infections of the upper respiratory tract, ears, skin, and urinary tract. They hereditary factor I deficiency disease db key
may also contract more serious infections such as pneumonia, meningitis, and MeSH D007153
sepsis, which may be life-threatening. db key
html:p Some people with complement factor I deficiency have a kidney disorder called OMIM 610984
glomerulonephritis with isolated C3 deposits. Complement factor I deficiency can db key
also be associated with autoimmune disorders such as rheumatoid arthritis or SNOMED CT 234621005
systemic lupus erythematosus (SLE). Autoimmune disorders occur when the immune
system malfunctions and attacks the body's tissues and organs.
related-gene-list
Complete LCAT deficiency https://ghr.nlm.nih.gov/condition/complete-lcat-deficiency Complete LCAT deficiency is a rare disorder. Approximately 70 cases have html:p Complete LCAT deficiency is a disorder that primarily affects the eyes and ar autosomal recessive LCAT https://ghr.nlm.nih.gov/gene/LCAT familial LCAT deficiency db key 2013-08 2017-12-29
been reported in the medical literature. kidneys. familial lecithin-cholesterol acyltransferase deficiency GTR C0023195
html:p In complete LCAT deficiency, the clear front surface of the eyes (the corneas) FLD db key
gradually becomes cloudy. The cloudiness, which generally first appears in early LCAT deficiency MeSH D007863
childhood, consists of small grayish dots of cholesterol (opacities) lecithin acyltransferase deficiency db key
distributed across the corneas. Cholesterol is a waxy, fat-like substance that lecithin:cholesterol acyltransferase deficiency OMIM 245900
is produced in the body and obtained from foods that come from animals; it aids Norum disease db key
in many functions of the body but can become harmful in excessive amounts. As Norum's disease Orphanet 79293
complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead db key
to severely impaired vision. SNOMED CT 238091006
html:p People with complete LCAT deficiency often have kidney disease that begins in
adolescence or early adulthood. The kidney problems get worse over time and may
eventually lead to kidney failure. Individuals with this disorder also usually
have a condition known as hemolytic anemia, in which red blood cells are broken
down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells
(anemia). Anemia can cause pale skin, weakness, fatigue, and more serious
complications.
html:p Other features of complete LCAT deficiency that occur in some affected
individuals include enlargement of the liver (hepatomegaly), spleen
(splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty
deposits on the artery walls (atherosclerosis).
related-gene-list
Complete plasminogen activator inhibitor 1 deficiency https://ghr.nlm.nih.gov/condition/complete-plasminogen-activator-inhibitor-1-def Complete PAI-1 deficiency is a rare disorder; its prevalence is unknown. It html:p Complete plasminogen activator inhibitor 1 deficiency (complete PAI-1 ar autosomal recessive SERPINE1 https://ghr.nlm.nih.gov/gene/SERPINE1 complete PAI-1 deficiency db key 2017-10 2017-12-29
（Bleeding） iciency has been well studied in a large family belonging to the Old Order Amish deficiency) is a disorder that causes abnormal bleeding. In people with this congenital plasminogen activator inhibitor type 1 deficiency GTR C2750067
population of eastern and southern Indiana. Additional cases in North America, disorder, bleeding associated with injury can be excessive and last longer than homozygous PAI-1 deficiency db key
Europe, and Asia have been described in the medical literature.Complete PAI-1 usual. hyperfibrinolysis due to PAI1 deficiency GeneReviews pai-1-def
deficiency is inherited equally by both sexes, but tends to be diagnosed earlier html:p Individuals with complete PAI-1 deficiency may experience prolonged nosebleeds, PAI-1 deficiency db key
and more frequently in females because of its effects on menstruation, excessive bleeding after medical or dental procedures, easy bruising, and PAI-1D MeSH D025861
pregnancy, and childbirth. significant bleeding into the joints or soft tissues after even a minor injury. PAI1 deficiency db key
Internal bleeding after an injury, especially bleeding around the brain plasminogen activator inhibitor type 1 deficiency OMIM 613329
(intracranial hemorrhage), can be life-threatening. Affected females may have plasminogen inhibitor-1 deficiency db key
excessive bleeding associated with menstruation (menorrhagia) and abnormal quantitative PAI-1 deficiency Orphanet 465
bleeding in pregnancy and childbirth. db key
html:p In addition to bleeding problems, some people with complete PAI-1 deficiency SNOMED CT 717407006
develop scar tissue in the heart (cardiac fibrosis), which can lead to heart
failure.
related-gene-list
Cone-rod dystrophy https://ghr.nlm.nih.gov/condition/cone-rod-dystrophy Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 html:p Cone-rod dystrophy is a group of related eye disorders that causes vision loss, ad autosomal dominant ABCA4 https://ghr.nlm.nih.gov/gene/ABCA4 cone-rod degeneration db key 2016-02 2017-12-29
individuals. which becomes more severe over time. These disorders affect the retina, which is code memo related-gene gene-symbol ghr-page cone-rod retinal dystrophy GTR C1423873
the layer of light-sensitive tissue at the back of the eye. In people with ar autosomal recessive ADAM9 https://ghr.nlm.nih.gov/gene/ADAM9 CORD db key
cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina code memo related-gene gene-symbol ghr-page CRD GTR C1832976
gradually deteriorate. xr X-linked recessive AIPL1 https://ghr.nlm.nih.gov/gene/AIPL1 retinal cone-rod dystrophy db key
html:p The first signs and symptoms of cone-rod dystrophy, which often occur in related-gene gene-symbol ghr-page tapetoretinal degeneration GTR C1833564
childhood, are usually decreased sharpness of vision (visual acuity) and C8orf37 https://ghr.nlm.nih.gov/gene/C8orf37 db key
increased sensitivity to light (photophobia). These features are typically related-gene gene-symbol ghr-page GTR C1835865
followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in C21orf2 https://ghr.nlm.nih.gov/gene/C21orf2 db key
the center of the visual field, and partial side (peripheral) vision loss. Over related-gene gene-symbol ghr-page GTR C1844776
time, affected individuals develop night blindness and a worsening of their CACNA1F https://ghr.nlm.nih.gov/gene/CACNA1F db key
peripheral vision, which can limit independent mobility. Decreasing visual related-gene gene-symbol ghr-page GTR C1845407
acuity makes reading increasingly difficult and most affected individuals are CACNA2D4 https://ghr.nlm.nih.gov/gene/CACNA2D4 db key
legally blind by mid-adulthood. As the condition progresses, individuals may related-gene gene-symbol ghr-page GTR C1846529
develop involuntary eye movements (nystagmus). CDHR1 https://ghr.nlm.nih.gov/gene/CDHR1 db key
html:p There are more than 30 types of cone-rod dystrophy, which are distinguished by related-gene gene-symbol ghr-page GTR C1854180
their genetic cause and their pattern of inheritance: autosomal recessive, CERKL https://ghr.nlm.nih.gov/gene/CERKL db key
autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur related-gene gene-symbol ghr-page GTR C1858806
alone without any other signs and symptoms or it can occur as part of a syndrome CNGA3 https://ghr.nlm.nih.gov/gene/CNGA3 db key
that affects multiple parts of the body. related-gene gene-symbol ghr-page GTR C1863634
CNGB3 https://ghr.nlm.nih.gov/gene/CNGB3 db key
related-gene gene-symbol ghr-page GTR C1866293
CNNM4 https://ghr.nlm.nih.gov/gene/CNNM4 db key
related-gene gene-symbol ghr-page GTR C2675210
CRB1 https://ghr.nlm.nih.gov/gene/CRB1 db key
related-gene gene-symbol ghr-page GTR C2750720
CRX https://ghr.nlm.nih.gov/gene/CRX db key
related-gene gene-symbol ghr-page GTR C2751764
EYS https://ghr.nlm.nih.gov/gene/EYS db key
related-gene gene-symbol ghr-page GTR C3150912
GUCA1A https://ghr.nlm.nih.gov/gene/GUCA1A db key
related-gene gene-symbol ghr-page GTR C3281045
GUCY2D https://ghr.nlm.nih.gov/gene/GUCY2D db key
related-gene gene-symbol ghr-page GTR C3554610
KCNV2 https://ghr.nlm.nih.gov/gene/KCNV2 db key
related-gene gene-symbol ghr-page GTR C3809299
PDE6C https://ghr.nlm.nih.gov/gene/PDE6C db key
related-gene gene-symbol ghr-page GTR C4014501
PITPNM3 https://ghr.nlm.nih.gov/gene/PITPNM3 db key
related-gene gene-symbol ghr-page GTR C4014856
POC1B https://ghr.nlm.nih.gov/gene/POC1B db key
related-gene gene-symbol ghr-page GTR C4085590
PROM1 https://ghr.nlm.nih.gov/gene/PROM1 db key
related-gene gene-symbol ghr-page GTR CN074280
PRPH2 https://ghr.nlm.nih.gov/gene/PRPH2 db key
related-gene gene-symbol ghr-page GTR CN231743
RAB28 https://ghr.nlm.nih.gov/gene/RAB28 db key
related-gene gene-symbol ghr-page ICD-10-CM H35.52
RAX2 https://ghr.nlm.nih.gov/gene/RAX2 db key
related-gene gene-symbol ghr-page MeSH D000071700
RIMS1 https://ghr.nlm.nih.gov/gene/RIMS1 db key
related-gene gene-symbol ghr-page OMIM 120970
RPGR https://ghr.nlm.nih.gov/gene/RPGR db key
related-gene gene-symbol ghr-page OMIM 300085
RPGRIP1 https://ghr.nlm.nih.gov/gene/RPGRIP1 db key
related-gene gene-symbol ghr-page OMIM 300476
SEMA4A https://ghr.nlm.nih.gov/gene/SEMA4A db key
related-gene gene-symbol ghr-page OMIM 304020
TTLL5 https://ghr.nlm.nih.gov/gene/TTLL5 db key
related-gene gene-symbol ghr-page OMIM 600624
TULP1 https://ghr.nlm.nih.gov/gene/TULP1 db key
related-gene gene-symbol ghr-page OMIM 600977
UNC119 https://ghr.nlm.nih.gov/gene/UNC119 db key
OMIM 601777
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OMIM 602093
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OMIM 603649
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OMIM 604116
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OMIM 605549
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OMIM 608194
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OMIM 610283
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OMIM 610381
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OMIM 612657
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OMIM 612775
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OMIM 615163
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OMIM 615374
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OMIM 615860
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OMIM 615973
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OMIM 616502
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Orphanet 1872
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related-gene-list SNOMED CT 80328002
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency https://ghr.nlm.nih.gov/condition/congenital-adrenal-hyperplasia-due-to-11-beta- CAH due to 11-beta-hydroxylase deficiency accounts for 5 to 8 percent of html:p Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is ar autosomal recessive CYP11B1 https://ghr.nlm.nih.gov/gene/CYP11B1 11 beta hydroxylase deficiency db key 2011-03 2017-12-29
先天性腎上腺增生症 hydroxylase-deficiency all cases of congenital adrenal hyperplasia. It is estimated that CAH due to one of a group of disorders (collectively called congenital adrenal hyperplasia) 11b hydroxylase deficiency GTR C0268292
11-beta-hydroxylase deficiency occurs in 1 in 100,000 to 200,000 newborns. This that affect the adrenal glands. The adrenal glands are located on top of the adrenal hyperplasia, hypertensive form db key
condition is more common in Moroccan Jews living in Israel, occurring in kidneys and produce a variety of hormones that regulate many essential functions deficiency of steroid 11-beta-monooxygenase ICD-10-CM E25.0
approximately 1 in 5,000 to 7,000 newborns. The classic form of CAH due to in the body. In people with CAH due to 11-beta-hydroxylase deficiency, the P450C11B1 deficiency db key
11-beta-hydroxylase deficiency appears to be much more common than the adrenal glands produce excess androgens, which are male sex hormones. steroid 11 beta hydroxylase deficiency MeSH D000312
non-classic form. html:p There are two types of CAH due to 11-beta-hydroxylase deficiency, the classic db key
form and the non-classic form. The classic form is the more severe of the two OMIM 202010
types. db key
html:p Females with the classic form of CAH due to 11-beta-hydroxylase deficiency have Orphanet 90795
external genitalia that do not look clearly male or female (ambiguous db key
genitalia). However, the internal reproductive organs develop normally. Males SNOMED CT 124214007
and females with the classic form of this condition have early development of db key
their secondary sexual characteristics such as growth of facial and pubic hair, SNOMED CT 237751000
deepening of the voice, appearance of acne, and onset of a growth spurt. The
early growth spurt can prevent growth later in adolescence and lead to short
stature in adulthood. In addition, approximately two-thirds of individuals with
the classic form of CAH due to 11-beta-hydroxylase deficiency have high blood
pressure (hypertension). Hypertension typically develops within the first year
of life.
html:p Females with the non-classic form of CAH due to 11-beta-hydroxylase deficiency
have normal female genitalia. As affected females get older, they may develop
excessive body hair growth (hirsutism) and irregular menstruation. Males with
the non-classic form of this condition do not typically have any signs or
symptoms except for short stature. Hypertension is not a feature of the
non-classic form of CAH due to 11-beta-hydroxylase deficiency.
related-gene-list
Congenital afibrinogenemia https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia Congenital afibrinogenemia is a rare condition that occurs in approximately html:p Congenital afibrinogenemia is a bleeding disorder caused by impairment of the ar autosomal recessive FGA https://ghr.nlm.nih.gov/gene/FGA afibrinogenemia db key 2014-09 2017-12-29
先天性纖維蛋白原血症 1 in 1 million newborns. blood clotting process. Normally, blood clots protect the body after an injury related-gene gene-symbol ghr-page familial afibrinogenemia GTR C0019250
（Bleeding） by sealing off damaged blood vessels and preventing further blood loss. However, FGB https://ghr.nlm.nih.gov/gene/FGB db key
bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns related-gene gene-symbol ghr-page MeSH D000347
with this condition often experience prolonged bleeding from the umbilical cord FGG https://ghr.nlm.nih.gov/gene/FGG db key
stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue OMIM 202400
are common and can occur after minor trauma or in the absence of injury db key
(spontaneous bleeding). Some affected individuals experience bleeding into the Orphanet 98880
spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding db key
in the brain or other internal organs occurs, which can be fatal. Women with SNOMED CT 154818001
congenital afibrinogenemia can have abnormally heavy menstrual bleeding
(menorrhagia). Without proper treatment, women with this disorder may have
difficulty carrying a pregnancy to term, resulting in repeated miscarriages.
related-gene-list
Congenital bilateral absence of the vas deferens https://ghr.nlm.nih.gov/condition/congenital-bilateral-absence-of-the-vas-defere This condition is responsible for 1 percent to 2 percent of all infertility html:p Congenital bilateral absence of the vas deferens occurs in males when the tubes ar autosomal recessive CFTR https://ghr.nlm.nih.gov/gene/CFTR Absence of vas deferens db key 2008-01 2017-12-29
ns in men. that carry sperm out of the testes (the vas deferens) fail to develop properly. Absent vasa GTR C0403814
Although the testes usually develop and function normally, sperm cannot be CAVD db key
transported through the vas deferens to become part of semen. As a result, men CBAVD GeneReviews cf
with this condition are unable to father children (infertile) unless they use Congenital absence of vas deferens db key
assisted reproductive technologies. This condition has not been reported to Congenital aplasia of vas deferens ICD-10-CM Q55.3
affect sex drive or sexual performance. congenital bilateral absence of vas deferens db key
html:p This condition can occur alone or as a sign of cystic fibrosis, an inherited MeSH D052801
disease of the mucus glands. Cystic fibrosis causes progressive damage to the db key
respiratory system and chronic digestive system problems. Many men with OMIM 277180
congenital bilateral absence of the vas deferens do not have the other db key
characteristic features of cystic fibrosis; however, some men with this Orphanet 48
condition may experience mild respiratory or digestive problems. db key
SNOMED CT 275416002
db key
related-gene-list SNOMED CT 5286009
Congenital bile acid synthesis defect type 1 https://ghr.nlm.nih.gov/condition/congenital-bile-acid-synthesis-defect-type-1 The prevalence of congenital bile acid synthesis defect type 1 is unknown; html:p Congenital bile acid synthesis defect type 1 is a disorder characterized by ar autosomal recessive HSD3B7 https://ghr.nlm.nih.gov/gene/HSD3B7 3beta-HSDH deficiency db key 2015-04 2017-12-29
先天性胆酸合成障碍 however, it is the most common of all the congenital defects of bile acid cholestasis, a condition that impairs the production and release of a digestive 3beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency GTR C1843116
Inborn Errors of Bile Acid Synthesis synthesis. Together, these conditions are thought to have a prevalence of 1 to 9 fluid called bile from liver cells. Bile is used during digestion to absorb fats 3beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency db key
per million people. and fat-soluble vitamins, such as vitamins A, D, E, and K. People with CBAS1 MeSH D002779
congenital bile acid synthesis defect type 1 cannot produce (synthesize) bile db key
acids, which are a component of bile that stimulate bile flow and help it absorb OMIM 607765
fats and fat-soluble vitamins. As a result, an abnormal form of bile is db key
produced. Orphanet 79168
html:p The signs and symptoms of congenital bile acid synthesis defect type 1 often db key
develop during the first weeks of life, but they can begin anytime from infancy Orphanet 79301
into adulthood. Affected infants often have a failure to gain weight and grow at db key
the expected rate (failure to thrive) and yellowing of the skin and eyes SNOMED CT 235915002
(jaundice) due to impaired bile flow and a buildup of partially formed bile. db key
Excess fat in the feces (steatorrhea) is an additional feature of congenital SNOMED CT 238033007
bile acid synthesis defect type 1. As the condition progresses, affected
individuals can develop liver abnormalities including an enlarged liver
(hepatomegaly), inflammation, or chronic liver disease (cirrhosis). The spleen
may also become enlarged (splenomegaly). The inability to absorb certain
fat-soluble vitamins (vitamin D in particular) can result in softening and
weakening of the bones (rickets) in some individuals.
html:p If left untreated, congenital bile acid synthesis defect type 1 often leads to
cirrhosis and death in childhood.
related-gene-list
Congenital bile acid synthesis defect type 2 https://ghr.nlm.nih.gov/condition/congenital-bile-acid-synthesis-defect-type-2 The prevalence of congenital bile acid synthesis defect type 2 is unknown. html:p Congenital bile acid synthesis defect type 2 is a disorder characterized by ar autosomal recessive AKR1D1 https://ghr.nlm.nih.gov/gene/AKR1D1 CBAS2 db key 2015-04 2017-12-29
先天性胆酸合成障碍 Together, all congenital defects of bile acid synthesis are thought to have a cholestasis, a condition that impairs the production and release of a digestive cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency GTR C1856127
prevalence of 1 to 9 per million people. fluid called bile from liver cells. Bile is used during digestion to absorb fats db key
and fat-soluble vitamins, such as vitamins A, D, E, and K. People with MeSH D002779
congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile db key
acids, which are a component of bile that stimulate bile flow and help it absorb OMIM 235555
fats and fat-soluble vitamins. As a result, an abnormal form of bile is db key
produced. Orphanet 79168
html:p The signs and symptoms of congenital bile acid synthesis defect type 2 often db key
develop in infancy. Affected infants usually have a failure to gain weight and Orphanet 79303
grow at the expected rate (failure to thrive) and yellowing of the skin and eyes db key
(jaundice) due to impaired bile flow and a buildup of partially formed bile. SNOMED CT 235915002
Excess fat in the feces (steatorrhea) is another feature of congenital bile acid db key
synthesis defect type 2. As the condition progresses, affected individuals can SNOMED CT 238035000
develop liver abnormalities including inflammation or chronic liver disease
(cirrhosis). Some individuals with congenital bile acid synthesis defect type 2
cannot absorb certain fat-soluble vitamins, which can result in softening and
weakening of the bones (rickets) or problems with blood clotting that lead to
prolonged bleeding.
html:p If left untreated, congenital bile acid synthesis defect type 2 typically leads
to cirrhosis and death in childhood.
related-gene-list
Congenital cataracts, facial dysmorphism, and neuropathy https://ghr.nlm.nih.gov/condition/congenital-cataracts-facial-dysmorphism-and-ne The prevalence of CCFDN is unknown. The disorder has been identified in html:p Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare ar autosomal recessive CTDP1 https://ghr.nlm.nih.gov/gene/CTDP1 CCFDN db key 2010-04 2017-12-29
uropathy about 150 individuals of Romani ethnicity. Thus far, no affected individuals disorder that affects several parts of the body. It is characterized by a GTR C1858726
have been observed outside this community. clouding of the lens of the eyes at birth (congenital cataracts) and other eye db key
abnormalities, such as small or poorly developed eyes (microphthalmia) and GeneReviews ccfdn
abnormal eye movements (nystagmus). Affected individuals, particularly males, db key
often have distinctive facial features that become more apparent as they reach MeSH D015417
adulthood. These features include a prominent midface, a large nose, protruding db key
teeth, and a small lower jaw. OMIM 604168
html:p CCFDN causes progressive damage to the peripheral nerves, which connect the db key
brain and spinal cord to muscles and sensory cells. This nerve damage is known Orphanet 48431
as peripheral neuropathy. Weakness in the legs, followed by the arms, begins in db key
the first few years of life, and as a result children with CCFDN have delayed SNOMED CT 702433001
development of motor skills such as standing and walking. In adolescence,
affected individuals develop sensory abnormalities such as numbness and
tingling, mainly in the legs. By adulthood they typically have significant
difficulties with mobility. Muscle weakness can also lead to skeletal
abnormalities such as hand and foot deformities and abnormal curvature of the
spine.
html:p People with CCFDN may have problems with balance and coordination (ataxia),
tremors, and difficulty with movements that involve judging distance or scale
(dysmetria). Some have mild intellectual disability. Individuals with CCFDN have
short stature, are typically underweight, and have reduced bone density.
html:p A complication called rhabdomyolysis occurs in some people with CCFDN, typically
following a viral infection or, in rare cases, during or after surgery.
Rhabdomyolysis is a breakdown of muscle tissue that results in severe muscle
weakness. The destruction of muscle tissue releases a protein called myoglobin,
which is processed by the kidneys and released in the urine (myoglobinuria). The
presence of myoglobin causes the urine to be red or brown. The muscles may take
up to a year to recover, and the episodes may worsen the muscle weakness caused
by the neuropathy.
related-gene-list
Congenital central hypoventilation syndrome, CCHS https://ghr.nlm.nih.gov/condition/congenital-central-hypoventilation-syndrome CCHS is a relatively rare disorder. Approximately 1,000 individuals with html:p Congenital central hypoventilation syndrome (CCHS) is a disorder that affects ad autosomal dominant PHOX2B https://ghr.nlm.nih.gov/gene/PHOX2B CCHS db key 2008-09 2017-12-29
先天中樞性換氣不足症候群 this condition have been identified. Researchers believe that some cases of breathing. People with this disorder take shallow breaths (hypoventilate), congenital central hypoventilation GTR C1275808
sudden infant death syndrome (SIDS) or sudden unexplained death in children may especially during sleep, resulting in a shortage of oxygen and a buildup of congenital failure of autonomic control db key
be caused by undiagnosed CCHS. carbon dioxide in the blood. Ordinarily, the part of the nervous system that Haddad syndrome GeneReviews ondine
controls involuntary body processes (autonomic nervous system) would react to Ondine-Hirschsprung disease db key
such an imbalance by stimulating the individual to breathe more deeply or wake Ondine Syndrome ICD-10-CM G47.35
up. This reaction is impaired in people with CCHS, and they must be supported db key
with a machine to help them breathe (mechanical ventilation) or a device that MeSH D020182
stimulates a normal breathing pattern (diaphragm pacemaker). Some affected db key
individuals need this support 24 hours a day, while others need it only at OMIM 209880
night. db key
html:p Symptoms of CCHS usually become apparent shortly after birth. Affected infants Orphanet 661
hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or db key
lips (cyanosis). Cyanosis is caused by lack of oxygen in the blood. In some SNOMED CT 399040002
milder cases, CCHS may be diagnosed later in life. In addition to the breathing
problem, people with this disorder may have difficulty regulating their heart
rate and blood pressure, for example in response to exercise or changes in body
position. They may have abnormalities in the nerves that control the digestive
tract (Hirschsprung disease), resulting in severe constipation, intestinal
blockage, and enlargement of the colon. They are also at increased risk of
developing certain tumors of the nervous system called neuroblastomas,
ganglioneuromas, and ganglioneuroblastomas. Some affected individuals develop
learning difficulties or other neurological problems, which may be worsened by
oxygen deprivation if treatment to support their breathing is not completely
effective.
html:p Individuals with CCHS usually have eye abnormalities, including a decreased
response of the pupils to light. They also have decreased perception of pain,
low body temperature, and occasional episodes of profuse sweating.
html:p People with CCHS, especially children, may have a characteristic appearance with
a short, wide, somewhat flattened face often described as "box-shaped." Life
expectancy and the extent of any cognitive disabilities depend on the severity
of the disorder, timing of the diagnosis, and the success of treatment.
related-gene-list
Congenital contractural arachnodactyly https://ghr.nlm.nih.gov/condition/congenital-contractural-arachnodactyly The prevalence of congenital contractural arachnodactyly is estimated to be html:p Congenital contractural arachnodactyly is a disorder that affects many parts of ad autosomal dominant FBN2 https://ghr.nlm.nih.gov/gene/FBN2 arthrogyroposis, distal, type 9 db key 2013-07 2017-12-29
先天性挛缩细长指（趾） less than 1 in 10,000 worldwide. the body. People with this condition typically are tall with long limbs Beals-Hecht syndrome GTR C0220668
先天性攣縮蜘蛛樣指 (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They Beals syndrome db key
Beals Syndrome often have permanently bent joints (contractures) that can restrict movement in CCA GeneReviews cca
畢耳氏症候群 their hips, knees, ankles, or elbows. Additional features of congenital contractural arachnodactyly, congenital db key
contractural arachnodactyly include underdeveloped muscles, a rounded upper back DA9 MeSH D001176
that also curves to the side (kyphoscoliosis), permanently bent fingers and distal arthrogyropsis type 9 db key
toes (camptodactyly), ears that look "crumpled," and a protruding chest (pectus OMIM 121050
carinatum). Rarely, people with congenital contractural arachnodactyly have db key
heart defects such as an enlargement of the blood vessel that distributes blood Orphanet 115
from the heart to the rest of the body (aortic root dilatation) or a leak in one db key
of the valves that control blood flow through the heart (mitral valve SNOMED CT 205821003
prolapse). The life expectancy of individuals with congenital contractural
arachnodactyly varies depending on the severity of symptoms but is typically not
shortened.
html:p A rare, severe form of congenital contractural arachnodactyly involves both
heart and digestive system abnormalities in addition to the skeletal features
described above; individuals with this severe form of the condition usually do
not live past infancy.
related-gene-list
Congenital deafness with labyrinthine aplasia, microtia, and microdontia https://ghr.nlm.nih.gov/condition/congenital-deafness-with-labyrinthine-aplasia- LAMM syndrome is a rare condition, although its prevalence is unknown. html:p Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also ar autosomal recessive FGF3 https://ghr.nlm.nih.gov/gene/FGF3 congenital deafness with inner ear agenesis, microtia, and microdontia db key 2012-11 2017-12-29
先天性耳聾 microtia-and-microdontia Approximately a dozen affected families have been identified. called LAMM syndrome) is a condition that affects development of the ears and deafness with LAMM GTR C1853144
teeth. In people with this condition, the structures that form the inner ear are LAMM syndrome db key
usually completely absent (labyrinthine aplasia). Rarely, affected individuals GeneReviews df-lamm
have some underdeveloped inner ear structures in one or both ears. The db key
abnormalities of the inner ear cause a form of hearing loss called sensorineural MeSH D006311
deafness that is present from birth (congenital). Because the inner ear is db key
important for balance as well as hearing, development of motor skills, such as Orphanet 90024
sitting and crawling, may be delayed in affected infants. In addition, people db key
with LAMM syndrome often have abnormally small outer ears (microtia) with narrow SNOMED CT 702360007
ear canals. They can also have unusually small, widely spaced teeth
(microdontia).
related-gene-list
Congenital diaphragmatic hernia https://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia Congenital diaphragmatic hernia affects approximately 1 in 2,500 newborns. html:p Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, u pattern unknown GATA4 https://ghr.nlm.nih.gov/gene/GATA4 congenital diaphragmatic defect db key 2013-09 2017-12-29
先天性橫膈疝氣 which is composed of muscle and other fibrous tissue, separates the organs in related-gene gene-symbol ghr-page GTR C1840644
the abdomen from those in the chest. Abnormal development of the diaphragm ZFPM2 https://ghr.nlm.nih.gov/gene/ZFPM2 db key
before birth leads to defects ranging from a thinned area in the diaphragm to GTR C1857284
its complete absence. An absent or partially formed diaphragm results in an db key
abnormal opening (hernia) that allows the stomach and intestines to move into GTR C1857781
the chest cavity and crowd the heart and lungs. This crowding can lead to db key
underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in GeneReviews cdh-ov
life-threatening breathing difficulties that are apparent from birth. db key
html:p In 5 to 10 percent of affected individuals, signs and symptoms of congenital ICD-10-CM Q79.0
diaphragmatic hernia appear later in life and may include breathing problems or db key
abdominal pain from protrusion of the intestine into the chest cavity. In about MeSH D006548
1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be db key
detected incidentally when medical imaging is done for other reasons. OMIM 142340
html:p Congenital diaphragmatic hernias are often classified by their position. A db key
Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 OMIM 222400
and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani db key
hernia is a defect involving the front part of the diaphragm. This type of OMIM 610187
congenital diaphragmatic hernia, which accounts for approximately 2 percent of db key
cases, is less likely to cause severe symptoms at birth. Other types of Orphanet 2140
congenital diaphragmatic hernia, such as those affecting the central region of db key
the diaphragm, or those in which the diaphragm muscle is absent with only a thin SNOMED CT 17190001
membrane in its place, are rare.
related-gene-list
Congenital dyserythropoietic anemia https://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia Several hundred cases of CDA have been reported worldwide. CDA type II is html:p Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that ad autosomal dominant CDAN1 https://ghr.nlm.nih.gov/gene/CDAN1 Anemia, Dyserythropoietic, Congenital db key 2009-07 2017-12-29
先天性红细胞生成异常性贫血 the most common form of the disorder, with more than 300 reported cases. CDA affects the development of red blood cells. This disorder is one of many types code memo related-gene gene-symbol ghr-page CDA GTR C0002876
type III is the rarest form; it has been described in only a few families from of anemia, which is a condition characterized by a shortage of red blood cells. ar autosomal recessive SEC23B https://ghr.nlm.nih.gov/gene/SEC23B db key
Sweden, Argentina, and the United States. The incidence of CDA type I is This shortage prevents the blood from carrying an adequate supply of oxygen to GeneReviews cda1
unknown. Because CDA is so rare and its signs and symptoms overlap with those of the body's tissues. The resulting symptoms can include tiredness (fatigue), db key
other disorders, many cases likely remain undiagnosed or are incorrectly weakness, pale skin, and other complications. ICD-10-CM D64.4
diagnosed as other disorders. html:p Researchers have identified three major types of CDA: type I, type II, and type db key
III. The types have different genetic causes and different but overlapping MeSH D000742
patterns of signs and symptoms. db key
html:p CDA type I is characterized by moderate to severe anemia. It is usually OMIM 105600
diagnosed in childhood or adolescence, although in some cases, the condition can db key
be detected before birth. Many affected individuals have yellowing of the skin OMIM 224100
and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This db key
condition also causes the body to absorb too much iron, which builds up and can OMIM 224120
damage tissues and organs. In particular, iron overload can lead to an abnormal db key
heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver Orphanet 85
disease (cirrhosis). Rarely, people with CDA type I are born with skeletal db key
abnormalities, most often involving the fingers and/or toes. SNOMED CT 26409005
html:p The anemia associated with CDA type II can range from mild to severe, and most db key
affected individuals have jaundice, hepatosplenomegaly, and the formation of SNOMED CT 52951008
hard deposits in the gallbladder called gallstones. This form of the disorder is db key
usually diagnosed in adolescence or early adulthood. An abnormal buildup of SNOMED CT 59548005
iron typically occurs after age 20, leading to complications including heart db key
disease, diabetes, and cirrhosis. SNOMED CT 68870007
html:p The signs and symptoms of CDA type III tend to be milder than those of the other
types. Most affected individuals do not have hepatosplenomegaly, and iron does
not build up in tissues and organs. In adulthood, abnormalities of a specialized
tissue at the back of the eye (the retina) can cause vision impairment. Some
people with CDA type III also have a blood disorder known as monoclonal
gammopathy, which can lead to a cancer of white blood cells (multiple myeloma).
html:p Several other variants of CDA have been described, although they appear to be
rare and not much is known about them. Once researchers discover the genetic
causes of these variants, some of them may be grouped with the three major types
of CDA.
related-gene-list
Congenital fiber-type disproportion https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion Congenital fiber-type disproportion is thought to be a rare condition, html:p Congenital fiber-type disproportion is a condition that primarily affects ad autosomal dominant ACTA1 https://ghr.nlm.nih.gov/gene/ACTA1 CFTD db key 2016-05 2017-12-29
先天性纤维型失调 although its prevalence is unknown. skeletal muscles, which are muscles used for movement. People with this code memo related-gene gene-symbol ghr-page CFTDM GTR C0546264
(skeletal muscle) condition typically experience muscle weakness (myopathy), particularly in the ar autosomal recessive MYH7 https://ghr.nlm.nih.gov/gene/MYH7 congenital myopathy 先天性肌肉病變 with fiber type disproportion db key
muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect code memo related-gene gene-symbol ghr-page GeneReviews cftd
the muscles of the face and muscles that control eye movement x X-linked RYR1 https://ghr.nlm.nih.gov/gene/RYR1 db key
(ophthalmoplegia眼肌), sometimes causing droopy eyelids (ptosis). Individuals with related-gene gene-symbol ghr-page MeSH D020914
congenital fiber-type disproportion generally have a long face, a high arch in TPM2 https://ghr.nlm.nih.gov/gene/TPM2 db key
the roof of the mouth (high-arched palate), and crowded teeth. Affected related-gene gene-symbol ghr-page Orphanet 2020
individuals may have joint deformities (contractures) and an abnormally curved TPM3 https://ghr.nlm.nih.gov/gene/TPM3 db key
lower back (lordosis) or a spine that curves to the side (scoliosis). SNOMED CT 240084007
Approximately 30 percent of people with this disorder experience mild to severe
breathing problems related to weakness of muscles needed for breathing. Some
people who experience these breathing problems require use of a machine to help
regulate their breathing at night (noninvasive mechanical ventilation), and
occasionally during the day as well. About 30 percent of affected individuals
have difficulty swallowing due to muscle weakness in the throat. Rarely, people
with this condition have a weakened and enlarged heart muscle (dilated
cardiomyopathy).
html:p The severity of congenital fiber-type disproportion varies widely. It is
estimated that up to 25 percent of affected individuals experience severe muscle
weakness at birth and die in infancy or childhood. Others have only mild muscle
weakness that becomes apparent in adulthood. Most often, the signs and symptoms
of this condition appear by age 1. The first signs of this condition are
usually decreased muscle tone (hypotonia) and muscle weakness. In most cases,
muscle weakness does not worsen over time, and in some instances it may improve.
Although motor skills such as standing and walking may be delayed, many
affected children eventually learn to walk. These individuals often have less
stamina than their peers, but they remain active. Rarely, people with this
condition have a progressive decline in muscle strength over time. These
individuals may lose the ability to walk and require wheelchair assistance.
related-gene-list
Congenital fibrosis of the extraocular muscles （CFEOM） https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles CFEOM1 is the most common form of congenital fibrosis of the extraocular html:p Congenital fibrosis of the extraocular muscles is a disorder that affects the ad autosomal dominant KIF21A https://ghr.nlm.nih.gov/gene/KIF21A CFEOM db key 2009-03 2017-12-29
先天性眼外肌纖維化 muscles, affecting at least 1 in 230,000 people. CFEOM1 and CFEOM3 have been muscles that surround the eyes. These muscles control eye movement and the code memo related-gene gene-symbol ghr-page congenital external ophthalmoplegia GTR CN043677
reported worldwide, whereas CFEOM2 has been seen in only a few families of position of the eyes (for example, looking straight ahead). Congenital fibrosis ar autosomal recessive PHOX2A https://ghr.nlm.nih.gov/gene/PHOX2A congenital fibrosis of extraocular muscles db key
Turkish, Saudi Arabian, and Iranian descent. Tukel syndrome appears to be very of the extraocular muscles prevents the normal development and function of these congenital fibrosis syndrome GeneReviews cfeom
rare; it has been diagnosed in only one large Turkish family. muscles. As a result, affected individuals are unable to move their eyes general fibrosis syndrome db key
normally. Most people with this condition have difficulty looking upward, and MeSH D015785
their side-to-side eye movement may also be limited. The eyes may be misaligned db key
such that they look in different directions (strabismus). Instead of moving OMIM 135700
their eyes, affected individuals may need to turn their head to track moving db key
objects. Additionally, many people with congenital fibrosis of the extraocular OMIM 600638
muscles have droopy eyelids (ptosis), which further limits their vision. db key
html:p Researchers have identified at least four forms of congenital fibrosis of the OMIM 602078
extraocular muscles, designated CFEOM1, CFEOM2, CFEOM3, and Tukel syndrome. The db key
specific problems with eye movement vary among the types. Tukel syndrome is OMIM 609428
characterized by missing fingers (oligodactyly) and other hand abnormalities in db key
addition to problems with eye movement. Orphanet 45358
db key
SNOMED CT 204217005
db key
related-gene-list SNOMED CT 400946004
Congenital generalized lipodystrophy https://ghr.nlm.nih.gov/condition/congenital-generalized-lipodystrophy Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 html:p Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital ar autosomal recessive AGPAT2 https://ghr.nlm.nih.gov/gene/AGPAT2 Berardinelli-Seip congenital lipodystrophy db key 2016-01 2017-12-29
先天性全身脂質營養不良症 million people worldwide. Between 300 and 500 people with the condition have lipodystrophy) is a rare condition characterized by an almost total lack of related-gene gene-symbol ghr-page Berardinelli-Seip syndrome GTR C0221032
(lipodystrophy) been described in the medical literature. Although this condition has been fatty (adipose) tissue in the body and a very muscular appearance. Adipose BSCL2 https://ghr.nlm.nih.gov/gene/BSCL2 Brunzell syndrome (with bone cysts) db key
reported in populations around the world, it appears to be more common in tissue is found in many parts of the body, including beneath the skin and related-gene gene-symbol ghr-page BSCL GTR C1720862
certain regions of Lebanon and Brazil. surrounding the internal organs. It stores fat for energy and also provides CAV1 https://ghr.nlm.nih.gov/gene/CAV1 generalized lipodystrophy db key
cushioning. Congenital generalized lipodystrophy is part of a group of related related-gene gene-symbol ghr-page lipodystrophy, congenital generalized GTR C1720863
disorders known as lipodystrophies, which are all characterized by a loss of CAVIN1 https://ghr.nlm.nih.gov/gene/CAVIN1 Seip syndrome db key
adipose tissue. A shortage of adipose tissue leads to the storage of fat total lipodystrophy GTR C2675861
elsewhere in the body, such as in the liver and muscles, which causes serious db key
health problems. GTR C2750069
html:p The signs and symptoms of congenital generalized lipodystrophy are usually db key
apparent from birth or early childhood. One of the most common features is GeneReviews bscl
insulin resistance, a condition in which the body's tissues are unable to db key
recognize insulin, a hormone that normally helps to regulate blood sugar levels. MeSH D052497
Insulin resistance may develop into a more serious disease called diabetes db key
mellitus. Most affected individuals also have high levels of fats called OMIM 269700
triglycerides circulating in the bloodstream (hypertriglyceridemia), which can db key
lead to the development of small yellow deposits of fat under the skin called OMIM 608594
eruptive xanthomas and inflammation of the pancreas (pancreatitis). db key
Additionally, congenital generalized lipodystrophy causes an abnormal buildup of OMIM 612526
fats in the liver (hepatic steatosis), which can result in an enlarged liver db key
(hepatomegaly) and liver failure. Some affected individuals develop a form of OMIM 613327
heart disease called hypertrophic cardiomyopathy, which can lead to heart db key
failure and an abnormal heart rhythm (arrhythmia) that can cause sudden death. Orphanet 528
html:p People with congenital generalized lipodystrophy have a distinctive physical db key
appearance. They appear very muscular because they have an almost complete SNOMED CT 284449005
absence of adipose tissue and an overgrowth of muscle tissue. A lack of adipose
tissue under the skin also makes the veins appear prominent. Affected
individuals tend to have a large chin, prominent bones above the eyes (orbital
ridges), large hands and feet, and a prominent belly button (umbilicus).
Affected females may have an enlarged clitoris (clitoromegaly), an increased
amount of body hair (hirsutism), irregular menstrual periods, and multiple cysts
on the ovaries, which may be related to hormonal changes. Many people with this
disorder develop acanthosis nigricans, a skin condition related to high levels
of insulin in the bloodstream. Acanthosis nigricans causes the skin in body
folds and creases to become thick, dark, and velvety.
html:p Researchers have described four types of congenital generalized lipodystrophy,
which are distinguished by their genetic cause. The types also have some
differences in their typical signs and symptoms. For example, in addition to the
features described above, some people with congenital generalized lipodystrophy
type 1 develop cysts in the long bones of the arms and legs after puberty. Type
2 can be associated with intellectual disability, which is usually mild to
moderate. Type 3 appears to cause poor growth and short stature, along with
other health problems. Type 4 is associated with muscle weakness, delayed
development, joint abnormalities, a narrowing of the lower part of the stomach
(pyloric stenosis), and severe arrhythmia that can lead to sudden death.
related-gene-list
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects https://ghr.nlm.nih.gov/condition/congenital-hemidysplasia-with-ichthyosiform-er CHILD syndrome is a rare disorder; it has been reported in about 60 people html:p Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more xd X-linked dominant NSDHL https://ghr.nlm.nih.gov/gene/NSDHL CHILD syndrome db key 2008-07 2017-12-29
ythroderma-and-limb-defects worldwide. This condition occurs almost exclusively in females. commonly known by the acronym CHILD syndrome, is a condition that affects the Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, GTR C0265267
development of several parts of the body. The signs and symptoms of this especially absence deformity of limbs db key
disorder are typically limited to either the right side or the left side of the GeneReviews nsdhl-dis
body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The db key
right side is affected about twice as often as the left side. MeSH D016113
html:p People with CHILD syndrome have a skin condition characterized by large patches db key
of skin that are red and inflamed (erythroderma) and covered with flaky scales OMIM 308050
(ichthyosis). This condition is most likely to occur in skin folds and creases db key
and usually does not affect the face. The skin abnormalities are present at Orphanet 139
birth and persist throughout life. db key
html:p CHILD syndrome also disrupts the formation of the arms and legs during early SNOMED CT 17608003
development. Children with this disorder may be born with one or more limbs
that are shortened or missing. The limb abnormalities occur on the same side of
the body as the skin abnormalities.
html:p Additionally, CHILD syndrome may affect the development of the brain, heart,
lungs, and kidneys.
synonym-list db-key-list
Congenital hepatic fibrosis https://ghr.nlm.nih.gov/condition/congenital-hepatic-fibrosis Isolated congenital hepatic fibrosis is rare. Its prevalence is unknown. html:p Congenital hepatic fibrosis is a disease of the liver that is present from ad autosomal dominant synonym congenital fibrose liver key 2017-12-29
The total prevalence of syndromes that include congenital hepatic fibrosis as a birth. The liver has many important functions, including producing various code memo db-key C0009714
feature is estimated to be 1 in 10,000 to 20,000 individuals. substances needed by the body and breaking down other substances into smaller ar autosomal recessive key
parts to be used or eliminated. code memo db-key hepatic-fibrosis
html:p Congenital hepatic fibrosis is characterized by malformation of the bile ducts xr X-linked recessive key
and the blood vessels of the hepatic portal system. Bile ducts carry bile (a db-key D008107
fluid that helps to digest fats) from the liver to the gallbladder and small key
intestine. The hepatic portal system is a branching network of veins (portal 79607001
veins) that carry blood from the gastrointestinal tract to the liver for
processing.
html:p A buildup of scar tissue (fibrosis) in the portal tracts also occurs in this
disorder. Portal tracts are structures in the liver that bundle the vessels
through which blood, lymph, and bile flow. Lymph is a fluid that helps exchange
immune cells, proteins, and other substances between the blood and tissues.
Fibrosis in the portal tracts can restrict the normal movement of fluids in
these vessels.
html:p Constriction of the portal veins due to malformation and portal tract fibrosis
results in high blood pressure in the hepatic portal system (portal
hypertension). Portal hypertension impairs the flow of blood from the
gastrointestinal tract, causing an increase in pressure in the veins of the
esophagus, stomach, and intestines. These veins may stretch and their walls may
become thin, leading to a risk of abnormal bleeding.
html:p People with congenital hepatic fibrosis have an enlarged liver and spleen
(hepatosplenomegaly). The liver is also abnormally shaped. Affected individuals
also have an increased risk of infection of the bile ducts (cholangitis), hard
deposits in the gallbladder or bile ducts (gallstones), and cancer of the liver
or gallbladder.
html:p Congenital hepatic fibrosis may occur alone, in which case it is called isolated
congenital hepatic fibrosis. More frequently, it occurs as a feature of genetic
syndromes that also affect the kidneys, such as polycystic kidney disease
(PKD).
related-gene-list
Congenital hyperinsulinism https://ghr.nlm.nih.gov/condition/congenital-hyperinsulinism Congenital hyperinsulinism affects approximately 1 in 50,000 newborns. This html:p Congenital hyperinsulinism is a condition that causes individuals to have ad autosomal dominant ABCC8 https://ghr.nlm.nih.gov/gene/ABCC8 hyperinsulinemia hypoglycemia of infancy db key 2014-01 2017-12-29
先天性胰岛素过多症 condition is more common in certain populations, affecting up to 1 in 2,500 abnormally high levels of insulin, which is a hormone that helps control blood code memo related-gene gene-symbol ghr-page infancy hyperinsulinemia hypoglycemia GTR C0027773
newborns. sugar levels. People with this condition have frequent episodes of low blood ar autosomal recessive GCK https://ghr.nlm.nih.gov/gene/GCK neonatal hyperinsulinism db key
sugar (hypoglycemia). In infants and young children, these episodes are related-gene gene-symbol ghr-page persistent hyperinsulinemia hypoglycemia of infancy GTR C1257959
characterized by a lack of energy (lethargy), irritability, or difficulty GLUD1 https://ghr.nlm.nih.gov/gene/GLUD1 persistent hyperinsulinemic hypoglycemia db key
feeding. Repeated episodes of low blood sugar increase the risk for serious related-gene gene-symbol ghr-page PHHI hypoglycemia GTR C1847555
complications such as breathing difficulties, seizures, intellectual disability, HADH https://ghr.nlm.nih.gov/gene/HADH db key
vision loss, brain damage, and coma. related-gene gene-symbol ghr-page GTR C1864902
html:p The severity of congenital hyperinsulinism varies widely among affected HNF1A https://ghr.nlm.nih.gov/gene/HNF1A db key
individuals, even among members of the same family. About 60 percent of infants related-gene gene-symbol ghr-page GTR C1864948
with this condition experience a hypoglycemic episode within the first month of HNF4A https://ghr.nlm.nih.gov/gene/HNF4A db key
life. Other affected children develop hypoglycemia by early childhood. Unlike related-gene gene-symbol ghr-page GTR C1864952
typical episodes of hypoglycemia, which occur most often after periods without KCNJ11 https://ghr.nlm.nih.gov/gene/KCNJ11 db key
food (fasting) or after exercising, episodes of hypoglycemia in people with related-gene gene-symbol ghr-page GTR C1865290
congenital hyperinsulinism can also occur after eating. SLC16A1 https://ghr.nlm.nih.gov/gene/SLC16A1 db key
related-gene gene-symbol ghr-page GTR C3888018
UCP2 https://ghr.nlm.nih.gov/gene/UCP2 db key
GeneReviews hi
db key
ICD-10-CM E16.1
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MeSH D044903
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OMIM 256450
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OMIM 601820
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OMIM 602485
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OMIM 606762
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OMIM 609968
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OMIM 609975
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OMIM 610021
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Orphanet 657
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related-gene-list SNOMED CT 360339005
Congenital hypothyroidism https://ghr.nlm.nih.gov/condition/congenital-hypothyroidism Congenital hypothyroidism affects an estimated 1 in 2,000 to 4,000 html:p Congenital hypothyroidism is a partial or complete loss of function of the ad autosomal dominant DUOX2 https://ghr.nlm.nih.gov/gene/DUOX2 CH db key 2015-09 2017-12-29
先天性甲狀腺機能低下症 newborns. For reasons that remain unclear, congenital hypothyroidism affects thyroid gland (hypothyroidism) that affects infants from birth (congenital). The code memo related-gene gene-symbol ghr-page CHT GTR C0010308
more than twice as many females as males. thyroid gland is a butterfly-shaped tissue in the lower neck. It makes ar autosomal recessive DUOXA2 https://ghr.nlm.nih.gov/gene/DUOXA2 congenital myxedema db key
iodine-containing hormones that play an important role in regulating growth, related-gene gene-symbol ghr-page cretinism GTR C0342196
brain development, and the rate of chemical reactions in the body (metabolism). IYD https://ghr.nlm.nih.gov/gene/IYD db key
People with congenital hypothyroidism have lower-than-normal levels of these related-gene gene-symbol ghr-page GTR C1291299
important hormones. NKX2-5 https://ghr.nlm.nih.gov/gene/NKX2-5 db key
html:p Congenital hypothyroidism occurs when the thyroid gland fails to develop or related-gene gene-symbol ghr-page GTR C1563716
function properly. In 80 to 85 percent of cases, the thyroid gland is absent, PAX8 https://ghr.nlm.nih.gov/gene/PAX8 db key
severely reduced in size (hypoplastic), or abnormally located. These cases are related-gene gene-symbol ghr-page GTR C1846632
classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or SLC5A5 https://ghr.nlm.nih.gov/gene/SLC5A5 db key
enlarged thyroid gland (goiter) is present, but production of thyroid hormones related-gene gene-symbol ghr-page GTR C1848805
is decreased or absent. Most of these cases occur when one of several steps in SLC26A4 https://ghr.nlm.nih.gov/gene/SLC26A4 db key
the hormone synthesis process is impaired; these cases are classified as thyroid related-gene gene-symbol ghr-page GTR C3493776
dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone TG https://ghr.nlm.nih.gov/gene/TG db key
production is caused by impaired stimulation of the production process (which is related-gene gene-symbol ghr-page ICD-10-CM E03.0
normally done by a structure at the base of the brain called the pituitary THRA https://ghr.nlm.nih.gov/gene/THRA db key
gland), even though the process itself is unimpaired. These cases are classified related-gene gene-symbol ghr-page ICD-10-CM E03.1
as central (or pituitary) hypothyroidism. TPO https://ghr.nlm.nih.gov/gene/TPO db key
html:p Signs and symptoms of congenital hypothyroidism result from the shortage of related-gene gene-symbol ghr-page ICD-10-CM E03.8
thyroid hormones. Affected babies may show no features of the condition, TRHR https://ghr.nlm.nih.gov/gene/TRHR db key
although some babies with congenital hypothyroidism are less active and sleep related-gene gene-symbol ghr-page ICD-10-CM E03.9
more than normal. They may have difficulty feeding and experience constipation. TSHB https://ghr.nlm.nih.gov/gene/TSHB db key
If untreated, congenital hypothyroidism can lead to intellectual disability and related-gene gene-symbol ghr-page MeSH D003409
slow growth. In the United States and many other countries, all hospitals test TSHR https://ghr.nlm.nih.gov/gene/TSHR db key
newborns for congenital hypothyroidism. If treatment begins in the first two OMIM 218700
weeks after birth, infants usually develop normally. db key
html:p Congenital hypothyroidism can also occur as part of syndromes that affect other OMIM 274400
organs and tissues in the body. These forms of the condition are described as db key
syndromic. Some common forms of syndromic hypothyroidism include Pendred OMIM 274500
syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome. db key
OMIM 274900
db key
OMIM 275200
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OMIM 607200
db key
Orphanet 442
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SNOMED CT 190268003
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SNOMED CT 237515009
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SNOMED CT 278503003
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SNOMED CT 367524008
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SNOMED CT 64491003
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related-gene-list SNOMED CT 75065003
Congenital insensitivity to pain https://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain Congenital insensitivity to pain is a rare condition; about 20 cases have html:p Congenital insensitivity to pain is a condition that inhibits the ability to ar autosomal recessive SCN9A https://ghr.nlm.nih.gov/gene/SCN9A asymbolia for pain db key 2012-11 2017-12-29
先天性痛不敏感症 been reported in the scientific literature. perceive physical pain. From birth, affected individuals never feel pain in any channelopathy-associated insensitivity to pain GTR C1855739
(peritheral neuropathy) part of their body when injured. People with this condition can feel the CIP db key
difference between sharp and dull and hot and cold, but cannot sense, for congenital analgesia MeSH D000699
example, that a hot beverage is burning their tongue. This lack of pain congenital indifference to pain db key
awareness often leads to an accumulation of wounds, bruises, broken bones, and congenital pain indifference OMIM 243000
other health issues that may go undetected. Young children with congenital indifference to pain, congenital, autosomal recessive db key
insensitivity to pain may have mouth or finger wounds due to repeated pain insensitivity, congenital Orphanet 88642
self-biting and may also experience multiple burn-related injuries. These db key
repeated injuries often lead to a reduced life expectancy in people with SNOMED CT 403605007
congenital insensitivity to pain. Many people with congenital insensitivity to
pain also have a complete loss of the sense of smell (anosmia).
html:p Congenital insensitivity to pain is considered a form of peripheral neuropathy
because it affects the peripheral nervous system, which connects the brain and
spinal cord to muscles and to cells that detect sensations such as touch, smell,
and pain.
related-gene-list
Congenital insensitivity to pain with anhidrosis https://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain-with-anhidros CIPA is a rare condition; however, the prevalence is unknown. html:p Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic ar autosomal recessive NTRK1 https://ghr.nlm.nih.gov/gene/NTRK1 CIPA db key 2011-05 2017-12-29
先天性痛不敏感症合併無汗症 features: the inability to feel pain and temperature, and decreased or absent hereditary insensitivity to pain with anhidrosis GTR C0020074
sweating (anhidrosis). This condition is also known as hereditary sensory and hereditary sensory and autonomic neuropathy type IV db key
autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, hereditary sensory and autonomic neuropathy, type 4 GeneReviews hsan4
usually at birth or during infancy, but with careful medical attention, affected HSAN type IV db key
individuals can live into adulthood. HSAN4 MeSH D009477
html:p An inability to feel pain and temperature often leads to repeated severe db key
injuries. Unintentional self-injury is common in people with CIPA, typically by OMIM 256800
biting the tongue, lips, or fingers, which may lead to spontaneous amputation of db key
the affected area. In addition, people with CIPA heal slowly from skin and bone Orphanet 642
injuries. Repeated trauma can lead to chronic bone infections (osteomyelitis) db key
or a condition called Charcot joints, in which the bones and tissue surrounding SNOMED CT 62985007
joints are destroyed.
html:p Normally, sweating helps cool the body temperature. However, in people with
CIPA, anhidrosis often causes recurrent, extremely high fevers (hyperpyrexia)
and seizures brought on by high temperature (febrile seizures).
html:p In addition to the characteristic features, there are other signs and symptoms
of CIPA. Many affected individuals have thick, leathery skin (lichenification)
on the palms of their hands or misshapen fingernails or toenails. They can also
have patches on their scalp where hair does not grow (hypotrichosis). About half
of people with CIPA show signs of hyperactivity or emotional instability, and
many affected individuals have intellectual disability. Some people with CIPA
have weak muscle tone (hypotonia) when they are young, but muscle strength and
tone become more normal as they get older.
Congenital Interstitial Cell of Cajal Hyperplasia With Neuronal Intestinal Dysplasia
先天性Cajal氏間質細胞增生合併腸道神經元發育異常
related-gene-list
Congenital leptin deficiency https://ghr.nlm.nih.gov/condition/congenital-leptin-deficiency Congenital leptin deficiency is a rare disorder. Only a few dozen cases html:p Congenital leptin deficiency is a condition that causes severe obesity beginning ar autosomal recessive LEP https://ghr.nlm.nih.gov/gene/LEP LEPD db key 2013-12 2017-12-29
have been reported in the medical literature. in the first few months of life. Affected individuals are of normal weight at leptin deficiency GTR C3554224
birth, but they are constantly hungry and quickly gain weight. Without obesity due to congenital leptin deficiency db key
treatment, the extreme hunger continues and leads to chronic excessive eating obesity, morbid, due to leptin deficiency MeSH D009767
(hyperphagia) and obesity. Beginning in early childhood, affected individuals obesity, morbid, nonsyndromic 1 db key
develop abnormal eating behaviors such as fighting with other children over obesity, severe, due to leptin deficiency OMIM 614962
food, hoarding food, and eating in secret. db key
html:p People with congenital leptin deficiency also have hypogonadotropic Orphanet 66628
hypogonadism, which is a condition caused by reduced production of hormones that db key
direct sexual development. Without treatment, affected individuals experience SNOMED CT 700150001
delayed puberty or do not go through puberty, and may be unable to conceive
children (infertile).
related-gene-list
Congenital mirror movement disorder https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder Congenital mirror movement disorder is a very rare disorder. Its prevalence html:p Congenital mirror movement disorder is a condition in which intentional ad autosomal dominant DCC https://ghr.nlm.nih.gov/gene/DCC bimanual synergia db key 2015-04 2017-12-29
is thought to be less than 1 in 1 million. Researchers suggest that some mildly movements of one side of the body are mirrored by involuntary movements of the code memo related-gene gene-symbol ghr-page bimanual synkinesis GTR CN201638
affected individuals may never be diagnosed. other side. For example, when an affected individual makes a fist with the right ar autosomal recessive RAD51 https://ghr.nlm.nih.gov/gene/RAD51 CMM db key
hand, the left hand makes a similar movement. The mirror movements in this congenital mirror movements GeneReviews mirror
disorder primarily involve the upper limbs, especially the hands and fingers. mirror movements db key
This pattern of movements is present from infancy or early childhood and usually MeSH D009069
persists throughout life, without other associated signs and symptoms. db key
Intelligence and lifespan are not affected. OMIM 157600
html:p People with congenital mirror movement disorder can have some difficulty with db key
certain activities of daily living, particularly with those requiring different OMIM 614508
movements in each hand, such as typing on a keyboard. They may experience db key
discomfort or pain in the upper limbs during prolonged use of the hands. Orphanet 238722
html:p The extent of the mirror movements in this disorder can vary, even within the db key
same family. In most cases, the involuntary movements are noticeable but less SNOMED CT 229247004
pronounced than the corresponding voluntary movements. The extent of the
movements typically stay the same throughout the lifetime of an affected
individual.
html:p Mirror movements can also occur in people who do not have congenital mirror
movement disorder. Mild mirror movements are common during the normal
development of young children and typically disappear before age 7. They can
also develop later in life in people with neurodegenerative disorders such as
Parkinson disease. Mirror movements may also be present in certain other
conditions with a wider range of signs and symptoms (syndromes).
Congenittal muscular dystrophy, CMD
先天性肌肉萎縮症
related-gene-list
Congenital myasthenic syndrome https://ghr.nlm.nih.gov/condition/congenital-myasthenic-syndrome The prevalence of congenital myasthenic syndrome is unknown. At least 600 html:p Congenital myasthenic syndrome is a group of conditions characterized by muscle ad autosomal dominant AGRN https://ghr.nlm.nih.gov/gene/AGRN CMS db key 2011-11 2017-12-29
先天肌無力症 families with affected individuals have been described in the scientific weakness (myasthenia) that worsens with physical exertion. The muscle weakness code memo related-gene gene-symbol ghr-page congenital myasthenia GTR C0393929
(muscle) literature. typically begins in early childhood but can also appear in adolescence or ar autosomal recessive CHAT https://ghr.nlm.nih.gov/gene/CHAT congenital myasthenic syndromes db key
adulthood. Facial muscles, including muscles that control the eyelids, muscles related-gene gene-symbol ghr-page GTR C0751882
that move the eyes, and muscles used for chewing and swallowing, are most CHRNA1 https://ghr.nlm.nih.gov/gene/CHRNA1 db key
commonly affected. However, any of the muscles used for movement (skeletal related-gene gene-symbol ghr-page GTR C0751885
muscles) can be affected in this condition. Due to muscle weakness, affected CHRNB1 https://ghr.nlm.nih.gov/gene/CHRNB1 db key
infants may have feeding difficulties. Development of motor skills such as related-gene gene-symbol ghr-page GTR C1837091
crawling or walking may be delayed. The severity of the myasthenia varies CHRND https://ghr.nlm.nih.gov/gene/CHRND db key
greatly, with some people experiencing minor weakness and others having such related-gene gene-symbol ghr-page GTR C1837122
severe weakness that they are unable to walk. CHRNE https://ghr.nlm.nih.gov/gene/CHRNE db key
html:p Some individuals have episodes of breathing problems that may be triggered by related-gene gene-symbol ghr-page GTR C1850792
fevers or infection. Severely affected individuals may also experience short COLQ https://ghr.nlm.nih.gov/gene/COLQ db key
pauses in breathing (apnea) that can lead to a bluish appearance of the skin or related-gene gene-symbol ghr-page GTR C1864233
lips (cyanosis). DOK7 https://ghr.nlm.nih.gov/gene/DOK7 db key
related-gene gene-symbol ghr-page GTR C3502630
GFPT1 https://ghr.nlm.nih.gov/gene/GFPT1 db key
related-gene gene-symbol ghr-page GTR CN119608
MUSK https://ghr.nlm.nih.gov/gene/MUSK db key
related-gene gene-symbol ghr-page GTR CN228621
PLEC https://ghr.nlm.nih.gov/gene/PLEC db key
related-gene gene-symbol ghr-page GeneReviews cms
RAPSN https://ghr.nlm.nih.gov/gene/RAPSN db key
related-gene gene-symbol ghr-page ICD-10-CM G70.2
SCN4A https://ghr.nlm.nih.gov/gene/SCN4A db key
MeSH D020294
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OMIM 254210
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OMIM 254300
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OMIM 601462
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OMIM 603034
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OMIM 608930
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OMIM 608931
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OMIM 610542
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OMIM 614198
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OMIM 614198
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Orphanet 590
db key
SNOMED CT 230670003
db key
related-gene-list SNOMED CT 230672006
Congenital nephrotic syndrome https://ghr.nlm.nih.gov/condition/congenital-nephrotic-syndrome Congenital nephrotic syndrome affects 1 to 3 per 100,000 children html:p Congenital nephrotic syndrome is a kidney condition that begins in infancy and ar autosomal recessive LAMB2 https://ghr.nlm.nih.gov/gene/LAMB2 familial nephrotic syndrome db key 2016-07 2017-12-29
先天性腎病症群 worldwide. In Finland, where this condition is particularly common, congenital typically leads to irreversible kidney failure (end-stage renal disease) by related-gene gene-symbol ghr-page GTR C0403399
(renal) nephrotic syndrome is estimated to affect 1 in 10,000 children. early childhood. Children with congenital nephrotic syndrome begin to have NPHS1 https://ghr.nlm.nih.gov/gene/NPHS1 db key
symptoms of the condition between birth and 3 months. related-gene gene-symbol ghr-page GTR CN043611
html:p The features of congenital nephrotic syndrome are caused by failure of the NPHS2 https://ghr.nlm.nih.gov/gene/NPHS2 db key
kidneys to filter waste products from the blood and remove them in urine. Signs related-gene gene-symbol ghr-page ICD-10-CM N04
and symptoms of this condition are excessive protein in the urine (proteinuria), PLCE1 https://ghr.nlm.nih.gov/gene/PLCE1 db key
increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup related-gene gene-symbol ghr-page MeSH D009404
of fluid in the abdominal cavity (ascites), and swelling (edema). Affected WT1 https://ghr.nlm.nih.gov/gene/WT1 db key
individuals may also have blood in the urine (hematuria), which can lead to a OMIM 256300
reduced number of red blood cells (anemia) in the body, abnormal blood clotting, db key
or reduced amounts of certain white blood cells. Low white blood cell counts OMIM 600995
can lead to a weakened immune system and frequent infections in people with db key
congenital nephrotic syndrome. Orphanet 839
html:p Children with congenital nephrotic syndrome typically develop end-stage renal db key
disease between ages 2 and 8, although with treatment, some may not have kidney SNOMED CT 48796009
failure until adolescence or early adulthood.
related-gene-list
Congenital plasminogen deficiency https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency The prevalence of congenital plasminogen deficiency has been estimated at html:p Congenital plasminogen deficiency is a disorder that results in inflamed growths ar autosomal recessive PLG https://ghr.nlm.nih.gov/gene/PLG hypoplasminogenemia db key 2012-08 2017-12-29
低纤溶酶原症 1.6 per one million people. This condition is believed to be underdiagnosed, on the mucous membranes, which are the moist tissues that line body openings plasminogen deficiency, type I GTR C1968804
because growths in one area are often not recognized as being a feature of a such as the eyelids and the inside of the mouth. Development of the growths are db key
disorder that affects many body systems. Mild cases likely never come to medical usually triggered by infections or injury, but they may also occur spontaneously ICD-10-CM H10.51
attention. in the absence of known triggers. The growths may recur after being removed. db key
html:p Congenital plasminogen deficiency most often affects the conjunctiva, which are ICD-10-CM H10.511
the mucous membranes that protect the white part of the eye (the sclera) and db key
line the eyelids. A characteristic feature of this disorder is ligneous ICD-10-CM H10.512
conjunctivitis, in which a buildup of a protein called fibrin causes db key
inflammation of the conjunctiva (conjunctivitis) and leads to thick, woody ICD-10-CM H10.513
(ligneous), inflamed growths that are yellow, white, or red. Ligneous db key
conjunctivitis most often occurs on the inside of the eyelids. However, in about ICD-10-CM H10.519
one-third of cases, ligneous conjunctivitis over the sclera grows onto the db key
cornea, which is the clear covering that protects the colored part of the eye MeSH D020147
(the iris) and pupil. Such growths can tear the cornea or cause scarring. These db key
corneal problems as well as obstruction by growths inside the eyelid can lead to OMIM 217090
vision loss. db key
html:p People with congenital plasminogen deficiency may also develop ligneous growths Orphanet 722
on other mucous membranes, including the inside of the mouth and the gums; the db key
lining of the nasal cavity; and in females, the vagina. Growths on the mucous Orphanet 97231
membranes that line the gastrointestinal tract may result in ulcers. The growths db key
may also develop in the windpipe, which can cause life-threatening airway SNOMED CT 403435005
obstruction, especially in children. In a small number of cases, affected db key
individuals are born with impaired drainage of the fluid that surrounds and SNOMED CT 95841006
protects the brain and spinal cord (the cerebrospinal fluid or CSF), resulting
in a buildup of this fluid in the skull (occlusive hydrocephalus). It is unclear
how this feature is related to the other signs and symptoms of congenital
plasminogen deficiency.
related-gene-list
Congenital stromal corneal dystrophy https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy Congenital stromal corneal dystrophy is probably very rare; only a few html:p Congenital stromal corneal dystrophy is an inherited eye disorder. This ad autosomal dominant DCN https://ghr.nlm.nih.gov/gene/DCN congenital hereditary stromal dystrophy of the cornea db key 2009-08 2017-12-29
(visual) affected families have been reported in the medical literature. condition primarily affects the cornea, which is the clear outer covering of the congenital stromal dystrophy of the cornea GTR C1864738
eye. In people with this condition, the cornea appears cloudy and may have an corneal dystrophy, congenital stromal db key
irregular surface. These corneal changes lead to visual impairment, including CSCD GeneReviews csc-dys
blurring, glare, and a loss of sharp vision (reduced visual acuity). Visual DACS db key
impairment is often associated with additional eye abnormalities, including decorin-associated congenital stromal corneal dystrophy MeSH D003317
"lazy eye" (amblyopia), eyes that do not look in the same direction dystrophia corneae parenchymatosa congenita db key
(strabismus), involuntary eye movements (nystagmus), and increased sensitivity OMIM 610048
to light (photophobia). db key
Orphanet 101068
db key
related-gene-list SNOMED CT 702359002
Congenital sucrase-isomaltase deficiency https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency The prevalence of congenital sucrase-isomaltase deficiency is estimated to html:p Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ar autosomal recessive SI https://ghr.nlm.nih.gov/gene/SI congenital sucrose intolerance db key 2008-07 2017-12-29
先天性蔗糖酶 - 異麥芽糖酶缺乏症 be 1 in 5,000 people of European descent. This condition is much more prevalent ability to digest certain sugars. People with this condition cannot break down congenital sucrose-isomaltose malabsorption GTR C1283620
(Sugar metabolism) in the native populations of Greenland, Alaska, and Canada, where as many as 1 the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also CSID db key
in 20 people may be affected. known as table sugar) and maltose (the sugar found in grains) are called disaccharide intolerance I ICD-10-CM E74.31
disaccharides because they are made of two simple sugars. Disaccharides are SI deficiency db key
broken down into simple sugars during digestion. Sucrose is broken down into sucrase-isomaltase deficiency MeSH D002239
glucose and another simple sugar called fructose, and maltose is broken down db key
into two glucose molecules. People with congenital sucrase-isomaltase OMIM 222900
deficiency cannot break down the sugars sucrose and maltose, and other compounds db key
made from these sugar molecules (carbohydrates). Orphanet 35122
html:p Congenital sucrase-isomaltase deficiency usually becomes apparent after an db key
infant is weaned and starts to consume fruits, juices, and grains. After SNOMED CT 78373000
ingestion of sucrose or maltose, an affected child will typically experience
stomach cramps, bloating, excess gas production, and diarrhea. These digestive
problems can lead to failure to gain weight and grow at the expected rate
(failure to thrive) and malnutrition. Most affected children are better able to
tolerate sucrose and maltose as they get older.
Congenital Varicella Syndrome
先天性水痘症候群
related-gene-list
Core binding factor acute myeloid leukemia https://ghr.nlm.nih.gov/condition/core-binding-factor-acute-myeloid-leukemia Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals html:p Core binding factor acute myeloid leukemia (CBF-AML) is one form of a cancer of n not inherited CBFB https://ghr.nlm.nih.gov/gene/CBFB CBF acute myeloid leukemia db key 2013-11 2017-12-29
(Leukemia) each year. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal related-gene gene-symbol ghr-page CBF-AML GTR C0023467
in adults. bone marrow, early blood cells called hematopoietic stem cells develop into FLT3 https://ghr.nlm.nih.gov/gene/FLT3 core-binding factor AML db key
several types of blood cells: white blood cells (leukocytes) that protect the related-gene gene-symbol ghr-page MeSH D015470
body from infection, red blood cells (erythrocytes) that carry oxygen, and blood KIT https://ghr.nlm.nih.gov/gene/KIT db key
cell fragments called platelets (thrombocytes) that are involved in blood related-gene gene-symbol ghr-page OMIM 601626
clotting. In acute myeloid leukemia, the bone marrow makes large numbers of KRAS https://ghr.nlm.nih.gov/gene/KRAS db key
abnormal, immature white blood cells called myeloid blasts. Instead of related-gene gene-symbol ghr-page Orphanet 519
developing into normal white blood cells, the myeloid blasts develop into MYH11 https://ghr.nlm.nih.gov/gene/MYH11 db key
cancerous leukemia cells. The large number of abnormal cells in the bone marrow related-gene gene-symbol ghr-page SNOMED CT 702446006
interferes with the production of functional white blood cells, red blood cells, NRAS https://ghr.nlm.nih.gov/gene/NRAS
and platelets. related-gene gene-symbol ghr-page
html:p People with CBF-AML have a shortage of all types of mature blood cells: a RUNX1 https://ghr.nlm.nih.gov/gene/RUNX1
shortage of white blood cells (leukopenia) leads to increased susceptibility to related-gene gene-symbol ghr-page
infections, a low number of red blood cells (anemia) causes fatigue and RUNX1T1 https://ghr.nlm.nih.gov/gene/RUNX1T1
weakness, and a reduction in the amount of platelets (thrombocytopenia) can related-chromosome name ghr-page
result in easy bruising and abnormal bleeding. Other symptoms of CBF-AML may 8 https://ghr.nlm.nih.gov/chromosome/8
include fever and weight loss. related-chromosome name ghr-page
html:p While acute myeloid leukemia is generally a disease of older adults, CBF-AML 16 https://ghr.nlm.nih.gov/chromosome/16
often begins in young adulthood and can occur in childhood. Compared to other related-chromosome name ghr-page
forms of acute myeloid leukemia, CBF-AML has a relatively good prognosis: about 21 https://ghr.nlm.nih.gov/chromosome/21
90 percent of individuals with CBF-AML recover from their disease following
treatment, compared with 25 to 40 percent of those with other forms of acute
myeloid leukemia. However, the disease recurs in approximately half of them
after successful treatment of the initial occurrence.
related-gene-list
Cornelia de Lange syndrome https://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome Although the exact incidence is unknown, Cornelia de Lange syndrome likely html:p Cornelia de Lange syndrome is a developmental disorder that affects many parts ad autosomal dominant HDAC8 https://ghr.nlm.nih.gov/gene/HDAC8 BDLS db key 2015-09 2017-12-29
De Lange syndrome affects 1 in 10,000 to 30,000 newborns. The condition is probably underdiagnosed of the body. The features of this disorder vary widely among affected code memo related-gene gene-symbol ghr-page Brachmann-de Lange syndrome GTR C0270972
de Lange 症候群 because affected individuals with mild or uncommon features may never be individuals and range from relatively mild to severe. xr X-linked recessive NIPBL https://ghr.nlm.nih.gov/gene/NIPBL CdLS db key
狄蘭氏症候群 recognized as having Cornelia de Lange syndrome. html:p Cornelia de Lange syndrome is characterized by slow growth before and after related-gene gene-symbol ghr-page de Lange syndrome GTR CN239271
(developmental) birth leading to short stature; intellectual disability that is usually moderate RAD21 https://ghr.nlm.nih.gov/gene/RAD21 typus degenerativus amstelodamensis db key
to severe; and abnormalities of bones in the arms, hands, and fingers. Most related-gene gene-symbol ghr-page GeneReviews cdls
people with Cornelia de Lange syndrome also have distinctive facial features, SMC1A https://ghr.nlm.nih.gov/gene/SMC1A db key
including arched eyebrows that often meet in the middle (synophrys), long related-gene gene-symbol ghr-page MeSH D003635
eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned SMC3 https://ghr.nlm.nih.gov/gene/SMC3 db key
nose. Many affected individuals also have behavior problems similar to autism, OMIM 122470
a developmental condition that affects communication and social interaction. db key
html:p Additional signs and symptoms of Cornelia de Lange syndrome can include OMIM 300590
excessive body hair (hypertrichosis), an unusually small head (microcephaly), db key
hearing loss, and problems with the digestive tract. Some people with this OMIM 300882
condition are born with an opening in the roof of the mouth called a cleft db key
palate. Seizures, heart defects, and eye problems have also been reported in OMIM 610759
people with this condition. db key
OMIM 614701
db key
Orphanet 199
db key
related-gene-list SNOMED CT 40354009
Corticosteroid-binding globulin deficiency https://ghr.nlm.nih.gov/condition/corticosteroid-binding-globulin-deficiency The prevalence of corticosteroid-binding globulin deficiency is unknown, html:p Corticosteroid-binding globulin deficiency is a condition with subtle signs and ar autosomal recessive SERPINA6 https://ghr.nlm.nih.gov/gene/SERPINA6 CBG deficiency db key 2014-03 2017-12-29
皮質類固醇結合球蛋白缺乏症 but it is thought to be a rare disorder. However, because some people with the symptoms, the most frequent being extreme tiredness (fatigue), especially after transcortin deficiency GTR C1852529
disorder have mild or no symptoms, it is likely that corticosteroid-binding physical exertion. Many people with this condition have unusually low blood db key
globulin deficiency is underdiagnosed. pressure (hypotension). Some affected individuals have a fatty liver or MeSH D030342
experience chronic pain, particularly in their muscles. These features vary db key
among affected individuals, even those within the same family. OMIM 611489
html:p Many people with corticosteroid-binding globulin deficiency have only one or two db key
of these features; others have no signs and symptoms of the disorder and are SNOMED CT 237768001
only diagnosed after a relative is found to be affected.
html:p Some people with corticosteroid-binding globulin deficiency also have a
condition called chronic fatigue syndrome. The features of chronic fatigue
syndrome are prolonged fatigue that interferes with daily activities, as well as
general symptoms, such as sore throat or headaches.
related-gene-list
Corticosterone methyloxidase deficiency https://ghr.nlm.nih.gov/condition/corticosterone-methyloxidase-deficiency Corticosterone methyloxidase deficiency is a rare disorder; its prevalence html:p Corticosterone methyloxidase deficiency, also known as aldosterone synthase ar autosomal recessive CYP11B2 https://ghr.nlm.nih.gov/gene/CYP11B2 18-hydroxylase deficiency db key 2013-11 2017-12-29
皮质酮甲氧ase酶缺乏症 is unknown. Researchers have described two types of the condition: Type I is deficiency, is a disorder characterized by excessive amounts of sodium released 18-oxidase deficiency GTR C3463917
more common in the Amish population of Lancaster, Pennsylvania, while type II is in the urine (salt wasting), along with insufficient release of potassium in the aldosterone deficiency db key
more common in people of Iranian Jewish ancestry. The two types have similar urine, usually beginning in the first few weeks of life. This imbalance leads aldosterone deficiency due to deficiency of steroid 18-hydroxylase GTR CN074214
signs and symptoms but can be distinguished by laboratory testing. to low levels of sodium and high levels of potassium in the blood (hyponatremia aldosterone deficiency due to deficiency of steroid 18-oxidase db key
and hyperkalemia, respectively). Individuals with corticosterone methyloxidase aldosterone synthase deficiency MeSH D006994
deficiency can also have high levels of acid in the blood (metabolic acidosis). CMO deficiency db key
html:p The hyponatremia, hyperkalemia, and metabolic acidosis associated with congenital hypoaldosteronism OMIM 203400
corticosterone methyloxidase deficiency can cause nausea, vomiting, dehydration, corticosterone 18-monooxygenase deficiency db key
low blood pressure, extreme tiredness (fatigue), and muscle weakness. Affected corticosterone methyl oxidase deficiency OMIM 610600
infants often experience failure to thrive, which means they do not gain weight familial hyperreninemic hypoaldosteronism db key
and grow at the expected rate. Severe cases of corticosterone methyloxidase steroid 18-hydroxylase deficiency Orphanet 427
deficiency can result in seizures and coma and can be life-threatening. However, steroid 18-oxidase deficiency db key
affected individuals who survive infancy generally have a normal life Visser-Cost syndrome SNOMED CT 47757001
expectancy, and the signs and symptoms of the disorder typically become milder
or disappear by adulthood.
related-gene-list
Costeff syndrome https://ghr.nlm.nih.gov/condition/costeff-syndrome Costeff syndrome affects an estimated 1 in 10,000 individuals in the Iraqi html:p Costeff syndrome is a condition characterized by vision loss, movement problems, ar autosomal recessive OPA3 https://ghr.nlm.nih.gov/gene/OPA3 3-methylglutaconic aciduria type 3 db key 2014-07 2017-12-29
Jewish population, in which at least 40 cases have been described. Outside this and intellectual disability. People with Costeff syndrome have degeneration 3-methylglutaconic aciduria type III GTR C0574084
population, only a few affected individuals have been identified. (atrophy) of the optic nerves, which carry information from the eyes to the autosomal recessive OPA3 db key
brain. This optic nerve atrophy often begins in infancy or early childhood and autosomal recessive optic atrophy 3 GeneReviews mga3
results in vision loss that worsens over time. Some affected individuals have Costeff optic atrophy syndrome db key
rapid and involuntary eye movements (nystagmus) or eyes that do not look in the infantile optic atrophy with chorea and spastic paraplegia ICD-10-CM E71.111
same direction (strabismus). Iraqi Jewish optic atrophy plus db key
html:p Movement problems in people with Costeff syndrome develop in late childhood and MGA, type III MeSH D008661
include muscle stiffness (spasticity), impaired muscle coordination (ataxia), MGA3 db key
and involuntary jerking movements (choreiform movements). As a result of these OPA3 defect OMIM 258501
movement difficulties, individuals with Costeff syndrome may require wheelchair optic atrophy plus syndrome db key
assistance. Orphanet 67047
html:p While some people with Costeff syndrome have intellectual disability that ranges db key
from mild to moderate, many people with this condition have normal SNOMED CT 297232009
intelligence.
html:p Costeff syndrome is associated with increased levels of a substance called
3-methylglutaconic acid in the urine. The amount of the acid does not appear to
influence the signs and symptoms of the condition. Costeff syndrome is one of a
group of metabolic disorders that can be diagnosed by the presence of increased
levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People
with Costeff syndrome also have high urine levels of another acid called
3-methylglutaric acid.
related-gene-list
Costello syndrome https://ghr.nlm.nih.gov/condition/costello-syndrome This condition is very rare; it probably affects 200 to 300 people html:p Costello syndrome is a disorder that affects many parts of the body. This ad autosomal dominant HRAS https://ghr.nlm.nih.gov/gene/HRAS faciocutaneoskeletal syndrome db key 2012-07 2017-12-29
克斯提洛氏彈性蛋白缺陷症(小黑人症) worldwide. Reported estimates of Costello syndrome prevalence range from 1 in condition is characterized by delayed development and intellectual disability, FCS syndrome GTR C0587248
300,000 to 1 in 1.25 million people. loose folds of skin (which are especially noticeable on the hands and feet), db key
unusually flexible joints, and distinctive facial features including a large GeneReviews costello
mouth. Heart problems are common, including an abnormal heartbeat (arrhythmia), db key
structural heart defects, and a type of heart disease that enlarges and weakens MeSH D056685
the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome db key
may be larger than average at birth, but most have difficulty feeding and grow OMIM 218040
more slowly than other children. People with this condition have relatively db key
short stature and may have reduced growth hormone levels. Other signs and Orphanet 3071
symptoms of Costello syndrome can include tight Achilles tendons (which connect db key
the calf muscles to the heel), weak muscle tone (hypotonia), a structural SNOMED CT 309776008
abnormality of the brain called a Chiari I malformation, skeletal abnormalities,
dental problems, and problems with vision.
html:p Beginning in early childhood, people with Costello syndrome are at an increased
risk of developing certain cancerous and noncancerous tumors. The most common
noncancerous tumors associated with this condition are papillomas, which are
small, wart-like growths that usually develop around the nose and mouth or near
the anus. The most common cancerous tumor associated with Costello syndrome is a
childhood cancer called rhabdomyosarcoma, which begins in muscle tissue.
Neuroblastoma, a tumor that arises in developing nerve cells, also has been
reported in children and adolescents with this syndrome. In addition, some
teenagers with Costello syndrome have developed transitional cell carcinoma, a
form of bladder cancer that is usually seen in older adults.
html:p The signs and symptoms of Costello syndrome overlap significantly with those of
two other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and
Noonan syndrome. In affected infants, it can be difficult to tell the three
conditions apart based on their physical features. However, the conditions can
be distinguished by their genetic cause and by specific patterns of signs and
symptoms that develop later in childhood.
inheritance-pattern-list related-gene-list
Cowden syndrome https://ghr.nlm.nih.gov/condition/cowden-syndrome Although the exact prevalence of Cowden syndrome is unknown, researchers html:p Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like ad autosomal dominant ghr-page CD db-key db key 2012-10 2017-12-29
Cowden综合症 estimate that it affects about 1 in 200,000 people. growths called hamartomas and an increased risk of developing certain cancers. related-gene https://ghr.nlm.nih.gov/gene/KLLN Cowden disease GTR C0018553
html:p Almost everyone with Cowden syndrome develops hamartomas. These growths are most ghr-page Cowden's disease db-key db key
commonly found on the skin and mucous membranes (such as the lining of the related-gene https://ghr.nlm.nih.gov/gene/PTEN Cowden's syndrome GTR C3552552
mouth and nose), but they can also occur in the intestine and other parts of the ghr-page CS db-key db key
body. The growth of hamartomas on the skin and mucous membranes typically related-gene https://ghr.nlm.nih.gov/gene/SDHB MHAM GTR CN072330
becomes apparent by a person's late twenties. ghr-page multiple hamartoma syndrome db-key db key
html:p Cowden syndrome is associated with an increased risk of developing several types https://ghr.nlm.nih.gov/gene/SDHD GeneReviews phts
of cancer, particularly cancers of the breast, a gland in the lower neck called db-key db key
the thyroid, and the lining of the uterus (the endometrium). Other cancers that ICD-10-CM Q85.8
have been identified in people with Cowden syndrome include colorectal cancer, db-key db key
kidney cancer, and a form of skin cancer called melanoma. Compared with the MeSH D006223
general population, people with Cowden syndrome develop these cancers at younger db-key db key
ages, often beginning in their thirties or forties. Other diseases of the OMIM 158350
breast, thyroid, and endometrium are also common in Cowden syndrome. Additional db-key db key
signs and symptoms can include an enlarged head (macrocephaly) and a rare, OMIM 612359
noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of db-key db key
affected individuals have delayed development or intellectual disability. Orphanet 201
html:p The features of Cowden syndrome overlap with those of another disorder called db-key db key
Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome Orphanet 65285
also develop hamartomas and other noncancerous tumors. Both conditions can be db-key db key
html:i SNOMED CT 58037000
PTEN
hamartoma tumor syndrome instead of two distinct conditions.
html:p Some people have some of the characteristic features of Cowden syndrome,
particularly the cancers associated with this condition, but do not meet the
strict criteria for a diagnosis of Cowden syndrome. These individuals are often
described as having Cowden-like syndrome.
related-gene-list
Cranioectodermal dysplasia https://ghr.nlm.nih.gov/condition/cranioectodermal-dysplasia Cranioectodermal dysplasia is a rare condition with an unknown prevalence. html:p Cranioectodermal dysplasia is a disorder that affects many parts of the body. ar autosomal recessive IFT43 https://ghr.nlm.nih.gov/gene/IFT43 CED db key 2013-11 2017-12-29
顱骨發育不良 Approximately 40 cases of this condition have been described in the medical The most common features involve bone abnormalities and abnormal development of related-gene gene-symbol ghr-page Sensenbrenner syndrome GTR C0432235
literature. certain tissues known as ectodermal tissues, which include the skin, hair, IFT122 https://ghr.nlm.nih.gov/gene/IFT122 db key
nails, and teeth. The signs and symptoms of this condition vary among affected related-gene gene-symbol ghr-page GTR C3150874
individuals, even among members of the same family. WDR19 https://ghr.nlm.nih.gov/gene/WDR19 db key
html:p Distinctive abnormalities of the skull and face are common in people with related-gene gene-symbol ghr-page GTR C3279807
cranioectodermal dysplasia. Most affected individuals have a prominent forehead WDR35 https://ghr.nlm.nih.gov/gene/WDR35 db key
(frontal bossing) and an elongated head (dolichocephaly) due to abnormal fusion GTR C3280616
of certain skull bones (sagittal craniosynostosis). A variety of facial db key
abnormalities can occur in people with this condition; these include low-set GeneReviews ce-dysp
ears that may also be rotated backward, an increased distance between the inner db key
corners of the eyes (telecanthus), and outside corners of the eyes that point MeSH D000015
upward or downward (upslanting or downslanting palpebral fissures) among others. db key
html:p Development of bones in the rest of the skeleton is also affected in this MeSH D004476
condition. Abnormalities in the long bones of the arms and legs (metaphyseal db key
dysplasia) lead to short limbs and short stature. In addition, affected OMIM 218330
individuals often have short fingers (brachydactyly). Some people with this db key
condition have short rib bones and a narrow rib cage, which can cause breathing OMIM 613610
problems, especially in affected newborns. db key
html:p Abnormal development of ectodermal tissues in people with cranioectodermal OMIM 614099
dysplasia can lead to sparse hair, small or missing teeth, short fingernails and db key
toenails, and loose skin. OMIM 614378
html:p Cranioectodermal dysplasia can affect additional organs and tissues in the body. db key
A kidney disorder known as nephronophthisis occurs in many people with this Orphanet 1515
condition, and it can lead to a life-threatening failure of kidney function db key
known as end-stage renal disease. Abnormalities of the liver, heart, or eyes SNOMED CT 254093009
also occur in people with cranioectodermal dysplasia.
related-gene-list
Craniofacial-deafness-hand syndrome https://ghr.nlm.nih.gov/condition/craniofacial-deafness-hand-syndrome Craniofacial-deafness-hand syndrome is an extremely rare condition. Only a html:p Craniofacial-deafness-hand syndrome is characterized by distinctive facial ad autosomal dominant PAX3 https://ghr.nlm.nih.gov/gene/PAX3 CDHS db key 2012-08 2017-12-29
few cases have been reported in the scientific literature. features, profound hearing loss, and hand abnormalities. GTR C1852510
html:p The distinctive facial features of people with craniofacial-deafness-hand db key
syndrome result from a variety of developmental abnormalities involving the MeSH D006319
skull (cranium) and face. Affected individuals often have underdeveloped or db key
absent nasal bones resulting in a small nose, thin nostrils, and a flattened MeSH D019465
mid-face with a flat nasal bridge. Individuals with this condition typically db key
also have widely spaced eyes (ocular hypertelorism), narrowed openings of the OMIM 122880
eyes (narrowed palpebral fissures), a small upper jaw (hypoplastic maxilla), db key
and a small mouth with pursed lips. Orphanet 1529
html:p People with this condition also have profound hearing loss that is caused by db key
abnormalities in the inner ear (sensorineural deafness). Hearing loss in these SNOMED CT 702362004
individuals is present from birth.
html:p In affected individuals, a common abnormality of the muscles in the hand is a
malformation in which all of the fingers are angled outward toward the fifth
finger (ulnar deviation). People with craniofacial-deafness-hand syndrome may
also have permanently bent third, fourth, and fifth fingers (camptodactyly),
which can limit finger movement and lead to joint deformities called
contractures. Contractures in the wrist can further impair hand movements.
synonym-list db-key-list
Craniofacial microsomia https://ghr.nlm.nih.gov/condition/craniofacial-microsomia Craniofacial microsomia has been estimated to occur in between 1 in 5,600 html:p Craniofacial microsomia is a term used to describe a spectrum of abnormalities ad autosomal dominant synonym auriculobranchiogenic dysplasia key 2017-12-29
颅面短小 and 1 in 26,550 newborns. However, this range may be an underestimate because that primarily affect the development of the skull (cranium) and face before code memo synonym CFM db-key C0265240
not all medical professionals agree on the criteria for diagnosis of this birth. Microsomia means abnormal smallness of body structures. Most people with ar autosomal recessive synonym facioauriculovertebral dysplasia key
condition, and because mild cases may never come to medical attention. For craniofacial microsomia have differences in the size and shape of facial synonym FAV db-key m-hfm-ov
reasons that are unclear, the disorder occurs about 50 percent more often in structures between the right and left sides of the face (facial asymmetry). In synonym first and second branchial arch syndrome key
males than in females. about two-thirds of cases, both sides of the face have abnormalities, which synonym first and second pharyngeal arch syndromes db-key D006053
usually differ from one side to the other. Other individuals with craniofacial synonym Goldenhar-Gorlin syndrome key
microsomia are affected on only one side of the face. The facial characteristics synonym Goldenhar syndrome db-key D019465
in craniofacial microsomia typically include underdevelopment of one side of synonym hemifacial microsomia key
the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause synonym HFM db-key 164210
dental problems and difficulties with feeding and speech. In cases of severe synonym lateral facial dysplasia key
mandibular hypoplasia, breathing may also be affected. synonym OAV complex db-key 374
html:p People with craniofacial microsomia usually have ear abnormalities affecting one synonym OAVS key
or both ears, typically to different degrees. They may have growths of skin synonym oculoauriculovertebral spectrum db-key 109393007
(skin tags) in front of the ear (preauricular tags), an underdeveloped or absent synonym oral-mandibular-auricular syndrome key
external ear (microtia or anotia), or a closed or absent ear canal; these synonym otomandibular dysostosis db-key 205418005
abnormalities may lead to hearing loss. Eye problems are less common in synonym unilateral intrauterine facial necrosis key
craniofacial microsomia, but some affected individuals have an unusually small synonym unilateral mandibulofacial dysostosis db-key 254025006
eyeball (microphthalmia) or other eye abnormalities that result in vision loss. key
html:p Abnormalities in other parts of the body, such as malformed bones of the spine db-key 254026007
(vertebrae), abnormally shaped kidneys, and heart defects, may also occur in key
people with craniofacial microsomia. db-key 367462009
html:p Many other terms have been used for craniofacial microsomia. These other names key
generally refer to forms of craniofacial microsomia with specific combinations 703973009
of signs and symptoms, although sometimes they are used interchangeably.
Hemifacial microsomia often refers to craniofacial microsomia with maxillary or
mandibular hypoplasia. People with hemifacial microsomia and noncancerous
(benign) growths in the eye called epibulbar dermoids may be said to have
Goldenhar syndrome or oculoauricular dysplasia.
related-gene-list
Craniometaphyseal dysplasia https://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia Craniometaphyseal dysplasia is a very rare disorder; its incidence is html:p Craniometaphyseal dysplasia is a rare condition characterized by progressive ad autosomal dominant ANKH https://ghr.nlm.nih.gov/gene/ANKH Autosomal dominant craniometaphyseal dysplasia db key 2009-02 2017-12-29
顱骨幹骺端發育不良 unknown. thickening of bones in the skull (cranium) and abnormalities at the ends of long code memo Autosomal recessive craniometaphyseal dysplasia GTR C1852502
bones in the limbs (metaphyseal dysplasia). Except in the most severe cases, ar autosomal recessive CMD db key
the lifespan of people with craniometaphyseal dysplasia is normal. CMDD GTR C1857496
html:p Bone overgrowth in the head causes many of the signs and symptoms of CMDJ db key
craniometaphyseal dysplasia. Affected individuals typically have distinctive CMDR GeneReviews cranio-md
facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes Craniometaphyseal dysplasia, Jackson type db key
(hypertelorism), and a prominent jaw. Excessive new bone formation MeSH D009139
(hyperostosis) in the jaw can delay teething (dentition) or result in absent db key
(non-erupting) teeth. Infants with this condition may have breathing or feeding OMIM 123000
problems caused by narrow nasal passages. In severe cases, abnormal bone growth db key
can compress the nerves that emerge from the brain and extend to various areas Orphanet 1522
of the head and neck (cranial nerves). Compression of the cranial nerves can db key
lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. SNOMED CT 254134004
html:p The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped db key
long bones, particularly the large bones in the legs. The ends of these bones SNOMED CT 254135003
(metaphyses) are wider and appear less dense in people with this condition. db key
html:p There are two types of craniometaphyseal dysplasia, which are distinguished by SNOMED CT 36601008
their pattern of inheritance. They are known as the autosomal dominant and
autosomal recessive types. Autosomal recessive craniometaphyseal dysplasia is
typically more severe than the autosomal dominant form.
related-gene-list
Cri-du-chat syndrome https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. html:p Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a n not inherited CTNND2 https://ghr.nlm.nih.gov/gene/CTNND2 5p deletion syndrome db key 2014-02 2017-12-29
貓哭症 This condition is found in people of all ethnic backgrounds. chromosomal condition that results when a piece of chromosome 5 is missing. related-chromosome name ghr-page 5p- syndrome GTR C0010314
5p deletion syndrome Infants with this condition often have a high-pitched cry that sounds like that 5 https://ghr.nlm.nih.gov/chromosome/5 cat cry syndrome db key
of a cat. The disorder is characterized by intellectual disability and delayed chromosome 5p- syndrome ICD-10-CM Q93.4
development, small head size (microcephaly), low birth weight, and weak muscle monosomy 5p db key
tone (hypotonia) in infancy. Affected individuals also have distinctive facial MeSH D003410
features, including widely set eyes (hypertelorism), low-set ears, a small jaw, db key
and a rounded face. Some children with cri-du-chat syndrome are born with a OMIM 123450
heart defect. db key
Orphanet 281
db key
related-gene-list SNOMED CT 70173007
Crigler-Najjar syndrome https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome Crigler-Najjar syndrome is estimated to affect fewer than 1 in 1 million html:p Crigler-Najjar syndrome is a severe condition characterized by high levels of a ar autosomal recessive UGT1A1 https://ghr.nlm.nih.gov/gene/UGT1A1 Crigler Najjar syndrome db key 2012-02 2017-12-29
克果納傑氏症 newborns worldwide. toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is familial nonhemolytic unconjugated hyperbilirubinemia GTR C0010324
produced when red blood cells are broken down. This substance is removed from hereditary unconjugated hyperbilirubinemia db key
the body only after it undergoes a chemical reaction in the liver, which GTR C2931132
converts the toxic form of bilirubin (called unconjugated bilirubin) to a db key
nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome GTR CN119421
have a buildup of unconjugated bilirubin in their blood (unconjugated db key
hyperbilirubinemia). ICD-10-CM E80.5
html:p Bilirubin has an orange-yellow tint, and hyperbilirubinemia causes yellowing of db key
the skin and whites of the eyes (jaundice). In Crigler-Najjar syndrome, jaundice MeSH D003414
is apparent at birth or in infancy. Severe unconjugated hyperbilirubinemia can db key
lead to a condition called kernicterus, which is a form of brain damage caused OMIM 218800
by the accumulation of unconjugated bilirubin in the brain and nerve tissues. db key
Babies with kernicterus are often extremely tired (lethargic) and may have weak OMIM 606785
muscle tone (hypotonia). These babies may experience episodes of increased db key
muscle tone (hypertonia) and arching of their backs. Kernicterus can lead to Orphanet 205
other neurological problems, including involuntary writhing movements of the db key
body (choreoathetosis), hearing problems, or intellectual disability. Orphanet 79234
html:p Crigler-Najjar syndrome is divided into two types. Type 1 (CN1) is very severe, db key
and affected individuals can die in childhood due to kernicterus, although with Orphanet 79235
proper treatment, they may survive longer. Type 2 (CN2) is less severe. People db key
with CN2 are less likely to develop kernicterus, and most affected individuals SNOMED CT 28259009
survive into adulthood. db key
SNOMED CT 68067009
db key
related-gene-list SNOMED CT 8933000
Critical congenital heart disease https://ghr.nlm.nih.gov/condition/critical-congenital-heart-disease Heart defects are the most common type of birth defect, accounting for more html:p Critical congenital heart disease (CCHD) is a term that refers to a group of u pattern unknown CFC1 https://ghr.nlm.nih.gov/gene/CFC1 CCHD db key 2017-11 2017-12-29
重症先天性心脏 than 30 percent of all infant deaths due to birth defects. CCHD represents some serious heart defects that are present from birth. These abnormalities result related-gene gene-symbol ghr-page critical congenital heart defects GTR C0013481
(heart) of the most serious types of heart defects. About 7,200 newborns, or 18 per from problems with the formation of one or more parts of the heart during the FOXH1 https://ghr.nlm.nih.gov/gene/FOXH1 db key
10,000, in the United States are diagnosed with CCHD each year. early stages of embryonic development. CCHD prevents the heart from pumping related-gene gene-symbol ghr-page GTR C0039685
blood effectively or reduces the amount of oxygen in the blood. As a result, GATA4 https://ghr.nlm.nih.gov/gene/GATA4 db key
organs and tissues throughout the body do not receive enough oxygen, which can related-gene gene-symbol ghr-page GTR C0040761
lead to organ damage and life-threatening complications. Individuals with CCHD GATA6 https://ghr.nlm.nih.gov/gene/GATA6 db key
usually require surgery soon after birth. related-gene gene-symbol ghr-page GTR C0041207
html:p Although babies with CCHD may appear healthy for the first few hours or days of GDF1 https://ghr.nlm.nih.gov/gene/GDF1 db key
life, signs and symptoms soon become apparent. These can include an abnormal related-gene gene-symbol ghr-page GTR C0152021
heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low GJA1 https://ghr.nlm.nih.gov/gene/GJA1 db key
blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and related-gene gene-symbol ghr-page GTR C0152101
a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If HAND1 https://ghr.nlm.nih.gov/gene/HAND1 db key
untreated, CCHD can lead to shock, coma, and death. However, most people with related-gene gene-symbol ghr-page GTR C0243002
CCHD now survive past infancy due to improvements in early detection, diagnosis, MED13L https://ghr.nlm.nih.gov/gene/MED13L db key
and treatment. related-gene gene-symbol ghr-page GTR C0344975
html:p Some people with treated CCHD have few related health problems later in life. NKX2-5 https://ghr.nlm.nih.gov/gene/NKX2-5 db key
However, long-term effects of CCHD can include delayed development and reduced related-gene gene-symbol ghr-page GTR C0344976
stamina during exercise. Adults with these heart defects have an increased risk NKX2-6 https://ghr.nlm.nih.gov/gene/NKX2-6 db key
of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and related-gene gene-symbol ghr-page GTR C3151220
premature death. NOTCH1 https://ghr.nlm.nih.gov/gene/NOTCH1 db key
html:p Each of the heart defects associated with CCHD affects the flow of blood into, related-gene gene-symbol ghr-page GTR C3151221
out of, or through the heart. Some of the heart defects involve structures SMAD6 https://ghr.nlm.nih.gov/gene/SMAD6 db key
within the heart itself, such as the two lower chambers of the heart (the related-gene gene-symbol ghr-page GTR C3280795
ventricles) or the valves that control blood flow through the heart. Others ZFPM2 https://ghr.nlm.nih.gov/gene/ZFPM2 db key
affect the structure of the large blood vessels leading into and out of the ICD-10-CM Q20.1
heart (including the aorta and pulmonary artery). Still others involve a db key
combination of these structural abnormalities. ICD-10-CM Q21.3
html:p People with CCHD have one or more specific heart defects. The heart defects db key
classified as CCHD include coarctation of the aorta, double-outlet right ICD-10-CM Q22.0
ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic db key
left heart syndrome, interrupted aortic arch, pulmonary atresia with intact ICD-10-CM Q22.4
septum, single ventricle, total anomalous pulmonary venous connection, tetralogy db key
of Fallot, tricuspid atresia, and truncus arteriosus. ICD-10-CM Q22.5
db key
ICD-10-CM Q23.4
db key
ICD-10-CM Q25.1
db key
MeSH D006330
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OMIM 106700
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OMIM 120000
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OMIM 178370
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OMIM 187500
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OMIM 217095
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OMIM 224700
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OMIM 241550
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OMIM 265150
db key
OMIM 605067
db key
OMIM 605376
db key
OMIM 608808
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OMIM 613854
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OMIM 614435
db key
Orphanet 1207
db key
Orphanet 1208
db key
Orphanet 1209
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Orphanet 2248
db key
Orphanet 3303
db key
Orphanet 3384
db key
SNOMED CT 17394001
db key
SNOMED CT 204296002
db key
SNOMED CT 204354004
db key
SNOMED CT 204357006
db key
SNOMED CT 218728005
db key
SNOMED CT 253443005
db key
SNOMED CT 253590009
db key
SNOMED CT 253591008
db key
SNOMED CT 26146002
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SNOMED CT 39905002
db key
SNOMED CT 399228007
db key
SNOMED CT 443379009
db key
SNOMED CT 447832002
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SNOMED CT 447914003
db key
SNOMED CT 448599000
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SNOMED CT 448794008
db key
SNOMED CT 45503006
db key
SNOMED CT 61959006
db key
SNOMED CT 62067003
db key
SNOMED CT 63042009
db key
SNOMED CT 719955006
db key
SNOMED CT 7305005
db key
SNOMED CT 7484005
db key
related-gene-list SNOMED CT 86299006
Crohn disease https://ghr.nlm.nih.gov/condition/crohn-disease Crohn disease is most common in western Europe and North America, where it html:p Crohn disease is a complex, long-lasting (chronic) disorder that primarily u pattern unknown ATG16L1 https://ghr.nlm.nih.gov/gene/ATG16L1 colitis, granulomatous db key 2017-12 2017-12-29
克罗恩病 has a prevalence of 100 to 300 per 100,000 people. More than half a million affects the digestive system. This condition involves an abnormal immune related-gene gene-symbol ghr-page Crohn's disease GTR C0678202
克隆氏症 Americans are currently affected by this disorder. Crohn disease occurs more response that causes excess inflammation. It most often affects the intestinal HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 Crohn's enteritis db key
(Digestive) often in people of northern European ancestry and those of eastern and central walls, particularly in the lower part of the small intestine (the ileum) and related-gene gene-symbol ghr-page enteritis, granulomatous GTR CN043071
European (Ashkenazi) Jewish descent than among people of other ethnic portions of the large intestine (the colon). However, inflammation can occur in IL10 https://ghr.nlm.nih.gov/gene/IL10 enteritis, regional db key
backgrounds. For reasons that are not clear, the prevalence of Crohn disease has any part of the digestive system, from the mouth to the anus. The inflamed related-gene gene-symbol ghr-page ICD-10-CM K50
been increasing in the United States and some other parts of the world. tissues become thick and swollen, and the inner surfaces of the digestive system IL12B https://ghr.nlm.nih.gov/gene/IL12B db key
may develop open sores (ulcers). related-gene gene-symbol ghr-page ICD-10-CM K50.0
html:p Crohn disease most commonly appears in a person's late teens or twenties, IL23R https://ghr.nlm.nih.gov/gene/IL23R db key
although the disease can begin at any age. Signs and symptoms tend to flare up related-gene gene-symbol ghr-page ICD-10-CM K50.00
multiple times throughout life. The most common features of this condition are IRGM https://ghr.nlm.nih.gov/gene/IRGM db key
persistent diarrhea, abdominal pain and cramping, loss of appetite, weight loss, related-gene gene-symbol ghr-page ICD-10-CM K50.01
and fever. Some people with Crohn disease have blood in the stool from inflamed JAK2 https://ghr.nlm.nih.gov/gene/JAK2 db key
tissues in the intestine; over time, chronic bleeding can lead to a low number related-gene gene-symbol ghr-page ICD-10-CM K50.1
of red blood cells (anemia). In some cases, Crohn disease can also cause LRRK2 https://ghr.nlm.nih.gov/gene/LRRK2 db key
inflammation affecting the joints, eyes, or skin. related-gene gene-symbol ghr-page ICD-10-CM K50.8
html:p Intestinal blockage is a common complication of Crohn disease. Blockages are MUC2 https://ghr.nlm.nih.gov/gene/MUC2 db key
caused by swelling or a buildup of scar tissue in the intestinal walls. Some related-gene gene-symbol ghr-page ICD-10-CM K50.9
affected individuals also develop fistulae, which are abnormal connections NOD2 https://ghr.nlm.nih.gov/gene/NOD2 db key
between the intestine and other tissues. Fistulae occur when ulcers break related-gene gene-symbol ghr-page ICD-10-CM K50.10
through the intestinal wall and passages form between loops of the intestine or SLC22A4 https://ghr.nlm.nih.gov/gene/SLC22A4 db key
between the intestine and nearby structures (such as the bladder, vagina, or related-gene gene-symbol ghr-page ICD-10-CM K50.011
skin). SLC22A5 https://ghr.nlm.nih.gov/gene/SLC22A5 db key
html:p Crohn disease is one common form of inflammatory bowel disease (IBD). Another related-gene gene-symbol ghr-page ICD-10-CM K50.11
type of IBD, ulcerative colitis, also causes chronic inflammation of the STAT3 https://ghr.nlm.nih.gov/gene/STAT3 db key
intestinal lining. Unlike Crohn disease, which can affect any part of the related-gene gene-symbol ghr-page ICD-10-CM K50.012
digestive system, ulcerative colitis typically causes inflammation only in the TYK2 https://ghr.nlm.nih.gov/gene/TYK2 db key
colon. ICD-10-CM K50.013
db key
ICD-10-CM K50.014
db key
ICD-10-CM K50.018
db key
ICD-10-CM K50.019
db key
ICD-10-CM K50.80
db key
ICD-10-CM K50.81
db key
ICD-10-CM K50.90
db key
ICD-10-CM K50.91
db key
ICD-10-CM K50.111
db key
ICD-10-CM K50.112
db key
ICD-10-CM K50.113
db key
ICD-10-CM K50.114
db key
ICD-10-CM K50.118
db key
ICD-10-CM K50.119
db key
ICD-10-CM K50.811
db key
ICD-10-CM K50.812
db key
ICD-10-CM K50.813
db key
ICD-10-CM K50.814
db key
ICD-10-CM K50.818
db key
ICD-10-CM K50.819
db key
ICD-10-CM K50.911
db key
ICD-10-CM K50.912
db key
ICD-10-CM K50.913
db key
ICD-10-CM K50.914
db key
ICD-10-CM K50.918
db key
ICD-10-CM K50.919
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MeSH D003424
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OMIM 191390
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OMIM 266600
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OMIM 601458
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OMIM 604519
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OMIM 605225
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OMIM 606348
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OMIM 606668
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OMIM 606674
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OMIM 606675
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OMIM 608448
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OMIM 611081
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OMIM 612241
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OMIM 612244
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OMIM 612245
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OMIM 612255
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OMIM 612259
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OMIM 612261
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OMIM 612262
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OMIM 612278
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OMIM 612288
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OMIM 612354
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OMIM 612380
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OMIM 612381
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OMIM 612566
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OMIM 612567
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OMIM 612796
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OMIM 613148
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Orphanet 206
db key
SNOMED CT 34000006
db key
SNOMED CT 38106008
db key
SNOMED CT 50440006
db key
related-gene-list SNOMED CT 52457000
Crouzon syndrome https://ghr.nlm.nih.gov/condition/crouzon-syndrome Crouzon syndrome is seen in about 16 per million newborns. It is the most html:p Crouzon syndrome is a genetic disorder characterized by the premature fusion of ad autosomal dominant FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 Craniofacial dysarthrosis db key 2008-02 2017-12-29
克魯松氏症候群 common craniosynostosis syndrome. certain skull bones (craniosynostosis). This early fusion prevents the skull Craniofacial Dysostosis GTR C0010273
from growing normally and affects the shape of the head and face. Craniofacial dysostosis syndrome db key
html:p Many features of Crouzon syndrome result from the premature fusion of the skull Craniofacial dysostosis, type 1; CFD1 GeneReviews craniosynostosis
bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision Crouzon craniofacial dysostosis db key
problems caused by shallow eye sockets; eyes that do not point in the same Crouzon's Disease ICD-10-CM Q75.1
direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In Crouzons Disease db key
addition, people with Crouzon syndrome may have dental problems and hearing MeSH D003394
loss, which is sometimes accompanied by narrow ear canals. A few people with db key
Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip OMIM 123500
and palate). The severity of these signs and symptoms varies among affected db key
people. People with Crouzon syndrome are usually of normal intelligence. Orphanet 207
db key
related-gene-list SNOMED CT 28861008
Crouzon syndrome with acanthosis nigricans https://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans Crouzon syndrome with acanthosis nigricans is rare; this condition occurs html:p Crouzon syndrome with acanthosis nigricans is a disorder characterized by the ad autosomal dominant FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 CAN db key 2017-03 2017-12-29
in about 1 person per million. For unknown reasons, it affects females more than premature joining of certain bones of the skull (craniosynostosis) during Crouzonodermoskeletal syndrome GTR C2677099
twice as often as males. development and a skin condition called acanthosis nigricans. db key
html:p The signs and symptoms of Crouzon syndrome with acanthosis nigricans overlap GeneReviews craniosynostosis
with those of a similar condition called Crouzon syndrome. Both conditions db key
involve premature fusion of the skull bones, which affects the shape of the head ICD-10-CM Q75.1
and face. Other common features of both conditions include wide-set, bulging db key
eyes due to shallow eye sockets; eyes that do not point in the same direction MeSH D000052
(strabismus); a small, beaked nose; and a flat or sunken appearance of the db key
middle of the face (midface hypoplasia). Less common features that can occur in MeSH D003394
either disorder include an opening in the roof of the mouth (cleft palate), db key
dental problems, or hearing loss. People with Crouzon syndrome or Crouzon MeSH D003398
syndrome with acanthosis nigricans usually have normal intelligence. db key
html:p Crouzon syndrome with acanthosis nigricans is distinguished from Crouzon OMIM 612247
syndrome by several features, including skin abnormalities. Acanthosis nigricans db key
is a skin condition characterized by thick, dark, velvety skin in body folds Orphanet 93262
and creases, including the neck and underarms. People with Crouzon syndrome with db key
acanthosis nigricans may also have other skin abnormalities; for example, scars SNOMED CT 702361006
in the thick, dark areas of skin are flat and pale. These scars are usually
from surgical procedures that are commonly needed in affected individuals.
Additionally, in some people with the condition, one or both nasal passages are
narrowed (choanal stenosis) or completely blocked (choanal atresia), which can
cause difficulty breathing. A buildup of fluid in the brain (hydrocephalus) can
also occur. Nasal passage abnormalities and hydrocephalus are rare in Crouzon
syndrome. Less common features of Crouzon syndrome with acanthosis nigricans
include subtle changes in the bones of the spine (vertebrae), abnormalities of
the finger bones, and noncancerous growths in the jaw called cementomas.
related-gene-list
Cryptogenic cirrhosis https://ghr.nlm.nih.gov/condition/cryptogenic-cirrhosis Cirrhosis affects more than 600,000 people in the United States; html:p Cryptogenic cirrhosis is a condition that impairs liver function. People with ad autosomal dominant KRT8 https://ghr.nlm.nih.gov/gene/KRT8 cirrhosis, cryptogenic db key 2016-03 2017-12-29
隐源性肝硬化 cryptogenic cirrhosis likely accounts for 5 to 30 percent of these cases. this condition develop irreversible liver disease caused by scarring of the code memo related-gene gene-symbol ghr-page GTR C0267809
隱源性肝硬化 liver (cirrhosis), typically in mid- to late adulthood. n not inherited KRT18 https://ghr.nlm.nih.gov/gene/KRT18 db key
(Liver) html:p The liver is a part of the digestive system that helps break down food, store code memo GTR C1861556
energy, and remove waste products, including toxins. Minor damage to the liver u pattern unknown db key
can be repaired by the body. However, severe or long-term damage can lead to the ICD-10-CM K74.69
replacement of normal liver tissue with scar tissue. db key
html:p In the early stages of cryptogenic cirrhosis, people often have no symptoms MeSH D008103
because the liver has enough normal tissue to function. Signs and symptoms db key
become apparent as more of the liver is replaced by scar tissue. Affected OMIM 215600
individuals can experience fatigue, weakness, loss of appetite, weight loss, db key
nausea, swelling (edema), enlarged blood vessels, and yellowing of the skin and SNOMED CT 89580002
whites of the eyes (jaundice).
html:p People with cryptogenic cirrhosis may develop high blood pressure in the vein
that supplies blood to the liver (portal hypertension). Cryptogenic cirrhosis
can lead to type 2 diabetes, although the mechanism is unclear. Some people with
cryptogenic cirrhosis develop cancer of the liver (hepatocellular cancer).
synonym-list db-key-list
Cushing disease https://ghr.nlm.nih.gov/condition/cushing-disease Cushing disease is estimated to occur in 10 to 15 per million people html:p Cushing disease is caused by elevated levels of a hormone called cortisol, which u pattern unknown synonym pituitary ACTH hypersecretion key 2017-12-29
庫興氏症候群 worldwide. For reasons that are unclear, Cushing disease affects females more leads to a wide variety of signs and symptoms. This condition usually occurs in synonym pituitary Cushing syndrome db-key C0221406
often than males. adults between the ages of 20 and 50; however, children may also be affected. synonym pituitary-dependant Cushing syndrome key
The first sign of this condition is usually weight gain around the trunk and in synonym pituitary-dependant hypercortisolism db-key E24.0
the face. Affected individuals may get stretch marks (striae) on their thighs synonym pituitary-dependant hypercortisolism disorder key
and abdomen and bruise easily. Individuals with Cushing disease can develop a db-key D047748
hump on their upper back caused by abnormal deposits of fat. People with this key
condition can have muscle weakness, severe tiredness, and progressively thin and db-key 219090
brittle bones that are prone to fracture (osteoporosis). They also have a key
weakened immune system and are at an increased risk of infections. Cushing db-key 96253
disease can cause mood disorders such as anxiety, irritability, and depression. key
This condition can also affect a person's concentration and memory. People with db-key 190502001
Cushing disease have an increased chance of developing high blood pressure key
(hypertension) and diabetes. Women with Cushing disease may experience irregular db-key 237734007
menstruation and have excessive hair growth (hirsutism) on their face, abdomen, key
and legs. Men with Cushing disease may have erectile dysfunction. Children with 88803002
Cushing disease typically experience slow growth.
related-gene-list
Cutis laxa https://ghr.nlm.nih.gov/condition/cutis-laxa Cutis laxa is a rare disorder. About 200 affected families worldwide have html:p Cutis laxa is a disorder of connective tissue, which is the tissue that forms ad autosomal dominant ALDH18A1 https://ghr.nlm.nih.gov/gene/ALDH18A1 dermatolysis db key 2017-03 2017-12-29
皮膚鬆弛 been reported. the body's supportive framework. Connective tissue provides structure and code memo related-gene gene-symbol ghr-page dermatomegaly GTR C0268350
(Connective tissue) strength to the muscles, joints, organs, and skin. ar autosomal recessive ATP6V0A2 https://ghr.nlm.nih.gov/gene/ATP6V0A2 db key
html:p The term "cutis laxa" is Latin for loose or lax skin, and this condition is code memo related-gene gene-symbol ghr-page GTR C0268351
characterized by skin that is sagging and not stretchy (inelastic). The skin xr X-linked recessive ATP7A https://ghr.nlm.nih.gov/gene/ATP7A db key
often hangs in loose folds, causing the face and other parts of the body to have related-gene gene-symbol ghr-page GTR C0268353
a droopy appearance. Extremely wrinkled skin may be particularly noticeable on EFEMP2 https://ghr.nlm.nih.gov/gene/EFEMP2 db key
the neck and in the armpits and groin. related-gene gene-symbol ghr-page GTR C0268355
html:p Cutis laxa can also affect connective tissue in other parts of the body, ELN https://ghr.nlm.nih.gov/gene/ELN db key
including the heart, blood vessels, joints, intestines, and lungs. The disorder related-gene gene-symbol ghr-page GeneReviews cutis-laxa
can cause heart problems and abnormal narrowing, bulging, or tearing of critical FBLN5 https://ghr.nlm.nih.gov/gene/FBLN5 db key
arteries. Affected individuals may have soft out-pouchings in the lower abdomen related-gene gene-symbol ghr-page GeneReviews efemp2-cutis-laxa
(inguinal hernia) or around the belly button (umbilical hernia). Pouches called LTBP4 https://ghr.nlm.nih.gov/gene/LTBP4 db key
diverticula can also develop in the walls of certain organs, such as the related-gene gene-symbol ghr-page GeneReviews fbln5-cutis-laxa
bladder and intestines. During childhood, some people with cutis laxa develop a PYCR1 https://ghr.nlm.nih.gov/gene/PYCR1 db key
lung disease called emphysema, which can make it difficult to breathe. Depending GeneReviews menkes
on which organs and tissues are affected, the signs and symptoms of cutis laxa db key
can range from mild to life-threatening. MeSH D003483
html:p Researchers have described several different forms of cutis laxa. The forms are db key
often distinguished by their pattern of inheritance: autosomal dominant, OMIM 123700
autosomal recessive, or X-linked. In general, the autosomal recessive forms of db key
cutis laxa tend to be more severe than the autosomal dominant forms. In addition OMIM 219100
to the features described above, some people with autosomal recessive cutis db key
laxa have delayed development, intellectual disability, seizures, and problems OMIM 219150
with movement that can worsen over time. db key
html:p The X-linked form of cutis laxa is often called occipital horn syndrome. This OMIM 219200
form of the disorder is considered a mild type of Menkes syndrome, which is a db key
condition that affects copper levels in the body. In addition to sagging and OMIM 304150
inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium db key
deposits in a bone at the base of the skull (the occipital bone), coarse hair, OMIM 612940
and loose joints. db key
OMIM 613177
db key
OMIM 614100
db key
OMIM 614434
db key
OMIM 614437
db key
OMIM 614438
db key
OMIM 616603
db key
Orphanet 209
db key
Orphanet 228285
db key
SNOMED CT 58588007
db key
SNOMED CT 59399004
db key
SNOMED CT 59451000
db key
related-gene-list SNOMED CT 73856006
Cyclic neutropenia https://ghr.nlm.nih.gov/condition/cyclic-neutropenia Cyclic neutropenia is a rare condition and is estimated to occur in 1 in 1 html:p Cyclic neutropenia is a disorder that causes frequent infections and other ad autosomal dominant ELANE https://ghr.nlm.nih.gov/gene/ELANE cyclic hematopoesis db key 2017-09 2017-12-29
週期性嗜中性白血球減少症 million individuals worldwide. health problems in affected individuals. People with this condition have cyclic leucopenia GTR C0221023
recurrent episodes of neutropenia during which there is a shortage (deficiency) periodic neutropenia db key
of neutrophils. Neutrophils are a type of white blood cell that plays a role in GeneReviews cyclic-n
inflammation and in fighting infection. The episodes of neutropenia are apparent db key
at birth or soon afterward. For most affected individuals, neutropenia recurs ICD-10-CM D70.4
every 21 days and lasts about 3 to 5 days. db key
html:p Neutropenia makes it more difficult for the body to fight off pathogens such as MeSH D009503
bacteria and viruses, so people with cyclic neutropenia typically develop db key
recurrent infections of the sinuses, respiratory tract, and skin. Additionally, OMIM 162800
people with this condition often develop open sores (ulcers) in the mouth and db key
colon, inflammation of the throat (pharyngitis) and gums (gingivitis), recurrent Orphanet 2686
fever, or abdominal pain. People with cyclic neutropenia have these health db key
problems only during episodes of neutropenia. At times when their neutrophil SNOMED CT 191347008
levels are normal, they are not at an increased risk of infection and
inflammation.
related-gene-list
Cyclic vomiting syndrome https://ghr.nlm.nih.gov/condition/cyclic-vomiting-syndrome The exact prevalence of cyclic vomiting syndrome is unknown; estimates html:p Cyclic vomiting syndrome is a disorder that causes recurrent episodes of nausea, m mitochondrial mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna abdominal migraine db key 2014-03 2017-12-29
週期性嘔吐症候 range from 4 to 2,000 per 100,000 children. The condition is diagnosed less vomiting, and tiredness (lethargy). This condition is diagnosed most often in code memo CVS GTR C0152164
frequently in adults, although recent studies suggest that the condition may young children, but it can affect people of any age. u pattern unknown cyclical vomiting db key
begin in adulthood as commonly as it begins in childhood. html:p The episodes of nausea, vomiting, and lethargy last anywhere from an hour to 10 cyclical vomiting syndrome ICD-10-CM G43.A
days. An affected person may vomit several times per hour, potentially leading periodic vomiting db key
to a dangerous loss of fluids (dehydration). Additional symptoms can include ICD-10-CM G43.A0
unusually pale skin (pallor), abdominal pain, diarrhea, headache, fever, and an db key
increased sensitivity to light (photophobia) or to sound (phonophobia). In most ICD-10-CM G43.A1
affected people, the signs and symptoms of each attack are quite similar. These db key
attacks can be debilitating, making it difficult for an affected person to go to MeSH D014839
work or school. db key
html:p Episodes of nausea, vomiting, and lethargy can occur regularly or apparently at OMIM 500007
random, or can be triggered by a variety of factors. The most common triggers db key
are emotional excitement and infections. Other triggers can include periods SNOMED CT 18773000
without eating (fasting), temperature extremes, lack of sleep, overexertion,
allergies, ingesting certain foods or alcohol, and menstruation.
html:p If the condition is not treated, episodes usually occur four to 12 times per
year. Between attacks, vomiting is absent, and nausea is either absent or much
reduced. However, many affected people experience other symptoms during and
between episodes, including pain, lethargy, digestive disorders such as
gastroesophageal reflux and irritable bowel syndrome, and fainting spells
(syncope). People with cyclic vomiting syndrome are also more likely than people
without the disorder to experience depression, anxiety, and panic disorder. It
is unclear whether these health conditions are directly related to nausea and
vomiting.
html:p Cyclic vomiting syndrome is often considered to be a variant of migraines, which
are severe headaches often associated with pain, nausea, vomiting, and extreme
sensitivity to light and sound. Cyclic vomiting syndrome is likely the same as
or closely related to a condition called abdominal migraine, which is
characterized by attacks of stomach pain and cramping. Attacks of nausea,
vomiting, or abdominal pain in childhood may be replaced by migraine headaches
as an affected person gets older. Many people with cyclic vomiting syndrome or
abdominal migraine have a family history of migraines.
html:p Most people with cyclic vomiting syndrome have normal intelligence, although
some affected people have developmental delay or intellectual disability. Autism
spectrum disorders, which affect communication and social interaction, have
also been associated with cyclic vomiting syndrome. Additionally, muscle
weakness (myopathy) and seizures are possible. People with any of these
additional features are said to have cyclic vomiting syndrome plus.
related-gene-list
Cystic fibrosis https://ghr.nlm.nih.gov/condition/cystic-fibrosis Cystic fibrosis is a common genetic disease within the white population in html:p Cystic fibrosis is an inherited disease characterized by the buildup of thick, ar autosomal recessive CFTR https://ghr.nlm.nih.gov/gene/CFTR CF db key 2012-08 2017-12-29
囊性纤维化症 the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. sticky mucus that can damage many of the body's organs. The disorder's most cystic fibrosis of pancreas GTR C0010674
Cystic fibrosis is less common in other ethnic groups, affecting about 1 in common signs and symptoms include progressive damage to the respiratory system fibrocystic disease of pancreas db key
17,000 African Americans and 1 in 31,000 Asian Americans. and chronic digestive system problems. The features of the disorder and their mucoviscidosis GeneReviews cf
severity varies among affected individuals. db key
html:p Mucus is a slippery substance that lubricates and protects the linings of the ICD-10-CM E84
airways, digestive system, reproductive system, and other organs and tissues. db key
In people with cystic fibrosis, the body produces mucus that is abnormally thick ICD-10-CM E84.0
and sticky. This abnormal mucus can clog the airways, leading to severe db key
problems with breathing and bacterial infections in the lungs. These infections ICD-10-CM E84.1
cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and db key
infections result in permanent lung damage, including the formation of scar ICD-10-CM E84.8
tissue (fibrosis) and cysts in the lungs. db key
html:p Most people with cystic fibrosis also have digestive problems. Some affected ICD-10-CM E84.9
babies have meconium ileus, a blockage of the intestine that occurs shortly db key
after birth. Other digestive problems result from a buildup of thick, sticky ICD-10-CM E84.11
mucus in the pancreas. The pancreas is an organ that produces insulin (a hormone db key
that helps control blood sugar levels). It also makes enzymes that help digest ICD-10-CM E84.19
food. In people with cystic fibrosis, mucus blocks the ducts of the pancreas, db key
reducing the production of insulin and preventing digestive enzymes from ICD-10-CM Z14.1
reaching the intestines to aid digestion. Problems with digestion can lead to db key
diarrhea, malnutrition, poor growth, and weight loss. In adolescence or MeSH D003550
adulthood, a shortage of insulin can cause a form of diabetes known as cystic db key
fibrosis-related diabetes mellitus (CFRDM). OMIM 219700
html:p Cystic fibrosis used to be considered a fatal disease of childhood. With db key
improved treatments and better ways to manage the disease, many people with Orphanet 586
cystic fibrosis now live well into adulthood. Adults with cystic fibrosis db key
experience health problems affecting the respiratory, digestive, and SNOMED CT 190905008
reproductive systems. Most men with cystic fibrosis have congenital bilateral db key
absence of the vas deferens (CBAVD), a condition in which the tubes that carry SNOMED CT 235978006
sperm (the vas deferens) are blocked by mucus and do not develop properly. Men db key
with CBAVD are unable to father children (infertile) unless they undergo SNOMED CT 86555001
fertility treatment. Women with cystic fibrosis may experience complications in
pregnancy.
related-gene-list
Cystinosis https://ghr.nlm.nih.gov/condition/cystinosis Cystinosis affects approximately 1 in 100,000 to 200,000 newborns html:p Cystinosis is a condition characterized by accumulation of the amino acid ar autosomal recessive CTNS https://ghr.nlm.nih.gov/gene/CTNS cystine storage disease db key 2013-05 2017-12-29
胱胺酸症 worldwide. The incidence is higher in the province of Brittany, France, where cystine (a building block of proteins) within cells. Excess cystine damages GTR C0010690
the disorder affects 1 in 26,000 individuals. cells and often forms crystals that can build up and cause problems in many db key
organs and tissues. The kidneys and eyes are especially vulnerable to damage; GTR C0268626
the muscles, thyroid, pancreas, and testes may also be affected. db key
html:p There are three distinct types of cystinosis. In order of decreasing severity, GTR C1857413
they are nephropathic cystinosis, intermediate cystinosis, and non-nephropathic db key
or ocular cystinosis. GeneReviews ctns
html:p Nephropathic cystinosis begins in infancy, causing poor growth and a particular db key
type of kidney damage (renal Fanconi syndrome) in which certain molecules that ICD-10-CM E72.04
should be reabsorbed into the bloodstream are instead eliminated in the urine. db key
The kidney problems lead to the loss of important minerals, salts, fluids, and MeSH D003554
many other nutrients. The loss of nutrients impairs growth and may result in db key
soft, bowed bones (hypophosphatemic rickets), especially in the legs. The OMIM 219750
nutrient imbalances in the body lead to increased urination, thirst, db key
dehydration, and abnormally acidic blood (acidosis). By about the age of 2, OMIM 219800
cystine crystals may be present in the clear covering of the eye (cornea). The db key
buildup of these crystals in the eye causes pain and an increased sensitivity to OMIM 219900
light (photophobia). Untreated children will experience complete kidney db key
failure by about the age of 10. Other signs and symptoms that may occur in Orphanet 213
untreated people, especially after adolescence, include muscle deterioration, db key
blindness, inability to swallow, diabetes, thyroid and nervous system problems, SNOMED CT 190681003
and an inability to father children (infertility) in affected men. db key
html:p The signs and symptoms of intermediate cystinosis are the same as nephropathic SNOMED CT 22830006
cystinosis, but they occur at a later age. Intermediate cystinosis typically db key
becomes apparent in affected individuals in adolescence. Malfunctioning kidneys SNOMED CT 236466005
and corneal crystals are the main initial features of this disorder. If
intermediate cystinosis is left untreated, complete kidney failure will occur,
but usually not until the late teens to mid-twenties.
html:p People with non-nephropathic or ocular cystinosis typically experience
photophobia due to cystine crystals in the cornea, but usually do not develop
kidney malfunction or most of the other signs and symptoms of cystinosis. Due to
the absence of severe symptoms, the age at which this form of cystinosis is
diagnosed varies widely.
related-gene-list
Cystinuria https://ghr.nlm.nih.gov/condition/cystinuria Cystinuria affects approximately 1 in 10,000 people. html:p Cystinuria is a condition characterized by the buildup of the amino acid ar autosomal recessive SLC3A1 https://ghr.nlm.nih.gov/gene/SLC3A1 CSNU db key 2014-06 2017-12-29
胱氨酸尿症 cystine, a building block of most proteins, in the kidneys and bladder. As the related-gene gene-symbol ghr-page GTR C0010691
kidneys filter blood to create urine, cystine is normally absorbed back into the SLC7A9 https://ghr.nlm.nih.gov/gene/SLC7A9 db key
bloodstream. People with cystinuria cannot properly reabsorb cystine into ICD-10-CM E72.01
their bloodstream, so the amino acid accumulates in their urine. db key
html:p As urine becomes more concentrated in the kidneys, the excess cystine forms MeSH D003555
crystals. Larger crystals become stones that may lodge in the kidneys or in the db key
bladder. Sometimes cystine crystals combine with calcium molecules in the OMIM 220100
kidneys to form large stones. These crystals and stones can create blockages in db key
the urinary tract and reduce the ability of the kidneys to eliminate waste Orphanet 214
through urine. The stones also provide sites where bacteria may cause db key
infections. SNOMED CT 85020001
inheritance-pattern-list
Cytochrome c oxidase deficiency https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency In Eastern Europe, cytochrome c oxidase deficiency is estimated to occur in html:p Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, ar autosomal recessive gene-symbol synonym complex IV deficiency db-key db key 2012-10 2017-12-29
细胞色素C氧化酶缺乏症 1 in 35,000 individuals. The prevalence of this condition outside this region including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. inheritance-pattern code memo COA5 synonym COX deficiency GTR C0268237
is unknown. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals. oxidase deficiency usually begin before age 2 but can appear later in mildly m mitochondrial gene-symbol synonym cytochrome-c oxidase deficiency db-key db key
COX6B1 synonym mitochondrial complex IV deficiency GTR C1858424
html:p The severity of cytochrome c oxidase deficiency varies widely gene-symbol db-key db key
among affected individuals, even among those in the same family. COX10 MeSH D030401
People who are mildly affected tend to have muscle weakness (myopathy) gene-symbol db-key db key
and poor muscle tone (hypotonia) with no other related health problems. COX14 OMIM 220110
More severely affected people have problems in multiple body systems, gene-symbol db-key db key
often including severe brain dysfunction (encephalomyopathy). COX15 OMIM 604377
Approximately one-quarter of individuals with cytochrome c oxidase gene-symbol db-key db key
deficiency have a type of heart disease that enlarges and weakens the heart FASTKD2 Orphanet 1561
muscle (hypertrophic cardiomyopathy). Another possible feature of this condition gene-symbol db-key db key
is an enlarged liver (hepatomegaly), which may lead to liver failure. LRPPRC Orphanet 254905
html:p Most individuals with cytochrome c oxidase deficiency have a buildup of a chemical gene-symbol db-key db key
called lactic acid in the body (lactic acidosis), which can cause nausea and an MT-CO1 SNOMED CT 67434000
irregular heart rate, and can be life-threatening. gene-symbol
MT-CO2
Many people with cytochrome c oxidase deficiency have a specific gene-symbol
html:p group of features known as Leigh syndrome. The signs and symptoms MT-CO3
of Leigh syndrome include loss of mental function, movement problems, gene-symbol
hypertrophic cardiomyopathy, eating difficulties, and brain abnormalities. SCO1
Cytochrome c oxidase deficiency is one of the many causes of Leigh syndrome. gene-symbol
SCO2
gene-symbol
SURF1
gene-symbol
TACO1
name
related-gene-list mitochondrial DNA
Cytochrome P450 oxidoreductase deficiency https://ghr.nlm.nih.gov/condition/cytochrome-p450-oxidoreductase-deficiency The prevalence of cytochrome P450 oxidoreductase deficiency is unknown. html:p Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. ar autosomal recessive POR https://ghr.nlm.nih.gov/gene/POR Antley-Bixler syndrome db key 2014-03 2017-12-29
細胞色素P450氧化還原酶缺乏症 About 65 cases have been reported worldwide.Researchers suspect that cytochrome This condition specifically affects steroid hormones, which are needed for Antley-Bixler syndrome-like phenotype with disordered steroidogenesis GTR C1860042
Antley Bixler syndrome P450 oxidoreductase deficiency is underdiagnosed and that mild cases of this normal development and reproduction. The hormonal changes associated with Antley-Bixler syndrome with disordered steroidogenesis db key
Antley Bixler症候群 disorder may be relatively common. Because the signs and symptoms can be cytochrome P450 oxidoreductase deficiency can affect the development of the combined partial deficiency of 17-hydroxylase and 21-hydroxylase GeneReviews abs
difficult to detect, people with mild cytochrome P450 oxidoreductase deficiency reproductive system, skeleton, and other parts of the body. These signs and congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 db key
may never come to medical attention. symptoms are usually present at birth or become apparent in early childhood. deficiency MeSH D054882
html:p The signs and symptoms of cytochrome P450 oxidoreductase deficiency vary from POR deficiency db key
mild to severe. Signs and symptoms of mild cases can include a failure to begin PORD OMIM 201750
menstruation by age 16 (primary amenorrhea), an inability to have biological db key
children (infertility) in both men and women, and a condition called polycystic Orphanet 63269
ovarian syndrome (PCOS). PCOS is characterized by a hormonal imbalance in women db key
that can lead to irregular menstruation, acne, excess body hair (hirsutism), and SNOMED CT 62964007
weight gain.
html:p People with moderate cases of cytochrome P450 oxidoreductase deficiency may have
external genitalia that do not look clearly male or female (ambiguous
genitalia), and they may have infertility. People with moderate cytochrome P450
oxidoreductase deficiency usually do not have skeletal abnormalities.
html:p The severe form of cytochrome P450 oxidoreductase deficiency is sometimes called
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.
Hormonal changes in affected males and females lead to the development of
ambiguous genitalia or other genital abnormalities, as well as infertility.
Severe cases are also characterized by skeletal abnormalities, particularly
involving bones of the head and face. These include premature fusion of the
skull bones (craniosynostosis), a flattened mid-face, a prominent forehead, and
low-set ears. Other skeletal abnormalities can include joint deformities
(contractures) that limit movement; unusually long, slender fingers
(arachnodactyly); bowing of the thigh bones; and radiohumeral synostosis, which
is a bone abnormality that locks the elbows in a bent position. A blockage of
the nasal passages (choanal atresia), intellectual disability, and delayed
development are also associated with the severe form of the disorder.
html:p Some women who are pregnant with fetuses affected by cytochrome P450
oxidoreductase deficiency experience mild symptoms of the disorder even though
they themselves do not have the disorder. They may develop excessive body hair
growth (hirsutism), acne, and a deep voice. These changes go away soon after
delivery.
related-gene-list
Cytogenetically normal acute myeloid leukemia https://ghr.nlm.nih.gov/condition/cytogenetically-normal-acute-myeloid-leukemia Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals html:p Cytogenetically normal acute myeloid leukemia (CN-AML) is one form of a cancer ad autosomal dominant CEBPA https://ghr.nlm.nih.gov/gene/CEBPA acute myelogenous leukemia with normal karyotype db key 2014-01 2017-12-29
急性骨髓性白血病 each year. Forty to 50 percent of people with acute myeloid leukemia have of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In code memo related-gene gene-symbol ghr-page CN-AML GTR C0023467
(Leukemia) CN-AML. normal bone marrow, early blood cells called hematopoietic stem cells develop n not inherited DNMT3A https://ghr.nlm.nih.gov/gene/DNMT3A NK-AML db key
into several types of blood cells: white blood cells (leukocytes) that protect related-gene gene-symbol ghr-page normal karyotype acute myeloid leukemia MeSH D015470
the body from infection, red blood cells (erythrocytes) that carry oxygen, and FLT3 https://ghr.nlm.nih.gov/gene/FLT3 db key
cell fragments called platelets (thrombocytes) that are involved in blood related-gene gene-symbol ghr-page Orphanet 519
clotting. In acute myeloid leukemia, the bone marrow makes large numbers of IDH1 https://ghr.nlm.nih.gov/gene/IDH1 db key
abnormal, immature white blood cells called myeloid blasts. Instead of related-gene gene-symbol ghr-page SNOMED CT 703387000
developing into normal white blood cells, the myeloid blasts develop into IDH2 https://ghr.nlm.nih.gov/gene/IDH2
cancerous leukemia cells. The large number of abnormal cells in the bone marrow related-gene gene-symbol ghr-page
interferes with the production of functional white blood cells, red blood cells, KMT2A https://ghr.nlm.nih.gov/gene/KMT2A
and platelets. related-gene gene-symbol ghr-page
html:p People with CN-AML have a shortage of all types of mature blood cells: a NPM1 https://ghr.nlm.nih.gov/gene/NPM1
shortage of white blood cells (leukopenia) leads to increased susceptibility to related-gene gene-symbol ghr-page
infections, a low number of red blood cells (anemia) causes fatigue and NRAS https://ghr.nlm.nih.gov/gene/NRAS
weakness, and a reduction in the amount of platelets (thrombocytopenia) can related-gene gene-symbol ghr-page
result in easy bruising and abnormal bleeding. Other symptoms of CN-AML may RUNX1 https://ghr.nlm.nih.gov/gene/RUNX1
include fever and weight loss. related-gene gene-symbol ghr-page
html:p The age at which CN-AML begins ranges from childhood to late adulthood. CN-AML WT1 https://ghr.nlm.nih.gov/gene/WT1
is said to be an intermediate-risk cancer because the prognosis varies: some
affected individuals respond well to normal treatment while others may require
stronger treatments. The age at which the condition begins and the prognosis are
affected by the specific genetic factors involved in the condition.
related-gene-list
Czech dysplasia https://ghr.nlm.nih.gov/condition/czech-dysplasia The prevalence of Czech dysplasia is unknown; at least 11 families have html:p Czech dysplasia is an inherited condition that affects joint function and bone ad autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 Czech dysplasia, metatarsal type db key 2008-07 2017-12-29
been affected. Most of these families reside in the Czech Republic. development. People with this condition have joint pain (osteoarthritis) that progressive pseudorheumatoid dysplasia with hypoplastic toes GTR C1836683
begins in adolescence or early adulthood. The joint pain mainly affects the spondyloarthropathy with short third and fourth toes db key
hips, knees, shoulders, and spine and may impair mobility. People with Czech MeSH D010009
dysplasia often have shortened bones in their third and fourth toes, which make db key
their first two toes appear unusually long. Affected individuals may have OMIM 609162
flattened bones of the spine (platyspondyly) or an abnormal spinal curvature, db key
such as a rounded upper back that also curves to the side (kyphoscoliosis). Orphanet 137678
Some people with Czech dysplasia have progressive hearing loss. db key
related-gene-list SNOMED CT 389159004
D-bifunctional protein deficiency https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency D-bifunctional protein deficiency is estimated to affect 1 in 100,000 html:p D-bifunctional protein deficiency is a disorder that causes deterioration of ar autosomal recessive HSD17B4 https://ghr.nlm.nih.gov/gene/HSD17B4 17-beta-hydroxysteroid dehydrogenase IV deficiency db key 2014-04 2017-12-29
D-雙功能蛋白質缺乏症 newborns. nervous system functions (neurodegeneration) beginning in infancy. Newborns with bifunctional peroxisomal enzyme deficiency GTR C0342870
D-bifunctional protein deficiency have weak muscle tone (hypotonia) and DBP deficiency db key
seizures. Most babies with this condition never acquire any developmental PBFE deficiency GeneReviews leukodys-ov
skills. Some may reach very early developmental milestones such as the ability peroxisomal bifunctional enzyme deficiency db key
to follow movement with their eyes or control their head movement, but they pseudo-Zellweger syndrome ICD-10-CM E71.541
experience a gradual loss of these skills (developmental regression) within a Zellweger-like syndrome db key
few months. As the condition gets worse, affected children develop exaggerated MeSH D018901
reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and db key
recurrent seizures (epilepsy), and loss of vision and hearing. Most children OMIM 261515
with D-bifunctional protein deficiency do not survive past the age of 2. A small db key
number of individuals with this disorder are somewhat less severely affected. SNOMED CT 238068007
They may acquire additional basic skills, such as voluntary hand movements or
unsupported sitting, before experiencing developmental regression, and they may
survive longer into childhood than more severely affected individuals.
html:p Individuals with D-bifunctional protein deficiency may have unusual facial
features, including a high forehead, widely spaced eyes (hypertelorism), a
lengthened area between the nose and mouth (philtrum), and a high arch of the
hard palate at the roof of the mouth. Affected infants may also have an
unusually large space between the bones of the skull (fontanelle). An enlarged
liver (hepatomegaly) occurs in about half of affected individuals. Because these
features are similar to those of another disorder called Zellweger syndrome
(part of a group of disorders called the Zellweger spectrum), D-bifunctional
protein deficiency is sometimes called pseudo-Zellweger syndrome.
related-gene-list
Dandy-Walker malformation https://ghr.nlm.nih.gov/condition/dandy-walker-malformation Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 html:p Dandy-Walker malformation affects brain development, primarily development of u pattern unknown FOXC1 https://ghr.nlm.nih.gov/gene/FOXC1 Dandy-Walker complex db key 2015-10 2017-12-29
Dandy-Walker氏症候群 newborns. the cerebellum, which is the part of the brain that coordinates movement. In related-gene gene-symbol ghr-page Dandy-Walker cyst GTR C0010964
individuals with this condition, various parts of the cerebellum develop ZIC1 https://ghr.nlm.nih.gov/gene/ZIC1 Dandy-Walker deformity db key
abnormally, resulting in malformations that can be observed with medical related-gene gene-symbol ghr-page Dandy-Walker syndrome ICD-10-CM Q03.1
imaging. The central part of the cerebellum (the vermis) is absent or very small ZIC4 https://ghr.nlm.nih.gov/gene/ZIC4 DWM db key
and may be abnormally positioned. The right and left sides of the cerebellum DWS MeSH D003616
may be small as well. In affected individuals, a fluid-filled cavity between the hydrocephalus, internal, Dandy-Walker type db key
brainstem and the cerebellum (the fourth ventricle) and the part of the skull hydrocephalus, noncommunicating, Dandy-Walker type OMIM 220200
that contains the cerebellum and the brainstem (the posterior fossa) are Luschka-Magendie foramina atresia db key
abnormally large. These abnormalities often result in problems with movement, Orphanet 217
coordination, intellect, mood, and other neurological functions. db key
html:p In the majority of individuals with Dandy-Walker malformation, signs and SNOMED CT 14447001
symptoms caused by abnormal brain development are present at birth or develop
within the first year of life. Some children have a buildup of fluid in the
brain (hydrocephalus) that may cause increased head size (macrocephaly). Up to
half of affected individuals have intellectual disability that ranges from mild
to severe, and those with normal intelligence may have learning disabilities.
Children with Dandy-Walker malformation often have delayed development,
particularly a delay in motor skills such as crawling, walking, and coordinating
movements. People with Dandy-Walker malformation may experience muscle
stiffness and partial paralysis of the lower limbs (spastic paraplegia), and
they may also have seizures. While rare, hearing and vision problems can be
features of this condition.
html:p Less commonly, other brain abnormalities have been reported in people with
Dandy-Walker malformation. These abnormalities include an underdeveloped or
absent tissue connecting the left and right halves of the brain (agenesis of the
corpus callosum), a sac-like protrusion of the brain through an opening at the
back of the skull (occipital encephalocele), or a failure of some nerve cells
(neurons) to migrate to their proper location in the brain during development.
These additional brain malformations are associated with more severe signs and
symptoms.
html:p Dandy-Walker malformation typically affects only the brain, but problems in
other systems can include heart defects, malformations of the urogenital tract,
extra fingers or toes (polydactyly) or fused fingers or toes (syndactyly), or
abnormal facial features.
html:p In 10 to 20 percent of people with Dandy-Walker malformation, signs and symptoms
of the condition do not appear until late childhood or into adulthood. These
individuals typically have a different range of features than those affected in
infancy, including headaches, an unsteady walking gait, paralysis of facial
muscles (facial palsy), increased muscle tone, muscle spasms, and mental and
behavioral changes. Rarely, people with Dandy-Walker malformation have no health
problems related to the condition.
html:p Problems related to hydrocephalus or complications of its treatment are the most
common cause of death in people with Dandy-Walker malformation.
related-gene-list
Danon disease https://ghr.nlm.nih.gov/condition/danon-disease Danon disease is a rare condition, but the exact prevalence is unknown. html:p Danon disease is a condition characterized by weakening of the heart muscle xd X-linked dominant LAMP2 https://ghr.nlm.nih.gov/gene/LAMP2 glycogen storage disease type 2B db key 2015-03 2017-12-29
Danon 病 (cardiomyopathy); weakening of the muscles used for movement, called skeletal glycogen storage disease type IIb GTR C0878677
muscles, (myopathy); and intellectual disability. Males with Danon disease lysosomal glycogen storage disease with normal acid maltase db key
usually develop the condition earlier than females and are more severely MeSH D052120
affected. Signs and symptoms begin in childhood or adolescence in most affected db key
males and in early adulthood in most affected females. Affected males, on OMIM 300257
average, live to age 19, while affected females live to an average age of 34. db key
html:p Cardiomyopathy is the most common symptom of Danon disease and occurs in all Orphanet 34587
males with the condition. Most affected men have hypertrophic cardiomyopathy, db key
which is a thickening of the heart muscle that may make it harder for the heart SNOMED CT 419097006
to pump blood. Other affected males have dilated cardiomyopathy, which is a
condition that weakens and enlarges the heart, preventing it from pumping blood
efficiently. Some affected men with hypertrophic cardiomyopathy later develop
dilated cardiomyopathy. Either type of cardiomyopathy can lead to heart failure
and premature death. Most women with Danon disease also develop cardiomyopathy;
of the women who have this feature, about half have hypertrophic cardiomyopathy,
and the other half have dilated cardiomyopathy.
html:p Affected individuals can have other heart-related signs and symptoms, including
a sensation of fluttering or pounding in the chest (palpitations), an abnormal
heartbeat (arrhythmia), or chest pain. Many affected individuals have
abnormalities of the electrical signals that control the heartbeat (conduction
abnormalities). People with Danon disease are often affected by a specific
conduction abnormality known as cardiac preexcitation. The type of cardiac
preexcitation most often seen in people with Danon disease is called the
Wolff-Parkinson-White syndrome pattern.
html:p Skeletal myopathy occurs in most men with Danon disease and about half of
affected women. The weakness typically occurs in the muscles of the upper arms,
shoulders, neck, and upper thighs. Many males with Danon disease have elevated
levels of an enzyme called creatine kinase in their blood, which often indicates
muscle disease.
html:p Most men with Danon disease, but only a small percentage of affected women, have
intellectual disability. If present, the disability is usually mild.
html:p There can be other signs and symptoms of the condition in addition to the three
characteristic features. Several affected individuals have had gastrointestinal
disease, breathing problems, or visual abnormalities.
related-gene-list
Darier disease https://ghr.nlm.nih.gov/condition/darier-disease The worldwide prevalence of Darier disease is unknown. The prevalence of html:p Darier disease is a skin condition characterized by wart-like blemishes on the ad autosomal dominant ATP2A2 https://ghr.nlm.nih.gov/gene/ATP2A2 Darier-White disease db key 2008-03 2017-12-29
Darier’s disease Darier disease is estimated to be 1 in 30,000 people in Scotland, 1 in 36,000 body. The blemishes are usually yellowish in color, hard to the touch, mildly Darier's Disease GTR C0022595
Darier氏病 people in northern England, and 1 in 100,000 people in Denmark. greasy, and can emit a strong odor. The most common sites for blemishes are the Keratosis Follicularis db key
毛囊角化症 scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. MeSH D007644
The mucous membranes can also be affected, with blemishes on the roof of the db key
mouth (palate), tongue, inside of the cheek, gums, and throat. Other features OMIM 124200
of Darier disease include nail abnormalities, such as red and white streaks in db key
the nails with an irregular texture, and small pits in the palms of the hands Orphanet 218
and soles of the feet. db key
html:p The wart-like blemishes characteristic of Darier disease usually appear in late SNOMED CT 239110000
childhood to early adulthood. The severity of the disease varies over time; db key
affected people experience flare-ups alternating with periods when they have SNOMED CT 400018004
fewer blemishes. The appearance of the blemishes is influenced by environmental db key
factors. Most people with Darier disease will develop more blemishes during SNOMED CT 403783009
the summertime when they are exposed to heat and humidity. UV light; minor db key
injury or friction, such as rubbing or scratching; and ingestion of certain SNOMED CT 403784003
medications can also cause an increase in blemishes. db key
html:p On occasion, people with Darier disease may have neurological disorders such as SNOMED CT 403785002
mild intellectual disability, epilepsy, and depression. Learning and behavior db key
difficulties have also been reported in people with Darier disease. Researchers SNOMED CT 403786001
do not know if these conditions, which are common in the general population, db key
are associated with the genetic changes that cause Darier disease, or if they SNOMED CT 403787005
are coincidental. Some researchers believe that behavioral problems might be db key
linked to the social stigma experienced by people with numerous skin blemishes. SNOMED CT 48611009
html:p A form of Darier disease known as the linear or segmental form is characterized
by blemishes on localized areas of the skin. The blemishes are not as
widespread as they are in typical Darier disease. Some people with the linear
form of this condition have the nail abnormalities that are seen in people with
classic Darier disease, but these abnormalities occur only on one side of the
body.
related-gene-list
Deafness and myopia syndrome https://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome The prevalence of deafness and myopia syndrome is unknown. Only a few html:p Deafness and myopia syndrome is a disorder that causes problems with both ar autosomal recessive SLITRK6 https://ghr.nlm.nih.gov/gene/SLITRK6 deafness and myopia db key 2015-11 2017-12-29
affected families have been described in the medical literature. hearing and vision. People with this disorder have moderate to profound hearing deafness, cochlear, plus GTR C1857342
loss in both ears that may worsen over time. The hearing loss may be described DFNMYP db key
as sensorineural, meaning that it is related to changes in the inner ear, or it high myopia and sensorineural deafness GeneReviews dfn-myop
may be caused by auditory neuropathy, which is a problem with the transmission high myopia-sensorineural deafness syndrome db key
of sound (auditory) signals from the inner ear to the brain. The hearing loss is myopia and deafness MeSH D006319
either present at birth (congenital) or begins in infancy, before the child db key
learns to speak (prelingual). MeSH D009216
html:p Affected individuals also have severe nearsightedness (high myopia). These db key
individuals are able to see nearby objects clearly, but objects that are farther OMIM 221200
away appear blurry. The myopia is usually diagnosed by early childhood. db key
Orphanet 363396
db key
related-gene-list SNOMED CT 720506002
Deafness-dystonia-optic neuronopathy syndrome https://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome DDON syndrome is a rare disorder; it has been reported in fewer than 70 html:p Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as xr X-linked recessive TIMM8A https://ghr.nlm.nih.gov/gene/TIMM8A Deafness-dystonia syndrome db key 2008-09 2017-12-29
people worldwide. Mohr-Tranebjærg syndrome, is characterized by hearing loss that begins early in Mohr-Tranebjærg syndrome GTR C0796074
life, problems with movement, impaired vision, and behavior problems. This db key
condition occurs almost exclusively in males. GeneReviews ddon
html:p The first symptom of DDON syndrome is hearing loss caused by nerve damage in the db key
inner ear (sensorineural hearing loss), which begins in early childhood. The MeSH D040181
hearing impairment worsens over time, and most affected individuals have db key
profound hearing loss by age 10. OMIM 304700
html:p People with DDON syndrome typically begin to develop problems with movement db key
during their teens, although the onset of these symptoms varies among affected Orphanet 52368
individuals. Some people experience involuntary tensing of the muscles db key
(dystonia), while others have difficulty coordinating movements (ataxia). The SNOMED CT 702423009
problems with movement usually worsen over time.
html:p Individuals with DDON syndrome have normal vision during childhood, but they may
begin to develop an increased sensitivity to light (photophobia) or other
vision problems during their teens. These people often have a slowly progressive
reduction in the sharpness of vision (visual acuity) and become legally blind
in mid-adulthood.
html:p People with this condition may also have behavior problems, including changes in
personality and aggressive or paranoid behaviors. They also usually develop a
gradual decline in thinking and reasoning abilities (dementia) in their forties.
The lifespan of individuals with DDON syndrome depends on the severity of the
disorder. People with severe cases have survived into their teenage years, while
those with milder cases have lived into their sixties.
related-gene-list
Dementia with Lewy bodies https://ghr.nlm.nih.gov/condition/dementia-with-lewy-bodies Dementia with Lewy bodies is estimated to affect 1.4 million people in the html:p Dementia with Lewy bodies is a nervous system disorder characterized by a ad autosomal dominant GBA https://ghr.nlm.nih.gov/gene/GBA dementia of the Lewy body type db key 2017-10 2017-12-29
United States. It accounts for about 5 percent of all dementia cases in older decline in intellectual function (dementia), a group of movement problems known related-gene gene-symbol ghr-page dementia, Lewy body GTR C0752347
individuals and is the second most common dementia after Alzheimer disease. as parkinsonism, visual hallucinations, sudden changes (fluctuations) in SNCA https://ghr.nlm.nih.gov/gene/SNCA diffuse Lewy body disease db key
behavior and intellectual ability, and acting out dreams while asleep (REM sleep related-gene gene-symbol ghr-page DLB ICD-10-CM G31.83
behavior disorder). This condition typically affects older adults, most often SNCB https://ghr.nlm.nih.gov/gene/SNCB LBD db key
developing between ages 50 and 85. The life expectancy of individuals with Lewy body dementia MeSH D020961
dementia with Lewy bodies varies; people typically survive about 5 to 7 years Lewy body disease db key
after they are diagnosed. OMIM 127750
html:p REM sleep behavior disorder is usually the first sign of dementia with Lewy db key
bodies. It can occur years before other symptoms appear. Individuals with REM SNOMED CT 80098002
sleep behavior disorder act out their dreams, talking and moving in their sleep.
This behavior becomes less pronounced as dementia with Lewy bodies worsens and
additional features develop.
html:p Dementia is often the second major feature to develop in dementia with Lewy
bodies. This intellectual decline often leads to impaired ability to perform
visual-spatial tasks such as puzzles. Affected individuals may also have poor
problem-solving skills (executive functioning), speech difficulties, and reduced
inhibitions. Problems with memory typically do not occur until later.
html:p In people with dementia with Lewy bodies, visual hallucinations typically
involve people or animals. Fluctuations in behavior and intellectual ability
include sudden changes in attention, thought processes, and mood. Affected
individuals might have inconsistent behaviors, unintelligible speech, and brief
episodes of altered consciousness that may appear as staring spells.
html:p Parkinsonism is usually the last major feature to develop in people with
dementia with Lewy bodies. In affected individuals, the movement problems
typically include tremors, rigidity, unusually slow movement (bradykinesia), and
impaired balance and coordination (postural instability). Affected individuals
often require walking aids or wheelchair assistance.
html:p Individuals with dementia with Lewy bodies may also experience a sharp drop in
blood pressure upon standing (orthostatic hypotension), fainting episodes
(syncope), difficulty controlling the flow of urine (incontinence), or
constipation.
related-gene-list
Dent disease https://ghr.nlm.nih.gov/condition/dent-disease Dent disease is a rare condition, with about 250 affected families html:p Dent disease is a chronic kidney disorder that occurs almost exclusively in xr X-linked recessive CLCN5 https://ghr.nlm.nih.gov/gene/CLCN5 Dent's disease db key 2012-09 2017-12-29
凹陷疾病 reported. Dent disease 1 is more common than Dent disease 2.Dent disease is males. In affected individuals, kidney problems result from damage to structures related-gene gene-symbol ghr-page Dents disease GTR C1845167
likely underdiagnosed because it may not be identified in people with mild signs called proximal tubules. Signs and symptoms of this condition appear in early OCRL https://ghr.nlm.nih.gov/gene/OCRL db key
and symptoms, and because its features overlap with those of other kidney childhood and worsen over time. GTR C1848336
disorders. html:p The most frequent sign of Dent disease is the presence of an abnormally large db key
amount of proteins in the urine (tubular proteinuria). Other common signs of the GeneReviews dent
disorder include excess calcium in the urine (hypercalciuria), calcium deposits db key
in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). Kidney MeSH D057973
stones can cause abdominal pain and blood in the urine (hematuria). In most db key
affected males, progressive kidney problems lead to end-stage renal disease OMIM 300009
(ESRD) in early to mid-adulthood. ESRD is a life-threatening failure of kidney db key
function that occurs when the kidneys are no longer able to filter fluids and OMIM 300555
waste products from the body effectively. db key
html:p Some people with Dent disease develop rickets, a bone disorder that results when Orphanet 1652
the levels of vitamin D and certain minerals (including calcium) in the blood db key
become too low. Rickets can be associated with weakening and softening of the SNOMED CT 444645005
bones, bone pain, bowed legs, and difficulty walking.
html:p Researchers have described two forms of Dent disease, which are distinguished by
their genetic cause and pattern of signs and symptoms. Both forms of Dent
disease (type 1 and type 2) are characterized by the features described above,
but Dent disease 2 can also be associated with abnormalities unrelated to kidney
function. These additional signs and symptoms include mild intellectual
disability, weak muscle tone (hypotonia), and clouding of the lens of the eyes
(cataract) that is described as subclinical because it does not impair vision.
Some researchers consider Dent disease 2 to be a mild variant of a similar
disorder called Lowe syndrome.
related-gene-list
Dentatorubral-pallidoluysian atrophy https://ghr.nlm.nih.gov/condition/dentatorubral-pallidoluysian-atrophy DRPLA is most common in the Japanese population, where it has an estimated html:p Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive ad autosomal dominant ATN1 https://ghr.nlm.nih.gov/gene/ATN1 DRPLA db key 2008-11 2017-12-29
Dentatorubropallidoluysian atrophy, DRPLA incidence of 2 to 7 per million people. This condition has also been seen in brain disorder that causes involuntary movements, mental and emotional problems, Haw River syndrome GTR C0751781
齒狀紅核蒼白球肌萎縮症 families from North America and Europe.Although DRPLA is rare in the United and a decline in thinking ability. The average age of onset of DRPLA is 30 Myoclonic epilepsy with choreoathetosis db key
（Brain) States, it has been studied in a large African American family from the Haw years, but this condition can appear anytime from infancy to mid-adulthood. Naito-Oyanagi disease GeneReviews drpla
River area of North Carolina. When the family was first identified, researchers html:p The signs and symptoms of DRPLA differ somewhat between affected children and NOD db key
named the disorder Haw River syndrome. Later, researchers determined that Haw adults. When DRPLA appears before age 20, it most often involves episodes of MeSH D020191
River syndrome and DRPLA are the same condition. involuntary muscle jerking or twitching (myoclonus), seizures, behavioral db key
changes, intellectual disability, and problems with balance and coordination OMIM 125370
(ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms db key
are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric Orphanet 101
symptoms such as delusions, and deterioration of intellectual function db key
(dementia). SNOMED CT 68116008
related-gene-list
Dentinogenesis imperfecta https://ghr.nlm.nih.gov/condition/dentinogenesis-imperfecta Dentinogenesis imperfecta affects an estimated 1 in 6,000 to 8,000 people. html:p Dentinogenesis imperfecta is a disorder of tooth development. This condition ad autosomal dominant DSPP https://ghr.nlm.nih.gov/gene/DSPP DGI db key 2017-06 2017-12-29
牙本质发育不全症 causes the teeth to be discolored (most often a blue-gray or yellow-brown color) hereditary opalescent dentin GTR C0205730
(Dental) and translucent. Teeth are also weaker than normal, making them prone to rapid db key
wear, breakage, and loss. These problems can affect both primary (baby) teeth GTR C0399378
and permanent teeth. db key
html:p Researchers have described three types of dentinogenesis imperfecta with similar ICD-10-CM Q78.0
dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, db key
a genetic condition in which bones are brittle and easily broken. MeSH D003811
Dentinogenesis imperfecta type II and type III usually occur in people without db key
other inherited disorders. A few older individuals with type II have had OMIM 125420
progressive high-frequency hearing loss in addition to dental abnormalities, but db key
it is not known whether this hearing loss is related to dentinogenesis OMIM 125490
imperfecta. db key
html:p Some researchers believe that dentinogenesis imperfecta type II and type III, OMIM 125500
along with a condition called dentin dysplasia type II, are actually forms of a db key
single disorder. The signs and symptoms of dentin dysplasia type II are very Orphanet 1653
similar to those of dentinogenesis imperfecta. However, dentin dysplasia type db key
II affects the primary teeth much more than the permanent teeth. Orphanet 166260
db key
Orphanet 166265
db key
Orphanet 49042
db key
SNOMED CT 196286005
db key
SNOMED CT 234969005
db key
related-gene-list SNOMED CT 234970006
Denys-Drash syndrome https://ghr.nlm.nih.gov/condition/denys-drash-syndrome The prevalence of Denys-Drash syndrome is unknown; at least 150 affected html:p Denys-Drash syndrome is a condition that affects the kidneys and genitalia. ad autosomal dominant WT1 https://ghr.nlm.nih.gov/gene/WT1 DDS db key 2013-03 2017-12-29
Denys-Drash症候群 individuals have been reported in the scientific literature. html:p Denys-Drash syndrome is characterized by kidney disease that begins within the Drash syndrome GTR C0950121
Wilms tumor first few months of life. Affected individuals have a condition called diffuse nephropathy, Wilms tumor, and genital anomalies db key
威爾姆氏腫瘤 glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are Wilms tumor and pseudohermaphroditism GeneReviews wilms-ov
(Renal) the tiny blood vessels in the kidneys that filter waste from blood. In people db key
with Denys-Drash syndrome, this condition often leads to kidney failure in MeSH D030321
childhood. People with Denys-Drash syndrome have an estimated 90 percent chance db key
of developing a rare form of kidney cancer known as Wilms tumor. Affected OMIM 194080
individuals may develop multiple tumors in one or both kidneys. db key
html:p Although males with Denys-Drash syndrome have the typical male chromosome Orphanet 220
pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do db key
not look clearly male or clearly female (ambiguous genitalia) or the genitalia SNOMED CT 236385009
appear completely female. The testes of affected males are undescended, which
means they are abnormally located in the pelvis, abdomen, or groin. As a result,
males with Denys-Drash are typically unable to have biological children
(infertile).
html:p Affected females usually have normal genitalia and have only the kidney features
of the condition. Because they do not have all the features of the condition,
females are usually given the diagnosis of isolated nephrotic syndrome.
related-gene-list
Deoxyguanosine kinase deficiency https://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency The prevalence of deoxyguanosine kinase deficiency is unknown. html:p Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver ar autosomal recessive DGUOK https://ghr.nlm.nih.gov/gene/DGUOK DGUOK-related mitochondrial DNA depletion syndrome db key 2009-12 2017-12-29
脫氧鳥苷激酶缺乏症 Approximately 100 affected individuals have been identified. disease and neurological problems. Researchers have described two forms of this hepatocerebral mitochondrial DNA depletion syndrome GTR C3151513
disorder. The majority of affected individuals have the more severe form, which mitochondrial DNA depletion syndrome, hepatocerebral form db key
is called hepatocerebral because of the serious problems it causes in the liver GeneReviews dguok-mtddepl
and brain. db key
html:p Newborns with the hepatocerebral form of deoxyguanosine kinase deficiency may MeSH D028361
have a buildup of lactic acid in the body (lactic acidosis) within the first few db key
days after birth. They may also have weakness, behavior changes such as poor OMIM 251880
feeding and decreased activity, and vomiting. Affected newborns sometimes have db key
low blood sugar (hypoglycemia) as a result of liver dysfunction. During the Orphanet 35698
first few weeks of life they begin showing other signs of liver disease which db key
may result in liver failure. They also develop progressive neurological problems SNOMED CT 237995002
including very weak muscle tone (severe hypotonia), abnormal eye movements
(nystagmus) and the loss of skills they had previously acquired (developmental
regression). Children with this form of the disorder usually do not survive past
the age of 2 years.
html:p Some individuals with deoxyguanosine kinase deficiency have a milder form of the
disorder without severe neurological problems. Liver disease is the primary
symptom of this form of the disorder, generally becoming evident during infancy
or childhood. Occasionally it first appears after an illness such as a viral
infection. Affected individuals may also develop kidney problems. Mild hypotonia
is the only neurological effect associated with this form of the disorder.
related-gene-list
Dermatofibrosarcoma protuberans https://ghr.nlm.nih.gov/condition/dermatofibrosarcoma-protuberans Dermatofibrosarcoma protuberans is estimated to occur in 1 in 100,000 to 1 html:p Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in n not inherited COL1A1 https://ghr.nlm.nih.gov/gene/COL1A1 Darier-Ferrand tumor db key 2011-09 2017-12-29
隆突性皮膚纖維肉瘤 in 1 million people per year. the deep layers of skin. This condition is a type of soft tissue sarcoma, which related-gene gene-symbol ghr-page Darier-Hoffmann tumor GTR C0392784
(Cancer) are cancers that affect skin, fat, muscle, and similar tissues. PDGFB https://ghr.nlm.nih.gov/gene/PDGFB dermatofibrosarcoma db key
html:p In dermatofibrosarcoma protuberans, the tumor most often starts as a small, firm related-chromosome name ghr-page DFSP MeSH D018223
patch of skin, usually 1 to 5 centimeters in diameter, that is usually 17 https://ghr.nlm.nih.gov/chromosome/17 db key
purplish, reddish, or flesh-colored. The tumor typically grows slowly and can related-chromosome name ghr-page OMIM 607907
become a raised nodule. Occasionally, the tumor begins as a flat or depressed 22 https://ghr.nlm.nih.gov/chromosome/22 db key
patch of skin (plaque). Tumors are most commonly found on the torso and can also Orphanet 31112
be found on the arms, legs, head, or neck. Affected individuals usually first db key
show signs of this condition in their thirties, but the age at which a tumor SNOMED CT 276799004
appears varies widely.
html:p In dermatofibrosarcoma protuberans, the tumor has a tendency to return after
being removed. However, it does not often spread to other parts of the body
(metastasize).
html:p There are several variants of dermatofibrosarcoma protuberans in which different
cell types are involved in the tumor. Bednar tumors, often called pigmented
dermatofibrosarcoma protuberans, contain dark-colored (pigmented) cells called
melanin-containing dendritic cells. Myxoid dermatofibrosarcoma protuberans
tumors contain an abnormal type of connective tissue known as myxoid stroma.
Giant cell fibroblastoma, which is sometimes referred to as juvenile
dermatofibrosarcoma protuberans because it typically affects children and
adolescents, is characterized by giant cells in the tumor.
html:p Rarely, the tumors involved in the different types of dermatofibrosarcoma
protuberans can have regions that look similar to fibrosarcoma, a more
aggressive type of soft tissue sarcoma. In these cases, the condition is called
fibrosarcomatous dermatofibrosarcoma protuberans or FS-DFSP. FS-DFSP tumors are
more likely to metastasize than tumors in the other types of dermatofibrosarcoma
protuberans.
related-gene-list
Desmoid tumor https://ghr.nlm.nih.gov/condition/desmoid-tumor Desmoid tumors are rare, affecting an estimated 1 to 2 per 500,000 people html:p A desmoid tumor is an abnormal growth that arises from connective tissue, which ad autosomal dominant APC https://ghr.nlm.nih.gov/gene/APC aggressive fibromatosis db key 2013-03 2017-12-29
纖維類瘤 worldwide. In the United States, 900 to 1,500 new cases are diagnosed per year. is the tissue that provides strength and flexibility to structures such as code memo related-gene gene-symbol ghr-page deep fibromatosis GTR C1851124
(Tumor) Sporadic desmoid tumors are more common than those associated with familial bones, ligaments, and muscles. Typically, a single tumor develops, although some ar autosomal recessive CTNNB1 https://ghr.nlm.nih.gov/gene/CTNNB1 desmoid fibromatosis db key
adenomatous polyposis. people have multiple tumors. The tumors can occur anywhere in the body. Tumors familial infiltrative fibromatosis MeSH D018222
that form in the abdominal wall are called abdominal desmoid tumors; those that hereditary desmoid disease db key
arise from the tissue that connects the abdominal organs are called musculoaponeurotic fibromatosis OMIM 135290
intra-abdominal desmoid tumors; and tumors found in other regions of the body db key
are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most SNOMED CT 47284001
often in the shoulders, upper arms, and upper legs.
html:p Desmoid tumors are fibrous, much like scar tissue. They are generally not
considered cancerous (malignant) because they do not spread to other parts of
the body (metastasize); however, they can aggressively invade the surrounding
tissue and can be very difficult to remove surgically. These tumors often recur,
even after apparently complete removal.
html:p The most common symptom of desmoid tumors is pain. Other signs and symptoms,
which are often caused by growth of the tumor into surrounding tissue, vary
based on the size and location of the tumor. Intra-abdominal desmoid tumors can
block the bowel, causing constipation. Extra-abdominal desmoid tumors can
restrict the movement of affected joints and cause limping or difficulty moving
the arms or legs.
html:p Desmoid tumors occur frequently in people with an inherited form of colon cancer
called familial adenomatous polyposis (FAP). These individuals typically
develop intra-abdominal desmoid tumors in addition to abnormal growths (called
polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of
an inherited condition are described as sporadic.
related-gene-list
Desmosterolosis https://ghr.nlm.nih.gov/condition/desmosterolosis The prevalence of desmosterolosis is unknown; at least 10 affected html:p Desmosterolosis is a condition that is characterized by neurological problems, ar autosomal recessive DHCR24 https://ghr.nlm.nih.gov/gene/DHCR24 deficiency of 3beta-hydroxysterol delta24-reductase db key 2014-08 2017-12-29
individuals have been described in the scientific literature. such as brain abnormalities and developmental delay, and can also include other GTR C1865596
signs and symptoms. db key
html:p Children with desmosterolosis have delayed speech and motor skills (such as MeSH D008052
sitting and walking). Later in childhood, some affected individuals are able to db key
walk with support; verbal communication is often limited to a few words or OMIM 602398
phrases. Common brain abnormalities in desmosterolosis include malformation of db key
the tissue that connects the left and right halves of the brain (the corpus Orphanet 35107
callosum) and loss of white matter, which consists of nerve fibers covered by a db key
fatty substance called myelin. SNOMED CT 709490002
html:p People with desmosterolosis commonly have muscle stiffness (spasticity) and
stiff, rigid joints (arthrogryposis) affecting their hands and feet. Other
features seen in some affected individuals include short stature, abnormal head
size (either larger or smaller than normal), a small lower jaw (micrognathia),
an opening in the roof of the mouth (cleft palate), involuntary eye movements
(nystagmus) or eyes that do not look in the same direction (strabismus), heart
defects, and seizures.
related-gene-list
Diamond-Blackfan anemia, DBA https://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia Diamond-Blackfan anemia affects approximately 5 to 7 per million liveborn html:p Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of ad autosomal dominant RPL5 https://ghr.nlm.nih.gov/gene/RPL5 Aase-Smith syndrome II db key 2012-02 2017-12-29
先天性纯红血球再生障碍性贫血 infants worldwide. bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone related-gene gene-symbol ghr-page Aase syndrome GTR C0265265
(Blood) marrow malfunctions and fails to make enough red blood cells, which carry oxygen RPL11 https://ghr.nlm.nih.gov/gene/RPL11 BDA db key
to the body's tissues. The resulting shortage of red blood cells (anemia) related-gene gene-symbol ghr-page BDS GTR C1260899
usually becomes apparent during the first year of life. Symptoms of anemia RPL35A https://ghr.nlm.nih.gov/gene/RPL35A Blackfan Diamond anemia db key
include fatigue, weakness, and an abnormally pale appearance (pallor). related-gene gene-symbol ghr-page Blackfan-Diamond disease GTR C1853666
html:p People with Diamond-Blackfan anemia have an increased risk of several serious RPS7 https://ghr.nlm.nih.gov/gene/RPS7 Blackfan-Diamond syndrome db key
complications related to their malfunctioning bone marrow. Specifically, they related-gene gene-symbol ghr-page chronic congenital agenerative anemia GTR C1857719
have a higher-than-average chance of developing myelodysplastic syndrome (MDS), RPS10 https://ghr.nlm.nih.gov/gene/RPS10 congenital erythroid hypoplastic anemia db key
which is a disorder in which immature blood cells fail to develop normally. related-gene gene-symbol ghr-page congenital hypoplastic anemia of Blackfan and Diamond GTR C2675511
Affected individuals also have an increased risk of developing certain cancers, RPS17 https://ghr.nlm.nih.gov/gene/RPS17 congenital pure red cell anemia db key
including a cancer of blood-forming tissue known as acute myeloid leukemia (AML) related-gene gene-symbol ghr-page congenital pure red cell aplasia GTR C2675512
and a type of bone cancer called osteosarcoma. RPS19 https://ghr.nlm.nih.gov/gene/RPS19 DBA db key
html:p Approximately half of individuals with Diamond-Blackfan anemia have physical related-gene gene-symbol ghr-page erythrogenesis imperfecta GTR C2675859
abnormalities. They may have an unusually small head size (microcephaly) and a RPS24 https://ghr.nlm.nih.gov/gene/RPS24 hypoplastic congenital anemia db key
low frontal hairline, along with distinctive facial features such as wide-set related-gene gene-symbol ghr-page inherited erythroblastopenia GTR C2675860
eyes (hypertelorism); droopy eyelids (ptosis); a broad, flat bridge of the nose; RPS26 https://ghr.nlm.nih.gov/gene/RPS26 pure hereditary red cell aplasia db key
small, low-set ears; and a small lower jaw (micrognathia). Affected individuals GTR C2750080
may also have an opening in the roof of the mouth (cleft palate) with or db key
without a split in the upper lip (cleft lip). They may have a short, webbed GTR C2750081
neck; shoulder blades which are smaller and higher than usual; and abnormalities db key
of their hands, most commonly malformed or absent thumbs. About one-third of GeneReviews diamond-b
affected individuals have slow growth leading to short stature. db key
html:p Other features of Diamond-Blackfan anemia may include eye problems such as ICD-10-CM D61.01
clouding of the lens of the eyes (cataracts), increased pressure in the eyes db key
(glaucoma), or eyes that do not look in the same direction (strabismus). MeSH D029503
Affected individuals may also have kidney abnormalities; structural defects of db key
the heart; and, in males, the opening of the urethra on the underside of the OMIM 105650
penis (hypospadias). db key
html:p The severity of Diamond-Blackfan anemia may vary, even within the same family. OMIM 606129
Increasingly, individuals with "non-classical" Diamond-Blackfan anemia have been db key
identified. This form of the disorder typically has less severe symptoms that OMIM 610629
may include mild anemia beginning in adulthood. db key
OMIM 612527
db key
OMIM 612528
db key
OMIM 612561
db key
OMIM 612562
db key
OMIM 612563
db key
OMIM 613308
db key
OMIM 613309
db key
Orphanet 124
db key
SNOMED CT 191240007
db key
SNOMED CT 71988008
db key
related-gene-list SNOMED CT 88854002
Diastrophic dysplasia https://ghr.nlm.nih.gov/condition/diastrophic-dysplasia Although the exact prevalence of diastrophic dysplasia is unknown, html:p Diastrophic dysplasia is a disorder of cartilage and bone development. Affected ar autosomal recessive SLC26A2 https://ghr.nlm.nih.gov/gene/SLC26A2 Diastrophic dwarfism db key 2008-02 2017-12-29
軟骨生成不全 researchers estimate that it affects about 1 in 500,000 newborns in the United individuals have short stature with very short arms and legs. Most also have DTD GTR C0220726
(bone and cartilage) States. This condition is more common in Finland, where it affects about 1 in early-onset joint pain (osteoarthritis) and joint deformities called db key
33,000 newborns. contractures, which restrict movement. These joint problems often make it GeneReviews diastrophic-d
difficult to walk and tend to worsen with age. Additional features of db key
diastrophic dysplasia include an inward- and upward-turning foot (clubfoot), ICD-10-CM Q77.5
progressive abnormal curvature of the spine, and unusually positioned thumbs db key
(hitchhiker thumbs). About half of infants with diastrophic dysplasia are born MeSH D010009
with an opening in the roof of the mouth (a cleft palate). Swelling of the db key
external ears is also common in newborns and can lead to thickened, deformed OMIM 222600
ears. db key
html:p The signs and symptoms of diastrophic dysplasia are similar to those of another Orphanet 628
skeletal disorder called atelosteogenesis type 2; however, diastrophic dysplasia db key
tends to be less severe. Although some affected infants have breathing SNOMED CT 58561002
problems, most people with diastrophic dysplasia live into adulthood.
inheritance-pattern-list related-gene-list
DICER1 syndrome https://ghr.nlm.nih.gov/condition/dicer1-syndrome DICER1 syndrome is a rare condition; its prevalence is unknown. html:p DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous ad autosomal dominant ghr-page DICER1-related pleuropulmonary blastoma cancer predisposition syndrome db-key db key 2016-05 2017-12-29
and noncancerous (benign) tumors, most commonly certain types of tumors https://ghr.nlm.nih.gov/gene/DICER1 pleuropulmonary blastoma familial tumor and dysplasia syndrome GTR C1266144
that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland pleuropulmonary blastoma family tumor susceptibility syndrome db-key db key
in the lower neck). Affected individuals can develop one or more types of tumors, GeneReviews pp-blastoma
and members of the same family can have different types. However, the risk of db-key db key
tumor formation in individuals with DICER1 syndrome is only moderately increased MeSH D009386
compared with tumor risk in the general population; most individuals with genetic db-key db key
changes associated with this condition never develop tumors. OMIM 138800
html:p People with DICER1 syndrome who develop tumors most commonly develop db-key db key
pleuropulmonary blastoma, which is characterized by tumors that grow in lung OMIM 601200
tissue or in the outer covering of the lungs (the pleura). These tumors occur in infants db-key db key
and young children and are rare in adults. Pleuropulmonary blastoma is classified as Orphanet 284343
one of three types on the basis of tumor characteristics: in type I, the growths are db-key db key
composed of air-filled pockets called cysts; in type II, the growths contain both SNOMED CT 702411003
cysts and solid tumors (or nodules); and in type III, the growth is a solid tumor that
can fill a large portion of the chest. Pleuropulmonary blastoma is considered cancerous,
and types II and III can spread (metastasize), often to the brain, liver, or bones.
Individuals with pleuropulmonary blastoma may also develop an abnormal
accumulation of air in the chest cavity that can lead to the collapse of a lung (pneumothorax).
html:p Cystic nephroma, which involves multiple benign fluid-filled cysts in the kidneys,
can also occur; in people with DICER1 syndrome, the cysts develop early in childhood.
html:p DICER1 syndrome is also associated with tumors in the ovaries known as Sertoli-Leydig cell
tumors, which typically develop in affected women in their teens or twenties. Some
Sertoli-Leydig cell tumors release the male sex hormone testosterone; in these cases, affected
women may develop facial hair, a deep voice, and other male characteristics. Some affected women
have irregular menstrual cycles. Sertoli-Leydig cell tumors usually do not metastasize.
html:p People with DICER1 syndrome are also at risk of multinodular goiter, which is
enlargement of the thyroid gland caused by the growth of multiple fluid-filled or solid tumors
(both referred to as nodules). The nodules are generally slow-growing and benign. Despite
the growths, the thyroid's function is often normal. Rarely, individuals with DICER1 syndrome
develop thyroid cancer (thyroid carcinoma).
Diffuse Non-epidermolytic Palmoplantar Keratoderma type Unna-Thost
Unna-Throst 型非表皮分解掌蹠角化症
related-gene-list
Dihydrolipoamide dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/dihydrolipoamide-dehydrogenase-deficiency Dihydrolipoamide dehydrogenase deficiency occurs in an estimated 1 in html:p Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect ar autosomal recessive DLD https://ghr.nlm.nih.gov/gene/DLD dihydrolipoyl dehydrogenase deficiency db key 2014-09 2017-12-29
脱氢酶(缺陷) 35,000 to 48,000 individuals of Ashkenazi Jewish descent. This population several body systems. Signs and symptoms of this condition usually appear DLD deficiency GTR CN043137
typically has liver disease as the primary symptom. In other populations, the shortly after birth, and they can vary widely among affected individuals. E3 deficiency db key
prevalence of dihydrolipoamide dehydrogenase deficiency is unknown, but the html:p A common feature of dihydrolipoamide dehydrogenase deficiency is a potentially lactic acidosis due to LAD deficiency GeneReviews dld-def
condition is likely rare. life-threatening buildup of lactic acid in tissues (lactic acidosis), which can lactic acidosis due to lipoamide dehydrogenase deficiency db key
cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. lipoamide dehydrogenase deficiency MeSH D028361
Neurological problems are also common in this condition; the first symptoms in maple syrup urine disease, type III db key
affected infants are often decreased muscle tone (hypotonia) and extreme OMIM 246900
tiredness (lethargy). As the problems worsen, affected infants can have db key
difficulty feeding, decreased alertness, and seizures. Liver problems can also Orphanet 2394
occur in dihydrolipoamide dehydrogenase deficiency, ranging from an enlarged db key
liver (hepatomegaly) to life-threatening liver failure. In some affected people, SNOMED CT 29914000
liver disease, which can begin anytime from infancy to adulthood, is the
primary symptom. The liver problems are usually associated with recurrent
vomiting and abdominal pain. Rarely, people with dihydrolipoamide dehydrogenase
deficiency experience weakness of the muscles used for movement (skeletal
muscles), particularly during exercise; droopy eyelids; or a weakened heart
muscle (cardiomyopathy). Other features of this condition include excess ammonia
in the blood (hyperammonemia), a buildup of molecules called ketones in the
body (ketoacidosis), or low blood sugar levels (hypoglycemia).
html:p Typically, the signs and symptoms of dihydrolipoamide dehydrogenase deficiency
occur in episodes that may be triggered by fever, injury, or other stresses on
the body. Affected individuals are usually symptom-free between episodes. Many
infants with this condition do not survive the first few years of life because
of the severity of these episodes. Affected individuals who survive past early
childhood often have delayed growth and neurological problems, including
intellectual disability, muscle stiffness (spasticity), difficulty coordinating
movements (ataxia), and seizures.
related-gene-list
Dihydropyrimidinase deficiency https://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency Dihydropyrimidinase deficiency is thought to be a rare disorder. Only a few html:p Dihydropyrimidinase deficiency is a disorder that can cause neurological and ar autosomal recessive DPYS https://ghr.nlm.nih.gov/gene/DPYS dihydropyrimidinuria db key 2014-09 2017-12-29
二氫嘧啶酶缺乏症 dozen affected individuals have been described in the medical literature. gastrointestinal problems in some affected individuals. Other people with dihydrouracil amidohydrolase deficiency GTR C0342803
dihydropyrimidinase deficiency have no signs or symptoms related to the DPH deficiency db key
disorder, and in these individuals the condition can be diagnosed only by DPYS deficiency MeSH D011686
laboratory testing. db key
html:p The neurological abnormalities that occur most often in people with OMIM 222748
dihydropyrimidinase deficiency are intellectual disability, seizures, and weak db key
muscle tone (hypotonia). An abnormally small head size (microcephaly) and Orphanet 38874
autistic behaviors that affect communication and social interaction also occur db key
in some individuals with this condition. SNOMED CT 238014002
html:p Gastrointestinal problems that occur in dihydropyrimidinase deficiency include
backflow of acidic stomach contents into the esophagus (gastroesophageal reflux)
and recurrent episodes of vomiting (cyclic vomiting). Affected individuals can
also have deterioration (atrophy) of the small, finger-like projections (villi)
that line the small intestine and provide a large surface area with which to
absorb nutrients. This condition, called villous atrophy, can lead to difficulty
absorbing nutrients from foods (malabsorption), resulting in a failure to grow
and gain weight at the expected rate (failure to thrive).
html:p People with dihydropyrimidinase deficiency, including those who otherwise
exhibit no symptoms, may be vulnerable to severe, potentially life-threatening
toxic reactions to certain drugs called fluoropyrimidines that are used to treat
cancer. Common examples of these drugs are 5-fluorouracil and capecitabine.
These drugs may not be broken down efficiently and can build up to toxic levels
in the body (fluoropyrimidine toxicity), leading to drug reactions including
gastrointestinal problems, blood abnormalities, and other signs and symptoms.
related-gene-list
Dihydropyrimidine dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/dihydropyrimidine-dehydrogenase-deficiency Severe dihydropyrimidine dehydrogenase deficiency, with its early-onset html:p Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide ad autosomal dominant DPYD https://ghr.nlm.nih.gov/gene/DPYD dihydropyrimidinuria db key 2015-09 2017-12-29
二氫嘧啶脫氫酶缺乏症 neurological symptoms, is a rare disorder. Its prevalence is unknown. However, range of severity, with neurological problems in some individuals and no signs code memo DPD deficiency GTR C2720286
between 2 and 8 percent of the general population may be vulnerable to toxic or symptoms in others. ar autosomal recessive familial pyrimidemia db key
reactions to fluoropyrimidine drugs caused by otherwise asymptomatic html:p In people with severe dihydropyrimidine dehydrogenase deficiency, the disorder hereditary thymine-uraciluria MeSH D054067
dihydropyrimidine dehydrogenase deficiency. becomes apparent in infancy. These affected individuals have neurological db key
problems such as recurrent seizures (epilepsy), intellectual disability, a small OMIM 274270
head size (microcephaly), increased muscle tone (hypertonia), delayed db key
development of motor skills such as walking, and autistic behaviors that affect Orphanet 1675
communication and social interaction. Other affected individuals are db key
asymptomatic, which means they do not have any signs or symptoms of the SNOMED CT 77365006
condition. Individuals with asymptomatic dihydropyrimidine dehydrogenase
deficiency may be identified only by laboratory testing.
html:p People with dihydropyrimidine dehydrogenase deficiency, including those who
otherwise exhibit no symptoms, are vulnerable to severe, potentially
life-threatening toxic reactions to certain drugs called fluoropyrimidines that
are used to treat cancer. Common examples of these drugs are 5-fluorouracil and
capecitabine. These drugs are not broken down efficiently by people with
dihydropyrimidine dehydrogenase deficiency and build up to toxic levels in the
body (fluoropyrimidine toxicity). Severe inflammation and ulceration of the
lining of the gastrointestinal tract (mucositis) may occur, which can lead to
signs and symptoms including mouth sores, abdominal pain, bleeding, nausea,
vomiting, and diarrhea. Fluoropyrimidine toxicity may also lead to low numbers
of white blood cells (neutropenia), which increases the risk of infections. It
can also be associated with low numbers of platelets in the blood
(thrombocytopenia), which impairs blood clotting and may lead to abnormal
bleeding (hemorrhage). Redness, swelling, numbness, and peeling of the skin on
the palms and soles (hand-foot syndrome); shortness of breath; and hair loss may
also occur.
related-gene-list
Dilated cardiomyopathy with ataxia syndrome https://ghr.nlm.nih.gov/condition/dilated-cardiomyopathy-with-ataxia-syndrome DCMA syndrome is a very rare disorder. Approximately 30 cases have been html:p Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition ar autosomal recessive DNAJC19 https://ghr.nlm.nih.gov/gene/DNAJC19 3-methylglutaconic aciduria type V db key 2014-07 2017-12-29
identified in the Dariusleut Hutterite population of the Great Plains region of characterized by heart problems, movement difficulties, and other features DCMA GTR C1857776
Canada. Only a few affected individuals have been identified outside this affecting multiple body systems. DCMA syndrome db key
population. html:p Beginning in infancy to early childhood, most people with DCMA syndrome develop DNAJC19 defect ICD-10-CM E71.111
dilated cardiomyopathy, which is a condition that weakens and enlarges the MGA type V db key
heart, preventing it from pumping blood efficiently. Some affected individuals MGA5 MeSH D008661
also have long QT syndrome, which is a heart condition that causes the cardiac MGCA5 db key
muscle to take longer than usual to recharge between beats. The irregular OMIM 610198
heartbeats (arrhythmia) can lead to fainting (syncope) or cardiac arrest and db key
sudden death. Rarely, heart problems improve over time; however, in most cases Orphanet 66634
of DCMA syndrome, affected individuals do not survive past childhood due to db key
heart failure. A small percentage of people with DCMA syndrome have no heart SNOMED CT 711412004
problems at all.
html:p By age 2, children with DCMA syndrome have problems with coordination and
balance (ataxia). These movement problems can result in delay of motor skills
such as standing and walking, but most older children with DCMA syndrome can
walk without support.
html:p In addition to heart problems and movement difficulties, most individuals with
DCMA syndrome grow slowly before and after birth, which leads to short stature.
Additionally, many affected individuals have mild intellectual disability. Many
males with DCMA syndrome have genital abnormalities such as undescended testes
(cryptorchidism) or the urethra opening on the underside of the penis
(hypospadias). Other common features of DCMA syndrome include unusually small
red blood cells (microcytic anemia), which can cause pale skin; an abnormal
buildup of fats in the liver (hepatic steatosis), which can damage the liver;
and the degeneration of nerve cells that carry visual information from the eyes
to the brain (optic nerve atrophy), which can lead to vision loss.
html:p DCMA syndrome is associated with increased levels of a substance called
3-methylglutaconic acid in the urine. The amount of acid does not appear to
influence the signs and symptoms of the condition. DCMA syndrome is one of a
group of metabolic disorders that can be diagnosed by the presence of increased
levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People
with DCMA syndrome also have high urine levels of another acid called
3-methylglutaric acid.
Disorder of leucine catabolism
白胺酸代謝異常
related-gene-list
Distal 18q deletion syndrome https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome Deletions from the q arm of chromosome 18 occur in an estimated 1 in 40,000 html:p Distal 18q deletion syndrome is a chromosomal condition that occurs when a piece ad autosomal dominant TCF4 https://ghr.nlm.nih.gov/gene/TCF4 18q deletion syndrome db key 2017-02 2017-12-29
newborns worldwide. Most of these deletions occur in the distal region of the q of the long (q) arm of chromosome 18 is missing. The term "distal" means that code memo related-gene gene-symbol ghr-page 18q- syndrome GTR C0432443
arm, leading to distal 18q deletion syndrome. the missing piece occurs near one end of the chromosome. Distal 18q deletion n not inherited TSHZ1 https://ghr.nlm.nih.gov/gene/TSHZ1 chromosome 18 long arm deletion syndrome db key
syndrome can lead to a wide variety of signs and symptoms among affected related-chromosome name ghr-page chromosome 18q deletion syndrome MeSH D025063
individuals. 18 https://ghr.nlm.nih.gov/chromosome/18 chromosome 18q monosomy db key
html:p Some common features of distal 18q deletion syndrome include short stature chromosome 18q- syndrome OMIM 601808
(often due to growth hormone deficiency), weak muscle tone (hypotonia), hearing De Grouchy syndrome
loss, and foot abnormalities such as an inward or upward-turning foot (clubfoot) del(18q) syndrome
or feet with soles that are rounded outward (rocker-bottom feet). Eye movement monosomy 18q
disorders and other vision problems, an opening in the roof of the mouth (cleft
palate), an underactive thyroid gland (hypothyroidism), heart abnormalities that
are present from birth (congenital heart defects), kidney problems, genital
abnormalities, and skin problems may also occur in this disorder. Some affected
individuals have mild facial differences such as deep-set eyes, a flat or sunken
appearance of the middle of the face (midface hypoplasia), a wide mouth, and
prominent ears. These features are often not noticeable except in a detailed
medical evaluation.
html:p Distal 18q deletion syndrome can also affect the nervous system. A common
neurological feature of this disorder is impaired myelin production
(dysmyelination). Myelin is a fatty substance that insulates nerve cells and
promotes the rapid transmission of nerve impulses. The formation of a protective
myelin sheath around nerve cells (myelination) normally begins before birth and
continues into adulthood. In people with distal 18q deletion syndrome, myelin
production is often delayed and proceeds more slowly than normal; affected
individuals may never have normal adult myelin levels. Most people with distal
18q deletion syndrome have neurological problems, although it is unclear to what
extent these problems are related to the dysmyelination. These problems include
delayed development, learning disabilities, and intellectual disability that
can range from mild to severe. Seizures; hyperactivity; mood disorders such as
anxiety, irritability, and depression; and features of autism spectrum disorders
that affect communication and social interaction may also occur. Some affected
individuals have an unusually small head size (microcephaly).
related-gene-list
Distal arthrogryposis type 1 https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1 Distal arthrogryposis type 1 affects an estimated 1 in 10,000 people html:p Distal arthrogryposis type 1 is a disorder characterized by joint deformities ad autosomal dominant MYBPC1 https://ghr.nlm.nih.gov/gene/MYBPC1 AMCD1 db key 2017-10 2017-12-29
worldwide. (contractures) that restrict movement in the hands and feet. The term related-gene gene-symbol ghr-page arthrogryposis, distal, type 1 GTR C0220662
"arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or TPM2 https://ghr.nlm.nih.gov/gene/TPM2 DA1 db key
hooked (gryposis). The characteristic features of this condition include MeSH D001176
permanently bent fingers and toes (camptodactyly), overlapping fingers, and a db key
hand deformity in which all of the fingers are angled outward toward the fifth OMIM 108120
finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, db key
is also commonly seen with distal arthrogryposis type 1. The specific hand and Orphanet 1146
foot abnormalities vary among affected individuals. However, this condition db key
typically does not cause any signs and symptoms affecting other parts of the SNOMED CT 715314008
body.
related-gene-list
Distal hereditary motor neuropathy, type II https://ghr.nlm.nih.gov/condition/distal-hereditary-motor-neuropathy-type-ii The prevalence of distal hereditary motor neuropathy, type II is unknown. html:p Distal hereditary motor neuropathy, type II is a progressive disorder that ad autosomal dominant HSPB1 https://ghr.nlm.nih.gov/gene/HSPB1 distal hereditary motor neuronopathy, type II db key 2009-08 2017-12-29
At least 25 affected families have been identified worldwide. affects nerve cells in the spinal cord. It results in muscle weakness and related-gene gene-symbol ghr-page GTR C1834692
affects movement, primarily in the legs. HSPB8 https://ghr.nlm.nih.gov/gene/HSPB8 db key
html:p Onset of distal hereditary motor neuropathy, type II ranges from the teenage GTR C2608087
years through mid-adulthood. The initial symptoms of the disorder are cramps or db key
weakness in the muscles of the big toe and later, the entire foot. Over a period MeSH D009134
of approximately 5 to 10 years, affected individuals experience a gradual loss db key
of muscle tissue (atrophy) in the lower legs. They begin to have trouble walking OMIM 158590
and running, and eventually may have complete paralysis of the lower legs. The db key
thigh muscles may also be affected, although generally this occurs later and is OMIM 608634
less severe. db key
html:p Some individuals with distal hereditary motor neuropathy, type II have weakening Orphanet 139525
of the muscles in the hands and forearms. This weakening is less pronounced db key
than in the lower limbs and does not usually result in paralysis. SNOMED CT 230247001
related-gene-list
Distal hereditary motor neuropathy, type V https://ghr.nlm.nih.gov/condition/distal-hereditary-motor-neuropathy-type-v The incidence of distal hereditary motor neuropathy, type V is unknown. html:p Distal hereditary motor neuropathy, type V is a progressive disorder that ad autosomal dominant BSCL2 https://ghr.nlm.nih.gov/gene/BSCL2 DHMN-V db key 2009-08 2017-12-29
Only a small number of cases have been reported. affects nerve cells in the spinal cord. It results in muscle weakness and related-gene gene-symbol ghr-page distal hereditary motor neuronopathy type 5 GTR C1833308
affects movement of the hands and feet. GARS https://ghr.nlm.nih.gov/gene/GARS distal hereditary motor neuronopathy, type V db key
html:p Symptoms of distal hereditary motor neuropathy, type V usually begin during related-gene gene-symbol ghr-page distal spinal muscular atrophy, type V GTR C3553656
adolescence, but onset varies from infancy to the mid-thirties. Cramps in the REEP1 https://ghr.nlm.nih.gov/gene/REEP1 DSMAV db key
hand brought on by exposure to cold temperatures are often the initial symptom. HMN V GeneReviews cmt2d
html:p The characteristic features of distal hereditary motor neuropathy, type V are spinal muscular atrophy, distal type V db key
weakness and wasting (atrophy) of muscles of the hand, specifically on the thumb spinal muscular atrophy, distal, with upper limb predominance GeneReviews spg17
side of the index finger and in the palm at the base of the thumb. Foot db key
abnormalities, such as a high arch (pes cavus), are also common, and some MeSH D009134
affected individuals eventually develop problems with walking (gait db key
disturbance). People with this disorder have normal life expectancies. OMIM 600794
db key
OMIM 614751
db key
Orphanet 139536
db key
related-gene-list SNOMED CT 230247001
Distal myopathy 2 https://ghr.nlm.nih.gov/condition/distal-myopathy-2 The prevalence of distal myopathy 2 is unknown. At least two families with html:p Distal myopathy 2 is a condition characterized by weakness of specific muscles ad autosomal dominant MATR3 https://ghr.nlm.nih.gov/gene/MATR3 distal myopathy with vocal cord and pharyngeal signs db key 2011-11 2017-12-29
the condition have been described in the scientific literature. that begins in adulthood. It is a form of muscular dystrophy that specifically distal myopathy with vocal cord weakness GTR C3807521
involves muscles in the throat, lower legs, and forearms. Muscles farther from matrin 3 distal myopathy db key
the center of the body, like the muscles of the lower legs and forearms, are MPD2 MeSH D049310
known as distal muscles. myopathia distalis type 2 db key
html:p Muscle weakness in the ankles is usually the first symptom of distal myopathy 2. VCPDM OMIM 606070
The weakness can also affect muscles in the hands, wrists, and shoulders. At vocal cord and pharyngeal weakness with distal myopathy db key
first, the muscle weakness may be on only one side of the body, but both sides Orphanet 600
are eventually involved. This muscle weakness can slowly worsen and make actions db key
like walking and lifting the fingers difficult. SNOMED CT 702383005
html:p Another characteristic feature of distal myopathy 2 is weakness of the vocal
cords and throat. This weakness initially causes the voice to sound weak or
breathy (hypophonic). Eventually, the voice becomes gurgling, hoarse, and nasal.
The weakness can also cause difficulty swallowing (dysphagia).
inheritance-pattern-list related-gene-list
DNMT3A overgrowth syndrome https://ghr.nlm.nih.gov/condition/dnmt3a-overgrowth-syndrome The prevalence of DNMT3A overgrowth syndrome is unknown. More than 20 html:p html:i ad autosomal dominant DNMT3A synonym db-key db key 2017-09 2017-12-29
affected individuals have been described in the medical literature. DNMT3A synonym GTR C4014545
db-key db key
html:p html:i MeSH D005877
DNMT3A db-key db key
OMIM 615879
db-key db key
html:p html:i SNOMED CT 48637007
DNMT3A
html:p html:i
DNMT3A
html:p html:i
DNMT3A
inheritance-pattern-list related-gene-list
DOLK-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/dolk-congenital-disorder-of-glycosylation DOLK-CDG is likely a rare condition; at least 18 cases have been reported html:p html:i -CDG, formerly known as congenital disorder of glycosylation type Im) is an ar autosomal recessive ghr-page CDG1M db-key db key 2016-03 2017-12-29
in the scientific literature. DOLK inherited condition that often affects the heart but can also involve other body https://ghr.nlm.nih.gov/gene/DOLK congenital disorder of glycosylation, type Im GTR C1835849
systems. The pattern and severity of this disorder's signs and symptoms vary DK1 deficiency db-key db key
among affected individuals. dolichol kinase deficiency GeneReviews cdg
html:p html:i DOLK-CDG db-key db key
DOLK -CDG develop a weakened and enlarged heart (dilated cardiomyopathy). Other MeSH D018981
frequent signs and symptoms include recurrent seizures; developmental delay; db-key db key
poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). Less commonly, OMIM 610768
affected individuals can have distinctive facial features, kidney disease, db-key db key
hormonal abnormalities, or eye problems. Orphanet 137
html:p Individuals with DOLK-CDG typically do not survive into adulthood, often because of complications db-key db key
related to dilated cardiomyopathy, and some do not survive past infancy. SNOMED CT 718712005
related-gene-list
Donnai-Barrow syndrome https://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome Although its prevalence is unknown, Donnai-Barrow syndrome appears to be a html:p Donnai-Barrow syndrome is an inherited disorder that affects many parts of the ar autosomal recessive LRP2 https://ghr.nlm.nih.gov/gene/LRP2 DBS db key 2013-04 2017-12-29
rare disorder. A few dozen affected individuals have been reported in many body. This disorder is characterized by unusual facial features, including DBS/FOAR syndrome GTR C1857277
regions of the world. prominent, wide-set eyes with outer corners that point downward; a short bulbous diaphragmatic hernia-exomphalos-corpus callosum agenesis db key
nose with a flat nasal bridge; ears that are rotated backward; and a widow's Diaphragmatic hernia-exomphalos-hypertelorism syndrome GeneReviews donnai
peak hairline. faciooculoacousticorenal syndrome db key
html:p Individuals with Donnai-Barrow syndrome have severe hearing loss caused by FOAR syndrome MeSH D015499
abnormalities of the inner ear (sensorineural hearing loss). In addition, they db key
often experience vision problems, including extreme nearsightedness (high OMIM 222448
myopia), detachment or deterioration of the light-sensitive tissue in the back db key
of the eye (the retina), and progressive vision loss. Some have a gap or split Orphanet 2143
in the colored part of the eye (iris coloboma). db key
html:p In almost all people with Donnai-Barrow syndrome, the tissue connecting the left SNOMED CT 702418009
and right halves of the brain (corpus callosum) is underdeveloped or absent.
Affected individuals may also have other structural abnormalities of the brain.
They generally have mild to moderate intellectual disability and developmental
delay.
html:p People with Donnai-Barrow syndrome may also have a hole in the muscle that
separates the abdomen from the chest cavity (the diaphragm), which is called a
congenital diaphragmatic hernia. This potentially serious birth defect allows
the stomach and intestines to move into the chest and possibly crowd the
developing heart and lungs. An opening in the wall of the abdomen (an
omphalocele) that allows the abdominal organs to protrude through the navel may
also occur in affected individuals. Occasionally people with Donnai-Barrow
syndrome have abnormalities of the intestine, heart, or other organs.
related-gene-list
Donohue syndrome https://ghr.nlm.nih.gov/condition/donohue-syndrome Donohue syndrome is estimated to affect less than 1 per million people html:p Donohue syndrome is a rare disorder characterized by severe insulin resistance, ar autosomal recessive INSR https://ghr.nlm.nih.gov/gene/INSR Donohue's syndrome db key 2014-12 2017-12-29
多諾霍綜合症 worldwide. Several dozen cases have been reported in the medical literature. a condition in which the body's tissues and organs do not respond properly to leprechaunism GTR C0265344
the hormone insulin. Insulin normally helps regulate blood sugar levels by leprechaunism syndrome db key
controlling how much sugar (in the form of glucose) is passed from the MeSH D056731
bloodstream into cells to be used as energy. Severe insulin resistance leads to db key
problems with regulating blood sugar levels and affects the development and OMIM 246200
function of organs and tissues throughout the body. db key
html:p Severe insulin resistance underlies the varied signs and symptoms of Donohue Orphanet 508
syndrome. Individuals with Donohue syndrome are unusually small starting before db key
birth, and affected infants experience failure to thrive, which means they do SNOMED CT 111307005
not grow and gain weight at the expected rate. Additional features that become
apparent soon after birth include a lack of fatty tissue under the skin
(subcutaneous fat); wasting (atrophy) of muscles; excessive body hair growth
(hirsutism); multiple cysts on the ovaries in females; and enlargement of the
nipples, genitalia, kidneys, heart, and other organs. Most affected individuals
also have a skin condition called acanthosis nigricans, in which the skin in
body folds and creases becomes thick, dark, and velvety. Distinctive facial
features in people with Donohue syndrome include bulging eyes, thick lips,
upturned nostrils, and low-set ears. Affected individuals develop recurrent,
life-threatening infections beginning in infancy.
html:p Donohue syndrome is one of a group of related conditions described as inherited
severe insulin resistance syndromes. These disorders, which also include
Rabson-Mendenhall syndrome and type A insulin resistance syndrome, are
considered part of a spectrum. Donohue syndrome represents the most severe end
of the spectrum; most children with this condition do not survive beyond age 2.
related-gene-list
DOORS syndrome https://ghr.nlm.nih.gov/condition/doors-syndrome DOORS syndrome is a rare disorder; its prevalence is unknown. Approximately html:p DOORS syndrome is a disorder involving multiple abnormalities that are present ar autosomal recessive TBC1D24 https://ghr.nlm.nih.gov/gene/TBC1D24 autosomal recessive deafness-onychodystrophy syndrome db key 2015-12 2017-12-29
50 affected individuals have been described in the medical literature. from birth (congenital). "DOORS" is an abbreviation for the major features of deafness-oncychodystrophy-osteodystrophy-intellectual disability syndrome GTR C1857345
the disorder including deafness; short or absent nails (onychodystrophy); short deafness-onychoosteodystrophy-intellectual disability syndrome db key
fingers and toes (osteodystrophy); developmental delay and intellectual deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome GeneReviews tbc1d24-dis
disability (previously called mental retardation); and seizures. Some people digitorenocerebral syndrome db key
with DOORS syndrome do not have all of these features. DOOR syndrome MeSH D000015
html:p Most people with DOORS syndrome have profound hearing loss caused by changes in DRC syndrome db key
the inner ears (sensorineural deafness). Developmental delay and intellectual Eronen syndrome OMIM 220500
disability are also often severe in this disorder. db key
html:p The nail abnormalities affect both the hands and the feet in DOORS syndrome. Orphanet 79500
Impaired growth of the bones at the tips of the fingers and toes (hypoplastic db key
terminal phalanges) account for the short fingers and toes characteristic of SNOMED CT 719800009
this disorder. Some affected individuals also have an extra bone and joint in
their thumbs, causing the thumbs to look more like the other fingers
(triphalangeal thumbs).
html:p The seizures that occur in people with DOORS syndrome usually start in infancy.
The most common seizures in people with this condition are generalized
tonic-clonic seizures (also known as grand mal seizures), which cause muscle
rigidity, convulsions, and loss of consciousness. Affected individuals may also
have other types of seizures, including partial seizures, which affect only one
area of the brain and do not cause a loss of consciousness; absence seizures,
which cause loss of consciousness for a short period that appears as a staring
spell; or myoclonic seizures, which cause rapid, uncontrolled muscle jerks. In
some affected individuals the seizures increase in frequency and become more
severe and difficult to control, and a potentially life-threatening prolonged
seizure (status epilepticus) can occur.
html:p Other features that can occur in people with DOORS syndrome include an unusually
small head size (microcephaly) and facial differences, most commonly a wide,
bulbous nose. A narrow or high arched roof of the mouth (palate), broadening of
the ridges in the upper and lower jaw that contain the sockets of the teeth
(alveolar ridges), or shortening of the membrane between the floor of the mouth
and the tongue (frenulum) have also been observed in some affected individuals.
People with DOORS syndrome may also have dental abnormalities, structural
abnormalities of the heart or urinary tract, and abnormally low levels of
thyroid hormones (hypothyroidism). Most affected individuals also have
higher-than-normal levels of a substance called 2-oxoglutaric acid in their
urine; these levels can fluctuate between normal and elevated.
related-gene-list
Dopa-responsive dystonia https://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia Dopa-responsive dystonia is estimated to affect 1 per million people html:p Dopa-responsive dystonia is a disorder that involves involuntary muscle ad autosomal dominant GCH1 https://ghr.nlm.nih.gov/gene/GCH1 DRD db key 2012-05 2017-12-29
worldwide. However, the disorder is likely underdiagnosed because the condition contractions, tremors, and other uncontrolled movements (dystonia). The features code memo related-gene gene-symbol ghr-page dystonia 5, dopa-responsive type GTR C0268468
may not be identified in people with mild symptoms, or it may be misdiagnosed in of this condition range from mild to severe. This form of dystonia is called ar autosomal recessive SPR https://ghr.nlm.nih.gov/gene/SPR hereditary progressive dystonia with marked diurnal fluctuation db key
people who have symptoms similar to other movement disorders. dopa-responsive dystonia because the signs and symptoms typically improve with related-gene gene-symbol ghr-page GTR C1851920
sustained use of a medication known as L-Dopa. TH https://ghr.nlm.nih.gov/gene/TH db key
html:p Signs and symptoms of dopa-responsive dystonia usually appear during childhood, GTR C1854299
most commonly around age 6. The first signs of the condition are typically the db key
development of inward- and upward-turning feet (clubfeet) and dystonia in the GeneReviews drd
lower limbs. The dystonia spreads to the upper limbs over time; beginning in db key
adolescence, the whole body is typically involved. Affected individuals may have GeneReviews dystonia-ov
unusual limb positioning and a lack of coordination when walking or running. db key
Some people with this condition have sleep problems or episodes of depression MeSH D004421
more frequently than would normally be expected. db key
html:p Over time, affected individuals often develop a group of movement abnormalities OMIM 128230
called parkinsonism. These abnormalities include unusually slow movement db key
(bradykinesia), muscle rigidity, tremors, and an inability to hold the body OMIM 605407
upright and balanced (postural instability). db key
html:p The movement difficulties associated with dopa-responsive dystonia usually OMIM 612716
worsen with age but stabilize around age 30. A characteristic feature of db key
dopa-responsive dystonia is worsening of movement problems later in the day and Orphanet 255
an improvement of symptoms in the morning, after sleep (diurnal fluctuation). db key
html:p Rarely, the movement problems associated with dopa-responsive dystonia do not SNOMED CT 230332007
appear until adulthood. In these adult-onset cases, parkinsonism usually db key
develops before dystonia, and movement problems are slow to worsen and do not SNOMED CT 45116002
show diurnal fluctuations. db key
SNOMED CT 715768000
db key
related-gene-list SNOMED CT 715827001
Dopamine beta-hydroxylase deficiency https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency Dopamine β-hydroxylase deficiency is a very rare disorder. Fewer than 20 html:p Dopamine beta (β)-hydroxylase deficiency is a condition that affects the ar autosomal recessive DBH https://ghr.nlm.nih.gov/gene/DBH dopamine β-hydroxylase db key 2008-09 2017-12-29
affected individuals, all of Western European descent, have been described in autonomic nervous system, which controls involuntary body processes such as the noradrenaline deficiency GTR C0342687
the scientific literature. regulation of blood pressure and body temperature. Problems related to this norepinephrine deficiency db key
disorder can first appear during infancy. Early signs and symptoms may include GeneReviews dbh
episodes of vomiting, dehydration, decreased blood pressure (hypotension), db key
difficulty maintaining body temperature, and low blood sugar (hypoglycemia). MeSH D001342
html:p Individuals with dopamine β-hydroxylase deficiency typically experience a sharp db key
drop in blood pressure upon standing (orthostatic hypotension), which can cause OMIM 223360
dizziness, blurred vision, or fainting. This sudden drop in blood pressure is db key
usually more severe when getting out of bed in the morning, during hot weather, Orphanet 230
and as a person gets older. People with dopamine β-hydroxylase deficiency db key
experience extreme fatigue during exercise (exercise intolerance) due to their SNOMED CT 237923004
problems maintaining a normal blood pressure.
html:p Other features of dopamine β-hydroxylase deficiency include droopy eyelids
(ptosis), nasal congestion, and an inability to stand for a prolonged period of
time. Affected males may also experience retrograde ejaculation, a discharge of
semen backwards into the bladder. Less common features include an unusually
large range of joint movement (hypermobility) and muscle weakness.
related-gene-list
Dopamine transporter deficiency syndrome https://ghr.nlm.nih.gov/condition/dopamine-transporter-deficiency-syndrome Dopamine transporter deficiency syndrome appears to be a rare disease; only html:p Dopamine transporter deficiency syndrome is a rare movement disorder. The ar autosomal recessive SLC6A3 https://ghr.nlm.nih.gov/gene/SLC6A3 DTDS db key 2015-10 2017-12-29
about 20 affected individuals have been described in the medical literature. condition is also known as infantile parkinsonism-dystonia because the problems infantile parkinsonism-dystonia GTR C2751067
Researchers believe that the condition is probably underdiagnosed because its with movement (dystonia and parkinsonism, described below) usually start in parkinsonism-dystonia, infantile db key
signs and symptoms overlap with cerebral palsy and other movement disorders. infancy and worsen over time. However, the features of the condition sometimes PKDYS GeneReviews parkinson-overview
do not appear until childhood or later. db key
html:p People with dopamine transporter deficiency syndrome develop a pattern of GeneReviews slc6a3-dtds
involuntary, sustained muscle contractions known as dystonia. The dystonia is db key
widespread (generalized), affecting many different muscles. The continuous MeSH D010300
muscle cramping and spasms cause difficulty with basic activities, including db key
speaking, eating, drinking, picking up objects, and walking. MeSH D020821
html:p As the condition worsens, affected individuals develop parkinsonism, which is a db key
group of movement abnormalities including tremors, unusually slow movement OMIM 613135
(bradykinesia), rigidity, and an inability to hold the body upright and balanced db key
(postural instability). Other signs and symptoms that can develop include SNOMED CT 722763000
abnormal eye movements; reduced facial expression (hypomimia); disturbed sleep;
frequent episodes of pneumonia; and problems with the digestive system,
including a backflow of acidic stomach contents into the esophagus
(gastroesophageal reflux) and constipation.
html:p People with dopamine transporter deficiency syndrome may have a shortened
lifespan, although the long-term effects of this condition are not fully
understood. Children with this condition have died from pneumonia and breathing
problems. When the first signs and symptoms appear later in life, affected
individuals may survive into adulthood.
related-gene-list
Dowling-Degos disease https://ghr.nlm.nih.gov/condition/dowling-degos-disease Dowling-Degos disease appears to be a rare condition, although its html:p Dowling-Degos disease is a skin condition characterized by a lacy or net-like ad autosomal dominant KRT5 https://ghr.nlm.nih.gov/gene/KRT5 dark dot disease db key 2017-08 2017-12-29
(skin) prevalence is unknown. (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), related-gene gene-symbol ghr-page DDD GTR C3714534
particularly in the body's folds and creases. These skin changes typically first POFUT1 https://ghr.nlm.nih.gov/gene/POFUT1 Dowling-Degos-Kitamura disease db key
appear in the armpits and groin area and can later spread to other skin folds related-gene gene-symbol ghr-page reticular pigment anomaly of flexures GTR C3809147
such as the crook of the elbow, back of the knee, and under the breasts. Less POGLUT1 https://ghr.nlm.nih.gov/gene/POGLUT1 reticular pigmented anomaly of flexures db key
commonly, pigmentation changes can also occur on the neck, wrists, back of the related-gene gene-symbol ghr-page GTR C3810313
hands, face, scalp, scrotum, and vulva. These areas of hyperpigmentation PSENEN https://ghr.nlm.nih.gov/gene/PSENEN db key
typically cause no health problems. MeSH D012873
html:p Individuals with Dowling-Degos disease may also have dark spots (lesions) on the db key
face and back that resemble blackheads, red bumps around the mouth that OMIM 179850
resemble acne, or pitted scars on the face similar to acne scars but with no db key
history of acne. Fluid-filled sacs within the hair follicle (pilar cysts) may OMIM 615327
develop, most commonly on the scalp. Rarely, affected individuals have patches db key
of skin that are unusually light in color (hypopigmented). OMIM 615674
html:p In rare cases, individuals with Dowling-Degos disease experience itching db key
(pruritus) or burning sensations on the skin. These feelings can be triggered by OMIM 615696
UV light, sweating, or friction on the skin. db key
html:p The pigmentation changes characteristic of Dowling-Degos disease typically begin Orphanet 79145
in late childhood or in adolescence, although in some individuals, features of db key
the condition do not appear until adulthood. New areas of hyperpigmentation tend SNOMED CT 239054009
to develop over time, and the other skin lesions tend to increase in number as
well. While the skin changes associated with Dowling-Degos disease may cause
distress or anxiety, they typically cause no other health problems.
html:p A condition called Galli-Galli disease has signs and symptoms similar to those
of Dowling-Degos disease. In addition to pigmentation changes, individuals with
Galli-Galli disease also have a breakdown of cells in the outer layer of skin
(acantholysis). Acantholysis can cause skin irritation and itchiness and lead to
reddened or missing patches of skin (erosions). These conditions used to be
considered two separate disorders, but Galli-Galli disease and Dowling-Degos
disease are now regarded as the same condition.
related-gene-list
Down syndrome https://ghr.nlm.nih.gov/condition/down-syndrome Down syndrome occurs in about 1 in 800 newborns. About 5,300 babies with html:p Down syndrome is a chromosomal condition that is associated with intellectual n not inherited 21 https://ghr.nlm.nih.gov/chromosome/21 47,XX,+21 db key 2012-06 2017-12-29
唐氏症 Down syndrome are born in the United States each year, and approximately 200,000 disability, a characteristic facial appearance, and weak muscle tone (hypotonia) 47,XY,+21 GTR C0013080
people in this country have the condition. Although women of any age can have a in infancy. All affected individuals experience cognitive delays, but the Down's syndrome db key
child with Down syndrome, the chance of having a child with this condition intellectual disability is usually mild to moderate. trisomy 21 ICD-10-CM Q90
increases as a woman gets older. html:p People with Down syndrome may have a variety of birth defects. About half of all trisomy G db key
affected children are born with a heart defect. Digestive abnormalities, such ICD-10-CM Q90.0
as a blockage of the intestine, are less common. db key
html:p Individuals with Down syndrome have an increased risk of developing several ICD-10-CM Q90.1
medical conditions. These include gastroesophageal reflux, which is a backflow db key
of acidic stomach contents into the esophagus, and celiac disease, which is an ICD-10-CM Q90.2
intolerance of a wheat protein called gluten. About 15 percent of people with db key
Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid ICD-10-CM Q90.9
gland is a butterfly-shaped organ in the lower neck that produces hormones. db key
Individuals with Down syndrome also have an increased risk of hearing and vision MeSH D004314
problems. Additionally, a small percentage of children with Down syndrome db key
develop cancer of blood-forming cells (leukemia). OMIM 190685
html:p Delayed development and behavioral problems are often reported in children with db key
Down syndrome. Affected individuals' speech and language develop later and more Orphanet 870
slowly than in children without Down syndrome, and affected individuals' speech db key
may be more difficult to understand. Behavioral issues can include attention SNOMED CT 205615000
problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small db key
percentage of people with Down syndrome are also diagnosed with developmental SNOMED CT 205616004
conditions called autism spectrum disorders, which affect communication and db key
social interaction. SNOMED CT 254264002
html:p People with Down syndrome often experience a gradual decline in thinking ability db key
(cognition) as they age, usually starting around age 50. Down syndrome is also SNOMED CT 371045000
associated with an increased risk of developing Alzheimer disease, a brain db key
disorder that results in a gradual loss of memory, judgment, and ability to SNOMED CT 41040004
function. Approximately half of adults with Down syndrome develop Alzheimer
disease. Although Alzheimer disease is usually a disorder that occurs in older
adults, people with Down syndrome usually develop this condition in their
fifties or sixties.
related-gene-list
Duane-radial ray syndrome https://ghr.nlm.nih.gov/condition/duane-radial-ray-syndrome Duane-radial ray syndrome is a rare condition whose prevalence is unknown. html:p Duane-radial ray syndrome is a disorder that affects the eyes and causes ad autosomal dominant SALL4 https://ghr.nlm.nih.gov/gene/SALL4 DRRS db key 2009-12 2017-12-29
Only a few affected families have been reported worldwide. abnormalities of bones in the arms and hands. This condition is characterized by Okihiro syndrome GTR C1623209
a particular problem with eye movement called Duane anomaly (also known as db key
Duane syndrome). This abnormality results from the improper development of GeneReviews drrs
certain nerves that control eye movement. Duane anomaly limits outward eye db key
movement (toward the ear), and in some cases may limit inward eye movement ICD-10-CM H50.81
(toward the nose). Also, as the eye moves inward, the eye opening becomes db key
narrower and the eyeball may pull back (retract) into its socket. ICD-10-CM H50.811
html:p Bone abnormalities in the hands include malformed or absent thumbs, an extra db key
thumb, or a long thumb that looks like a finger. Partial or complete absence of ICD-10-CM H50.812
bones in the forearm is also common. Together, these hand and arm abnormalities db key
are known as radial ray malformations. MeSH D004370
html:p People with the combination of Duane anomaly and radial ray malformations may db key
have a variety of other signs and symptoms. These features include unusually OMIM 607323
shaped ears, hearing loss, heart and kidney defects, a distinctive facial db key
appearance, an inward- and upward-turning foot (clubfoot), and fused spinal Orphanet 233
bones (vertebrae). db key
html:p The varied signs and symptoms of Duane-radial ray syndrome often overlap with SNOMED CT 699867001
features of other disorders. For example, acro-renal-ocular syndrome is
characterized by Duane anomaly and other eye abnormalities, radial ray
malformations, and kidney defects. Both conditions are caused by mutations in
the same gene. Based on these similarities, researchers suspect that
Duane-radial ray syndrome and acro-renal-ocular syndrome are part of an
overlapping set of syndromes with many possible signs and symptoms. The features
of Duane-radial ray syndrome are also similar to those of a condition called
Holt-Oram syndrome; however, these two disorders are caused by mutations in
different genes.
related-gene-list
Dubin-Johnson syndrome https://ghr.nlm.nih.gov/condition/dubin-johnson-syndrome Although Dubin-Johnson syndrome occurs in people of all ethnic backgrounds, html:p Dubin-Johnson syndrome is a condition characterized by jaundice, which is a ar autosomal recessive ABCC2 https://ghr.nlm.nih.gov/gene/ABCC2 DJS db key 2009-03 2017-12-29
杜賓－強森症候群 it is more common among Iranian and Moroccan Jews living in Israel. Studies yellowing of the skin and whites of the eyes. In most affected people jaundice hyperbilirubinemia II GTR C0022350
suggest that this disorder affects 1 in 1,300 Iranian Jews in Israel. appears during adolescence or early adulthood, although a few individuals have Jaundice, Chronic Idiopathic db key
Additionally, several people in the Japanese population have been diagnosed with been diagnosed soon after birth. Jaundice is typically the only symptom of ICD-10-CM E80.6
Dubin-Johnson syndrome. This condition appears to be less common in other Dubin-Johnson syndrome, but some people also experience weakness, mild upper db key
countries. abdominal pain, nausea, and/or vomiting. MeSH D007566
db key
OMIM 237500
db key
Orphanet 234
db key
related-gene-list SNOMED CT 44553005
Duchenne and Becker muscular dystrophy https://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to html:p Muscular dystrophies are a group of genetic conditions characterized by xr X-linked recessive DMD https://ghr.nlm.nih.gov/gene/DMD DBMD db key 2016-11 2017-12-29
5,000 newborn males worldwide. Between 400 and 600 boys in the United States are progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types Duchenne/Becker muscular dystrophy GTR C0013264
born with these conditions each year. of muscular dystrophy are two related conditions that primarily affect skeletal muscular dystrophy, Duchenne and Becker types db key
Duchenne muscular dystrophy muscles, which are used for movement, and heart (cardiac) muscle. These forms muscular dystrophy, pseudohypertrophic GTR C0917713
杜氏肌营养不良症 of muscular dystrophy occur almost exclusively in males. db key
裘馨氏肌肉萎縮症 html:p Duchenne and Becker muscular dystrophies have similar signs and symptoms and are GeneReviews dbmd
caused by different mutations in the same gene. The two conditions differ in db key
their severity, age of onset, and rate of progression. In boys with Duchenne GeneReviews dcm-ov
muscular dystrophy, muscle weakness tends to appear in early childhood and db key
worsen rapidly. Affected children may have delayed motor skills, such as MeSH D020388
sitting, standing, and walking. They are usually wheelchair-dependent by db key
adolescence. The signs and symptoms of Becker muscular dystrophy are usually OMIM 300376
milder and more varied. In most cases, muscle weakness becomes apparent later in db key
childhood or in adolescence and worsens at a much slower rate. OMIM 310200
html:p Both the Duchenne and Becker forms of muscular dystrophy are associated with a db key
heart condition called cardiomyopathy. This form of heart disease weakens the Orphanet 262
cardiac muscle, preventing the heart from pumping blood efficiently. In both db key
Duchenne and Becker muscular dystrophy, cardiomyopathy typically begins in SNOMED CT 387732009
adolescence. Later, the heart muscle becomes enlarged, and the heart problems db key
develop into a condition known as dilated cardiomyopathy. Signs and symptoms of SNOMED CT 76670001
dilated cardiomyopathy can include an irregular heartbeat (arrhythmia),
shortness of breath, extreme tiredness (fatigue), and swelling of the legs and
feet. These heart problems worsen rapidly and become life-threatening in most
cases. Males with Duchenne muscular dystrophy typically live into their
twenties, while males with Becker muscular dystrophy can survive into their
forties or beyond.
html:p A related condition called X-linked dilated cardiomyopathy is a form of heart
disease caused by mutations in the same gene as Duchenne and Becker muscular
dystrophy, and it is sometimes classified as subclinical Becker muscular
dystrophy. People with X-linked dilated cardiomyopathy typically do not have any
skeletal muscle weakness or wasting, although they may have subtle changes in
their skeletal muscle cells that are detectable through laboratory testing.
related-gene-list
Dupuytren contracture https://ghr.nlm.nih.gov/condition/dupuytren-contracture Dupuytren contracture occurs in about 5 percent of people in the United html:p Dupuytren contracture is a deformity of the hand in which the joints of one or ad autosomal dominant C8orf34 https://ghr.nlm.nih.gov/gene/C8orf34 contraction of palmar fascia db key 2016-09 2017-12-29
迪皮特朗攣縮 States. It is common in northern Europeans; 30 percent of Norwegian men over age more fingers can become permanently bent in a flexed position. Permanently bent code memo related-gene gene-symbol ghr-page Dupuytren's contracture GTR C0013312
60 develop the disorder. Studies suggest that a genetic predisposition to joints are called contractures. The condition most often occurs in men older m mitochondrial EPDR1 https://ghr.nlm.nih.gov/gene/EPDR1 Dupuytren's disease db key
develop this disorder may have been spread through northern Europe and Britain than age 50. In women, it is four times less common, and also tends to appear code memo related-gene gene-symbol ghr-page familial palmar fibromatosis ICD-10-CM M72.0
by the Vikings. Dupuytren contracture is less common in non-European later and be less severe. However, Dupuytren contracture can occur at any time n not inherited RSPO2 https://ghr.nlm.nih.gov/gene/RSPO2 palmar fascial fibromatosis db key
populations. of life, including childhood. The disorder can make it more difficult for related-gene gene-symbol ghr-page palmar fibromas MeSH D004387
affected individuals to perform manual tasks such as preparing food, writing, or SFRP4 https://ghr.nlm.nih.gov/gene/SFRP4 db key
playing musical instruments. related-gene gene-symbol ghr-page OMIM 126900
html:p In about half of cases, Dupuytren contracture occurs in only one hand, affecting SULF1 https://ghr.nlm.nih.gov/gene/SULF1 db key
the right hand twice as often as the left. Which hand is affected does not seem related-gene gene-symbol ghr-page Orphanet 79142
to be related to whether the person is right-handed or left-handed. WNT2 https://ghr.nlm.nih.gov/gene/WNT2 db key
html:p Dupuytren contracture results from shortening and thickening of bands of fibrous related-gene gene-symbol ghr-page SNOMED CT 274142002
tissue under the skin of the palm (palmar fascia). Fascia is a type of WNT4 https://ghr.nlm.nih.gov/gene/WNT4
connective tissue, which supports the body's muscles, joints, organs, and skin related-gene gene-symbol ghr-page
and provides strength and flexibility to structures throughout the body. WNT7B https://ghr.nlm.nih.gov/gene/WNT7B
html:p In Dupuytren contracture the thickening of the fascia typically first appears as
one or more small hard nodules that can be seen and felt under the skin of the
palm. In some affected individuals the nodules remain the only sign of the
disorder, and occasionally even go away without treatment, but in most cases the
condition gradually gets worse. Over months or years, the abnormal fibrous
tissue gets shorter and thicker, developing into tight bands of tissue called
cords. These cords gradually draw the affected fingers downward so that they
curl toward the palm. As the condition gets worse, it becomes difficult or
impossible to extend the affected fingers, resulting in the contracture
associated with this disorder. The ring finger is most often involved, followed
by the little, middle, and index fingers. Occasionally the thumb is involved.
html:p Dupuytren contracture is usually not painful, but in some cases people with this
condition experience uncomfortable joint inflammation or sensations of burning
or itching. Pressure or tension may also be experienced, especially when
attempting to straighten affected joints.
html:p People with Dupuytren contracture are at increased risk of developing other
disorders in which similar connective tissue abnormalities affect other parts of
the body. These include Garrod pads, which are nodules that develop on the
knuckles; Ledderhose disease, also called plantar fibromatosis, in which
contractures affect the foot; and, in males, Peyronie disease, which causes
abnormal curvature of the penis.
related-gene-list
Dyserythropoietic anemia and thrombocytopenia https://ghr.nlm.nih.gov/condition/dyserythropoietic-anemia-and-thrombocytopenia Dyserythropoietic anemia and thrombocytopenia is a rare condition; its html:p Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood xr X-linked recessive GATA1 https://ghr.nlm.nih.gov/gene/GATA1 dyserythropoietic anemia with thrombocytopenia db key 2014-10 2017-12-29
先天性红细胞生成异常性贫血及血小板减少症 prevalence is unknown. Occasionally, individuals with this disorder are cells and primarily occurs in males. A main feature of this condition is a type GATA-1-related thrombocytopenia with dyserythropoiesis GTR C1845837
(Blood) mistakenly diagnosed as having more common blood disorders, making it even more of anemia called dyserythropoietic anemia, which is characterized by a shortage GATA1-related cytopenia db key
difficult to determine how many people have dyserythropoietic anemia and of red blood cells. The term "dyserythropoietic" refers to the abnormal red GATA1-related X-linked cytopenia GeneReviews gata1
thrombocytopenia. blood cell formation that occurs in this condition. In affected individuals, X-linked macrothrombocytopenia db key
immature red blood cells are unusually shaped and cannot develop into functional MeSH D013921
mature cells, leading to a shortage of healthy red blood cells. People with db key
dyserythropoietic anemia and thrombocytopenia can have another blood disorder OMIM 300367
characterized by a reduced level of circulating platelets (thrombocytopenia). db key
Platelets are cell fragments that normally assist with blood clotting. Orphanet 67044
Thrombocytopenia can cause easy bruising and abnormal bleeding. While people db key
with dyserythropoietic anemia and thrombocytopenia can have signs and symptoms SNOMED CT 713388002
of both blood disorders, some are primarily affected by anemia, while others are
more affected by thrombocytopenia.
html:p The most severe cases of dyserythropoietic anemia and thrombocytopenia are
characterized by hydrops fetalis, a condition in which excess fluid builds up in
the body before birth. For many others, the signs and symptoms of
dyserythropoietic anemia and thrombocytopenia begin in infancy. People with this
condition experience prolonged bleeding or bruising after minor trauma or even
in the absence of injury (spontaneous bleeding). Anemia can cause pale skin,
weakness, and fatigue. Severe anemia may create a need for frequent blood
transfusions to replenish the supply of red blood cells; however, repeated blood
transfusions over many years can cause health problems such as excess iron in
the blood. People with dyserythropoietic anemia and thrombocytopenia may also
have a shortage of white blood cells (neutropenia), which can make them prone to
recurrent infections. Additionally, they may have an enlarged spleen
(splenomegaly). The severity of these abnormalities varies among affected
individuals.
html:p Some people with dyserythropoietic anemia and thrombocytopenia have additional
blood disorders such as beta thalassemia or congenital erythropoietic porphyria.
Beta thalassemia is a condition that reduces the production of hemoglobin,
which is the iron-containing protein in red blood cells that carries oxygen. A
decrease in hemoglobin can lead to a shortage of oxygen in cells and tissues
throughout the body. Congenital erythropoietic porphyria is another disorder
that impairs hemoglobin production. People with congenital erythropoietic
porphyria are also very sensitive to sunlight, and areas of skin exposed to the
sun can become fragile and blistered.
related-gene-list
Dyskeratosis congenita https://ghr.nlm.nih.gov/condition/dyskeratosis-congenita The exact prevalence of dyskeratosis congenita is unknown. It is estimated html:p Dyskeratosis congenita is a disorder that can affect many parts of the body. ad autosomal dominant CTC1 https://ghr.nlm.nih.gov/gene/CTC1 Zinsser-Cole-Engman syndrome db key 2014-03 2017-12-29
先天性角化不全症 to occur in approximately 1 in 1 million people. There are three features that are characteristic of this disorder: fingernails code memo related-gene gene-symbol ghr-page GTR C0265965
and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes ar autosomal recessive DKC1 https://ghr.nlm.nih.gov/gene/DKC1 db key
in skin coloring (pigmentation), especially on the neck and chest, in a pattern code memo related-gene gene-symbol ghr-page GTR C1148551
often described as "lacy"; and white patches inside the mouth (oral xr X-linked recessive NHP2 https://ghr.nlm.nih.gov/gene/NHP2 db key
leukoplakia). related-gene gene-symbol ghr-page GTR C1851970
html:p People with dyskeratosis congenita have an increased risk of developing several NOP10 https://ghr.nlm.nih.gov/gene/NOP10 db key
life-threatening conditions. They are especially vulnerable to disorders that related-gene gene-symbol ghr-page GTR C1857144
impair bone marrow function. These disorders disrupt the ability of the bone RTEL1 https://ghr.nlm.nih.gov/gene/RTEL1 db key
marrow to produce new blood cells. Affected individuals may develop aplastic related-gene gene-symbol ghr-page GeneReviews dkc
anemia, also known as bone marrow failure, which occurs when the bone marrow TERC https://ghr.nlm.nih.gov/gene/TERC db key
does not produce enough new blood cells. They are also at higher than average related-gene gene-symbol ghr-page MeSH D019871
risk for myelodysplastic syndrome, a condition in which immature blood cells TERT https://ghr.nlm.nih.gov/gene/TERT db key
fail to develop normally; this condition may progress to a form of blood cancer related-gene gene-symbol ghr-page OMIM 127550
called leukemia. People with dyskeratosis congenita are also at increased risk TINF2 https://ghr.nlm.nih.gov/gene/TINF2 db key
of developing leukemia even if they never develop myelodysplastic syndrome. In related-gene gene-symbol ghr-page OMIM 224230
addition, they have a higher than average risk of developing other cancers, WRAP53 https://ghr.nlm.nih.gov/gene/WRAP53 db key
especially cancers of the head, neck, anus, or genitals. OMIM 268130
html:p People with dyskeratosis congenita may also develop pulmonary fibrosis, a db key
condition that causes scar tissue (fibrosis) to build up in the lungs, OMIM 305000
decreasing the transport of oxygen into the bloodstream. Additional signs and db key
symptoms that occur in some people with dyskeratosis congenita include eye OMIM 613987
abnormalities such as narrow tear ducts that may become blocked, preventing db key
drainage of tears and leading to eyelid irritation; dental problems; hair loss OMIM 613988
or prematurely grey hair; low bone mineral density (osteoporosis); degeneration db key
(avascular necrosis) of the hip and shoulder joints; or liver disease. Some OMIM 613989
affected males may have narrowing (stenosis) of the urethra, which is the tube db key
that carries urine out of the body from the bladder. Urethral stenosis may lead OMIM 613990
to difficult or painful urination and urinary tract infections. db key
html:p The severity of dyskeratosis congenita varies widely among affected individuals. OMIM 615190
The least severely affected individuals have only a few mild physical features db key
of the disorder and normal bone marrow function. More severely affected Orphanet 1775
individuals have many of the characteristic physical features and experience db key
bone marrow failure, cancer, or pulmonary fibrosis by early adulthood. SNOMED CT 74911008
html:p While most people with dyskeratosis congenita have normal intelligence and
development of motor skills such as standing and walking, developmental delay
may occur in some severely affected individuals. In one severe form of the
disorder called Hoyeraal Hreidaarsson syndrome, affected individuals have an
unusually small and underdeveloped cerebellum, which is the part of the brain
that coordinates movement. Another severe variant called Revesz syndrome
involves abnormalities in the light-sensitive tissue at the back of the eye
(retina) in addition to the other symptoms of dyskeratosis congenita.
related-gene-list
Dystonia 6 https://ghr.nlm.nih.gov/condition/dystonia-6 The prevalence of dystonia 6 is unknown. Studies indicate that it likely html:p Dystonia 6 is one of many forms of dystonia, which is a group of conditions ad autosomal dominant THAP1 https://ghr.nlm.nih.gov/gene/THAP1 DYT6 db key 2013-11 2017-12-29
肌張力不全症六型 accounts for between 1 and 3 percent of all cases of dystonia. For reasons that characterized by involuntary movements, twisting (torsion) and tensing of DYT6 dystonia GTR C1414216
are unclear, the disorder appears to be slightly more prevalent in females than various muscles, and unusual positioning of affected body parts. Dystonia 6 can idiopathic torsion dystonia of mixed type db key
in males. appear at any age from childhood through adulthood; the average age of onset is primary dystonia, DYT6 type GeneReviews dystonia-ov
18 THAP1 dystonia db key
html:p The signs and symptoms of dystonia 6 vary among affected individuals. The torsion dystonia 6 ICD-10-CM G24.1
disorder usually first impacts muscles of the head and neck, causing problems db key
with speaking (dysarthria) and eating (dysphagia). Eyelid twitching MeSH D020821
(blepharospasm) may also occur. Involvement of one or more limbs is common, and db key
in some cases occurs before the head and neck problems. Dystonia 6 gradually OMIM 602629
gets worse, and it may eventually involve most of the body. db key
Orphanet 98806
db key
related-gene-list SNOMED CT 702448007
Dystrophic epidermolysis bullosa https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa Considered together, the incidence of all types of dystrophic epidermolysis html:p Epidermolysis bullosa is a group of genetic conditions that cause the skin to be ad autosomal dominant COL7A1 https://ghr.nlm.nih.gov/gene/COL7A1 Epidermolysis Bullosa Dystrophica db key 2008-01 2017-12-29
表皮溶解水皰症 bullosa is estimated to be 6.5 per million newborns in the United States. The very fragile and to blister easily. Blisters and skin erosions form in response code memo Epidermolysis Bullosa, Dystrophic GTR C0079294
severe autosomal recessive forms of this disorder affect fewer than 1 per to minor injury or friction, such as rubbing or scratching. Dystrophic ar autosomal recessive db key
million newborns. epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. GTR C0079474
The signs and symptoms of this condition vary widely among affected individuals. db key
In mild cases, blistering may primarily affect the hands, feet, knees, and GTR C0432322
elbows. Severe cases of this condition involve widespread blistering that can db key
lead to vision loss, disfigurement, and other serious medical problems. GeneReviews ebd
html:p Researchers classify dystrophic epidermolysis bullosa into three major types. db key
Although the types differ in severity, their features overlap significantly and ICD-10-CM Q81.2
they are caused by mutations in the same gene. db key
html:p Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type MeSH D016108
(RDEB-HS) is the most severe, classic form of the condition. Affected infants db key
are typically born with widespread blistering and areas of missing skin, often OMIM 131750
caused by trauma during birth. Most often, blisters are present over the whole db key
body and affect mucous membranes such as the moist lining of the mouth and OMIM 226600
digestive tract. As the blisters heal, they result in severe scarring. Scarring db key
in the mouth and esophagus can make it difficult to chew and swallow food, Orphanet 303
leading to chronic malnutrition and slow growth. Additional complications of db key
progressive scarring can include fusion of the fingers and toes, loss of SNOMED CT 111389006
fingernails and toenails, joint deformities (contractures) that restrict db key
movement, and eye inflammation leading to vision loss. Additionally, young SNOMED CT 254185007
adults with the classic form of dystrophic epidermolysis bullosa have a very db key
high risk of developing a form of skin cancer called squamous cell carcinoma, SNOMED CT 254186008
which tends to be unusually aggressive and is often life-threatening. db key
html:p A second type of autosomal recessive dystrophic epidermolysis bullosa is known SNOMED CT 254188009
as the non-Hallopeau-Siemens type (non-HS RDEB). This form of the condition is db key
somewhat less severe than the classic type and includes a range of subtypes. SNOMED CT 48528004
Blistering is limited to the hands, feet, knees, and elbows in mild cases, but db key
may be widespread in more severe cases. Affected people often have malformed SNOMED CT 75875004
fingernails and toenails. Non-HS RDEB involves scarring in the areas where
blisters occur, but this form of the condition does not cause the severe
scarring characteristic of the classic type.
html:p The third major type of dystrophic epidermolysis bullosa is known as the
autosomal dominant type (DDEB). The signs and symptoms of this condition tend
to be milder than those of the autosomal recessive forms, with blistering often
limited to the hands, feet, knees, and elbows. The blisters heal with scarring,
but it is less severe. Most affected people have malformed fingernails and
toenails, and the nails may be lost over time. In the mildest cases, abnormal
nails are the only sign of the condition.
related-gene-list
Early infantile epileptic encephalopathy 1 https://ghr.nlm.nih.gov/condition/early-infantile-epileptic-encephalopathy-1 Infantile spasms are estimated to affect 1 to 1.6 in 100,000 individuals. html:p Early infantile epileptic encephalopathy 1 (EIEE1) is a seizure disorder xr X-linked recessive ARX https://ghr.nlm.nih.gov/gene/ARX early infantile epileptic encephalopathy-1 db key 2017-11 2017-12-29
早期婴幼儿癫痫性脑病 This estimate includes EIEE1 as well as infantile spasms that have other causes. characterized by a type of seizure known as infantile spasms. The spasms usually EIEE1 GTR C0037769
appear before the age of 1. Several types of spasms have been described, but epileptic encephalopathy, early infantile, 1 db key
the most commonly reported type involves bending at the waist and neck and infantile epileptic-dyskinetic encephalopathy GTR C3463992
extending the arms and legs (sometimes called a jackknife spasm). Each spasm ISSX db key
lasts only seconds, but they occur in clusters several minutes long. Although ISSX1 MeSH D038901
individuals do not usually have spasms while they are sleeping, the spasms X-linked infantile spasm syndrome db key
commonly occur just after awakening. Infantile spasms usually stop by age 5, but X-linked infantile spasm syndrome 1 OMIM 308350
many children then develop other types of seizures that recur throughout their X-linked Ohtahara syndrome db key
lives. X-linked West syndrome Orphanet 3451
html:p Most babies with EIEE1 have characteristic results on an electroencephalogram db key
(EEG), a test used to measure the electrical activity of the brain. The EEG of SNOMED CT 28055006
these individuals typically shows an irregular pattern known as hypsarrhythmia,
and this finding can help differentiate infantile spasms from other types of
seizures.
html:p Because of the recurrent seizures, babies with EIEE1 stop developing normally
and begin to lose skills they have acquired (developmental regression), such as
sitting, rolling over, and babbling. Most affected individuals also have
intellectual disability throughout their lives.
Early-onset Alzheimer's disease
早發性阿茲海默症
Early Onset Dystonia
早發型原發性肌張力不足症
related-gene-list
Early-onset glaucoma https://ghr.nlm.nih.gov/condition/early-onset-glaucoma Primary congenital glaucoma affects approximately 1 in 10,000 people. Its html:p Glaucoma is a group of eye disorders in which the optic nerves connecting the ad autosomal dominant CYP1B1 https://ghr.nlm.nih.gov/gene/CYP1B1 hereditary glaucoma db key 2009-02 2017-12-29
早發性青光眼 frequency is higher in the Middle East. Juvenile open-angle glaucoma affects eyes and the brain are progressively damaged. This damage can lead to reduction code memo related-gene gene-symbol ghr-page GTR C0020302
(Vision) about 1 in 50,000 people. Primary open-angle glaucoma is much more common after in side (peripheral) vision and eventual blindness. Other signs and symptoms may ar autosomal recessive MYOC https://ghr.nlm.nih.gov/gene/MYOC db key
the age of 40, affecting about 1 percent of the population worldwide. include bulging eyes, excessive tearing, and abnormal sensitivity to light GTR C1842028
(photophobia). The term "early-onset glaucoma" may be used when the disorder db key
appears before the age of 40. GeneReviews glc
html:p In most people with glaucoma, the damage to the optic nerves is caused by db key
increased pressure within the eyes (intraocular pressure). Intraocular pressure ICD-10-CM Q15.0
depends on a balance between fluid entering and leaving the eyes. db key
html:p Usually glaucoma develops in older adults, in whom the risk of developing the MeSH D005901
disorder may be affected by a variety of medical conditions including high blood db key
pressure (hypertension) and diabetes mellitus, as well as family history. The OMIM 137750
risk of early-onset glaucoma depends mainly on heredity. db key
html:p Structural abnormalities that impede fluid drainage in the eye may be present at OMIM 231300
birth and usually become apparent during the first year of life. Such db key
abnormalities may be part of a genetic disorder that affects many body systems, Orphanet 359
called a syndrome. If glaucoma appears before the age of 5 without other db key
associated abnormalities, it is called primary congenital glaucoma. SNOMED CT 415176004
html:p Other individuals experience early onset of primary open-angle glaucoma, the db key
most common adult form of glaucoma. If primary open-angle glaucoma develops SNOMED CT 71111008
during childhood or early adulthood, it is called juvenile open-angle glaucoma.
related-gene-list
Early-onset myopathy with fatal cardiomyopathy https://ghr.nlm.nih.gov/condition/early-onset-myopathy-with-fatal-cardiomyopathy EOMFC appears to be a rare disorder, although its prevalence is unknown. It html:p Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle ar autosomal recessive TTN https://ghr.nlm.nih.gov/gene/TTN EOMFC db key 2016-12 2017-12-29
has been reported in a small number of families of Moroccan and Sudanese disease that affects the skeletal muscles, which are used for movement, and the Salih CMD GTR C2673677
descent. heart (cardiac) muscle. This condition is characterized by skeletal muscle Salih congenital muscular dystrophy 先天性肌失養症 db key
weakness that becomes apparent in early infancy. Affected individuals have Salih myopathy GeneReviews salih-myo
delayed development of motor skills, such as sitting, standing, and walking. titinopathy & early-onset myopathy with fatal cardiomyopathy db key
Beginning later in childhood, people with EOMFC may also develop joint MeSH D009135
deformities called contractures that restrict the movement of the neck and back. db key
Scoliosis, which is an abnormal side-to-side curvature of the spine, also OMIM 611705
develops in late childhood. db key
html:p A form of heart disease called dilated cardiomyopathy is another feature of Orphanet 289377
EOMFC. Dilated cardiomyopathy enlarges and weakens the cardiac muscle, db key
preventing the heart from pumping blood efficiently. Signs and symptoms of this SNOMED CT 702343002
condition can include an irregular heartbeat (arrhythmia), shortness of breath,
extreme tiredness (fatigue), and swelling of the legs and feet. The heart
abnormalities associated with EOMFC usually become apparent in childhood, after
the skeletal muscle abnormalities. The heart disease worsens quickly, and it
often causes heart failure and sudden death in adolescence or early adulthood.
related-gene-list
Early-onset primary dystonia https://ghr.nlm.nih.gov/condition/early-onset-primary-dystonia Early-onset primary dystonia is among the most common forms of childhood html:p Early-onset primary dystonia is a condition characterized by progressive ad autosomal dominant TOR1A https://ghr.nlm.nih.gov/gene/TOR1A Dystonia musculorum deformans 1 db key 2008-05 2017-12-29
第一型肌張力不全症 dystonia. This disorder occurs most frequently in people of Ashkenazi (central problems with movement, typically beginning in childhood. Dystonia is a DYT1 GTR C1851945
and eastern European) Jewish heritage, affecting 1 in 3,000 to 9,000 people in movement disorder that involves involuntary tensing of the muscles (muscle Early-onset generalized torsion dystonia db key
this population. The condition is less common among people with other contractions), twisting of specific body parts such as an arm or a leg, rhythmic Oppenheim dystonia GeneReviews dystonia
backgrounds; it is estimated to affect 1 in 10,000 to 30,000 non-Jewish people shaking (tremors), and other uncontrolled movements. A primary dystonia is one Oppenheim's dystonia db key
worldwide. that occurs without other neurological symptoms, such as seizures or a loss of Primary torsion dystonia ICD-10-CM G24.1
intellectual function (dementia). Early-onset primary dystonia does not affect db key
a person's intelligence. MeSH D020821
html:p On average, the signs and symptoms of early-onset primary dystonia appear around db key
age 12. Abnormal muscle spasms in an arm or a leg are usually the first sign. OMIM 128100
These unusual movements initially occur while a person is doing a specific db key
action, such as writing or walking. In some affected people, dystonia later Orphanet 256
spreads to other parts of the body and may occur at rest. The abnormal db key
movements persist throughout life, but they do not usually cause pain. SNOMED CT 22451001
html:p The signs and symptoms of early-onset primary dystonia vary from person to
person, even among affected members of the same family. The mildest cases
affect only a single part of the body, causing isolated problems such as a
writer's cramp in the hand. Severe cases involve abnormal movements affecting
many regions of the body.
Ectodermal Dysplasias
外胚層增生不良症
related-gene-list
Ehlers-Danlos syndrome https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome The combined prevalence of all types of Ehlers-Danlos syndrome appears to html:p Ehlers-Danlos syndrome is a group of disorders that affect connective tissues ad autosomal dominant ADAMTS2 https://ghr.nlm.nih.gov/gene/ADAMTS2 EDS db key 2017-11 2017-12-29
先天结缔组织异常 be at least 1 in 5,000 individuals worldwide. The hypermobile and classical supporting the skin, bones, blood vessels, and many other organs and tissues. code memo related-gene gene-symbol ghr-page Ehlers Danlos disease GTR C0013720
埃勒斯-當洛二氏症候群 forms are most common; the hypermobile type may affect as many as 1 in 5,000 to Defects in connective tissues cause the signs and symptoms of these conditions, ar autosomal recessive B3GALT6 https://ghr.nlm.nih.gov/gene/B3GALT6 db key
20,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 which range from mildly loose joints to life-threatening complications. related-gene gene-symbol ghr-page GTR C0220679
people. Other forms of Ehlers-Danlos syndrome are rare, often with only a few html:p The various forms of Ehlers-Danlos syndrome have been classified in several B4GALT7 https://ghr.nlm.nih.gov/gene/B4GALT7 db key
cases or affected families described in the medical literature. different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using related-gene gene-symbol ghr-page GTR C0268335
Roman numerals to indicate the types (type I, type II, and so on). In 1997, C1R https://ghr.nlm.nih.gov/gene/C1R db key
researchers proposed a simpler classification (the Villefranche nomenclature) related-gene gene-symbol ghr-page GTR C0268337
that reduced the number of types to six and gave them descriptive names based on C1S https://ghr.nlm.nih.gov/gene/C1S db key
their major features. In 2017, the classification was updated to include rare related-gene gene-symbol ghr-page GTR C0268338
forms of Ehlers-Danlos syndrome that were discovered more recently. The 2017 CHST14 https://ghr.nlm.nih.gov/gene/CHST14 db key
classification describes 13 types of Ehlers-Danlos syndrome. related-gene gene-symbol ghr-page GTR C0268341
html:p An unusually large range of joint movement (hypermobility) occurs in most forms COL1A1 https://ghr.nlm.nih.gov/gene/COL1A1 db key
of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. related-gene gene-symbol ghr-page GTR C0268342
Infants and children with hypermobility often have weak muscle tone COL1A2 https://ghr.nlm.nih.gov/gene/COL1A2 db key
(hypotonia), which can delay the development of motor skills such as sitting, related-gene gene-symbol ghr-page GTR C0268345
standing, and walking. The loose joints are unstable and prone to dislocation COL3A1 https://ghr.nlm.nih.gov/gene/COL3A1 db key
and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants related-gene gene-symbol ghr-page GTR C0268347
have hypermobility and dislocations of both hips at birth. COL5A1 https://ghr.nlm.nih.gov/gene/COL5A1 db key
html:p Many people with the Ehlers-Danlos syndromes have soft, velvety skin that is related-gene gene-symbol ghr-page GTR C0268349
highly stretchy (elastic) and fragile. Affected individuals tend to bruise COL5A2 https://ghr.nlm.nih.gov/gene/COL5A2 db key
easily, and some types of the condition also cause abnormal scarring. People related-gene gene-symbol ghr-page GTR C1837462
with the classical form of Ehlers-Danlos syndrome experience wounds that split COL12A1 https://ghr.nlm.nih.gov/gene/COL12A1 db key
open with little bleeding and leave scars that widen over time to create related-gene gene-symbol ghr-page GTR C1851801
characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder DSE https://ghr.nlm.nih.gov/gene/DSE db key
is characterized by loose skin that sags and wrinkles, and extra (redundant) related-gene gene-symbol ghr-page GTR C1857034
folds of skin may be present. FKBP14 https://ghr.nlm.nih.gov/gene/FKBP14 db key
html:p Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser related-gene gene-symbol ghr-page GTR C1857038
extent the kyphoscoliotic, classical, and classical-like types, can cause PLOD1 https://ghr.nlm.nih.gov/gene/PLOD1 db key
unpredictable tearing (rupture) of blood vessels, leading to internal bleeding related-gene gene-symbol ghr-page GTR C1866294
and other potentially life-threatening complications. The vascular type of PRDM5 https://ghr.nlm.nih.gov/gene/PRDM5 db key
Ehlers-Danlos syndrome is also associated with an increased risk of organ related-gene gene-symbol ghr-page GTR C1869122
rupture, including tearing of the intestine and rupture of the uterus during SLC39A13 https://ghr.nlm.nih.gov/gene/SLC39A13 db key
pregnancy. related-gene gene-symbol ghr-page GTR C2700425
html:p Other types of Ehlers-Danlos syndrome have additional signs and symptoms. The TNXB https://ghr.nlm.nih.gov/gene/TNXB db key
cardiac-valvular type causes severe problems with the valves that control the related-gene gene-symbol ghr-page GTR C3281160
movement of blood through the heart. People with the kyphoscoliotic type ZNF469 https://ghr.nlm.nih.gov/gene/ZNF469 db key
experience severe curvature of the spine that worsens over time and can GTR C3809210
interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos db key
syndrome called brittle cornea syndrome is characterized by thinness of the GTR C3809845
clear covering of the eye (the cornea) and other eye abnormalities. The db key
spondylodysplastic type features short stature and skeletal abnormalities such GTR C4310681
as abnormally curved (bowed) limbs. Abnormalities of muscles, including db key
hypotonia and permanently bent joints (contractures), are among the GTR CN071419
characteristic signs of the musculocontractural and myopathic forms of db key
Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth GTR CN071423
and gums. db key
GTR CN071434
db key
GeneReviews eds
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GeneReviews eds3
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GeneReviews eds4
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GeneReviews eds6
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ICD-10-CM Q79.6
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MeSH D004535
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OMIM 130000
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OMIM 130020
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OMIM 130050
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OMIM 130060
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OMIM 130070
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OMIM 130080
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OMIM 130090
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OMIM 225310
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OMIM 225320
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OMIM 225400
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OMIM 225410
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OMIM 229200
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OMIM 305200
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OMIM 601776
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OMIM 606408
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OMIM 608763
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OMIM 614557
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OMIM 615349
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OMIM 615539
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OMIM 617174
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Orphanet 98249
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SNOMED CT 17025000
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SNOMED CT 20766005
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SNOMED CT 25606004
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SNOMED CT 30652003
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SNOMED CT 398114001
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SNOMED CT 55711009
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related-gene-list SNOMED CT 83470009
Ellis-van Creveld syndrome https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in html:p Ellis-van Creveld syndrome is an inherited disorder of bone growth that results ar autosomal recessive EVC https://ghr.nlm.nih.gov/gene/EVC chondroectodermal dysplasia db key 2012-12 2017-12-29
埃利偉氏症候群 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence in very short stature (dwarfism). People with this condition have particularly related-gene gene-symbol ghr-page Ellis-van Creveld dysplasia GTR C0013903
because the disorder is very rare in the general population. This condition is short forearms and lower legs and a narrow chest with short ribs. Ellis-van EVC2 https://ghr.nlm.nih.gov/gene/EVC2 db key
much more common in the Old Order Amish population of Lancaster County, Creveld syndrome is also characterized by the presence of extra fingers and toes ICD-10-CM Q77.6
Pennsylvania, and in the indigenous (native) population of Western Australia. (polydactyly), malformed fingernails and toenails, and dental abnormalities. db key
More than half of affected individuals are born with a heart defect, which can MeSH D004613
cause serious or life-threatening health problems. db key
html:p The features of Ellis-van Creveld syndrome overlap with those of another, milder OMIM 225500
condition called Weyers acrofacial dysostosis. Like Ellis-van Creveld syndrome, db key
Weyers acrofacial dysostosis involves tooth and nail abnormalities, although Orphanet 289
affected individuals have less pronounced short stature and typically do not db key
have heart defects. The two conditions are caused by mutations in the same SNOMED CT 62501005
genes.
related-gene-list
Emanuel syndrome https://ghr.nlm.nih.gov/condition/emanuel-syndrome Emanuel syndrome is a rare disorder; its prevalence is unknown. More than html:p Emanuel syndrome is a chromosomal disorder that disrupts normal development and ad autosomal dominant 11 https://ghr.nlm.nih.gov/chromosome/11 Der(22) syndrome due to 3:1 meiotic disjunction events db key 2017-01 2017-12-29
100 individuals with this condition have been reported. affects many parts of the body. Infants with Emanuel syndrome have weak muscle related-chromosome name ghr-page supernumerary der(22) syndrome GTR C1836929
tone (hypotonia) and fail to gain weight and grow at the expected rate (failure 22 https://ghr.nlm.nih.gov/chromosome/22 supernumerary der(22)t(11;22) syndrome db key
to thrive). Their development is significantly delayed, and most affected supernumerary derivative 22 chromosome syndrome GeneReviews emanuel
individuals have severe to profound intellectual disability. db key
html:p Other features of Emanuel syndrome include an unusually small head MeSH D025063
(microcephaly), distinctive facial features, and a small lower jaw db key
(micrognathia). Ear abnormalities are common, including small holes in the skin OMIM 609029
just in front of the ears (preauricular pits or sinuses). About half of all db key
affected infants are born with an opening in the roof of the mouth (cleft Orphanet 96170
palate) or a high arched palate. Males with Emanuel syndrome often have genital db key
abnormalities. Additional signs of this condition can include heart defects SNOMED CT 702417004
and absent or unusually small (hypoplastic) kidneys; these problems can be
life-threatening in infancy or childhood.
related-gene-list
Emery-Dreifuss muscular dystrophy https://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy The overall prevalence of Emery-Dreifuss muscular dystrophy is unknown. The html:p Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles ad autosomal dominant EMD https://ghr.nlm.nih.gov/gene/EMD benign scapuloperoneal muscular dystrophy with early contractures db key 2017-06 2017-12-29
Emery-Dreifuss肌肉失養症 X-linked type of this disorder affects an estimated 1 in 100,000 people. The used for movement (skeletal muscles) and the heart (cardiac muscle). Among the code memo related-gene gene-symbol ghr-page EDMD GTR C0410189
prevalence of the autosomal dominant type is unknown, although it appears to be earliest features of this disorder are joint deformities called contractures. ar autosomal recessive FHL1 https://ghr.nlm.nih.gov/gene/FHL1 Emery-Dreifuss syndrome db key
more common than the X-linked type. The autosomal recessive type appears to be Contractures restrict the movement of certain joints, most often the elbows, code memo related-gene gene-symbol ghr-page muscular dystrophy, Emery-Dreifuss type GeneReviews edmd
very rare; only a few cases have been reported worldwide. ankles, and neck, and usually become noticeable in early childhood. Most xr X-linked recessive LMNA https://ghr.nlm.nih.gov/gene/LMNA db key
affected individuals also experience muscle weakness and wasting that worsen related-gene gene-symbol ghr-page MeSH D020389
slowly over time, beginning in muscles of the upper arms and lower legs and SYNE1 https://ghr.nlm.nih.gov/gene/SYNE1 db key
later also affecting muscles in the shoulders and hips. related-gene gene-symbol ghr-page OMIM 181350
html:p Almost all people with Emery-Dreifuss muscular dystrophy develop heart problems SYNE2 https://ghr.nlm.nih.gov/gene/SYNE2 db key
by adulthood. In many cases, these heart problems are abnormalities of the related-gene gene-symbol ghr-page OMIM 310300
electrical signals that control the heartbeat (cardiac conduction defects) and TMEM43 https://ghr.nlm.nih.gov/gene/TMEM43 db key
abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead OMIM 612998
to a sensation of fluttering or pounding in the chest (palpitations), an db key
unusually slow heartbeat (bradycardia), fainting (syncope), heart failure, and OMIM 612999
an increased risk of sudden death. db key
html:p Researchers have identified several types of Emery-Dreifuss muscular dystrophy OMIM 614302
that are distinguished by their pattern of inheritance: X-linked, autosomal db key
dominant, and autosomal recessive. The types usually have similar signs and OMIM 616516
symptoms, although a small percentage of people with the autosomal dominant form db key
experience heart problems without any weakness or wasting of skeletal muscles. Orphanet 261
db key
Orphanet 98853
db key
Orphanet 98855
db key
Orphanet 98863
db key
related-gene-list SNOMED CT 111508004
Encephalocraniocutaneous lipomatosis https://ghr.nlm.nih.gov/condition/encephalocraniocutaneous-lipomatosis ECCL is a rare disorder. Fewer than 60 cases have been reported in the html:p Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that primarily n not inherited FGFR1 https://ghr.nlm.nih.gov/gene/FGFR1 ECCL db key 2016-11 2017-12-29
腦性肌皮膚脂肪瘤 medical literature. affects the brain, eyes, and skin of the head and face. Most of this condition's Fishman syndrome (formerly) GTR C0406612
signs and symptoms are present from birth, and they vary widely among affected Haberland syndrome (formerly) db key
individuals. MeSH D005128
html:p A hallmark feature of ECCL is a noncancerous tumor under the scalp covered by a db key
smooth, hairless patch of skin. This type of tumor, called a nevus psiloliparus, MeSH D008068
is made up of fatty tissue. Some people with ECCL also have noncancerous tumors db key
under the skin elsewhere on the head or face. Many have small flaps of skin MeSH D020752
called skin tags on the eyelids and around the eyes. Hair loss (alopecia), thin db key
or missing patches of skin on the scalp (dermal hypoplasia or aplasia), and OMIM 613001
changes in skin coloring (pigmentation) are also possible. db key
html:p The most common eye abnormality in ECCL is a noncancerous growth called a Orphanet 2396
choristoma. These growths can be present in one or both eyes and may affect db key
vision. SNOMED CT 238905009
html:p About two-thirds of people with ECCL have noncancerous fatty tumors inside the
brain or around the spinal cord. These tumors are called intracranial lipomas
and intraspinal lipomas, respectively. Affected individuals also have an
increased risk of developing a type of brain cancer called a glioma. The brain
and spinal cord abnormalities associated with ECCL can cause seizures, abnormal
tensing of the muscles, and intellectual disability ranging from mild to
profound. However, about one-third of affected individuals have normal
intelligence.
html:p Other kinds of growths may also occur in people with ECCL, including
noncancerous jaw tumors.
related-gene-list
Enlarged parietal foramina https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina The prevalence of enlarged parietal foramina is estimated to be 1 in 15,000 html:p Enlarged parietal foramina is an inherited condition of impaired skull ad autosomal dominant ALX4 https://ghr.nlm.nih.gov/gene/ALX4 Catlin marks db key 2016-03 2017-12-29
to 50,000 individuals. development. It is characterized by enlarged openings (foramina) in the parietal related-gene gene-symbol ghr-page cranium bifidum GTR C1865044
bones, which are the two bones that form the top and sides of the skull. This MSX2 https://ghr.nlm.nih.gov/gene/MSX2 cranium bifidum occultum db key
condition is due to incomplete bone formation (ossification) within the parietal fenestrae parietals symmetricae GTR C1868598
bones. The openings are symmetrical and circular in shape, ranging in size from foramina parietalia permagna db key
a few millimeters to several centimeters wide. Parietal foramina are a normal FPP GTR C1868599
feature of fetal development, but typically they close before the baby is born, giant parietal foramina db key
usually by the fifth month of pregnancy. However, in people with this condition, hereditary cranium bifidum GeneReviews msx2
the parietal foramina remain open throughout life. parietal foramina db key
html:p The enlarged parietal foramina are soft to the touch due to the lack of bone at PFM MeSH D004413
those areas of the skull. People with enlarged parietal foramina usually do not symmetric parietal foramina db key
have any related health problems; however, scalp defects, seizures, and OMIM 168500
structural brain abnormalities have been noted in a small percentage of affected db key
people. Pressure applied to the openings can lead to severe headaches, and OMIM 609597
individuals with this condition have an increased risk of brain damage or skull db key
fractures if any trauma is experienced in the area of the openings. Orphanet 60015
html:p There are two forms of enlarged parietal foramina, called type 1 and type 2, db key
which differ in their genetic cause. SNOMED CT 718099006
related-gene-list
Eosinophil peroxidase deficiency https://ghr.nlm.nih.gov/condition/eosinophil-peroxidase-deficiency Approximately 100 individuals with eosinophil peroxidase deficiency have html:p Eosinophil peroxidase deficiency is a condition that affects certain white blood ar autosomal recessive EPX https://ghr.nlm.nih.gov/gene/EPX EPXD db key 2014-12 2017-12-29
嗜酸性粒細胞過氧化物酶缺乏症 been described in the scientific literature. Based on blood test data, varying cells called eosinophils but causes no health problems in affected individuals. peroxidase and phospholipid deficiency in eosinophils GTR C1850000
estimates of the prevalence of the condition have been reported in specific Eosinophils aid in the body's immune response. During a normal immune response, Presentey anomaly db key
populations. Eosinophil peroxidase deficiency is estimated to occur in 8.6 in these cells are turned on (activated), and they travel to the area of injury or MeSH D007960
1,000 Yemenite Jews, in 3 in 1,000 North-African Jews, and in 1 in 1,000 Iraqi inflammation. The cells then release proteins and other compounds that have a db key
Jews. In northeastern Italy, the condition occurs in approximately 1 in 14,000 toxic effect on severely damaged cells or invading organisms. One of these OMIM 261500
individuals; in Japan it occurs in 1 in 36,000 people; and in Luxembourg, proteins is called eosinophil peroxidase. In eosinophil peroxidase deficiency, db key
eosinophil peroxidase deficiency is thought to occur in 1 in 100,000 people. eosinophils have little or no eosinophil peroxidase. A lack of this protein does SNOMED CT 711160007
not seem to affect the eosinophils' ability to carry out an immune response.
html:p Because eosinophil peroxidase deficiency does not cause any health problems,
this condition is often diagnosed when blood tests are done for other reasons or
when a family member has been diagnosed with the condition.
related-gene-list
Epidermal nevus https://ghr.nlm.nih.gov/condition/epidermal-nevus Epidermal nevi are estimated to occur in 1 to 3 in 1,000 people. html:p An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of n not inherited FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 epidermal naevus db key 2016-08 2017-12-29
表皮痣 skin caused by an overgrowth of cells in the outermost layer of skin related-gene gene-symbol ghr-page GTR C0334082
(epidermis). Epidermal nevi are typically seen at birth or develop in early FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 db key
childhood. Affected individuals have one or more nevi that vary in size. related-gene gene-symbol ghr-page MeSH D009506
html:p There are several types of epidermal nevus that are defined in part by the type HRAS https://ghr.nlm.nih.gov/gene/HRAS db key
of epidermal cell involved. The epidermis is composed primarily of a specific related-gene gene-symbol ghr-page OMIM 162900
cell type called a keratinocyte. One group of epidermal nevi, called KRAS https://ghr.nlm.nih.gov/gene/KRAS db key
keratinocytic or nonorganoid epidermal nevi, includes nevi that involve only related-gene gene-symbol ghr-page Orphanet 35125
keratinocytes. Keratinocytic epidermal nevi are typically found on the torso or NRAS https://ghr.nlm.nih.gov/gene/NRAS db key
limbs. They can be flat, tan or brown patches of skin or raised, velvety related-gene gene-symbol ghr-page SNOMED CT 239107007
patches. As affected individuals age, the nevi can become thicker and darker and PIK3CA https://ghr.nlm.nih.gov/gene/PIK3CA
develop a wart-like (verrucous) appearance. Often, keratinocytic epidermal nevi
follow a pattern on the skin known as the lines of Blaschko. The lines of
Blaschko, which are normally invisible on skin, are thought to follow the paths
along which cells migrate as the skin develops before birth. Keratinocytic
epidermal nevi are also known as linear epidermal nevi or verrucous epidermal
nevi, based on characteristics of their appearance.
html:p Other types of epidermal nevi involve additional types of epidermal cells, such
as the cells that make up the hair follicles, the sweat glands, or the sebaceous
glands (glands in the skin that produce a substance that protects the skin and
hair). These nevi comprise a group called organoid epidermal nevi. A common type
of organoid epidermal nevus is called nevus sebaceous. Nevi in this group are
waxy, yellow-orange patches of skin, usually on the scalp or face. The patch is
typically hairless, leaving a distinct region of baldness (alopecia). Similar to
keratinocytic epidermal nevi, nevi sebaceous can become thicker and more
verrucous over time. In about one-quarter of people with a nevus sebaceous, a
tumor forms in the same region as the nevus. The tumor is usually benign,
although rarely cancerous (malignant) tumors develop.
html:p Some affected individuals have only an epidermal nevus and no other
abnormalities. However, sometimes people with an epidermal nevus also have
problems in other body systems, such as the brain, eyes, or bones. In these
cases, the affected individual has a condition called an epidermal nevus
syndrome. There are several different epidermal nevus syndromes characterized by
the type of epidermal nevus involved.
related-gene-list
Epidermolysis bullosa simplex https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex The exact prevalence of epidermolysis bullosa simplex is unknown, but this html:p Epidermolysis bullosa simplex is one of a group of genetic conditions called ad autosomal dominant KRT5 https://ghr.nlm.nih.gov/gene/KRT5 EBS db key 2013-05 2017-12-29
表皮分解性水皰症 (泡泡龍) condition is estimated to affect 1 in 30,000 to 50,000 people. The localized epidermolysis bullosa that cause the skin to be very fragile and to blister code memo related-gene gene-symbol ghr-page GTR C0079295
type is the most common form of the condition. easily. Blisters and areas of skin loss (erosions) occur in response to minor ar autosomal recessive KRT14 https://ghr.nlm.nih.gov/gene/KRT14 db key
injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex related-gene gene-symbol ghr-page GTR C0079298
is one of the major forms of epidermolysis bullosa. The signs and symptoms of PLEC https://ghr.nlm.nih.gov/gene/PLEC db key
this condition vary widely among affected individuals. Blistering primarily GTR C0079299
affects the hands and feet in mild cases, and the blisters usually heal without db key
leaving scars. Severe cases of this condition involve widespread blistering that GTR C0080333
can lead to infections, dehydration, and other medical problems. Severe cases db key
may be life-threatening in infancy. GTR C0432316
html:p Researchers have identified four major types of epidermolysis bullosa simplex. db key
Although the types differ in severity, their features overlap significantly, and GTR C0432317
they are caused by mutations in the same genes. Most researchers now consider db key
the major forms of this condition to be part of a single disorder with a range GTR C1832926
of signs and symptoms. db key
html:p The mildest form of epidermolysis bullosa simplex, known as the localized type GeneReviews ebs
(formerly called the Weber-Cockayne type), is characterized by skin blistering db key
that begins anytime between childhood and adulthood and is usually limited to ICD-10-CM Q81.0
the hands and feet. Later in life, skin on the palms of the hands and soles of db key
the feet may thicken and harden (hyperkeratosis). MeSH D016110
html:p The Dowling-Meara type is the most severe form of epidermolysis bullosa simplex. db key
Extensive, severe blistering can occur anywhere on the body, including the OMIM 131760
inside of the mouth, and blisters may appear in clusters. Blistering is present db key
from birth and tends to improve with age. Affected individuals also experience OMIM 131800
abnormal nail growth and hyperkeratosis of the palms and soles. db key
html:p Another form of epidermolysis bullosa simplex, known as the other generalized OMIM 131900
type (formerly called the Koebner type), is associated with widespread blisters db key
that appear at birth or in early infancy. The blistering tends to be less severe OMIM 131950
than in the Dowling-Meara type. db key
html:p Epidermolysis bullosa simplex with mottled pigmentation is characterized by OMIM 131960
patches of darker skin on the trunk, arms, and legs that fade in adulthood. This db key
form of the disorder also involves skin blistering from early infancy, OMIM 601001
hyperkeratosis of the palms and soles, and abnormal nail growth. db key
html:p In addition to the four major types described above, researchers have identified OMIM 609352
another skin condition related to epidermolysis bullosa simplex, which they db key
call the Ogna type. It is caused by mutations in a gene that is not associated Orphanet 304
with the other types of epidermolysis bullosa simplex. It is unclear whether db key
the Ogna type is a subtype of epidermolysis bullosa simplex or represents a SNOMED CT 254180002
separate form of epidermolysis bullosa. db key
html:p Several other variants of epidermolysis bullosa simplex have been proposed, but SNOMED CT 398071000
they appear to be very rare. db key
SNOMED CT 67144006
db key
related-gene-list SNOMED CT 90496008
Epidermolysis bullosa with pyloric atresia https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-with-pyloric-atresia EB-PA appears to be a rare condition, although its prevalence is unknown. html:p Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects ar autosomal recessive ITGA6 https://ghr.nlm.nih.gov/gene/ITGA6 Carmi syndrome db key 2009-09 2017-12-29
At least 50 affected individuals have been reported worldwide. the skin and digestive tract. This condition is one of several forms of related-gene gene-symbol ghr-page EB-PA GTR C1856934
epidermolysis bullosa, a group of genetic conditions that cause the skin to be ITGB4 https://ghr.nlm.nih.gov/gene/ITGB4 junctional epidermolysis bullosa with pyloric atresia db key
fragile and to blister easily. Affected infants are often born with widespread related-gene gene-symbol ghr-page PA-JEB GTR C2677349
blistering and areas of missing skin. Blisters continue to appear in response to PLEC https://ghr.nlm.nih.gov/gene/PLEC db key
minor injury or friction, such as rubbing or scratching. Most often, blisters GeneReviews eb-pa
occur over the whole body and affect mucous membranes such as the moist lining db key
of the mouth and digestive tract. ICD-10-CM Q81.0
html:p People with EB-PA are also born with pyloric atresia, which is an obstruction of db key
the lower part of the stomach (the pylorus). This obstruction prevents food MeSH D004820
from emptying out of the stomach into the intestine. Signs of pyloric atresia db key
include vomiting, a swollen (distended) abdomen, and an absence of stool. OMIM 226730
Pyloric atresia is life-threatening and must be repaired with surgery soon after db key
birth. OMIM 612138
html:p Other complications of EB-PA can include fusion of the skin between the fingers db key
and toes, abnormalities of the fingernails and toenails, joint deformities Orphanet 158684
(contractures) that restrict movement, and hair loss (alopecia). Some affected db key
individuals are also born with malformations of the urinary tract, including the Orphanet 79403
kidneys and bladder. db key
html:p Because the signs and symptoms of EB-PA are so severe, many infants with this SNOMED CT 53748002
condition do not survive beyond the first year of life. In those who survive,
the condition may improve with time; some affected individuals have little or no
blistering later in life. However, many affected individuals who live past
infancy experience severe medical problems, including blistering and the
formation of red, bumpy patches called granulation tissue. Granulation tissue
most often forms on the skin around the mouth, nose, fingers, and toes. It can
also build up in the airway, leading to difficulty breathing.
related-gene-list
Epidermolytic hyperkeratosis https://ghr.nlm.nih.gov/condition/epidermolytic-hyperkeratosis Epidermolytic hyperkeratosis affects approximately 1 in 200,000 to 300,000 html:p Epidermolytic hyperkeratosis is a skin disorder that is present at birth. ad autosomal dominant KRT1 https://ghr.nlm.nih.gov/gene/KRT1 BCIE db key 2011-11 2017-12-29
Bullous congenital ichthyosiform erythroderma people worldwide. Affected babies may have very red skin (erythroderma) and severe blisters. code memo related-gene gene-symbol ghr-page BIE GTR C0079153
水泡型先天性魚鱗癬樣紅皮症 Because newborns with this disorder are missing the protection provided by ar autosomal recessive KRT10 https://ghr.nlm.nih.gov/gene/KRT10 bullous congenital ichthyosiform erythroderma db key
normal skin, they are at risk of becoming dehydrated and developing infections bullous erythroderma ichthyosiforme ICD-10-CM Q80.3
in the skin or throughout the body (sepsis). bullous erythroderma ichthyosiformis congenita of Brocq db key
html:p As affected individuals get older, blistering is less frequent, erythroderma bullous ichthyosiform erythroderma MeSH D017488
becomes less evident, and the skin becomes thick (hyperkeratotic), especially EHK db key
over joints, on areas of skin that come into contact with each other, or on the epidermolytic ichthyosis OMIM 113800
scalp or neck. This thickened skin is usually darker than normal. Bacteria can hyperkeratosis, epidermolytic db key
grow in the thick skin, often causing a distinct odor. SNOMED CT 254167000
html:p Epidermolytic hyperkeratosis can be categorized into two types. People with
PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands
and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition
to other areas of the body. People with the other type, NPS-type, do not have
extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas
of the body.
html:p Epidermolytic hyperkeratosis is part of a group of conditions called ichthyoses,
which refers to the scaly skin seen in individuals with related disorders.
However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in
some of the other conditions in the group.
related-gene-list
Epilepsy-aphasia spectrum https://ghr.nlm.nih.gov/condition/epilepsy-aphasia-spectrum The prevalence of the epilepsy-aphasia spectrum is unknown. Most of the html:p The epilepsy-aphasia spectrum is a group of conditions that have overlapping ad autosomal dominant GRIN2A https://ghr.nlm.nih.gov/gene/GRIN2A acquired aphasia with epilepsy db key 2016-11 2017-12-29
癲癇失語症候群 conditions in the spectrum are rare; however, CECTS is one of the most common signs and symptoms. A key feature of these conditions is impairment of language FESD GTR CN181337
forms of epilepsy in children, accounting for 8 to 25 percent of cases. It is skills (aphasia). The language problems can affect speaking, reading, and focal epilepsies with speech and language disorders db key
estimated to occur in 1 in 5,000 children younger than 16. writing. Another feature of epilepsy-aphasia spectrum disorders is certain focal epilepsy with speech disorder and with or without mental retardation MeSH D004827
patterns of abnormal electrical activity in the brain, which are detected by a db key
test called an electroencephalogram (EEG). Many people with conditions in this MeSH D007805
spectrum develop recurrent seizures (epilepsy), and some have mild to severe db key
intellectual disability. The conditions in the epilepsy-aphasia spectrum, which MeSH D013064
all begin in childhood, include Landau-Kleffner syndrome (LKS), epileptic db key
encephalopathy with continuous spike-and-wave during sleep syndrome (ECSWS), MeSH D018887
autosomal dominant rolandic epilepsy with speech dyspraxia (ADRESD), db key
intermediate epilepsy-aphasia disorder (IEAD), atypical childhood epilepsy with MeSH D019305
centrotemporal spikes (ACECTS), and childhood epilepsy with centrotemporal db key
spikes (CECTS). OMIM 245570
html:p LKS and ECSWS are at the severe end of the spectrum. Both usually feature a db key
characteristic abnormal pattern of electrical activity in the brain called Orphanet 725
continuous spike and waves during slow-wave sleep (CSWS). This pattern occurs db key
while the affected child is sleeping, specifically during deep (slow-wave) Orphanet 1945
sleep. db key
html:p Most children with LKS develop normally in early childhood, although some speak Orphanet 98818
later than their peers. However, affected children lose language skills db key
beginning around age 5. This loss typically begins with verbal agnosia, which is SNOMED CT 230384001
the inability to understand speech. As LKS develops, the ability to express db key
speech is also impaired. Approximately 70 percent of children with LKS have SNOMED CT 230438007
seizures, typically of a type described as focal (or partial) because the db key
seizure activity occurs in specific regions of the brain rather than affecting SNOMED CT 230439004
the entire brain. db key
html:p About half of children with ECSWS develop normally in early childhood, while SNOMED CT 44145005
others have delayed development of speech and motor skills. Although children
with ECSWS typically lose a range of previously acquired skills, including those
involved in language, movement, learning, or behavior, not everyone with ECSWS
has aphasia. Seizures occur in approximately 80 percent of children with ECSWS
and can include a variety of types, such as atypical absence seizures, which
involve short periods of staring blankly; hemiclonic seizures, which cause
rhythmic jerking of one side of the body; or generalized tonic-clonic seizures,
which cause stiffening and rhythmic jerking of the entire body.
html:p CECTS is at the mild end of the epilepsy-aphasia spectrum. Affected children
have rolandic seizures; these seizures are triggered by abnormal activity in an
area of the brain called the rolandic region, which is part of the cerebrum. The
seizures, which usually occur during sleep, cause twitching, numbness, or
tingling of the face or tongue, often causing drooling and impairing speech. In
most people with CECTS, the seizures disappear by the end of adolescence. Most
affected individuals develop normally, although some have difficulty
coordinating the movements of the mouth and tongue needed for clear speech
(dyspraxia) or impairment of language skills.
html:p The other conditions in the epilepsy-aphasia spectrum are less common and fall
in the middle of the spectrum. Children with IEAD usually have delayed
development or regression of language skills. Some have seizures and most have
abnormal electrical activity in their brains during sleep, although it is not
prominent enough to be classified as CSWS. ACECTS features seizures and
developmental regression that can affect movement, language, and attention.
Children with ACECTS have abnormal electrical activity in the brain that is
sometimes classified as CSWS. ADRESD is characterized by focal seizures, speech
difficulties due to dyspraxia, and learning disability.
related-gene-list
Episodic ataxia https://ghr.nlm.nih.gov/condition/episodic-ataxia Episodic ataxia is uncommon, affecting less than 1 in 100,000 people. Only html:p Episodic ataxia is a group of related conditions that affect the nervous system ad autosomal dominant CACNA1A https://ghr.nlm.nih.gov/gene/CACNA1A EA db key 2008-08 2017-12-29
陣發性不協調 types 1 and 2 have been identified in more than one family, and type 2 is by and cause problems with movement. People with episodic ataxia have recurrent related-gene gene-symbol ghr-page GTR C1719788
far the most common form of the condition. episodes of poor coordination and balance (ataxia). During these episodes, many CACNB4 https://ghr.nlm.nih.gov/gene/CACNB4 db key
people also experience dizziness (vertigo), nausea and vomiting, migraine related-gene gene-symbol ghr-page GTR C1720416
headaches, blurred or double vision, slurred speech, and ringing in the ears KCNA1 https://ghr.nlm.nih.gov/gene/KCNA1 db key
(tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the related-gene gene-symbol ghr-page GTR C1847839
body (hemiplegia) may also occur during attacks. Additionally, some affected SLC1A3 https://ghr.nlm.nih.gov/gene/SLC1A3 db key
individuals have a muscle abnormality called myokymia during or between GTR C1847843
episodes. This abnormality can cause muscle cramping, stiffness, and db key
continuous, fine muscle twitching that appears as rippling under the skin. GTR C2677843
html:p Episodes of ataxia and other symptoms can begin anytime from early childhood to db key
adulthood. They can be triggered by environmental factors such as emotional GeneReviews ea1
stress, caffeine, alcohol, certain medications, physical activity, and illness. db key
The frequency of attacks ranges from several per day to one or two per year. GeneReviews ea2
Between episodes, some affected individuals continue to experience ataxia, which db key
may worsen over time, as well as involuntary eye movements called nystagmus. MeSH D001259
html:p Researchers have identified at least seven types of episodic ataxia, designated db key
type 1 through type 7. The types are distinguished by their pattern of signs OMIM 108500
and symptoms, age of onset, length of attacks, and, when known, genetic cause. db key
OMIM 160120
db key
OMIM 600111
db key
OMIM 601949
db key
OMIM 606552
db key
OMIM 606554
db key
OMIM 611907
db key
Orphanet 79135
db key
Orphanet 79136
db key
SNOMED CT 420932006
db key
SNOMED CT 421182009
db key
related-gene-list SNOMED CT 421455009
Erdheim-Chester disease https://ghr.nlm.nih.gov/condition/erdheim-chester-disease Erdheim-Chester disease is a rare disorder; its exact prevalence is html:p Erdheim-Chester disease is a rare type of slow-growing blood cancer called a n not inherited BRAF https://ghr.nlm.nih.gov/gene/BRAF lipid granulomatosis db key 2017-04 2017-12-29
Erdheim-Chester 病 unknown. More than 500 affected individuals worldwide have been described in the histiocytic neoplasm, which results in overproduction of cells called polyostotic sclerosing histiocytosis MeSH D031249
medical literature. For unknown reasons, men are slightly more likely to histiocytes. Histiocytes normally function to destroy foreign substances and db key
develop the disease, accounting for about 60 percent of cases. protect the body from infection. In Erdheim-Chester disease, the excess Orphanet 35687
production of histiocytes (histiocytosis) leads to inflammation that can damage db key
organs and tissues throughout the body, causing them to become thickened, dense, SNOMED CT 703711007
and scarred (fibrotic); this tissue damage may lead to organ failure.
html:p People with Erdheim-Chester disease often have bone pain, especially in the
lower legs and upper arms, due to an abnormal increase in bone density
(osteosclerosis). Damage to the pituitary gland (a structure at the base of the
brain that produces several hormones, including a hormone that controls the
amount of water released in the urine) may result in hormonal problems such as a
condition called diabetes insipidus that leads to excessive urination.
Abnormally high pressure of the cerebrospinal fluid within the skull
(intracranial hypertension) caused by accumulation of histiocytes in the brain
may result in headaches, seizures, cognitive impairment, or problems with
movement or sensation. People with this condition can also have shortness of
breath, heart or kidney disease, protruding eyes (exophthalmos), skin growths,
or inability to conceive a child (infertility). Affected individuals may also
experience fever, night sweats, fatigue, weakness, and weight loss.
html:p The signs and symptoms of Erdheim-Chester disease usually appear between the
ages of 40 and 60, although the disorder can occur at any age. The severity of
the condition varies widely; some affected individuals have few or no associated
health problems, while others have severe complications that can be
life-threatening.
related-gene-list
Erythrokeratodermia variabilis et progressiva https://ghr.nlm.nih.gov/condition/erythrokeratodermia-variabilis-et-progressiva EKVP is a rare disorder; its prevalence is unknown. html:p Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is ad autosomal dominant GJB3 https://ghr.nlm.nih.gov/gene/GJB3 EKV db key 2014-01 2017-12-29
进行性可变性红斑皮肤角化症 present at birth or becomes apparent in infancy. Although its signs and symptoms code memo related-gene gene-symbol ghr-page EKV-P GTR C0265961
vary, the condition is characterized by two major features. The first is areas ar autosomal recessive GJB4 https://ghr.nlm.nih.gov/gene/GJB4 EKVP db key
of hyperkeratosis, which is rough, thickened skin. These thickened patches are erythrokeratodermia variabilis MeSH D056266
usually reddish-brown and can either be widespread over many parts of the body erythrokeratodermia variabilis of Mendes da Costa db key
or occur only in a small area. They tend to be fixed, meaning they do not spread erythrokeratodermia, progressive symmetric OMIM 133200
or go away. However, the patches can vary in size and shape, and in some progressive symmetrical erythrokeratoderma of Gottron db key
affected people they get larger over time. The areas of thickened skin are OMIM 617524
generally symmetric, which means they occur in the same places on the right and db key
left sides of the body. OMIM 617525
html:p The second major feature of EKVP is patches of reddened skin called erythematous db key
areas. Unlike the hyperkeratosis that occurs in this disorder, the erythematous OMIM 617526
areas are usually transient, which means they come and go. They vary in size, db key
shape, and location, and can occur anywhere on the body. The redness can be OMIM 617756
triggered by sudden changes in temperature, emotional stress, or trauma or db key
irritation to the area. It usually fades within hours to days. Orphanet 316
db key
Orphanet 317
db key
related-gene-list SNOMED CT 70041004
Erythromelalgia https://ghr.nlm.nih.gov/condition/erythromelalgia The prevalence of erythromelalgia is unknown. html:p Erythromelalgia is a condition characterized by episodes of pain, redness, and ad autosomal dominant SCN9A https://ghr.nlm.nih.gov/gene/SCN9A erythermalgia db key 2016-02 2017-12-29
红斑性肢痛病 swelling in various parts of the body, particularly the hands and feet. These familial erythromelalgia GTR C0014805
episodes are usually triggered by increased body temperature, which may be primary erythromelalgia db key
caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may GeneReviews etha
also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a db key
pain episode so debilitating that it can impede everyday activities such as ICD-10-CM I73.81
wearing shoes and walking. Pain episodes can prevent an affected person from db key
going to school or work regularly. MeSH D004916
html:p The signs and symptoms of erythromelalgia typically begin in childhood, although db key
mildly affected individuals may have their first pain episode later in life. As OMIM 133020
individuals with erythromelalgia get older and the disease progresses, the db key
hands and feet may be constantly red, and the affected areas can extend from the Orphanet 1956
hands to the arms, shoulders, and face, and from the feet to the entire legs. db key
html:p Erythromelalgia is often considered a form of peripheral neuropathy because it SNOMED CT 37151006
affects the peripheral nervous system, which connects the brain and spinal cord db key
to muscles and to cells that detect sensations such as touch, smell, and pain. SNOMED CT 403390002
synonym-list db-key-list
Esophageal atresia/tracheoesophageal fistula https://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula EA/TEF occurs in 1 in 3,000 to 5,000 newborns. html:p Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting n not inherited key 2017-12-29
食道闭锁/氣管食道廔管 from abnormal development before birth of the tube that carries food from the db-key C1861028
mouth to the stomach (the esophagus). During early development, the esophagus key
and windpipe (trachea) begin as a single tube that normally divides into the two db-key tef-ov
adjacent passages between four and eight weeks after conception. If this key
separation does not occur properly, EA/TEF is the result. db-key Q39.0
html:p In esophageal atresia (EA), the upper esophagus does not connect (atresia) to key
the lower esophagus and stomach. Almost 90 percent of babies born with db-key Q39.1
esophageal atresia also have a tracheoesophageal fistula (TEF), in which the key
esophagus and the trachea are abnormally connected, allowing fluids from the db-key D004933
esophagus to get into the airways and interfere with breathing. A small number key
of infants have only one of these abnormalities. db-key 189960
html:p There are several types of EA/TEF, classified by the location of the key
malformation and the structures that are affected. In more than 80 percent of db-key 1199
cases, the lower section of the malformed esophagus is connected to the trachea key
(EA with a distal TEF). Other possible configurations include having the upper 26179002
section of the malformed esophagus connected to the trachea (EA with a proximal
TEF), connections to the trachea from both the upper and lower sections of the
malformed esophagus (EA with proximal and distal TEF), an esophagus that is
malformed but does not connect to the trachea (isolated EA), and a connection to
the trachea from an otherwise normal esophagus (H-type TEF with no EA).
html:p While EA/TEF arises during fetal development, it generally becomes apparent
shortly after birth. Saliva, liquids fed to the infant, or digestive fluids may
enter the windpipe through the tracheoesophageal fistula, leading to coughing,
respiratory distress, and a bluish appearance of the skin or lips (cyanosis).
Esophageal atresia blocks liquids fed to the infant from entering the stomach,
so they are spit back up, sometimes along with fluids from the respiratory
tract. EA/TEF is a life-threatening condition; affected babies generally require
surgery to correct the malformation in order to allow feeding and prevent lung
damage from repeated exposure to esophageal fluids.
html:p EA/TEF occurs alone (isolated EA/TEF) in about 40 percent of affected
individuals. In other cases it occurs with other birth defects or as part of a
genetic syndrome (non-isolated or syndromic EA/TEF).
related-gene-list
Essential pentosuria https://ghr.nlm.nih.gov/condition/essential-pentosuria Essential pentosuria occurs almost exclusively in individuals with html:p Essential pentosuria is a condition characterized by high levels of a sugar ar autosomal recessive DCXR https://ghr.nlm.nih.gov/gene/DCXR essential benign pentosuria db key 2015-01 2017-12-29
必需的戊糖尿症 Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population called L-xylulose in urine. The condition is so named because L-xylulose is a L-xylulose reductase deficiency GTR C0268162
are affected. type of sugar called a pentose. Despite the excess sugar, affected individuals L-xylulosuria db key
have no associated health problems. pentosuria MeSH D002239
xylitol dehydrogenase deficiency db key
OMIM 260800
db key
Orphanet 2843
db key
related-gene-list SNOMED CT 190764000
Essential thrombocythemia https://ghr.nlm.nih.gov/condition/essential-thrombocythemia Essential thrombocythemia affects an estimated 1 to 24 per 1 million people html:p Essential thrombocythemia is a condition characterized by an increased number of ad autosomal dominant CALR https://ghr.nlm.nih.gov/gene/CALR essential thrombocytosis db key 2014-09 2017-12-29
原發性血小板過多症 worldwide. platelets (thrombocythemia). Platelets (thrombocytes) are blood cell fragments related-gene gene-symbol ghr-page primary thrombocythemia GTR C0040028
(Blood) involved in blood clotting. While some people with this condition have no JAK2 https://ghr.nlm.nih.gov/gene/JAK2 primary thrombocytosis db key
symptoms, others develop problems associated with the excess platelets. related-gene gene-symbol ghr-page ICD-10-CM D47.3
html:p Abnormal blood clotting (thrombosis) is common in people with essential MPL https://ghr.nlm.nih.gov/gene/MPL db key
thrombocythemia and causes many signs and symptoms of this condition. Clots that related-gene gene-symbol ghr-page MeSH D013920
block blood flow to the brain can cause strokes or temporary stroke-like TET2 https://ghr.nlm.nih.gov/gene/TET2 db key
episodes known as transient ischemic attacks. Thrombosis in the legs can cause related-gene gene-symbol ghr-page OMIM 187950
leg pain, swelling, or both. In addition, clots can travel to the lungs THPO https://ghr.nlm.nih.gov/gene/THPO db key
(pulmonary embolism), blocking blood flow in the lungs and causing chest pain SNOMED CT 109994006
and difficulty breathing (dyspnea). db key
html:p Another problem in essential thrombocythemia is abnormal bleeding, which occurs SNOMED CT 128844009
more often in people with a very high number of platelets. Affected people may
have nosebleeds, bleeding gums, or bleeding in the gastrointestinal tract. It is
thought that bleeding occurs because a specific protein in the blood that helps
with clotting is reduced, although why the protein is reduced is unclear.
html:p Other signs and symptoms of essential thrombocythemia include an enlarged spleen
(splenomegaly); weakness; headaches; or a sensation in the skin of burning,
tingling, or prickling. Some people with essential thrombocythemia have episodes
of severe pain, redness, and swelling (erythromelalgia), which commonly occur
in the hands and feet.
synonym-list db-key-list
Essential tremor https://ghr.nlm.nih.gov/condition/essential-tremor Essential tremor is a common disorder, affecting up to 10 million people in html:p Essential tremor is a movement disorder that causes involuntary, rhythmic ad autosomal dominant synonym familial tremor key 2017-12-29
原發性顫抖症 the United States. Estimates of its prevalence vary widely because several shaking (tremor), especially in the hands. It is distinguished from tremor that code memo synonym hereditary essential tremor db-key C1860861
other disorders, as well as other factors such as certain medications, can results from other disorders or known causes, such as Parkinson disease or head u pattern unknown key
result in similar tremors. In addition, mild cases are often not brought to trauma. Essential tremor usually occurs alone, without other neurological signs db-key G25.0
medical attention, or may not be detected in clinical exams that do not include or symptoms. However, some experts think that essential tremor can include key
the particular circumstances in which an individual's tremor occurs. Severe additional features, such as mild balance problems. db-key D020329
cases are often misdiagnosed as Parkinson disease. html:p Essential tremor usually occurs with movements and can occur during many key
different types of activities, such as eating, drinking, or writing. Essential db-key 190300
tremor can also occur when the muscles are opposing gravity, such as when the key
hands are extended. It is usually not evident at rest. 609558009
html:p In addition to the hands and arms, muscles of the trunk, face, head, and neck
may also exhibit tremor in this disorder; the legs and feet are less often
involved. Head tremor may appear as a "yes-yes" or "no-no" movement while the
affected individual is seated or standing. In some people with essential tremor,
the tremor may affect the voice (vocal tremor).
html:p Essential tremor does not shorten the lifespan. However, it may interfere with
fine motor skills such as using eating utensils, writing, shaving, or applying
makeup, and in some cases these and other activities of daily living can be
greatly impaired. Symptoms of essential tremor may be aggravated by emotional
stress, anxiety, fatigue, hunger, caffeine, cigarette smoking, or temperature
extremes.
html:p Essential tremor may appear at any age but is most common in the elderly. Some
studies have suggested that people with essential tremor have a higher than
average risk of developing neurological conditions including Parkinson disease
or sensory problems such as hearing loss, especially in individuals whose tremor
appears after age 65.
related-gene-list
Ethylmalonic encephalopathy https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy About 70 individuals with this condition have been identified worldwide, html:p Ethylmalonic encephalopathy is an inherited disorder that affects several body ar autosomal recessive ETHE1 https://ghr.nlm.nih.gov/gene/ETHE1 encephalopathy, petechiae, and ethylmalonic aciduria db key 2017-08 2017-12-29
mostly in Mediterranean and Arab populations. Although ethylmalonic systems, particularly the nervous system. Neurological signs and symptoms EPEMA syndrome GTR C1865349
encephalopathy appears to be very rare, researchers suggest that some cases have include delayed development and the loss of previously acquired skills db key
been misdiagnosed as other neurological disorders. (developmental regression), weak muscle tone (hypotonia), seizures, and abnormal GeneReviews ee
movements. The body's network of blood vessels (the vascular system) is also db key
affected. Children with this disorder often develop rashes of tiny red spots MeSH D001928
(petechiae) caused by bleeding under the skin and blue discoloration in the db key
hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic OMIM 602473
diarrhea is another common feature of ethylmalonic encephalopathy. db key
html:p The signs and symptoms of ethylmalonic encephalopathy are apparent at birth or Orphanet 51188
begin in the first few months of life. Problems with the nervous system db key
typically worsen over time, and most affected individuals survive only into SNOMED CT 811000124106
early childhood.
related-gene-list
Ewing sarcoma https://ghr.nlm.nih.gov/condition/ewing-sarcoma Approximately 3 per 1 million children each year are diagnosed with a Ewing html:p Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as n not inherited ERG https://ghr.nlm.nih.gov/gene/ERG Ewing family of tumors db key 2016-06 2017-12-29
尤文氏肉瘤 sarcoma. It is estimated that, in the United States, 250 children are diagnosed cartilage or nerves. There are several types of Ewing sarcoma, including Ewing related-gene gene-symbol ghr-page Ewing tumor GTR C0553580
(bone tumor) with one of these types of tumor each year. Ewing sarcoma accounts for about sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive ETV1 https://ghr.nlm.nih.gov/gene/ETV1 Ewing's sarcoma db key
1.5 percent of all childhood cancers, and it is the second most common type of neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to related-gene gene-symbol ghr-page Ewing's tumor MeSH D012512
bone tumor in children (the most common type of bone cancer is called be related because they have similar genetic causes. These types of Ewing ETV4 https://ghr.nlm.nih.gov/gene/ETV4 tumor of the Ewing family db key
osteosarcoma). sarcoma can be distinguished from one another by the tissue in which the tumor related-gene gene-symbol ghr-page OMIM 612219
develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, EWSR1 https://ghr.nlm.nih.gov/gene/EWSR1 db key
which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, related-gene gene-symbol ghr-page Orphanet 319
ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma FEV https://ghr.nlm.nih.gov/gene/FEV db key
describes tumors in the soft tissues around bones, such as cartilage. pPNETs related-gene gene-symbol ghr-page SNOMED CT 128783001
occur in nerve tissue and can be found in many parts of the body. A type of FLI1 https://ghr.nlm.nih.gov/gene/FLI1 db key
pPNET found in the chest is called Askin tumor. related-gene gene-symbol ghr-page SNOMED CT 307608006
html:p Ewing sarcomas most often occur in children and young adults. Affected FUS https://ghr.nlm.nih.gov/gene/FUS db key
individuals usually feel stiffness, pain, swelling, or tenderness of the bone or related-chromosome name ghr-page SNOMED CT 447951009
surrounding tissue. Sometimes, there is a lump near the surface of the skin 11 https://ghr.nlm.nih.gov/chromosome/11 db key
that feels warm and soft to the touch. Often, children have a fever that does related-chromosome name ghr-page SNOMED CT 76909002
not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and 22 https://ghr.nlm.nih.gov/chromosome/22
affected individuals may have a broken bone with no obvious cause.
html:p It is common for Ewing sarcoma to spread to other parts of the body
(metastasize), usually to the lungs, to other bones, or to the bone marrow.
related-gene-list
Fabry disease https://ghr.nlm.nih.gov/condition/fabry-disease Fabry disease affects an estimated 1 in 40,000 to 60,000 males. This html:p Fabry disease is an inherited disorder that results from the buildup of a xr X-linked recessive GLA https://ghr.nlm.nih.gov/gene/GLA alpha-galactosidase A deficiency db key 2012-02 2017-12-29
Fabry氏症 disorder also occurs in females, although the prevalence is unknown. Milder, particular type of fat, called globotriaosylceramide, in the body's cells. Anderson-Fabry disease GTR C0002986
法布瑞氏症 late-onset forms of the disorder are probably more common than the classic, Beginning in childhood, this buildup causes signs and symptoms that affect many angiokeratoma corporis diffusum db key
severe form. parts of the body. Characteristic features of Fabry disease include episodes of angiokeratoma diffuse GeneReviews fabry
pain, particularly in the hands and feet (acroparesthesias); clusters of small, ceramide trihexosidase deficiency db key
dark red spots on the skin called angiokeratomas; a decreased ability to sweat Fabry's disease ICD-10-CM E75.21
(hypohidrosis); cloudiness of the front part of the eye (corneal opacity); GLA deficiency db key
problems with the gastrointestinal system; ringing in the ears (tinnitus); and hereditary dystopic lipidosis MeSH D000795
hearing loss. Fabry disease also involves potentially life-threatening db key
complications such as progressive kidney damage, heart attack, and stroke. Some Orphanet 324
affected individuals have milder forms of the disorder that appear later in life db key
and affect only the heart or kidneys. SNOMED CT 124464003
db key
related-gene-list SNOMED CT 16652001
Facioscapulohumeral muscular dystrophy https://ghr.nlm.nih.gov/condition/facioscapulohumeral-muscular-dystrophy Facioscapulohumeral muscular dystrophy has an estimated prevalence of 1 in html:p Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle ad autosomal dominant DUX4 https://ghr.nlm.nih.gov/gene/DUX4 facio-scapulo-humeral dystrophy db key 2014-08 2017-12-29
面肩胛肱肌失養症 20,000 people. About 95 percent of all cases are FSHD1; the remaining 5 percent weakness and wasting (atrophy). This condition gets its name from the muscles related-gene gene-symbol ghr-page facioscapulohumeral atrophy GTR C0238288
are FSHD2. that are affected most often: those of the face (facio-), around the shoulder SMCHD1 https://ghr.nlm.nih.gov/gene/SMCHD1 facioscapulohumeral type progressive muscular dystrophy db key
blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of related-chromosome name ghr-page facioscapuloperoneal muscular dystrophy GTR C1834671
facioscapulohumeral muscular dystrophy usually appear in adolescence. However, 4 https://ghr.nlm.nih.gov/chromosome/4 FSH muscular dystrophy db key
the onset and severity of the condition varies widely. Milder cases may not FSHD GeneReviews fsh
become noticeable until later in life, whereas rare severe cases become apparent muscular dystrophy, facioscapulohumeral db key
in infancy or early childhood. MeSH D020391
html:p Weakness involving the facial muscles or shoulders is usually the first symptom db key
of this condition. Facial muscle weakness often makes it difficult to drink from OMIM 158900
a straw, whistle, or turn up the corners of the mouth when smiling. Weakness in db key
muscles around the eyes can prevent the eyes from closing fully while a person OMIM 158901
is asleep, which can lead to dry eyes and other eye problems. For reasons that db key
are unclear, weakness may be more severe in one side of the face than the other. Orphanet 269
Weak shoulder muscles tend to make the shoulder blades (scapulae) protrude db key
from the back, a common sign known as scapular winging. Weakness in muscles of SNOMED CT 399091004
the shoulders and upper arms can make it difficult to raise the arms over the
head or throw a ball.
html:p The muscle weakness associated with facioscapulohumeral muscular dystrophy
worsens slowly over decades and may spread to other parts of the body. Weakness
in muscles of the lower legs can lead to a condition called foot drop, which
affects walking and increases the risk of falls. Muscular weakness in the hips
and pelvis can make it difficult to climb stairs or walk long distances.
Additionally, affected individuals may have an exaggerated curvature of the
lower back (lordosis) due to weak abdominal muscles. About 20 percent of
affected individuals eventually require the use of a wheelchair.
html:p Additional signs and symptoms of facioscapulohumeral muscular dystrophy can
include mild high-tone hearing loss and abnormalities involving the
light-sensitive tissue at the back of the eye (the retina). These signs are
often not noticeable and may be discovered only during medical testing. Rarely,
facioscapulohumeral muscular dystrophy affects the heart (cardiac) muscle or
muscles needed for breathing.
html:p Researchers have described two types of facioscapulohumeral muscular dystrophy:
type 1 (FSHD1) and type 2 (FSHD2). The two types have the same signs and
symptoms and are distinguished by their genetic cause.
related-gene-list
Factor V deficiency https://ghr.nlm.nih.gov/condition/factor-v-deficiency Factor V deficiency affects an estimated 1 in 1 million people. This html:p Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this ar autosomal recessive F5 https://ghr.nlm.nih.gov/gene/F5 labile factor deficiency db key 2013-05 2017-12-29
第五凝血因子缺乏症 condition is more common in countries such as Iran and southern India, where it condition can begin at any age, although the most severe cases are apparent in Owren disease GTR C0015499
occurs up to ten times more frequently than in western countries. childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; Owren's disease db key
bleeding under the skin; bleeding of the gums; and prolonged or excessive parahemophilia MeSH D005166
bleeding following surgery, trauma, or childbirth. Women with factor V proaccelerin deficiency db key
deficiency can have heavy or prolonged menstrual bleeding (menorrhagia). OMIM 227400
Bleeding into joint spaces (hemarthrosis) can also occur, although it is rare. db key
Severely affected individuals have an increased risk of bleeding inside the Orphanet 326
skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the db key
gastrointestinal tract, which can be life-threatening. SNOMED CT 4320005
related-gene-list
Factor V Leiden thrombophilia https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia Factor V Leiden is the most common inherited form of thrombophilia. Between html:p Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor u pattern unknown F5 https://ghr.nlm.nih.gov/gene/F5 APC resistance, Leiden type db key 2010-08 2017-12-29
(Blood) 3 and 8 percent of people with European ancestry carry one copy of the factor V V Leiden is the name of a specific gene mutation that results in thrombophilia, Hereditary resistance to activated protein C GTR C1861171
Leiden mutation in each cell, and about 1 in 5,000 people have two copies of which is an increased tendency to form abnormal blood clots that can block db key
the mutation. The mutation is less common in other populations. blood vessels. GTR C2674152
html:p People with factor V Leiden thrombophilia have a higher than average risk of db key
developing a type of blood clot called a deep venous thrombosis (DVT). DVTs GeneReviews factor-v-leiden
occur most often in the legs, although they can also occur in other parts of the db key
body, including the brain, eyes, liver, and kidneys. Factor V Leiden ICD-10-CM D68.51
thrombophilia also increases the risk that clots will break away from their db key
original site and travel through the bloodstream. These clots can lodge in the MeSH D020016
lungs, where they are known as pulmonary emboli. Although factor V Leiden db key
thrombophilia increases the risk of blood clots, only about 10 percent of OMIM 188055
individuals with the factor V Leiden mutation ever develop abnormal clots. db key
html:p The factor V Leiden mutation is associated with a slightly increased risk of SNOMED CT 421527008
pregnancy loss (miscarriage). Women with this mutation are two to three times
more likely to have multiple (recurrent) miscarriages or a pregnancy loss during
the second or third trimester. Some research suggests that the factor V Leiden
mutation may also increase the risk of other complications during pregnancy,
including pregnancy-induced high blood pressure (preeclampsia), slow fetal
growth, and early separation of the placenta from the uterine wall (placental
abruption). However, the association between the factor V Leiden mutation and
these complications has not been confirmed. Most women with factor V Leiden
thrombophilia have normal pregnancies.
related-gene-list
Factor VII deficiency https://ghr.nlm.nih.gov/condition/factor-vii-deficiency Factor VII deficiency is estimated to affect 1 in 300,000 to 1 in 500,000 html:p Factor VII deficiency is a rare bleeding disorder that varies in severity among ar autosomal recessive F7 https://ghr.nlm.nih.gov/gene/F7 F7 deficiency db key 2016-10 2017-12-29
第七凝血因子缺乏症 people. It is the most frequently occurring of a group of disorders classified affected individuals. The signs and symptoms of this condition can begin at any code memo hypoproconvertinemia GTR C0015503
(Blood) as rare bleeding disorders. age, although the most severe cases are apparent in infancy. However, up to n not inherited proconvertin deficiency db key
one-third of people with factor VII deficiency never have any bleeding problems. prothrombin conversion accelerator deficiency MeSH D005168
Factor VII deficiency commonly causes nosebleeds (epistaxis), bleeding of the serum prothrombin conversion accelerator deficiency db key
gums, easy bruising, and prolonged or excessive bleeding following surgery or OMIM 227500
physical injury. Bleeding into joint spaces (hemarthrosis) and blood in the db key
urine (hematuria) occasionally occur. Many women with factor VII deficiency have Orphanet 327
heavy or prolonged menstrual bleeding (menorrhagia). Severely affected db key
individuals have an increased risk of bleeding inside the skull (intracranial SNOMED CT 37193007
hemorrhage) or in the gastrointestinal tract, which can be life-threatening.
Although factor VII deficiency is primarily associated with increased bleeding,
some people with the condition have excessive blood clotting (thrombosis).
related-gene-list
Factor X deficiency https://ghr.nlm.nih.gov/condition/factor-x-deficiency Factor X deficiency occurs in approximately 1 per million individuals html:p Factor X deficiency is a rare bleeding disorder that varies in severity among ar autosomal recessive F10 https://ghr.nlm.nih.gov/gene/F10 congenital Stuart factor deficiency db key 2015-01 2017-12-29
(Blood) worldwide. affected individuals. The signs and symptoms of this condition can begin at any code memo F10 deficiency GTR C0015519
age, although the most severe cases are apparent in childhood. Factor X n not inherited Stuart-Prower factor deficiency db key
deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, ICD-10-CM D68.2
bleeding of the gums, blood in the urine (hematuria), and prolonged or excessive db key
bleeding following surgery or trauma. Women with factor X deficiency can have MeSH D005171
heavy or prolonged menstrual bleeding (menorrhagia) or excessive bleeding in db key
childbirth, and may be at increased risk of pregnancy loss (miscarriage). OMIM 227600
Bleeding into joint spaces (hemarthrosis) occasionally occurs. Severely affected db key
individuals have an increased risk of bleeding inside the skull (intracranial Orphanet 328
hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal db key
tract, which can be life-threatening. SNOMED CT 76642003
related-gene-list
Factor XI deficiency https://ghr.nlm.nih.gov/condition/factor-xi-deficiency Factor XI deficiency is estimated to affect approximately 1 in 1 million html:p Factor XI deficiency is a disorder that can cause abnormal bleeding due to a ad autosomal dominant F11 https://ghr.nlm.nih.gov/gene/F11 F11 deficiency db key 2017-05 2017-12-29
(Blood) people worldwide. The severe deficiency disorder is much more common in people shortage (deficiency) of the factor XI protein, which is involved in blood code memo factor 11 deficiency GTR C0015523
with central and eastern European (Ashkenazi) Jewish ancestry, occurring in clotting. This condition is classified as either partial or severe based on the ar autosomal recessive haemophilia C db key
about 1 in 450 individuals in that population. Researchers suggest that the degree of deficiency of the factor XI protein. However, regardless of the hemophilia C ICD-10-CM D68.1
actual prevalence of factor XI deficiency may be higher than reported, because severity of the protein deficiency, most affected individuals have relatively plasma thromboplastin antecedent deficiency db key
mild cases of the disorder often do not come to medical attention. mild bleeding problems, and some people with this disorder have few if any PTA deficiency MeSH D005173
symptoms. The most common feature of factor XI deficiency is prolonged bleeding Rosenthal factor deficiency db key
after trauma or surgery, especially involving the inside of the mouth and nose Rosenthal syndrome OMIM 612416
(oral and nasal cavities) or the urinary tract. If the bleeding is left Rosenthal's disease db key
untreated after surgery, solid swellings consisting of congealed blood Orphanet 329
(hematomas) can develop in the surgical area. db key
html:p Other signs and symptoms of this disorder can include frequent nosebleeds, easy SNOMED CT 49762007
bruising, bleeding under the skin, and bleeding of the gums. Women with this
disorder can have heavy or prolonged menstrual bleeding (menorrhagia) or
prolonged bleeding after childbirth. In contrast to some other bleeding
disorders, spontaneous bleeding into the urine (hematuria), gastrointestinal
tract, or skull cavity are not common in factor XI deficiency, although they can
occur in severely affected individuals. Bleeding into the muscles or joints,
which can cause long-term disability in other bleeding disorders, generally does
not occur in this condition.
related-gene-list
Factor XIII deficiency https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency Inherited factor XIII deficiency affects 1 to 3 per million people html:p Factor XIII deficiency is a rare bleeding disorder. Researchers have identified ar autosomal recessive F13A1 https://ghr.nlm.nih.gov/gene/F13A1 deficiency of factor XIII db key 2015-09 2017-12-29
(Blood) worldwide. Researchers suspect that mild factor XIII deficiency, including the an inherited form and a less severe form that is acquired during a person's related-gene gene-symbol ghr-page deficiency, Laki-Lorand factor GTR C2750481
acquired form of the disorder, is underdiagnosed because many affected people lifetime. F13B https://ghr.nlm.nih.gov/gene/F13B fibrin stabilizing factor deficiency db key
never have a major episode of abnormal bleeding that would lead to a diagnosis. html:p Signs and symptoms of inherited factor XIII deficiency begin soon after birth, GTR C2750514
usually with abnormal bleeding from the umbilical cord stump. If the condition db key
is not treated, affected individuals may have episodes of excessive and MeSH D005177
prolonged bleeding that can be life-threatening. Abnormal bleeding can occur db key
after surgery or minor trauma. The condition can also cause spontaneous bleeding OMIM 613225
into the joints or muscles, leading to pain and disability. Women with db key
inherited factor XIII deficiency tend to have heavy or prolonged menstrual OMIM 613235
bleeding (menorrhagia) and may experience recurrent pregnancy losses db key
(miscarriages). Other signs and symptoms of inherited factor XIII deficiency Orphanet 331
include nosebleeds, bleeding of the gums, easy bruising, problems with wound db key
healing, and abnormal scar formation. Inherited factor XIII deficiency also SNOMED CT 18604004
increases the risk of spontaneous bleeding inside the skull (intracranial
hemorrhage), which is the leading cause of death in people with this condition.
html:p Acquired factor XIII deficiency becomes apparent later in life. People with the
acquired form are less likely to have severe or life-threatening episodes of
abnormal bleeding than those with the inherited form.
inheritance-pattern-list related-gene-list
Familial acute myeloid leukemia with mutated CEBPA https://ghr.nlm.nih.gov/condition/familial-acute-myeloid-leukemia-with-mutated-c Acute myeloid leukemia occurs in approximately 3.5 in 100,000 individuals html:p html:i ad autosomal dominant ghr-page CEBPA-dependent familial acute myeloid leukemia db-key db key 2015-07 2017-12-29
(Blood) ebpa per year. Familial acute myeloid leukemia with mutated CEBPA is a very rare form CEBPA https://ghr.nlm.nih.gov/gene/CEBPA familial acute myeloid leukaemia GTR C0023467
of acute myeloid leukemia; only a few affected families have been identified. db-key db key
GeneReviews cebpa-aml
db-key db key
MeSH D015470
db-key db key
OMIM 601626
db-key db key
Orphanet 519
db-key db key
html:p html:i SNOMED CT 397340004
CEBPA
may include fever and weight loss.
html:p While acute myeloid leukemia is generally a disease of older adults, familial
html:i
CEBPA
have a higher risk of having a new primary occurrence of this disorder after
successful treatment of the initial occurrence.
related-gene-list
Familial adenomatous polyposis, FAP https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis The reported incidence of familial adenomatous polyposis varies from 1 in html:p Familial adenomatous polyposis (FAP) is an inherited disorder characterized by ad autosomal dominant APC https://ghr.nlm.nih.gov/gene/APC adenomatous familial polyposis db key 2013-10 2017-12-29
家族性大腸瘜肉症 7,000 to 1 in 22,000 individuals. cancer of the large intestine (colon) and rectum. People with the classic type code memo related-gene gene-symbol ghr-page adenomatous familial polyposis syndrome GTR C0032580
家族遺傳性大腸多發性息肉 of familial adenomatous polyposis may begin to develop multiple noncancerous ar autosomal recessive MUTYH https://ghr.nlm.nih.gov/gene/MUTYH adenomatous polyposis coli db key
(Cancer) (benign) growths (polyps) in the colon as early as their teenage years. Unless familial multiple polyposis syndrome GTR C1837991
the colon is removed, these polyps will become malignant (cancerous). The FAP db key
average age at which an individual develops colon cancer in classic familial MYH-associated polyposis GTR C1851124
adenomatous polyposis is 39 years. Some people have a variant of the disorder, db key
called attenuated familial adenomatous polyposis, in which polyp growth is GTR C2713442
delayed. The average age of colorectal cancer onset for attenuated familial db key
adenomatous polyposis is 55 years. GeneReviews fap
html:p In people with classic familial adenomatous polyposis, the number of polyps db key
increases with age, and hundreds to thousands of polyps can develop in the GeneReviews maps
colon. Also of particular significance are noncancerous growths called desmoid db key
tumors. These fibrous tumors usually occur in the tissue covering the intestines MeSH D011125
and may be provoked by surgery to remove the colon. Desmoid tumors tend to db key
recur after they are surgically removed. In both classic familial adenomatous OMIM 135290
polyposis and its attenuated variant, benign and malignant tumors are sometimes db key
found in other places in the body, including the duodenum (a section of the OMIM 175100
small intestine), stomach, bones, skin, and other tissues. People who have colon db key
polyps as well as growths outside the colon are sometimes described as having OMIM 608456
Gardner syndrome. db key
html:p A milder type of familial adenomatous polyposis, called autosomal recessive Orphanet 733
familial adenomatous polyposis, has also been identified. People with the db key
autosomal recessive type of this disorder have fewer polyps than those with the SNOMED CT 423471004
classic type. Fewer than 100 polyps typically develop, rather than hundreds or db key
thousands. The autosomal recessive type of this disorder is caused by mutations SNOMED CT 72900001
in a different gene than the classic and attenuated types of familial
adenomatous polyposis.
Familial Amyloidotic Polyneuropathy
家族性澱粉樣多發性神經病變
related-gene-list
Familial atrial fibrillation https://ghr.nlm.nih.gov/condition/familial-atrial-fibrillation Atrial fibrillation is the most common type of recurrent arrhythmia, html:p Familial atrial fibrillation is an inherited abnormality of the heart's normal ad autosomal dominant ABCC9 https://ghr.nlm.nih.gov/gene/ABCC9 atrial fibrillation, familial db key 2017-10 2017-12-29
affecting more than 3 million people in the United States. The risk of rhythm. Atrial fibrillation is characterized by episodes of uncoordinated related-gene gene-symbol ghr-page auricular fibrillation GTR C1837014
developing this irregular heart rhythm increases with age. The incidence of the electrical activity (fibrillation) in the heart's upper chambers (the atria), GJA5 https://ghr.nlm.nih.gov/gene/GJA5 db key
familial form of atrial fibrillation is unknown; however, recent studies suggest which cause a fast and irregular heartbeat. If untreated, this abnormal heart related-gene gene-symbol ghr-page GTR C1837812
that up to 30 percent of all people who have atrial fibrillation without an rhythm (arrhythmia) can lead to dizziness, chest pain, a sensation of fluttering KCNA5 https://ghr.nlm.nih.gov/gene/KCNA5 db key
identified cause have a history of the condition in their family. or pounding in the chest (palpitations), shortness of breath, or fainting related-gene gene-symbol ghr-page GTR C1843687
(syncope). Atrial fibrillation also increases the risk of stroke and sudden KCNE2 https://ghr.nlm.nih.gov/gene/KCNE2 db key
death. Complications of atrial fibrillation can occur at any age, although some related-gene gene-symbol ghr-page GTR C1862394
people with this heart condition never experience any health problems associated KCNH2 https://ghr.nlm.nih.gov/gene/KCNH2 db key
with the disorder. related-gene gene-symbol ghr-page GTR C1969099
KCNJ2 https://ghr.nlm.nih.gov/gene/KCNJ2 db key
related-gene gene-symbol ghr-page GTR C2677106
KCNQ1 https://ghr.nlm.nih.gov/gene/KCNQ1 db key
related-gene gene-symbol ghr-page GTR C2677294
LMNA https://ghr.nlm.nih.gov/gene/LMNA db key
related-gene gene-symbol ghr-page GTR C2751607
MYL4 https://ghr.nlm.nih.gov/gene/MYL4 db key
related-gene gene-symbol ghr-page GTR C3151431
NKX2-5 https://ghr.nlm.nih.gov/gene/NKX2-5 db key
related-gene gene-symbol ghr-page GTR C3279693
NPPA https://ghr.nlm.nih.gov/gene/NPPA db key
related-gene gene-symbol ghr-page GTR C3279695
NUP155 https://ghr.nlm.nih.gov/gene/NUP155 db key
related-gene gene-symbol ghr-page GTR C3809311
PRKAG2 https://ghr.nlm.nih.gov/gene/PRKAG2 db key
related-gene gene-symbol ghr-page GTR C3809312
RYR2 https://ghr.nlm.nih.gov/gene/RYR2 db key
related-gene gene-symbol ghr-page GTR C4014269
SCN1B https://ghr.nlm.nih.gov/gene/SCN1B db key
related-gene gene-symbol ghr-page GTR C4310636
SCN2B https://ghr.nlm.nih.gov/gene/SCN2B db key
related-gene gene-symbol ghr-page GTR CN196901
SCN3B https://ghr.nlm.nih.gov/gene/SCN3B db key
related-gene gene-symbol ghr-page GTR CN204347
SCN4B https://ghr.nlm.nih.gov/gene/SCN4B db key
related-gene gene-symbol ghr-page GTR CN220307
SCN5A https://ghr.nlm.nih.gov/gene/SCN5A db key
ICD-10-CM I48
db key
ICD-10-CM I48.3
db key
ICD-10-CM I48.4
db key
ICD-10-CM I48.9
db key
MeSH D001281
db key
OMIM 607554
db key
OMIM 608583
db key
OMIM 608988
db key
OMIM 611493
db key
OMIM 611494
db key
OMIM 612201
db key
OMIM 612240
db key
OMIM 613055
db key
OMIM 613980
db key
OMIM 614022
db key
OMIM 614049
db key
OMIM 614050
db key
OMIM 615377
db key
OMIM 615378
db key
OMIM 615770
db key
OMIM 617280
db key
Orphanet 334
db key
inheritance-pattern-list related-gene-list SNOMED CT 49436004
Familial candidiasis https://ghr.nlm.nih.gov/condition/familial-candidiasis Candida is present on the skin and mucous membranes of up to half the html:p Familial candidiasis is an inherited tendency to develop infections caused by a ad autosomal dominant ghr-page familial chronic mucocutaneous candidiasis db-key db key 2016-09 2017-12-29
家族性念珠菌症 population at any given time, normally without creating health problems. The html:i inheritance-pattern code memo related-gene https://ghr.nlm.nih.gov/gene/CARD9 GTR C0341024
prevalence of the inherited susceptibility to Candida infections that Candida ar autosomal recessive ghr-page db-key db key
characterizes familial candidiasis is unknown, but the condition is thought to related-gene https://ghr.nlm.nih.gov/gene/CLEC7A ICD-10-CM B37
be rare. ghr-page db-key db key
related-gene https://ghr.nlm.nih.gov/gene/IL17F MeSH D002178
html:p html:i ghr-page db-key db key
Candida related-gene https://ghr.nlm.nih.gov/gene/IL17RA OMIM 114580
ghr-page db-key db key
(candidiasis) in the mouth (where it is known as thrush) or in the vagina. related-gene https://ghr.nlm.nih.gov/gene/IL17RC OMIM 212050
These episodes, commonly called yeast infections, usually last only a short time ghr-page db-key db key
before being cleared by a healthy immune system. related-gene https://ghr.nlm.nih.gov/gene/RORC OMIM 607644
html:p Most people with familial candidiasis have chronic or recurrent yeast infections ghr-page db-key db key
that begin in early childhood. Skin infections lead to a rash with crusty, related-gene https://ghr.nlm.nih.gov/gene/STAT1 OMIM 613108
thickened patches; when these patches occur on the scalp, they can cause loss of ghr-page db-key db key
hair in the affected area (scarring alopecia). Candidiasis of the nails can https://ghr.nlm.nih.gov/gene/TRAF3IP2 OMIM 613953
result in thick, cracked, and discolored nails and swelling and redness of the db-key db key
surrounding skin. Thrush and gastrointestinal symptoms such as bloating, OMIM 613956
constipation, or diarrhea are common in affected individuals. Women with db-key db key
familial candidiasis can develop frequent vaginal yeast infections, and infants OMIM 614162
can have yeast infections on the skin that cause persistent diaper rash. db-key db key
html:p Depending on the genetic change involved in this condition, some affected OMIM 615527
individuals are at risk for developing systemic candidiasis, a more severe db-key db key
condition in which the infection spreads through the bloodstream to various OMIM 616445
organs including the brain and the meninges, which are the membranes covering db-key db key
the brain and spinal cord. Systemic candidiasis can be life-threatening. OMIM 616622
html:p Chronic or recurrent yeast infections can occur in people without familial db-key db key
candidiasis. Some individuals experience recurrent candidiasis as part of a Orphanet 1334
general susceptibility to infections because their immune systems are impaired db-key db key
by a disease such as acquired immune deficiency syndrome (AIDS) or severe SNOMED CT 235073000
combined immunodeficiency (SCID), medications, or other factors. Other
individuals have syndromes such as autoimmune
polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or autosomal
dominant hyper-IgE syndrome (AD-HIES) that include a tendency to develop
candidiasis along with other signs and symptoms affecting various organs and
systems of the body.
related-gene-list
Familial cold autoinflammatory syndrome https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome Familial cold autoinflammatory syndrome is a very rare condition, believed html:p Familial cold autoinflammatory syndrome is a condition that causes episodes of ad autosomal dominant NLRP3 https://ghr.nlm.nih.gov/gene/NLRP3 cold hypersensitivity db key 2014-12 2017-12-29
to have a prevalence of less than 1 per million people. fever, skin rash, and joint pain after exposure to cold temperatures. These related-gene gene-symbol ghr-page familial cold-induced autoinflammatory syndrome GTR C0343068
episodes usually begin in infancy and occur throughout life. NLRP12 https://ghr.nlm.nih.gov/gene/NLRP12 familial cold urticaria db key
html:p People with this condition usually experience symptoms after cold exposure of an FCAS GTR C2673198
hour or more, although in some individuals only a few minutes of exposure is FCU db key
required. Symptoms may be delayed for up to a few hours after the cold exposure. MeSH D056587
Episodes last an average of 12 hours, but may continue for up to 3 days. db key
html:p In people with familial cold autoinflammatory syndrome, the most common symptom OMIM 120100
that occurs during an episode is an itchy or burning rash. The rash usually db key
begins on the face or extremities and spreads to the rest of the body. OMIM 611762
Occasionally swelling in the extremities may occur. db key
html:p In addition to the skin rash, episodes are characterized by fever, chills, and Orphanet 47045
joint pain, most often affecting the hands, knees, and ankles. Redness in the db key
whites of the eye (conjunctivitis), sweating, drowsiness, headache, thirst, and SNOMED CT 238687000
nausea may also occur during an episode of this disorder.
related-gene-list
Familial cylindromatosis https://ghr.nlm.nih.gov/condition/familial-cylindromatosis Familial cylindromatosis is a rare disorder; its prevalence is unknown. html:p Familial cylindromatosis is a condition involving multiple skin tumors that ad autosomal dominant CYLD https://ghr.nlm.nih.gov/gene/CYLD Ancell-Spiegler cylindromas db key 2012-06 2017-12-29
家族性毛髮上皮瘤 develop from structures associated with the skin (skin appendages), such as cylindromatosis, familial GTR C1851526
(Tumor) hair follicles and sweat glands. People with familial cylindromatosis typically dermal eccrine cylindroma db key
develop large numbers of tumors called cylindromas. While previously thought to turban tumor syndrome MeSH D012878
derive from sweat glands, cylindromas are now generally believed to begin in db key
hair follicles. OMIM 132700
html:p Individuals with familial cylindromatosis occasionally develop other types of db key
tumors, including growths called spiradenomas and trichoepitheliomas. SNOMED CT 447147008
Spiradenomas begin in sweat glands. Trichoepitheliomas arise from hair
follicles. The tumors associated with familial cylindromatosis are generally
noncancerous (benign), but occasionally they may become cancerous (malignant).
Affected individuals are also at increased risk of developing tumors in tissues
other than skin appendages, particularly benign or malignant tumors of the
salivary glands.
html:p People with familial cylindromatosis typically begin developing tumors in
adolescence or early adulthood. The tumors are most often found in hairy regions
of the body, with approximately 90 percent occurring on the head and neck. They
grow larger and increase in number over time.
html:p In severely affected individuals, multiple tumors on the scalp may combine into
a large, turban-like growth. Large growths frequently develop open sores
(ulcers) and are prone to infections. The tumors may also get in the way of the
eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The
growths can be disfiguring and may contribute to depression or other
psychological problems. For reasons that are unclear, females with familial
cylindromatosis are often more severely affected than males.
related-gene-list
Familial dilated cardiomyopathy https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy It is estimated that 750,000 people in the United States have dilated html:p Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs ad autosomal dominant ABCC9 https://ghr.nlm.nih.gov/gene/ABCC9 congestive cardiomyopathy db key 2017-04 2017-12-29
家族性扩张型心肌病 cardiomyopathy; roughly half of these cases are familial. when heart (cardiac) muscle becomes thin and weakened in at least one chamber of code memo related-gene gene-symbol ghr-page familial idiopathic cardiomyopathy GTR C0007193
the heart, causing the open area of the chamber to become enlarged (dilated). ar autosomal recessive ACTC1 https://ghr.nlm.nih.gov/gene/ACTC1 FDC db key
As a result, the heart is unable to pump blood as efficiently as usual. To code memo related-gene gene-symbol ghr-page primary familial dilated cardiomyopathy GeneReviews dbmd
compensate, the heart attempts to increase the amount of blood being pumped xd X-linked dominant ACTN2 https://ghr.nlm.nih.gov/gene/ACTN2 db key
through the heart, leading to further thinning and weakening of the cardiac related-gene gene-symbol ghr-page GeneReviews dcm-lmna
muscle. Over time, this condition results in heart failure. ANKRD1 https://ghr.nlm.nih.gov/gene/ANKRD1 db key
html:p It usually takes many years for symptoms of familial dilated cardiomyopathy to related-gene gene-symbol ghr-page GeneReviews dcm-ov
cause health problems. They typically begin in mid-adulthood, but can occur at BAG3 https://ghr.nlm.nih.gov/gene/BAG3 db key
any time from infancy to late adulthood. Signs and symptoms of familial dilated related-gene gene-symbol ghr-page ICD-10-CM I42.0
cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of CRYAB https://ghr.nlm.nih.gov/gene/CRYAB db key
breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and related-gene gene-symbol ghr-page MeSH D002311
swelling of the legs and feet. In some cases, the first sign of the disorder is CSRP3 https://ghr.nlm.nih.gov/gene/CSRP3 db key
sudden cardiac death. The severity of the condition varies among affected related-gene gene-symbol ghr-page OMIM 115200
individuals, even in members of the same family. DES https://ghr.nlm.nih.gov/gene/DES db key
related-gene gene-symbol ghr-page OMIM 302045
DMD https://ghr.nlm.nih.gov/gene/DMD db key
related-gene gene-symbol ghr-page OMIM 600884
DSG2 https://ghr.nlm.nih.gov/gene/DSG2 db key
related-gene gene-symbol ghr-page OMIM 601154
EYA4 https://ghr.nlm.nih.gov/gene/EYA4 db key
related-gene gene-symbol ghr-page OMIM 601493
GATAD1 https://ghr.nlm.nih.gov/gene/GATAD1 db key
related-gene gene-symbol ghr-page OMIM 601494
LAMA4 https://ghr.nlm.nih.gov/gene/LAMA4 db key
related-gene gene-symbol ghr-page OMIM 604145
LDB3 https://ghr.nlm.nih.gov/gene/LDB3 db key
related-gene gene-symbol ghr-page OMIM 604288
LMNA https://ghr.nlm.nih.gov/gene/LMNA db key
related-gene gene-symbol ghr-page OMIM 604765
MYBPC3 https://ghr.nlm.nih.gov/gene/MYBPC3 db key
related-gene gene-symbol ghr-page OMIM 605362
MYH6 https://ghr.nlm.nih.gov/gene/MYH6 db key
related-gene gene-symbol ghr-page OMIM 605582
MYH7 https://ghr.nlm.nih.gov/gene/MYH7 db key
related-gene gene-symbol ghr-page OMIM 606685
MYPN https://ghr.nlm.nih.gov/gene/MYPN db key
related-gene gene-symbol ghr-page OMIM 607482
PLN https://ghr.nlm.nih.gov/gene/PLN db key
related-gene gene-symbol ghr-page OMIM 607487
PSEN1 https://ghr.nlm.nih.gov/gene/PSEN1 db key
related-gene gene-symbol ghr-page OMIM 608569
PSEN2 https://ghr.nlm.nih.gov/gene/PSEN2 db key
related-gene gene-symbol ghr-page OMIM 609909
RBM20 https://ghr.nlm.nih.gov/gene/RBM20 db key
related-gene gene-symbol ghr-page OMIM 609915
SCN5A https://ghr.nlm.nih.gov/gene/SCN5A db key
related-gene gene-symbol ghr-page OMIM 611407
SGCD https://ghr.nlm.nih.gov/gene/SGCD db key
related-gene gene-symbol ghr-page OMIM 611878
TAZ https://ghr.nlm.nih.gov/gene/TAZ db key
related-gene gene-symbol ghr-page OMIM 611879
TCAP https://ghr.nlm.nih.gov/gene/TCAP db key
related-gene gene-symbol ghr-page OMIM 611880
TMPO https://ghr.nlm.nih.gov/gene/TMPO db key
related-gene gene-symbol ghr-page OMIM 612158
TNNC1 https://ghr.nlm.nih.gov/gene/TNNC1 db key
related-gene gene-symbol ghr-page OMIM 612877
TNNI3 https://ghr.nlm.nih.gov/gene/TNNI3 db key
related-gene gene-symbol ghr-page OMIM 613172
TNNT2 https://ghr.nlm.nih.gov/gene/TNNT2 db key
related-gene gene-symbol ghr-page OMIM 613252
TPM1 https://ghr.nlm.nih.gov/gene/TPM1 db key
related-gene gene-symbol ghr-page OMIM 613424
TTN https://ghr.nlm.nih.gov/gene/TTN db key
related-gene gene-symbol ghr-page OMIM 613426
VCL https://ghr.nlm.nih.gov/gene/VCL db key
OMIM 613694
db key
OMIM 613697
db key
OMIM 613881
db key
OMIM 614672
db key
OMIM 614672
db key
OMIM 615184
db key
OMIM 615235
db key
OMIM 615248
db key
OMIM 615396
db key
Orphanet 154
db key
related-gene-list SNOMED CT 52029003
Familial dysautonomia https://ghr.nlm.nih.gov/condition/familial-dysautonomia Familial dysautonomia occurs primarily in people of Ashkenazi (central or html:p Familial dysautonomia is a genetic disorder that affects the development and ar autosomal recessive ELP1 https://ghr.nlm.nih.gov/gene/ELP1 FD db key 2013-08 2017-12-29
家族性植物神经功能障碍症 eastern European) Jewish descent. It affects about 1 in 3,700 individuals in survival of certain nerve cells. The disorder disturbs cells in the autonomic HSAN Type III GTR C0013364
Ashkenazi Jewish populations. Familial dysautonomia is extremely rare in the nervous system, which controls involuntary actions such as digestion, breathing, HSAN3 db key
general population. production of tears, and the regulation of blood pressure and body temperature. HSN-III GeneReviews fd
It also affects the sensory nervous system, which controls activities related Riley-Day Syndrome db key
to the senses, such as taste and the perception of pain, heat, and cold. ICD-10-CM G90.1
Familial dysautonomia is also called hereditary sensory and autonomic db key
neuropathy, type III. MeSH D004402
html:p Problems related to this disorder first appear during infancy. Early signs and db key
symptoms include poor muscle tone (hypotonia), feeding difficulties, poor OMIM 223900
growth, lack of tears, frequent lung infections, and difficulty maintaining body db key
temperature. Older infants and young children with familial dysautonomia may Orphanet 1764
hold their breath for prolonged periods of time, which may cause a bluish db key
appearance of the skin or lips (cyanosis) or fainting. This breath-holding SNOMED CT 29159009
behavior usually stops by age 6. Developmental milestones, such as walking and
speech, are usually delayed, although some affected individuals show no signs of
developmental delay.
html:p Additional signs and symptoms in school-age children include bed wetting,
episodes of vomiting, reduced sensitivity to temperature changes and pain, poor
balance, abnormal curvature of the spine (scoliosis), poor bone quality and
increased risk of bone fractures, and kidney and heart problems. Affected
individuals also have poor regulation of blood pressure. They may experience a
sharp drop in blood pressure upon standing (orthostatic hypotension), which can
cause dizziness, blurred vision, or fainting. They can also have episodes of
high blood pressure when nervous or excited, or during vomiting incidents. About
one-third of children with familial dysautonomia have learning disabilities,
such as a short attention span, that require special education classes. By
adulthood, affected individuals often have increasing difficulties with balance
and walking unaided. Other problems that may appear in adolescence or early
adulthood include lung damage due to repeated infections, impaired kidney
function, and worsening vision due to the shrinking size (atrophy) of optic
nerves, which carry information from the eyes to the brain.
related-gene-list
Familial encephalopathy with neuroserpin inclusion bodies https://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclu This condition appears to be rare; only a few affected individuals have html:p Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder ad autosomal dominant SERPINI1 https://ghr.nlm.nih.gov/gene/SERPINI1 familial dementia with neuroserpin inclusion bodies db key 2009-04 2017-12-29
sion-bodies been reported worldwide. that causes progressive dysfunction of the brain (encephalopathy). It is FENIB GTR C1858680
characterized by a loss of intellectual functioning (dementia) and seizures. At db key
first, affected individuals may have difficulty sustaining attention and MeSH D004831
concentrating. They may experience repetitive thoughts, speech, or movements. As db key
the condition progresses, their personality changes and judgment, insight, and MeSH D020271
memory become impaired. Affected people lose the ability to perform the db key
activities of daily living, and most eventually require comprehensive care. OMIM 604218
html:p The signs and symptoms of FENIB vary in their severity and age of onset. In db key
severe cases, the condition causes seizures and episodes of sudden, involuntary Orphanet 85110
muscle jerking or twitching (myoclonus) in addition to dementia. These signs can db key
appear as early as a person's teens. Less severe cases are characterized by a SNOMED CT 702421006
progressive decline in intellectual functioning beginning in a person's forties
or fifties.
related-gene-list
Familial erythrocytosis https://ghr.nlm.nih.gov/condition/familial-erythrocytosis Familial erythrocytosis is a rare condition; its prevalence is unknown. html:p Familial erythrocytosis is an inherited condition characterized by an increased ad autosomal dominant EGLN1 https://ghr.nlm.nih.gov/gene/EGLN1 benign familial polycythemia db key 2012-08 2017-12-29
家族性紅細胞增多症 number of red blood cells (erythrocytes). The primary function of these cells is code memo related-gene gene-symbol ghr-page congenital erythrocytosis GTR C1837915
to carry oxygen from the lungs to tissues and organs throughout the body. Signs ar autosomal recessive EPAS1 https://ghr.nlm.nih.gov/gene/EPAS1 familial polycythemia db key
and symptoms of familial erythrocytosis can include headaches, dizziness, related-gene gene-symbol ghr-page hereditary erythrocytosis GTR C1851490
nosebleeds, and shortness of breath. The excess red blood cells also increase EPOR https://ghr.nlm.nih.gov/gene/EPOR primary familial polycythemia db key
the risk of developing abnormal blood clots that can block the flow of blood related-gene gene-symbol ghr-page GTR C1853286
through arteries and veins. If these clots restrict blood flow to essential VHL https://ghr.nlm.nih.gov/gene/VHL db key
organs and tissues (particularly the heart, lungs, or brain), they can cause GTR C2673187
life-threatening complications such as a heart attack or stroke. However, many db key
people with familial erythrocytosis experience only mild signs and symptoms or GeneReviews pfcp
never have any problems related to their extra red blood cells. db key
ICD-10-CM D75.0
db key
MeSH D011086
db key
OMIM 133100
db key
OMIM 263400
db key
OMIM 609820
db key
OMIM 611783
db key
Orphanet 90042
db key
related-gene-list SNOMED CT 17342003
Familial exudative vitreoretinopathy https://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy The prevalence of familial exudative vitreoretinopathy is unknown. It html:p Familial exudative vitreoretinopathy is a hereditary disorder that can cause ad autosomal dominant FZD4 https://ghr.nlm.nih.gov/gene/FZD4 FEVR db key 2009-02 2017-12-29
Familial exudativevitreoretinopathy appears to be rare, although affected people with normal vision may never come progressive vision loss. This condition affects the retina, the specialized code memo related-gene gene-symbol ghr-page GTR C1844579
家族性滲出性玻璃體視網膜病變 to medical attention. light-sensitive tissue that lines the back of the eye. The disorder prevents ar autosomal recessive LRP5 https://ghr.nlm.nih.gov/gene/LRP5 db key
(Vision) blood vessels from forming at the edges of the retina, which reduces the blood code memo related-gene gene-symbol ghr-page GTR C1851402
supply to this tissue. xr X-linked recessive NDP https://ghr.nlm.nih.gov/gene/NDP db key
html:p The signs and symptoms of familial exudative vitreoretinopathy vary widely, even GTR C1854002
within the same family. In many affected individuals, the retinal db key
abnormalities never cause any vision problems. In others, a reduction in the GTR C1866176
retina's blood supply causes the retina to fold, tear, or separate from the back db key
of the eye (retinal detachment). This retinal damage can lead to vision loss GeneReviews fevr
and blindness. Other eye abnormalities are also possible, including eyes that db key
do not look in the same direction (strabismus) and a visible whiteness GeneReviews norrie
(leukocoria) in the normally black pupil. db key
html:p Some people with familial exudative vitreoretinopathy also have reduced bone MeSH D012164
mineral density, which weakens bones and increases the risk of fractures. db key
OMIM 133780
db key
OMIM 305390
db key
OMIM 601813
db key
OMIM 605750
db key
Orphanet 891
db key
related-gene-list SNOMED CT 232063007
Familial focal epilepsy with variable foci https://ghr.nlm.nih.gov/condition/familial-focal-epilepsy-with-variable-foci The prevalence of FFEVF is unknown. html:p Familial focal epilepsy with variable foci (FFEVF) is an uncommon form of ad autosomal dominant DEPDC5 https://ghr.nlm.nih.gov/gene/DEPDC5 familial partial epilepsy with variable foci db key 2017-03 2017-12-29
recurrent seizures (epilepsy) that runs in families. Seizures associated with related-gene gene-symbol ghr-page FFEVF GTR C1858477
FFEVF can begin at any time from infancy to adulthood. The seizures are NPRL2 https://ghr.nlm.nih.gov/gene/NPRL2 partial epilepsy with variable foci db key
described as focal or partial, which means they begin in one region of the brain related-gene gene-symbol ghr-page GTR C4310708
and do not cause a loss of consciousness. In more than 70 percent of affected NPRL3 https://ghr.nlm.nih.gov/gene/NPRL3 db key
individuals, these seizures begin in one of two areas of the brain, either the GTR C4310709
temporal lobe or the frontal lobe. The region of the brain where the seizures db key
start tends to stay the same over time. In rare instances, seizure activity that GeneReviews depdc5-epilepsy
starts in one area spreads to affect the entire brain and causes a loss of db key
consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as MeSH D004828
partial seizures and spread throughout the brain are known as secondarily db key
generalized seizures. OMIM 604364
html:p Among family members with FFEVF, individuals may not have the same brain region db key
affected (variable foci), meaning that one person's seizures may not begin in OMIM 617116
the same part of the brain as their affected relative. db key
html:p Some individuals with FFEVF also have a brain malformation called focal cortical OMIM 617118
dysplasia. Seizures in these individuals are typically not well-controlled with db key
medication. Orphanet 98820
html:p Most people with FFEVF are intellectually normal, and there are no problems with
their brain function between seizures. However, some people with FFEVF have
developed psychiatric disorders (such as schizophrenia), behavioral problems, or
intellectual disability. It is unclear whether these additional features are
directly related to epilepsy in these individuals.
related-gene-list
Familial glucocorticoid deficiency https://ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency The prevalence of familial glucocorticoid deficiency is unknown. html:p Familial glucocorticoid deficiency is a condition that occurs when the adrenal ar autosomal recessive MC2R https://ghr.nlm.nih.gov/gene/MC2R ACTH resistance db key 2015-02 2017-12-29
ACTH Resistance syndrome glands, which are hormone-producing glands located on top of each kidney, do not related-gene gene-symbol ghr-page adrenal unresponsiveness to ACTH GTR C1836621
腎上腺皮促素抗性症候群 produce certain hormones called glucocorticoids. These hormones, which include MCM4 https://ghr.nlm.nih.gov/gene/MCM4 glucocorticoid deficiency db key
cortisol and corticosterone, aid in immune system function, play a role in related-gene gene-symbol ghr-page hereditary unresponsiveness to adrenocorticotropic hormone GTR C1846284
maintaining normal blood sugar levels, help trigger nerve cell signaling in the MRAP https://ghr.nlm.nih.gov/gene/MRAP isolated glucocorticoid deficiency db key
brain, and serve many other purposes in the body. related-gene gene-symbol ghr-page GTR C1859974
html:p A shortage of adrenal hormones (adrenal insufficiency) causes the signs and NNT https://ghr.nlm.nih.gov/gene/NNT db key
symptoms of familial glucocorticoid deficiency. These signs and symptoms often related-gene gene-symbol ghr-page GTR C1864947
begin in infancy or early childhood. Most affected children first develop low TXNRD2 https://ghr.nlm.nih.gov/gene/TXNRD2 db key
blood sugar (hypoglycemia). These hypoglycemic children can fail to grow and GTR C3553587
gain weight at the expected rate (failure to thrive). If left untreated, db key
hypoglycemia can lead to seizures, learning difficulties, and other neurological MeSH D000309
problems. Hypoglycemia that is left untreated for prolonged periods can lead to db key
neurological damage and death. Other features of familial glucocorticoid OMIM 202200
deficiency can include recurrent infections and skin coloring darker than that db key
of other family members (hyperpigmentation). OMIM 607398
html:p There are multiple types of familial glucocorticoid deficiency, which are db key
distinguished by their genetic cause. OMIM 609197
db key
OMIM 609981
db key
OMIM 614736
db key
Orphanet 361
db key
related-gene-list SNOMED CT 71974009
Familial HDL deficiency https://ghr.nlm.nih.gov/condition/familial-hdl-deficiency Familial HDL deficiency is a rare disorder, although the prevalence is html:p Familial HDL deficiency is a condition characterized by low levels of ad autosomal dominant ABCA1 https://ghr.nlm.nih.gov/gene/ABCA1 familial hypoalphalipoproteinemia db key 2012-11 2017-12-29
家族性高密度脂蛋白缺乏 unknown. high-density lipoprotein (HDL) in the blood. HDL is a molecule that transports related-gene gene-symbol ghr-page FHA GTR C1704429
cholesterol and certain fats called phospholipids through the bloodstream from APOA1 https://ghr.nlm.nih.gov/gene/APOA1 HDL deficiency, type 2 db key
the body's tissues to the liver. Once in the liver, cholesterol and HDLD MeSH D052456
phospholipids are redistributed to other tissues or removed from the body. HDL low serum HDL cholesterol db key
is often referred to as "good cholesterol" because high levels of this substance primary hypoalphalipoproteinemia OMIM 604091
reduce the chances of developing heart and blood vessel (cardiovascular) db key
disease. People with familial HDL deficiency may develop cardiovascular disease SNOMED CT 15346004
at a relatively young age, often before age 50. db key
html:p Severely reduced levels of HDL in the blood is a characteristic feature of a SNOMED CT 190785000
related disorder called Tangier disease. People with Tangier disease have
additional signs and symptoms, such as disturbances in nerve function; enlarged,
orange-colored tonsils; and clouding of the clear covering of the eye (corneal
clouding). However, people with familial HDL deficiency do not have these
additional features.
related-gene-list
Familial hemiplegic migraine https://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine The worldwide prevalence of familial hemiplegic migraine is unknown. html:p Familial hemiplegic migraine is a form of migraine headache that runs in ad autosomal dominant ATP1A2 https://ghr.nlm.nih.gov/gene/ATP1A2 hemiplegic migraine, familial db key 2014-01 2017-12-29
家族性偏瘫性偏头痛 Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic families. Migraines usually cause intense, throbbing pain in one area of the related-gene gene-symbol ghr-page hemiplegic-ophthalmoplegic migraine GTR C0338484
(Headache) migraine and that the condition occurs equally in families with multiple head, often accompanied by nausea, vomiting, and extreme sensitivity to light CACNA1A https://ghr.nlm.nih.gov/gene/CACNA1A db key
affected individuals (familial hemiplegic migraine) and in individuals with no and sound. These recurrent headaches typically begin in childhood or adolescence related-gene gene-symbol ghr-page GTR C1832894
family history of the condition (sporadic hemiplegic migraine). Like other forms and can be triggered by certain foods, emotional stress, and minor head trauma. PRRT2 https://ghr.nlm.nih.gov/gene/PRRT2 db key
of migraine, familial hemiplegic migraine affects females more often than Each headache may last from a few hours to a few days. related-gene gene-symbol ghr-page GTR C1864987
males. html:p In some types of migraine, including familial hemiplegic migraine, a pattern of SCN1A https://ghr.nlm.nih.gov/gene/SCN1A db key
neurological symptoms called an aura precedes the headache. The most common GTR C1865322
symptoms associated with an aura are temporary visual changes such as blind db key
spots (scotomas), flashing lights, zig-zagging lines, and double vision. In GeneReviews fhm
people with familial hemiplegic migraine, auras are also characterized by db key
temporary numbness or weakness, often affecting one side of the body ICD-10-CM G43.409
(hemiparesis). Additional features of an aura can include difficulty with db key
speech, confusion, and drowsiness. An aura typically develops gradually over a MeSH D020325
few minutes and lasts about an hour. db key
html:p Unusually severe migraine episodes have been reported in some people with OMIM 141500
familial hemiplegic migraine. These episodes have included fever, seizures, db key
prolonged weakness, coma, and, rarely, death. Although most people with familial OMIM 602481
hemiplegic migraine recover completely between episodes, neurological symptoms db key
such as memory loss and problems with attention can last for weeks or months. OMIM 609634
About 20 percent of people with this condition develop mild but permanent db key
difficulty coordinating movements (ataxia), which may worsen with time, and Orphanet 569
rapid, involuntary eye movements called nystagmus. db key
related-gene-list SNOMED CT 95656000
Familial hemophagocytic lymphohistiocytosis https://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in html:p Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune ar autosomal recessive PRF1 https://ghr.nlm.nih.gov/gene/PRF1 familial erythrophagocytic lymphohistiocytosis db key 2014-11 2017-12-29
家族性噬血细胞性淋巴组织细胞增多症 50,000 individuals worldwide. system produces too many activated immune cells (lymphocytes) called T cells, related-gene gene-symbol ghr-page familial hemophagocytic histiocytosis GTR C0272199
(Immune) natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts STX11 https://ghr.nlm.nih.gov/gene/STX11 familial hemophagocytic lymphocytosis db key
of immune system proteins called cytokines are also produced. This related-gene gene-symbol ghr-page familial hemophagocytic reticulosis GTR C1837174
overactivation of the immune system causes fever and damages the liver and STXBP2 https://ghr.nlm.nih.gov/gene/STXBP2 FEL db key
spleen, resulting in enlargement of these organs. related-gene gene-symbol ghr-page FHL GTR C1863727
html:p Familial hemophagocytic lymphohistiocytosis also destroys blood-producing cells UNC13D https://ghr.nlm.nih.gov/gene/UNC13D FHLH db key
in the bone marrow, a process called hemophagocytosis. As a result, affected hemophagocytic syndrome GTR C1863728
individuals have low numbers of red blood cells (anemia) and a reduction in the HPLH db key
number of platelets, which are involved in clotting. A reduction in platelets primary hemophagocytic hymphohistiocytosis GTR C2751293
may cause easy bruising and abnormal bleeding. db key
html:p The brain may also be affected in familial hemophagocytic lymphohistiocytosis. GTR CN034020
As a result, affected individuals may experience irritability, delayed closure db key
of the bones of the skull in infants, neck stiffness, abnormal muscle tone, GeneReviews hlh
impaired muscle coordination, paralysis, blindness, seizures, and coma. In db key
addition to neurological problems, familial hemophagocytic lymphohistiocytosis ICD-10-CM D76.1
can cause abnormalities of the heart, kidneys, and other organs and tissues. db key
Affected individuals also have an increased risk of developing cancers of MeSH D051359
blood-forming cells (leukemia and lymphoma). db key
html:p Signs and symptoms of familial hemophagocytic lymphohistiocytosis usually become OMIM 267700
worth include in prenatal test apparent during infancy, although occasionally they appear later in life. They db key
usually occur when the immune system launches an exaggerated response to an OMIM 603552
infection, but may also occur in the absence of infection. Without treatment, db key
most people with familial hemophagocytic lymphohistiocytosis survive only a few OMIM 603553
months. db key
OMIM 608898
db key
OMIM 613101
db key
Orphanet 540
db key
related-gene-list SNOMED CT 398250003
Familial hyperaldosteronism https://ghr.nlm.nih.gov/condition/familial-hyperaldosteronism The prevalence of familial hyperaldosteronism is unknown. Familial html:p Familial hyperaldosteronism is a group of inherited conditions in which the ad autosomal dominant CYP11B1 https://ghr.nlm.nih.gov/gene/CYP11B1 familial primary aldosteronism db key 2014-04 2017-12-29
家族性醛固酮增多症 hyperaldosteronism type II appears to be the most common variety. All types of adrenal glands, which are small glands located on top of each kidney, produce related-gene gene-symbol ghr-page FH GTR C1260386
familial hyperaldosteronism combined account for fewer than 1 out of 10 cases of too much of the hormone aldosterone. Aldosterone helps control the amount of CYP11B2 https://ghr.nlm.nih.gov/gene/CYP11B2 hereditary aldosteronism db key
hyperaldosteronism. salt retained by the kidneys. Excess aldosterone causes the kidneys to retain related-gene gene-symbol ghr-page hyperaldosteronism, familial GTR C3150933
more salt than normal, which in turn increases the body's fluid levels and blood KCNJ5 https://ghr.nlm.nih.gov/gene/KCNJ5 db key
pressure. People with familial hyperaldosteronism may develop severe high blood ICD-10-CM E26.02
pressure (hypertension), often early in life. Without treatment, hypertension db key
increases the risk of strokes, heart attacks, and kidney failure. MeSH D006929
html:p Familial hyperaldosteronism is categorized into three types, distinguished by db key
their clinical features and genetic causes. In familial hyperaldosteronism type OMIM 103900
I, hypertension generally appears in childhood to early adulthood and can range db key
from mild to severe. This type can be treated with steroid medications called OMIM 605635
glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism db key
(GRA). In familial hyperaldosteronism type II, hypertension usually appears in OMIM 613677
early to middle adulthood and does not improve with glucocorticoid treatment. In db key
most individuals with familial hyperaldosteronism type III, the adrenal glands Orphanet 403
are enlarged up to six times their normal size. These affected individuals have db key
severe hypertension that starts in childhood. The hypertension is difficult to Orphanet 404
treat and often results in damage to organs such as the heart and kidneys. db key
Rarely, individuals with type III have milder symptoms with treatable Orphanet 251274
hypertension and no adrenal gland enlargement. db key
html:p There are other forms of hyperaldosteronism that are not familial. These SNOMED CT 703231005
conditions are caused by various problems in the adrenal glands or kidneys. In
some cases, a cause for the increase in aldosterone levels cannot be found.
related-gene-list
Familial hypertrophic cardiomyopathy https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy Familial hypertrophic cardiomyopathy affects an estimated 1 in 500 people html:p Familial hypertrophic cardiomyopathy is a heart condition characterized by ad autosomal dominant ACTC1 https://ghr.nlm.nih.gov/gene/ACTC1 familial asymmetric septal hypertrophy db key 2015-08 2017-12-29
家族性肥厚性心肌症 worldwide. It is the most common genetic heart disease in the United States. thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually related-gene gene-symbol ghr-page HCM GTR C1860752
（Heart Disease） occurs in the interventricular septum, which is the muscular wall that separates ACTN2 https://ghr.nlm.nih.gov/gene/ACTN2 hereditary ventricular hypertrophy db key
the lower left chamber of the heart (the left ventricle) from the lower right related-gene gene-symbol ghr-page heritable hypertrophic cardiomyopathy GTR C1861862
chamber (the right ventricle). In some people, thickening of the CALR3 https://ghr.nlm.nih.gov/gene/CALR3 idiopathic hypertrophic subaortic stenosis db key
interventricular septum impedes the flow of oxygen-rich blood from the heart, related-gene gene-symbol ghr-page GTR C1861864
which may lead to an abnormal heart sound during a heartbeat (heart murmur) and CSRP3 https://ghr.nlm.nih.gov/gene/CSRP3 db key
other signs and symptoms of the condition. Other affected individuals do not related-gene gene-symbol ghr-page GTR C3495498
have physical obstruction of blood flow, but the pumping of blood is less JPH2 https://ghr.nlm.nih.gov/gene/JPH2 db key
efficient, which can also lead to symptoms of the condition. Cardiac hypertrophy related-gene gene-symbol ghr-page GeneReviews hyper-card
often begins in adolescence or young adulthood, although it can develop at any MYBPC3 https://ghr.nlm.nih.gov/gene/MYBPC3 db key
time throughout life. related-gene gene-symbol ghr-page MeSH D024741
html:p The symptoms of familial hypertrophic cardiomyopathy are variable, even within MYH7 https://ghr.nlm.nih.gov/gene/MYH7 db key
the same family. Many affected individuals have no symptoms. Other people with related-gene gene-symbol ghr-page OMIM 115195
familial hypertrophic cardiomyopathy may experience chest pain; shortness of MYL2 https://ghr.nlm.nih.gov/gene/MYL2 db key
breath, especially with physical exertion; a sensation of fluttering or pounding related-gene gene-symbol ghr-page OMIM 115196
in the chest (palpitations); lightheadedness; dizziness; and fainting. MYL3 https://ghr.nlm.nih.gov/gene/MYL3 db key
html:p While most people with familial hypertrophic cardiomyopathy are symptom-free or related-gene gene-symbol ghr-page OMIM 115197
have only mild symptoms, this condition can have serious consequences. It can MYOZ2 https://ghr.nlm.nih.gov/gene/MYOZ2 db key
cause abnormal heart rhythms (arrhythmias) that may be life threatening. People related-gene gene-symbol ghr-page OMIM 192600
with familial hypertrophic cardiomyopathy have an increased risk of sudden NEXN https://ghr.nlm.nih.gov/gene/NEXN db key
death, even if they have no other symptoms of the condition. A small number of related-gene gene-symbol ghr-page OMIM 600858
affected individuals develop potentially fatal heart failure, which may require PLN https://ghr.nlm.nih.gov/gene/PLN db key
heart transplantation. related-gene gene-symbol ghr-page OMIM 608751
PRKAG2 https://ghr.nlm.nih.gov/gene/PRKAG2 db key
related-gene gene-symbol ghr-page OMIM 608758
TCAP https://ghr.nlm.nih.gov/gene/TCAP db key
related-gene gene-symbol ghr-page OMIM 612098
TNNI3 https://ghr.nlm.nih.gov/gene/TNNI3 db key
related-gene gene-symbol ghr-page OMIM 612124
TNNT2 https://ghr.nlm.nih.gov/gene/TNNT2 db key
related-gene gene-symbol ghr-page OMIM 613243
TPM1 https://ghr.nlm.nih.gov/gene/TPM1 db key
related-gene gene-symbol ghr-page OMIM 613251
TTN https://ghr.nlm.nih.gov/gene/TTN db key
related-gene gene-symbol ghr-page OMIM 613255
VCL https://ghr.nlm.nih.gov/gene/VCL db key
OMIM 613690
db key
OMIM 613765
db key
OMIM 613838
db key
OMIM 613873
db key
OMIM 613874
db key
OMIM 613875
db key
OMIM 613876
db key
OMIM 614676
db key
Orphanet 99739
db key
SNOMED CT 360465008
db key
related-gene-list SNOMED CT 83978005
Familial hypobetalipoproteinemia https://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia FHBL is estimated to occur in 1 in 1,000 to 3,000 individuals. html:p Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ac autosomal codominant ANGPTL3 https://ghr.nlm.nih.gov/gene/ANGPTL3 FHBL db key 2012-08 2017-12-29
家族性β-脂蛋白过少血症 ability to absorb and transport fats. This condition is characterized by low related-gene gene-symbol ghr-page hypobetalipoproteinemia GTR C1857970
levels of a fat-like substance called cholesterol in the blood. The severity of APOB https://ghr.nlm.nih.gov/gene/APOB db key
signs and symptoms experienced by people with FHBL vary widely. The most mildly related-gene gene-symbol ghr-page GTR C1862596
affected individuals have few problems with absorbing fats from the diet and no PCSK9 https://ghr.nlm.nih.gov/gene/PCSK9 db key
related signs and symptoms. Many individuals with FHBL develop an abnormal ICD-10-CM E78.6
buildup of fats in the liver called hepatic steatosis or fatty liver. In more db key
severely affected individuals, fatty liver may progress to chronic liver disease MeSH D006995
(cirrhosis). Individuals with severe FHBL have greater difficulty absorbing db key
fats as well as fat-soluble vitamins such as vitamin E and vitamin A. This OMIM 107730
difficulty in fat absorption leads to excess fat in the feces (steatorrhea). In db key
childhood, these digestive problems can result in an inability to grow or gain OMIM 605019
weight at the expected rate (failure to thrive). db key
Orphanet 426
db key
SNOMED CT 190786004
db key
SNOMED CT 238093009
db key
SNOMED CT 238094003
Familial hypoplastic, glomerulocystic kidney
db key
related-gene-list SNOMED CT 60193003
Familial idiopathic basal ganglia calcification https://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcificatio FIBGC is thought to be a rare disorder; about 60 affected families have html:p Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr ad autosomal dominant PDGFRB https://ghr.nlm.nih.gov/gene/PDGFRB bilateral striopallidodentate calcinosis db key 2013-02 2017-12-29
n been described in the medical literature. However, because brain imaging tests disease) is a condition characterized by abnormal deposits of calcium related-gene gene-symbol ghr-page cerebrovascular ferrocalcinosis GTR C0393590
are needed to recognize the calcium deposits, this condition is believed to be (calcification) in the brain. These calcium deposits typically occur in the SLC20A2 https://ghr.nlm.nih.gov/gene/SLC20A2 FIBGC db key
underdiagnosed. basal ganglia, which are structures deep within the brain that help start and striopallidodentate calcinosis GTR C1847731
control movement; however, other brain regions can also be affected. db key
html:p The signs and symptoms of FIBGC include movement disorders and psychiatric or GTR C3554321
behavioral difficulties. These problems begin in adulthood, usually in a db key
person's thirties. The movement difficulties experienced by people with FIBGC GeneReviews bgc
include involuntary tensing of various muscles (dystonia), problems coordinating db key
movements (ataxia), and uncontrollable movements of the limbs MeSH D001480
(choreoathetosis). Affected individuals often have seizures as well. The db key
psychiatric and behavioral problems include difficulty concentrating, memory OMIM 213600
loss, changes in personality, a distorted view of reality (psychosis), and db key
decline in intellectual function (dementia). An estimated 20 to 30 percent of OMIM 606656
people with FIBGC have one of these psychiatric disorders. db key
html:p The severity of this condition varies among affected individuals; some people OMIM 615007
have no symptoms related to the brain calcification, whereas other people have db key
significant movement and psychiatric problems. Orphanet 1980
db key
related-gene-list SNOMED CT 110997000
Familial isolated hyperparathyroidism https://ghr.nlm.nih.gov/condition/familial-isolated-hyperparathyroidism The prevalence of familial isolated hyperparathyroidism is unknown. html:p Familial isolated hyperparathyroidism is an inherited condition characterized by ad autosomal dominant CASR https://ghr.nlm.nih.gov/gene/CASR FIHP db key 2012-08 2017-12-29
overactivity of the parathyroid glands (hyperparathyroidism). The four related-gene gene-symbol ghr-page hyperparathyroidism 1 GTR C1840402
parathyroid glands are located in the neck, and they release a hormone called CDC73 https://ghr.nlm.nih.gov/gene/CDC73 db key
parathyroid hormone that regulates the amount of calcium in the blood. In related-gene gene-symbol ghr-page GeneReviews hrpt2
familial isolated hyperparathyroidism, one or more overactive parathyroid glands MEN1 https://ghr.nlm.nih.gov/gene/MEN1 db key
release excess parathyroid hormone, which causes the levels of calcium in the ICD-10-CM E21.0
blood to rise (hypercalcemia). Parathyroid hormone stimulates the removal of db key
calcium from bone and the absorption of calcium from the diet, and the mineral MeSH D049950
is then released into the bloodstream. db key
html:p In people with familial isolated hyperparathyroidism, the production of excess OMIM 145000
parathyroid hormone is caused by tumors that involve the parathyroid glands. db key
Typically only one of the four parathyroid glands is affected, but in some Orphanet 99879
people, more than one gland develops a tumor. The tumors are usually db key
noncancerous (benign), in which case they are called adenomas. Rarely, people SNOMED CT 237653008
with familial isolated hyperparathyroidism develop a cancerous tumor called
parathyroid carcinoma. Because the production of excess parathyroid hormone is
caused by abnormalities of the parathyroid glands, familial isolated
hyperparathyroidism is considered a form of primary hyperparathyroidism.
html:p Disruption of the normal calcium balance resulting from overactive parathyroid
glands causes many of the common signs and symptoms of familial isolated
hyperparathyroidism, such as kidney stones, nausea, vomiting, high blood
pressure (hypertension), weakness, and fatigue. Because calcium is removed from
bones to be released into the bloodstream, hyperparathyroidism often causes
thinning of the bones (osteoporosis). The age at which familial isolated
hyperparathyroidism is diagnosed varies from childhood to adulthood. Often, the
first indication of the condition is elevated calcium levels identified through
a routine blood test, even though the affected individual may not yet have signs
or symptoms of hyperparathyroidism or hypercalcemia.
related-gene-list
Familial isolated pituitary adenoma https://ghr.nlm.nih.gov/condition/familial-isolated-pituitary-adenoma Pituitary adenomas, including sporadic tumors, are relatively common; they html:p Familial isolated pituitary adenoma (FIPA) is an inherited condition ad autosomal dominant AIP https://ghr.nlm.nih.gov/gene/AIP FIPA db key 2013-08 2017-12-29
家族性脑垂体瘤 are identified in an estimated 1 in 1,000 people. FIPA, though, is quite rare, characterized by development of a noncancerous tumor in the pituitary gland GTR CN169290
accounting for approximately 2 percent of pituitary adenomas. More than 200 (called a pituitary adenoma). The pituitary gland, which is found at the base of db key
families with FIPA have been described in the medical literature. the brain, produces hormones that control many important body functions. GeneReviews ipa
html:p Tumors that form in the pituitary gland can release excess levels of one or more db key
hormones, although some tumors do not produce hormones (nonfunctioning MeSH D010911
pituitary adenomas). Those that do are typically distinguished by the particular db key
hormones they produce. Prolactinomas are the most common tumors in FIPA. These OMIM 102200
tumors release prolactin, a hormone that stimulates breast milk production in db key
females. Both women and men can develop prolactinomas, although they are more Orphanet 314777
common in women. In women, these tumors may lead to changes in the menstrual db key
cycle or difficulty becoming pregnant. Some affected women may produce breast SNOMED CT 702375004
milk, even though they are not pregnant or nursing. In men, prolactinomas may
cause erectile dysfunction or decreased interest in sex. Rarely, affected men
produce breast milk. Large prolactinomas can press on nearby tissues such as the
nerves that carry information from the eyes to the brain (the optic nerves),
causing problems with vision.
html:p Another type of tumor called somatotropinoma is also common in FIPA. These
tumors release growth hormone (also called somatotropin), which promotes growth
of the body. Somatotropinomas in children or adolescents can lead to increased
height (gigantism), because the long bones of their arms and legs are still
growing. In adults, growth of the long bones has stopped, but the tumors can
cause overgrowth of the hands, feet, and face (acromegaly) as well as other
tissues.
html:p Less common tumor types in FIPA include somatolactotropinomas, nonfunctioning
pituitary adenomas, adrenocorticotropic hormone-secreting tumors (which cause a
condition known as Cushing disease), thyrotropinomas, and gonadotropinomas. In a
family with the condition, affected members can develop the same type of tumor
(homogenous FIPA) or different types (heterogenous FIPA).
html:p In FIPA, pituitary tumors usually occur at a younger age than sporadic pituitary
adenomas, which are not inherited. In general, FIPA tumors are also larger than
sporadic pituitary tumors. Often, people with FIPA have macroadenomas, which
are tumors larger than 10 millimeters.
html:p Familial pituitary adenomas can occur as one of many features in other inherited
conditions such as multiple endocrine neoplasia type 1 and Carney complex;
however, in FIPA, the pituitary adenomas are described as isolated because only
the pituitary gland is affected.
related-gene-list
Familial lipoprotein lipase deficiency https://ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency This condition affects about 1 per million people worldwide. It is much html:p Familial lipoprotein lipase deficiency is an inherited condition that disrupts ar autosomal recessive LPL https://ghr.nlm.nih.gov/gene/LPL Burger-Grutz syndrome db key 2015-02 2017-12-29
familial hyperchylomicronemia more common in certain areas of the province of Quebec, Canada. the normal breakdown of fats in the body, resulting in an increase of certain endogenous hypertriglyceridaemia GTR C0023817
家族性高乳糜微粒血症 kinds of fats. familial fat-induced hypertriglyceridemia db key
html:p People with familial lipoprotein lipase deficiency typically develop signs and familial hyperchylomicronemia GeneReviews lpl
symptoms before age 10, with one-quarter showing symptoms by age 1. The first familial LPL deficiency db key
symptom of this condition is usually abdominal pain, which can vary from mild to hyperlipoproteinemia type I ICD-10-CM E78.3
severe. The abdominal pain is often due to inflammation of the pancreas hyperlipoproteinemia type Ia db key
(pancreatitis). These episodes of pancreatitis begin as sudden (acute) attacks. lipase D deficiency MeSH D008072
If left untreated, pancreatitis can develop into a chronic condition that can LIPD deficiency db key
damage the pancreas and, in rare cases, be life-threatening. lipoprotein lipase deficiency, familial OMIM 238600
html:p Affected individuals may also have an enlarged liver and spleen db key
(hepatosplenomegaly). The higher the levels of fat in the body, the larger the Orphanet 444490
liver and spleen become. As fat levels rise, certain white blood cells called db key
macrophages take in excess fat in an attempt to rid fat from the bloodstream. SNOMED CT 238086005
After taking in fat, the macrophages travel to the liver and spleen, where the db key
fatty cells accumulate. SNOMED CT 267435002
html:p Approximately half of individuals with familial lipoprotein lipase deficiency db key
develop small yellow deposits of fat under the skin called eruptive xanthomas. SNOMED CT 275598004
These fat deposits most commonly appear on the trunk, buttocks, knees, and arms. db key
Eruptive xanthomas are small (about 1 millimeter in diameter), but individual SNOMED CT 403827000
xanthomas can cluster together to form larger patches. They are generally not
painful unless exposed to repeated friction or abrasion. Eruptive xanthomas
begin to appear when fat intake increases and levels rise; the deposits
disappear when fat intake slows and levels decrease.
html:p The blood of people with familial lipoprotein lipase deficiency can have a milky
appearance due to its high fat content. When fat levels get very high in people
with this condition, fats can accumulate in blood vessels in the tissue that
lines the back of the eye (the retina). The fat buildup gives this tissue a pale
pink appearance when examined (lipemia retinalis). This fat accumulation does
not affect vision and will disappear once fats from the diet are reduced and
levels in the body decrease.
html:p In people with familial lipoprotein lipase deficiency, increased fat levels can
also cause neurological features, such as depression, memory loss, and mild
intellectual decline (dementia). These problems are remedied when dietary fat
levels normalize.
Familial Hypokalemia
家族性低血鉀症
related-gene-list
Familial male-limited precocious puberty https://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty Familial male-limited precocious puberty is a rare disorder; its prevalence html:p Familial male-limited precocious puberty is a condition that causes early sexual ad autosomal dominant LHCGR https://ghr.nlm.nih.gov/gene/LHCGR familial gonadotrophin-independent sexual precocity db key 2012-08 2017-12-29
is unknown. development in males; females are not affected. Boys with this disorder begin GIPP GTR C0342549
exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. gonadotrophin-independent precocious puberty db key
Signs of male puberty include a deepening voice, acne, increased body hair, precocious pseudopuberty ICD-10-CM E29.0
underarm odor, growth of the penis and testes, and spontaneous erections. pubertas praecox db key
Changes in behavior, such as increased aggression and early interest in sex, may testotoxicosis MeSH D011629
also occur. Without treatment, affected boys grow quickly at first, but they db key
stop growing earlier than usual. As a result, they tend to be shorter in OMIM 176410
adulthood compared with other members of their family. db key
Orphanet 3000
db key
related-gene-list SNOMED CT 237818003
Familial Mediterranean fever https://ghr.nlm.nih.gov/condition/familial-mediterranean-fever Familial Mediterranean fever primarily affects populations originating in html:p Familial Mediterranean fever is an inherited condition characterized by ad autosomal dominant MEFV https://ghr.nlm.nih.gov/gene/MEFV benign paroxysmal peritonitis db key 2014-06 2017-12-29
家族性地中海熱 the Mediterranean region, particularly people of Armenian, Arab, Turkish, or recurrent episodes of painful inflammation in the abdomen, chest, or joints. code memo related-gene gene-symbol ghr-page familial paroxysmal polyserositis GTR C0031069
Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these These episodes are often accompanied by fever and sometimes a rash or headache. ar autosomal recessive SAA1 https://ghr.nlm.nih.gov/gene/SAA1 FMF db key
populations. It is less common in other populations. Occasionally inflammation may occur in other parts of the body, such as the MEF GeneReviews fmf
heart; the membrane surrounding the brain and spinal cord; and in males, the recurrent polyserositis db key
testicles. In about half of affected individuals, attacks are preceded by mild Reimann periodic disease ICD-10-CM E85.0
signs and symptoms known as a prodrome. Prodromal symptoms include mildly Siegal-Cattan-Mamou disease db key
uncomfortable sensations in the area that will later become inflamed, or more Wolff periodic disease MeSH D010505
general feelings of discomfort. db key
html:p The first episode of illness in familial Mediterranean fever usually occurs in OMIM 249100
childhood or the teenage years, but in some cases, the initial attack occurs db key
much later in life. Typically, episodes last 12 to 72 hours and can vary in Orphanet 342
severity. The length of time between attacks is also variable and can range from db key
days to years. During these periods, affected individuals usually have no signs SNOMED CT 12579009
or symptoms related to the condition. However, without treatment to help
prevent attacks and complications, a buildup of protein deposits (amyloidosis)
in the body's organs and tissues may occur, especially in the kidneys, which can
lead to kidney failure.
related-gene-list
Familial osteochondritis dissecans https://ghr.nlm.nih.gov/condition/familial-osteochondritis-dissecans Familial osteochondritis dissecans is a rare condition, although the html:p Familial osteochondritis dissecans is a condition that affects the joints and is ad autosomal dominant ACAN https://ghr.nlm.nih.gov/gene/ACAN fOCD db key 2012-10 2017-12-29
家族性剥脱性骨软骨炎 prevalence is unknown. Sporadic osteochondritis dissecans is more common; it is associated with abnormal cartilage. Cartilage is a tough but flexible tissue OCD GTR C0029421
estimated to occur in the knee in 15 to 29 per 100,000 individuals. that covers the ends of the bones at joints and is also part of the developing OD db key
skeleton. A characteristic feature of familial osteochondritis dissecans is osteochondritis dissecans, short stature, and early-onset osteoarthritis ICD-10-CM M93.2
areas of bone damage (lesions) caused by detachment of cartilage and a piece of db key
the underlying bone from the end of the bone at a joint. People with this ICD-10-CM M93.20
condition develop multiple lesions that affect several joints, primarily the db key
knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling ICD-10-CM M93.21
in the joint. Often, the affected joint feels like it catches or locks during db key
movement. Other characteristic features of familial osteochondritis dissecans ICD-10-CM M93.22
include short stature and development of a joint disorder called osteoarthritis db key
at an early age. Osteoarthritis is characterized by the breakdown of joint ICD-10-CM M93.23
cartilage and the underlying bone. It causes pain and stiffness and restricts db key
the movement of joints. ICD-10-CM M93.24
html:p A similar condition called sporadic osteochondritis dissecans is associated with db key
a single lesion in one joint, most often the knee. These cases may be caused by ICD-10-CM M93.25
injury to or repetitive use of the joint (often sports-related). Some people db key
with sporadic osteochondritis dissecans develop osteoarthritis in the affected ICD-10-CM M93.26
joint, especially if the lesion occurs later in life after the bone has stopped db key
growing. Short stature is not associated with this form of the condition. ICD-10-CM M93.27
db key
ICD-10-CM M93.28
db key
ICD-10-CM M93.29
db key
ICD-10-CM M93.211
db key
ICD-10-CM M93.212
db key
ICD-10-CM M93.219
db key
ICD-10-CM M93.221
db key
ICD-10-CM M93.222
db key
ICD-10-CM M93.229
db key
ICD-10-CM M93.231
db key
ICD-10-CM M93.232
db key
ICD-10-CM M93.239
db key
ICD-10-CM M93.241
db key
ICD-10-CM M93.242
db key
ICD-10-CM M93.249
db key
ICD-10-CM M93.251
db key
ICD-10-CM M93.252
db key
ICD-10-CM M93.259
db key
ICD-10-CM M93.261
db key
ICD-10-CM M93.262
db key
ICD-10-CM M93.269
db key
ICD-10-CM M93.271
db key
ICD-10-CM M93.272
db key
ICD-10-CM M93.279
db key
MeSH D010008
db key
OMIM 165800
db key
Orphanet 251262
db key
related-gene-list SNOMED CT 82562007
Familial paroxysmal kinesigenic dyskinesia https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia Familial paroxysmal kinesigenic dyskinesia is estimated to occur in 1 in html:p Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by ad autosomal dominant PRRT2 https://ghr.nlm.nih.gov/gene/PRRT2 dystonia 10 db key 2014-01 2017-12-29
陣發性動作手足舞蹈徐動症 150,000 individuals. For unknown reasons, this condition affects more males than episodes of abnormal movement that range from mild to severe. In the condition episodic kinesigenic dyskinesia GTR C1868682
females. name, the word paroxysmal indicates that the abnormal movements come and go over familial paroxysmal dystonia db key
time, kinesigenic means that episodes are triggered by movement, and dyskinesia paroxysmal kinesigenic choreoathetosis GeneReviews pknd
refers to involuntary movement of the body. paroxysmal kinesigenic dyskinesia db key
html:p People with familial paroxysmal kinesigenic dyskinesia experience episodes of MeSH D020820
irregular jerking or shaking movements that are induced by sudden motion, such db key
as standing up quickly or being startled. An episode may involve slow, prolonged OMIM 128200
muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); db key
writhing movements of the limbs (athetosis); or, rarely, flailing movements of Orphanet 31709
the limbs (ballismus). Familial paroxysmal kinesigenic dyskinesia may affect one db key
or both sides of the body. The type of abnormal movement varies among affected Orphanet 98809
individuals, even among members of the same family. In many people with familial db key
paroxysmal kinesigenic dyskinesia, a pattern of symptoms called an aura SNOMED CT 609221008
immediately precedes the episode. The aura is often described as a crawling or
tingling sensation in the affected body part. Individuals with this condition do
not lose consciousness during an episode and do not experience any symptoms
between episodes.
html:p Individuals with familial paroxysmal kinesigenic dyskinesia usually begin to
show signs and symptoms of the disorder during childhood or adolescence.
Episodes typically last less than five minutes, and the frequency of episodes
ranges from one per month to 100 per day. In most affected individuals, episodes
occur less often with age.
html:p In some people with familial paroxysmal kinesigenic dyskinesia the disorder
begins in infancy with recurring seizures called benign infantile convulsions.
These seizures usually develop in the first year of life and stop by age 3. When
benign infantile convulsions are associated with familial paroxysmal
kinesigenic dyskinesia, the condition is known as infantile convulsions and
choreoathetosis (ICCA). In families with ICCA, some individuals develop only
benign infantile convulsions, some have only familial paroxysmal kinesigenic
dyskinesia, and others develop both.
related-gene-list
Familial paroxysmal nonkinesigenic dyskinesia https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia Familial paroxysmal nonkinesigenic dyskinesia is a very rare disorder. Its html:p Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous ad autosomal dominant PNKD https://ghr.nlm.nih.gov/gene/PNKD familial paroxysmal choreoathetosis db key 2017-08 2017-12-29
家族性陣發性非動作誘發型運動困難 prevalence is estimated to be 1 in 5 million people. system that causes episodes of involuntary movement. Paroxysmal indicates that Mount-Reback syndrome GTR C1869117
the abnormal movements come and go over time. Nonkinesigenic means that episodes nonkinesigenic choreoathetosis db key
are not triggered by sudden movement. Dyskinesia broadly refers to involuntary paroxysmal dystonic choreoathetosis GTR C1970149
movement of the body. paroxysmal nonkinesigenic dyskinesia db key
html:p People with familial paroxysmal nonkinesigenic dyskinesia experience episodes of PDC GeneReviews pnknd
abnormal movement that are brought on by alcohol, caffeine, stress, fatigue, PNKD db key
menses, or excitement or develop without a known cause. Episodes are not induced MeSH D020820
by exercise or sudden movement and do not occur during sleep. An episode is db key
characterized by irregular, jerking or shaking movements that range from mild to OMIM 118800
severe. In this disorder, the dyskinesia can include slow, prolonged db key
contraction of muscles (dystonia); small, fast, "dance-like" motions (chorea); OMIM 611147
writhing movements of the limbs (athetosis); and, rarely, flailing movements of db key
the limbs (ballismus). The dyskinesia also affects muscles in the torso and SNOMED CT 609218006
face. The type of abnormal movement varies among affected individuals, even
among affected members of the same family. Individuals with familial paroxysmal
nonkinesigenic dyskinesia do not lose consciousness during an episode. Most
people do not experience any neurological symptoms between episodes.
html:p Individuals with familial paroxysmal nonkinesigenic dyskinesia usually begin to
show signs and symptoms of the disorder during childhood or their early teens.
Episodes typically last 1 to 4 hours, and the frequency of episodes ranges from
several per day to one per year. In some affected individuals, episodes occur
less often with age.
related-gene-list
Familial partial lipodystrophy https://ghr.nlm.nih.gov/condition/familial-partial-lipodystrophy Familial partial lipodystrophy is a rare disease, affecting an estimated 1 html:p Familial partial lipodystrophy is a rare condition characterized by an abnormal ad autosomal dominant ADRA2A https://ghr.nlm.nih.gov/gene/ADRA2A Dunnigan-Kobberling syndrome db key 2016-09 2017-12-29
家族性部分脂肪代谢障碍 in 1 million people overall. Type 2 is the most common form, with more than 500 distribution of fatty (adipose) tissue. Adipose tissue is normally found in many code memo related-gene gene-symbol ghr-page FPL GTR C0271694
cases reported in the medical literature. Women tend to be diagnosed with parts of the body, including beneath the skin and surrounding the internal ar autosomal recessive AKT2 https://ghr.nlm.nih.gov/gene/AKT2 Kobberling-Dunnigan syndrome db key
familial partial lipodystrophy more often than men, probably because a loss of organs. It stores fat as a source of energy and also provides cushioning. In related-gene gene-symbol ghr-page lipodystrophy, familial partial GTR C1720859
fat from the hips and limbs is more easily recognized in women, and people with familial partial lipodystrophy, adipose tissue is lost from the CIDEC https://ghr.nlm.nih.gov/gene/CIDEC db key
complications such as diabetes and hypertriglyceridemia occur more commonly in arms, legs, and hips, giving these parts of the body a very muscular appearance. related-gene gene-symbol ghr-page GTR C1720860
women. The fat that cannot be stored in the limbs builds up around the face and neck, LIPE https://ghr.nlm.nih.gov/gene/LIPE db key
and inside the abdomen. Excess fat in these areas gives individuals an related-gene gene-symbol ghr-page GTR C1720861
appearance described as "cushingoid," because it resembles the physical features LMNA https://ghr.nlm.nih.gov/gene/LMNA db key
associated with a hormonal disorder called Cushing disease. This abnormal fat related-gene gene-symbol ghr-page GTR C3151268
distribution can begin anytime from childhood to adulthood. PLIN1 https://ghr.nlm.nih.gov/gene/PLIN1 db key
html:p Abnormal storage of fat in the body can lead to health problems in adulthood. related-gene gene-symbol ghr-page GTR C3808940
Many people with familial partial lipodystrophy develop insulin resistance, a PPARG https://ghr.nlm.nih.gov/gene/PPARG db key
condition in which the body's tissues cannot adequately respond to insulin, GTR C4014869
which is a hormone that normally helps to regulate blood sugar levels. Insulin db key
resistance may worsen to become a more serious disease called diabetes mellitus. MeSH D052496
Some people with familial partial lipodystrophy develop acanthosis nigricans, a db key
skin condition related to high levels of insulin in the bloodstream. Acanthosis OMIM 151660
nigricans causes the skin in body folds and creases to become thick, dark, and db key
velvety. OMIM 604367
html:p Most people with familial partial lipodystrophy also have high levels of fats db key
called triglycerides circulating in the bloodstream (hypertriglyceridemia), OMIM 608600
which can lead to inflammation of the pancreas (pancreatitis). Familial partial db key
lipodystrophy can also cause an abnormal buildup of fats in the liver (hepatic OMIM 613877
steatosis), which can result in an enlarged liver (hepatomegaly) and abnormal db key
liver function. After puberty, some affected females develop multiple cysts on OMIM 615238
the ovaries, an increased amount of body hair (hirsutism), and an inability to db key
conceive (infertility), which are likely related to hormonal changes. OMIM 615980
html:p Researchers have described at least six forms of familial partial lipodystrophy, db key
which are distinguished by their genetic cause. The most common form of Orphanet 98306
familial partial lipodystrophy is type 2, also called Dunnigan disease. In db key
addition to the signs and symptoms described above, some people with this type SNOMED CT 49292002
of the disorder develop muscle weakness (myopathy), abnormalities of the heart
muscle (cardiomyopathy), a form of heart disease called coronary artery disease,
and problems with the electrical system that coordinates the heartbeat (the
conduction system).
related-gene-list
Familial pityriasis rubra pilaris https://ghr.nlm.nih.gov/condition/familial-pityriasis-rubra-pilaris Familial pityriasis rubra pilaris is a rare condition. Its incidence is html:p Familial pityriasis rubra pilaris is a rare genetic condition that affects the ad autosomal dominant CARD14 https://ghr.nlm.nih.gov/gene/CARD14 familial PRP db key 2013-03 2017-12-29
家族性毛孔性紅糠疹 unknown, although the familial form appears to be the least common type of skin. The name of the condition reflects its major features: The term GTR C0032027
(Skin) pityriasis rubra pilaris. "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests db key
the involvement of hair follicles in this disorder. Affected individuals have a ICD-10-CM L44.0
salmon-colored skin rash covered in fine scales. This rash occurs in patches all db key
over the body, with distinct areas of unaffected skin between the patches. MeSH D010916
Affected individuals also develop bumps called follicular keratoses that occur db key
around hair follicles. The skin on the palms of the hands and soles of the feet OMIM 173200
often becomes thick, hard, and callused, a condition known as palmoplantar db key
keratoderma. Orphanet 2897
html:p Researchers have distinguished six types of pityriasis rubra pilaris based on db key
the features of the disorder and the age at which signs and symptoms appear. The SNOMED CT 238622008
familial form is usually considered part of type V, which is also known as the
atypical juvenile type. People with familial pityriasis rubra pilaris typically
have skin abnormalities from birth or early childhood, and these skin problems
persist throughout life.
inheritance-pattern-list related-gene-list
Familial porencephaly https://ghr.nlm.nih.gov/condition/familial-porencephaly Familial porencephaly is a rare condition, although the exact prevalence is html:p Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. ad autosomal dominant COL4A1 synonym db-key db key 2011-09 2017-12-29
家族性腦穿通畸形 unknown. At least eight affected families have been described in the scientific The conditions in this group have a range of signs and symptoms that involve synonym GTR C1867983
literature. fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the synonym db-key db key
brain (porencephaly) during fetal development or soon after birth. These cysts GeneReviews col4a1-dis
typically occur in only one side of the brain and vary in size. The cysts are db-key db key
thought to be the result of bleeding within the brain (hemorrhagic stroke). ICD-10-CM Q04.6
People with this condition also have leukoencephalopathy, which is a change in db-key db key
a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). MeSH D065708
html:p During infancy, people with familial porencephaly typically have paralysis db-key db key
affecting one side of the body (infantile hemiplegia). Affected individuals may OMIM 175780
also have recurrent seizures (epilepsy), migraine headaches, speech problems, db-key db key
intellectual disability, and uncontrolled muscle tensing (dystonia). Some people Orphanet 99810
are severely affected, and others may have no symptoms related to the brain db-key db key
cysts. SNOMED CT 38353004
related-gene-list
Familial restrictive cardiomyopathy https://ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy The prevalence of familial restrictive cardiomyopathy is unknown. Although html:p Familial restrictive cardiomyopathy is a genetic form of heart disease. For the ad autosomal dominant ACTC1 https://ghr.nlm.nih.gov/gene/ACTC1 cardiomyopathy, restrictive db key 2011-01 2017-12-29
cardiomyopathy is a relatively common condition, restrictive cardiomyopathy, in heart to beat normally, the heart (cardiac) muscle must contract and relax in a related-gene gene-symbol ghr-page RCM GTR C0340429
which relaxation of the heart muscle is impaired, is the least common type. Some coordinated way. Oxygen-rich blood from the lungs travels first through the MYH7 https://ghr.nlm.nih.gov/gene/MYH7 db key
other forms of cardiomyopathy involve a weak or enlarged heart muscle with upper chambers of the heart (the atria), and then to the lower chambers of the related-gene gene-symbol ghr-page GTR C1861861
impaired contraction. In the United States and in Europe, restrictive heart (the ventricles). TNNI3 https://ghr.nlm.nih.gov/gene/TNNI3 db key
cardiomyopathy accounts for less than five percent of all cardiomyopathies. The html:p In people with familial restrictive cardiomyopathy, the heart muscle is stiff related-gene gene-symbol ghr-page GTR C1865071
proportion of restrictive cardiomyopathy that runs in families is not known. and cannot fully relax after each contraction. Impaired muscle relaxation causes TNNT2 https://ghr.nlm.nih.gov/gene/TNNT2 db key
blood to back up in the atria and lungs, which reduces the amount of blood in GTR C2676271
the ventricles. db key
html:p Familial restrictive cardiomyopathy can appear anytime from childhood to ICD-10-CM I42.5
adulthood. The first signs and symptoms of this condition in children are db key
failure to gain weight and grow at the expected rate (failure to thrive), MeSH D002313
extreme tiredness (fatigue), and fainting. Children who are severely affected db key
may also have abnormal swelling or puffiness (edema), increased blood pressure, OMIM 115210
an enlarged liver, an abnormal buildup of fluid in the abdominal cavity db key
(ascites), and lung congestion. Some children with familial restrictive OMIM 609578
cardiomyopathy do not have any obvious signs or symptoms, but they may die db key
suddenly due to heart failure. Without treatment, the majority of affected OMIM 612422
children survive only a few years after they are diagnosed. db key
html:p Adults with familial restrictive cardiomyopathy typically first develop Orphanet 217635
shortness of breath, fatigue, and a reduced ability to exercise. Some db key
individuals have an irregular heart beat (arrhythmia) and may also experience a SNOMED CT 233878008
sensation of fluttering or pounding in the chest (palpitations) and dizziness.
Abnormal blood clots are commonly seen in adults with this condition. Without
treatment, approximately one-third of adults with familial restrictive
cardiomyopathy do not survive more than five years after diagnosis.
related-gene-list
Familial thoracic aortic aneurysm and dissection https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissecti Familial TAAD is believed to account for at least 20 percent of thoracic html:p Familial thoracic aortic aneurysm and dissection (familial TAAD) involves ad autosomal dominant ACTA2 https://ghr.nlm.nih.gov/gene/ACTA2 annuloaortic ectasia db key 2015-01 2017-12-29
家族性胸腔主動脈瘤剝離症候群 on aortic aneurysms and dissections. In the remainder of cases, the abnormalities problems with the aorta, which is the large blood vessel that distributes blood related-gene gene-symbol ghr-page congenital aneurysm of ascending aorta GTR C0345050
are thought to be caused by factors that are not inherited, such as damage to from the heart to the rest of the body. Familial TAAD affects the upper part of FBN1 https://ghr.nlm.nih.gov/gene/FBN1 FAA db key
the walls of the aorta from aging, tobacco use, injury, or disease.While aortic the aorta, near the heart. This part of the aorta is called the thoracic aorta related-gene gene-symbol ghr-page familial aortic aneurysm GTR C1846837
aneurysms are common worldwide, it is difficult to determine their exact because it is located in the chest (thorax). Other vessels that carry blood from MYH11 https://ghr.nlm.nih.gov/gene/MYH11 familial aortic dissection db key
prevalence because they usually cause no symptoms unless they rupture. Ruptured the heart to the rest of the body (arteries) can also be affected. related-gene gene-symbol ghr-page familial TAAD GTR C1851504
aortic aneurysms and dissections are estimated to cause almost 30,000 deaths in html:p In familial TAAD, the aorta can become weakened and stretched (aortic MYLK https://ghr.nlm.nih.gov/gene/MYLK familial thoracic aortic aneurysm db key
the United States each year. dilatation), which can lead to a bulge in the blood vessel wall (an aneurysm). related-gene gene-symbol ghr-page FTAAD GTR C2673186
Aortic dilatation may also lead to a sudden tearing of the layers in the aorta PRKG1 https://ghr.nlm.nih.gov/gene/PRKG1 TAA db key
wall (aortic dissection), allowing blood to flow abnormally between the layers. related-gene gene-symbol ghr-page TAAD GTR CN118826
These aortic abnormalities are potentially life-threatening because they can SMAD3 https://ghr.nlm.nih.gov/gene/SMAD3 thoracic aortic aneurysm db key
decrease blood flow to other parts of the body such as the brain or other vital related-gene gene-symbol ghr-page GeneReviews taa
organs, or cause the aorta to break open (rupture). TGFBR1 https://ghr.nlm.nih.gov/gene/TGFBR1 db key
html:p The occurrence and timing of these aortic abnormalities vary, even within the related-gene gene-symbol ghr-page ICD-10-CM I71.0
same affected family. They can begin in childhood or not occur until late in TGFBR2 https://ghr.nlm.nih.gov/gene/TGFBR2 db key
life. Aortic dilatation is generally the first feature of familial TAAD to ICD-10-CM I71.00
develop, although in some affected individuals dissection occurs with little or db key
no aortic dilatation. ICD-10-CM I71.01
html:p Aortic aneurysms usually have no symptoms. However, depending on the size, db key
growth rate, and location of these abnormalities, they can cause pain in the ICD-10-CM I71.1
jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or db key
painful swallowing; hoarseness; shortness of breath; wheezing; a chronic cough; ICD-10-CM I71.2
or coughing up blood. Aortic dissections usually cause severe, sudden chest or db key
back pain, and may also result in unusually pale skin (pallor), a very faint ICD-10-CM I71.03
pulse, numbness or tingling (paresthesias) in one or more limbs, or paralysis. db key
html:p Familial TAAD may not be associated with other signs and symptoms. However, some ICD-10-CM I71.5
individuals in affected families show mild features of related conditions db key
called Marfan syndrome or Loeys-Dietz syndrome. These features include tall ICD-10-CM I71.6
stature, stretch marks on the skin, an unusually large range of joint movement db key
(joint hypermobility), and either a sunken or protruding chest. Occasionally, MeSH D017545
people with familial TAAD develop aneurysms in the brain or in the section of db key
the aorta located in the abdomen (abdominal aorta). Some people with familial OMIM 132900
TAAD have heart abnormalities that are present from birth (congenital). Affected db key
individuals may also have a soft out-pouching in the lower abdomen (inguinal OMIM 607086
hernia), an abnormal curvature of the spine (scoliosis), or a purplish skin db key
discoloration (livedo reticularis) caused by abnormalities in the tiny blood OMIM 607087
vessels of the skin (dermal capillaries). However, these conditions are also db key
common in the general population. Depending on the genetic cause of familial OMIM 611788
TAAD in particular families, they may have an increased risk of developing db key
blockages in smaller arteries, which can lead to heart attack and stroke. OMIM 613780
db key
OMIM 615436
db key
Orphanet 229
db key
related-gene-list SNOMED CT 433068007
Fanconi anemia https://ghr.nlm.nih.gov/condition/fanconi-anemia Fanconi anemia occurs in 1 in 160,000 individuals worldwide. This condition html:p Fanconi anemia is a condition that affects many parts of the body. People with ar autosomal recessive BRCA2 https://ghr.nlm.nih.gov/gene/BRCA2 FA db key 2012-01 2017-12-29
Fanconi 貧血症 is more common among people of Ashkenazi Jewish descent, the Roma population of this condition may have bone marrow failure, physical abnormalities, organ code memo related-gene gene-symbol ghr-page Fanconi hypoplastic anemia GTR C0015625
Spain, and black South Africans. defects, and an increased risk of certain cancers. xr X-linked recessive BRIP1 https://ghr.nlm.nih.gov/gene/BRIP1 Fanconi pancytopenia db key
html:p The major function of bone marrow is to produce new blood cells. These include related-gene gene-symbol ghr-page Fanconi panmyelopathy GTR C1835817
red blood cells, which carry oxygen to the body's tissues; white blood cells, FANCA https://ghr.nlm.nih.gov/gene/FANCA db key
which fight infections; and platelets, which are necessary for normal blood related-gene gene-symbol ghr-page GTR C1836860
clotting. Approximately 90 percent of people with Fanconi anemia have impaired FANCB https://ghr.nlm.nih.gov/gene/FANCB db key
bone marrow function that leads to a decrease in the production of all blood related-gene gene-symbol ghr-page GTR C1836861
cells (aplastic anemia 再生不良性貧血). Affected individuals experience extreme tiredness FANCC https://ghr.nlm.nih.gov/gene/FANCC db key
(fatigue) due to low numbers of red blood cells (anemia), frequent infections related-gene gene-symbol ghr-page GTR C1838457
due to low numbers of white blood cells (neutropenia), and clotting problems due FANCD2 https://ghr.nlm.nih.gov/gene/FANCD2 db key
to low numbers of platelets (thrombocytopenia). People with Fanconi anemia may related-gene gene-symbol ghr-page GTR C1845292
also develop myelodysplastic syndrome, a condition in which immature blood cells FANCE https://ghr.nlm.nih.gov/gene/FANCE db key
fail to develop normally. related-gene gene-symbol ghr-page GTR C3150653
html:p More than half of people with Fanconi anemia have physical abnormalities. These FANCF https://ghr.nlm.nih.gov/gene/FANCF db key
abnormalities can involve irregular skin coloring such as unusually related-gene gene-symbol ghr-page GTR C3160738
light-colored skin (hypopigmentation) or café-au-lait spots, which are flat FANCG https://ghr.nlm.nih.gov/gene/FANCG db key
patches on the skin that are darker than the surrounding area. Other possible related-gene gene-symbol ghr-page GTR C3160739
symptoms of Fanconi anemia include malformed thumbs or forearms and other FANCI https://ghr.nlm.nih.gov/gene/FANCI db key
skeletal problems including short stature; malformed or absent kidneys and other related-gene gene-symbol ghr-page GTR C3468041
defects of the urinary tract; gastrointestinal abnormalities; heart defects; FANCL https://ghr.nlm.nih.gov/gene/FANCL db key
eye abnormalities such as small or abnormally shaped eyes; and malformed ears related-gene gene-symbol ghr-page GTR C3469521
and hearing loss. People with this condition may have abnormal genitalia or FANCM https://ghr.nlm.nih.gov/gene/FANCM db key
malformations of the reproductive system. As a result, most affected males and related-gene gene-symbol ghr-page GTR C3469526
about half of affected females cannot have biological children (are infertile). PALB2 https://ghr.nlm.nih.gov/gene/PALB2 db key
Additional signs and symptoms can include abnormalities of the brain and spinal related-gene gene-symbol ghr-page GTR C3469527
cord (central nervous system), including increased fluid in the center of the RAD51C https://ghr.nlm.nih.gov/gene/RAD51C db key
brain (hydrocephalus) or an unusually small head size (microcephaly). related-gene gene-symbol ghr-page GTR C3469528
html:p Individuals with Fanconi anemia have an increased risk of developing a cancer of SLX4 https://ghr.nlm.nih.gov/gene/SLX4 db key
blood-forming cells in the bone marrow called acute myeloid leukemia (AML) or GTR C3469542
tumors of the head, neck, skin, gastrointestinal system, or genital tract. The db key
likelihood of developing one of these cancers in people with Fanconi anemia is GTR CN068499
between 10 and 30 percent. db key
GeneReviews fa
db key
ICD-10-CM D61.09
db key
MeSH D005199
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OMIM 227645
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OMIM 227646
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OMIM 227650
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OMIM 300514
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OMIM 600901
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OMIM 603467
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OMIM 605724
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OMIM 609053
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OMIM 609054
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OMIM 609644
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OMIM 610832
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OMIM 613390
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OMIM 613951
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OMIM 614082
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OMIM 614083
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Orphanet 84
db key
related-gene-list SNOMED CT 30575002
Farber lipogranulomatosis https://ghr.nlm.nih.gov/condition/farber-lipogranulomatosis Farber lipogranulomatosis is a rare disorder. About 80 cases have been html:p Farber lipogranulomatosis is a rare inherited condition involving the breakdown ar autosomal recessive ASAH1 https://ghr.nlm.nih.gov/gene/ASAH1 AC deficiency db key 2013-12 2017-12-29
法伯氏脂肪肉芽腫病 reported worldwide. and use of fats in the body (lipid metabolism). In affected individuals, lipids acid ceramidase deficiency GTR C0268255
accumulate abnormally in cells and tissues throughout the body, particularly acylsphingosine deacylase deficiency db key
around the joints. ceramidase deficiency ICD-10-CM E75.29
html:p Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak Farber disease db key
cry, small lumps of fat under the skin and in other tissues (lipogranulomas), Farber-Uzman syndrome MeSH D055577
and swollen and painful joints. Affected individuals may also have difficulty Farber's disease db key
breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental Farber's lipogranulomatosis OMIM 228000
delay. db key
html:p Researchers have described seven types of Farber lipogranulomatosis based on Orphanet 333
their characteristic features. db key
html:p Type 1 is the most common, or classical, form of this condition and is SNOMED CT 79935000
associated with the classic signs of voice, skin, and joint problems that begin
a few months after birth. Developmental delay and lung disease also commonly
occur. Infants born with type 1 Farber lipogranulomatosis usually survive only
into early childhood.
html:p Types 2 and 3 generally have less severe signs and symptoms than the other
types. Affected individuals have the three classic signs and usually do not have
developmental delay. Children with these types of Farber lipogranulomatosis
typically live into mid- to late childhood.
html:p Types 4 and 5 are associated with severe neurological problems. Type 4 usually
causes life-threatening health problems beginning in infancy due to massive
lipid deposits in the liver, spleen, lungs, and immune system tissues. Children
with this type typically do not survive past their first year of life. Type 5 is
characterized by progressive decline in brain and spinal cord (central nervous
system) function, which causes paralysis of the arms and legs (quadriplegia),
seizures, loss of speech, involuntary muscle jerks (myoclonus), and
developmental delay. Children with type 5 Farber lipogranulomatosis survive into
early childhood.
html:p Types 6 and 7 are very rare, and affected individuals have other associated
disorders in addition to Farber lipogranulomatosis.
related-gene-list
Fatty acid hydroxylase-associated neurodegeneration https://ghr.nlm.nih.gov/condition/fatty-acid-hydroxylase-associated-neurodegener FAHN is a rare disorder; only a few dozen cases have been reported. html:p Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive ar autosomal recessive FA2H https://ghr.nlm.nih.gov/gene/FA2H dysmyelinating leukodystrophy and spastic paraparesis db key 2015-08 2017-12-29
家族性脂肪酸羟化酶關聯神经退行 ation disorder of the nervous system (neurodegeneration) characterized by problems FAHN GTR C3668943
with movement and vision that begin during childhood or adolescence. spastic paraplegia 35 db key
html:p Changes in the way a person walks (gait) and frequent falls are usually the GeneReviews fahn
first noticeable signs of FAHN. Affected individuals gradually develop extreme db key
muscle stiffness (spasticity) and exaggerated reflexes. They typically have MeSH D020271
involuntary muscle cramping (dystonia), problems with coordination and balance db key
(ataxia), or both. The movement problems worsen over time, and some people with OMIM 612319
this condition eventually require wheelchair assistance. db key
html:p People with FAHN often develop vision problems, which occur due to deterioration Orphanet 385
(atrophy) of the nerves that carry information from the eyes to the brain (the db key
optic nerves) and difficulties with the muscles that control eye movement. SNOMED CT 702419001
Affected individuals may have a loss of sharp vision (reduced visual acuity),
decreased field of vision, impaired color perception, eyes that do not look in
the same direction (strabismus), rapid involuntary eye movements (nystagmus), or
difficulty moving the eyes intentionally (supranuclear gaze palsy).
html:p Speech impairment (dysarthria) also occurs in FAHN, and severely affected
individuals may lose the ability to speak. People with this disorder may also
have difficulty chewing or swallowing (dysphagia). In severe cases, they may
develop malnutrition and require a feeding tube. The swallowing difficulties
can lead to a bacterial lung infection called aspiration pneumonia, which can be
life-threatening. As the disorder progresses, some affected individuals
experience seizures and a decline in intellectual function.
html:p Magnetic resonance imaging (MRI) of the brain in people with FAHN shows signs of
iron accumulation, especially in an area of the brain called the globus
pallidus, which is involved in regulating movement. Similar patterns of iron
accumulation are seen in certain other neurological disorders such as infantile
neuroaxonal dystrophy and pantothenate kinase-associated neurodegeneration. All
these conditions belong to a class of disorders called neurodegeneration with
brain iron accumulation (NBIA).
inheritance-pattern-list related-gene-list
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome https://ghr.nlm.nih.gov/condition/fbxl4-related-encephalomyopathic-mitochondrial FBXL4-related encephalomyopathic mtDNA depletion syndrome is a rare html:p FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a severe condition that begins ar autosomal recessive ghr-page FBXL4 deficiency db-key db key 2017-05 2017-12-29
-dna-depletion-syndrome condition; the exact prevalence is unknown. At least 50 affected individuals in infancy and affects multiple body systems. It is primarily associated with brain dysfunction https://ghr.nlm.nih.gov/gene/FBXL4 FBXL4-related early onset mitochondrial encephalopathy GTR C3809592
have been described in the medical literature. combined with muscle weakness (encephalomyopathy). mitochondrial DNA depletion syndrome 13, encephalomyopathic type db-key db key
MTDPS13 GeneReviews fbxl4-mtddepl
html:p Infants with FBXL4-related encephalomyopathic mtDNA depletion syndrome have weak muscle tone db-key db key
(hypotonia) and a failure to grow or gain weight at the expected rate (failure to thrive). Children with MeSH D017237
FBXL4-related encephalomyopathic mtDNA depletion syndrome have delayed development of mental db-key db key
and motor skills and severely impaired speech development. Many affected individuals have seizures, OMIM 615471
movement abnormalities, and an unusually small head size (microcephaly) with a loss of nerve cells
in the brain (cerebral atrophy).
html:p All individuals with FBXL4-related encephalomyopathic mtDNA depletion syndrome have a buildup of
a chemical called lactic acid in the body (lactic acidosis), and about half of individuals have an accumulation
of ammonia in the blood. Buildup of these substances can be life-threatening. Many affected individuals also
have heart abnormalities, such as congenital heart defects or heart rhythm abnormalities (arrhythmias). In
addition, individuals with this condition can have vision problems, hearing loss, liver abnormalities (hepatopathy),
and immune deficiency due to a decrease in white blood cells. Many children with FBXL4-related
encephalomyopathic mtDNA depletion syndrome have distinctive facial features that can include thick eyebrows;
outside corners of the eyes that point upward (upslanting palpebral fissures); a broad nasal bridge and tip; and
a long, smooth space between the upper lip and nose (philtrum).
html:p Because the encephalomyopathy and other signs and symptoms are so severe, people with FBXL4-related encephalomyopathic
mtDNA depletion syndrome usually live only into early childhood.
related-gene-list
Feingold syndrome https://ghr.nlm.nih.gov/condition/feingold-syndrome Feingold syndrome appears to be a rare condition, although its exact html:p Feingold syndrome is a disorder that affects many parts of the body. The signs ad autosomal dominant MYCN https://ghr.nlm.nih.gov/gene/MYCN microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome db key 2009-09 2017-12-29
Feingold氏症候群第一型 prevalence is unknown. and symptoms of this condition vary among affected individuals, even among microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome GTR C0796068
members of the same family. oculo-digito-esophagoduodental (ODED) syndrome db key
html:p Individuals with Feingold syndrome have characteristic abnormalities of their GTR C3280489
fingers and toes. Almost all people with this condition have a specific hand db key
abnormality called brachymesophalangy, which refers to shortening of the second GTR CN199181
and fifth fingers. Other common abnormalities include fifth fingers that curve db key
inward (clinodactyly), underdeveloped thumbs (thumb hypoplasia), and fusion GeneReviews feingold
(syndactyly) of the second and third toes or the fourth and fifth toes. db key
html:p People with Feingold syndrome are frequently born with a blockage in part of MeSH D030342
their digestive system called gastrointestinal atresia. In most cases, the db key
blockage occurs in the esophagus (esophageal atresia) or in part of the small OMIM 164280
intestine (duodenal atresia). Additional common features of Feingold syndrome db key
include an unusually small head size (microcephaly), a small jaw (micrognathia), OMIM 614326
a narrow opening of the eyelids (short palpebral fissures), and mild to db key
moderate learning disability. Less often, affected individuals have hearing Orphanet 1305
loss, impaired growth, and kidney and heart abnormalities. db key
related-gene-list SNOMED CT 702431004
FG syndrome https://ghr.nlm.nih.gov/condition/fg-syndrome The prevalence of FG syndrome is unknown, although several hundred cases html:p FG syndrome is a genetic condition that affects many parts of the body and xr X-linked recessive CASK https://ghr.nlm.nih.gov/gene/CASK FGS db key 2012-12 2017-12-29
FG綜合徵 have been reported worldwide. Researchers suspect that FG syndrome may be occurs almost exclusively in males. "FG" represents the surname initials of the related-gene gene-symbol ghr-page FGS1 GTR C0220769
overdiagnosed because many of its signs and symptoms are also seen with other first family diagnosed with the disorder. FLNA https://ghr.nlm.nih.gov/gene/FLNA Keller syndrome db key
disorders. html:p FG syndrome affects intelligence and behavior. Almost everyone with the related-gene gene-symbol ghr-page mental retardation, large head, imperforate anus, congenital hypotonia, and GTR C1845119
condition has intellectual disability, which ranges from mild to severe. MED12 https://ghr.nlm.nih.gov/gene/MED12 partial agenesis of the corpus callosum db key
Affected individuals tend to be friendly, inquisitive, and hyperactive, with a related-gene gene-symbol ghr-page OKS GTR C1845546
short attention span. Compared to people with other forms of intellectual UPF3B https://ghr.nlm.nih.gov/gene/UPF3B Opitz-Kaveggia syndrome db key
disability, their socialization and daily living skills are strong, while verbal GTR C1845567
communication and language skills tend to be weaker. db key
html:p The physical features of FG syndrome include weak muscle tone (hypotonia), broad GTR C1845902
thumbs, and wide first (big) toes. Abnormalities of the tissue connecting the db key
left and right halves of the brain (the corpus callosum) are also common. Most GeneReviews fg
affected individuals have constipation, and many have abnormalities of the anus db key
such as an obstruction of the anal opening (imperforate anus). People with FG MeSH D000015
syndrome also tend to have a distinctive facial appearance including small, db key
underdeveloped ears; a tall, prominent forehead; and outside corners of the eyes MeSH D038901
that point downward (down-slanting palpebral fissures). db key
html:p Additional features seen in some people with FG syndrome include widely set eyes OMIM 300321
(hypertelorism), an upswept frontal hairline, and a large head compared to body db key
size (relative macrocephaly). Other health problems have also been reported, OMIM 300406
including heart defects, seizures, undescended testes (cryptorchidism) in males, db key
and a soft out-pouching in the lower abdomen (an inguinal hernia). OMIM 300422
db key
OMIM 300581
db key
OMIM 305450
db key
Orphanet 323
db key
related-gene-list SNOMED CT 49984004
Fibrochondrogenesis https://ghr.nlm.nih.gov/condition/fibrochondrogenesis Fibrochondrogenesis appears to be a rare disorder. About 20 affected html:p Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants ad autosomal dominant COL11A1 https://ghr.nlm.nih.gov/gene/COL11A1 FBCG1 db key 2016-04 2017-12-29
纤维软骨增生 individuals have been described in the medical literature. have a very narrow chest, which prevents the lungs from developing normally. code memo related-gene gene-symbol ghr-page FBCG2 GTR C0265282
Most infants with this condition are stillborn or die shortly after birth from ar autosomal recessive COL11A2 https://ghr.nlm.nih.gov/gene/COL11A2 fibrochondrogenesis-1 db key
respiratory failure. However, some affected individuals have lived into fibrochondrogenesis-2 GTR C3281128
childhood. db key
html:p Fibrochondrogenesis is characterized by short stature (dwarfism) and other MeSH D000015
skeletal abnormalities. Affected individuals have shortened long bones in the db key
arms and legs that are unusually wide at the ends (described as MeSH D004392
dumbbell-shaped). People with this condition also have a narrow chest with db key
short, wide ribs and a round and prominent abdomen. The bones of the spine OMIM 228520
(vertebrae) are flattened (platyspondyly) and have a characteristic pinched or db key
pear shape that is noticeable on x-rays. Other skeletal abnormalities associated OMIM 614524
with fibrochondrogenesis include abnormal curvature of the spine and db key
underdeveloped hip (pelvic) bones. Orphanet 2021
html:p People with fibrochondrogenesis also have distinctive facial features. These db key
include prominent eyes, low-set ears, a small mouth with a long upper lip, and a SNOMED CT 17144009
small chin (micrognathia). Affected individuals have a relatively
flat-appearing midface, particularly a small nose with a flat nasal bridge and
nostrils that open to the front rather than downward (anteverted nares). Vision
problems, including severe nearsightedness (high myopia) and clouding of the
lens of the eye (cataract), are common in those who survive infancy. Most
affected individuals also have sensorineural hearing loss, which is caused by
abnormalities of the inner ear.
related-gene-list
Fibrodysplasia ossificans progressiva （FOP） https://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva Fibrodysplasia ossificans progressiva is a very rare disorder, believed to html:p Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue ad autosomal dominant ACVR1 https://ghr.nlm.nih.gov/gene/ACVR1 Myositis Ossificans db key 2007-08 2017-12-29
Myositis ossificans progressiva occur in approximately 1 in 2 million people worldwide. Several hundred cases and connective tissue such as tendons and ligaments are gradually replaced by Myositis ossificans progressiva GTR C0016037
进行性骨化性肌炎 have been reported. bone (ossified), forming bone outside the skeleton (extra-skeletal or Progressive myositis ossificans db key
進行性骨化性肌炎 (珊瑚人) heterotopic bone) that constrains movement. This process generally becomes progressive ossifying myositis ICD-10-CM M61.1
進行性肌肉骨化症 noticeable in early childhood, starting with the neck and shoulders and db key
proceeding down the body and into the limbs. ICD-10-CM M61.10
html:p Extra-skeletal bone formation causes progressive loss of mobility as the joints db key
become affected. Inability to fully open the mouth may cause difficulty in ICD-10-CM M61.11
speaking and eating. Over time, people with this disorder may experience db key
malnutrition due to their eating problems. They may also have breathing ICD-10-CM M61.12
difficulties as a result of extra bone formation around the rib cage that db key
restricts expansion of the lungs. ICD-10-CM M61.13
html:p Any trauma to the muscles of an individual with fibrodysplasia ossificans db key
progressiva, such as a fall or invasive medical procedures, may trigger episodes ICD-10-CM M61.14
of muscle swelling and inflammation (myositis) followed by more rapid db key
ossification in the injured area. Flare-ups may also be caused by viral ICD-10-CM M61.15
illnesses such as influenza. db key
html:p People with fibrodysplasia ossificans progressiva are generally born with ICD-10-CM M61.16
malformed big toes. This abnormality of the big toes is a characteristic feature db key
that helps to distinguish this disorder from other bone and muscle problems. ICD-10-CM M61.17
Affected individuals may also have short thumbs and other skeletal db key
abnormalities. ICD-10-CM M61.18
db key
ICD-10-CM M61.19
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ICD-10-CM M61.111
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ICD-10-CM M61.112
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ICD-10-CM M61.119
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ICD-10-CM M61.121
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ICD-10-CM M61.122
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ICD-10-CM M61.129
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ICD-10-CM M61.131
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ICD-10-CM M61.132
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ICD-10-CM M61.139
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ICD-10-CM M61.141
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ICD-10-CM M61.142
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ICD-10-CM M61.143
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ICD-10-CM M61.144
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ICD-10-CM M61.145
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ICD-10-CM M61.146
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ICD-10-CM M61.151
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ICD-10-CM M61.152
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ICD-10-CM M61.159
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ICD-10-CM M61.161
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ICD-10-CM M61.162
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ICD-10-CM M61.169
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ICD-10-CM M61.171
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ICD-10-CM M61.172
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ICD-10-CM M61.173
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ICD-10-CM M61.174
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ICD-10-CM M61.175
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ICD-10-CM M61.176
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ICD-10-CM M61.177
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ICD-10-CM M61.178
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ICD-10-CM M61.179
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MeSH D009221
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OMIM 135100
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Orphanet 337
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related-gene-list SNOMED CT 82725007
Fibronectin glomerulopathy https://ghr.nlm.nih.gov/condition/fibronectin-glomerulopathy Fibronectin glomerulopathy is likely a rare condition, although its html:p Fibronectin glomerulopathy is a kidney disease that usually develops between ad autosomal dominant FN1 https://ghr.nlm.nih.gov/gene/FN1 familial glomerular nephritis with fibronectin deposits db key 2015-04 2017-12-29
纤维粘连蛋白肾小球病变 prevalence is unknown. At least 45 cases have been described in the scientific early and mid-adulthood but can occur at any age. It eventually leads to familial lobular glomerulopathy GTR C1866075
(Renal) literature. irreversible kidney failure (end-stage renal disease). GFND db key
html:p Individuals with fibronectin glomerulopathy usually have blood and excess glomerulopathy with fibronectin deposits ICD-10-CM N07.5
protein in their urine (hematuria and proteinuria, respectively). They also have glomerulopathy with giant fibrillar deposits db key
high blood pressure (hypertension). Some affected individuals develop renal MeSH D015432
tubular acidosis, which occurs when the kidneys are unable to remove enough acid db key
from the body and the blood becomes too acidic. OMIM 137950
html:p The kidneys of people with fibronectin glomerulopathy have large deposits of the db key
protein fibronectin-1 in structures called glomeruli. These structures are OMIM 601894
clusters of tiny blood vessels in the kidneys that filter waste products from db key
blood. The waste products are then released in urine. The fibronectin-1 deposits Orphanet 84090
impair the glomeruli's filtration ability. db key
html:p Fifteen to 20 years following the appearance of signs and symptoms, individuals SNOMED CT 236535001
with fibronectin glomerulopathy often develop end-stage renal disease. Affected
individuals may receive treatment in the form of a kidney transplant; in some
cases, fibronectin glomerulopathy comes back (recurs) following transplantation.
related-gene-list
Fish-eye disease https://ghr.nlm.nih.gov/condition/fish-eye-disease Fish-eye disease is a rare disorder. Approximately 30 cases have been html:p Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes ar autosomal recessive LCAT https://ghr.nlm.nih.gov/gene/LCAT alpha-LCAT deficiency db key 2013-08 2017-12-29
魚眼病 reported in the medical literature. the clear front surface of the eyes (the corneas) to gradually become cloudy. alpha-lecithin:cholesterol acyltransferase deficiency GTR C0342895
The cloudiness, which generally first appears in adolescence or early adulthood, dyslipoproteinemic corneal dystrophy db key
consists of small grayish dots of cholesterol (opacities) distributed across FED MeSH D007863
the corneas. Cholesterol is a waxy, fat-like substance that is produced in the LCATA deficiency db key
body and obtained from foods that come from animals; it aids in many functions partial LCAT deficiency OMIM 136120
of the body but can become harmful in excessive amounts. As fish-eye disease db key
progresses, the corneal cloudiness worsens and can lead to severely impaired Orphanet 79292
vision. db key
related-gene-list SNOMED CT 238092004
Floating-Harbor syndrome https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome Floating-Harbor syndrome is a rare disorder; only about 50 cases have been html:p Floating-Harbor syndrome is a disorder involving short stature, slowing of the ad autosomal dominant SRCAP https://ghr.nlm.nih.gov/gene/SRCAP FHS db key 2012-12 2017-12-29
reported in the medical literature. mineralization of the bones (delayed bone age), delayed speech development, and FLHS GTR C0729582
characteristic facial features. The condition is named for the hospitals where Leisti-Hollander-Rimoin syndrome db key
it was first described, the Boston Floating Hospital and Harbor General Hospital Pelletier-Leisti syndrome GeneReviews fhs
in Torrance, California. db key
html:p Growth deficiency in people with Floating-Harbor syndrome generally becomes MeSH D000015
apparent in the first year of life, and affected individuals are usually among db key
the shortest 5 percent of their age group. Bone age is delayed in early OMIM 136140
childhood; for example, an affected 3-year-old child may have bones more typical db key
of a child of 2. However, bone age is usually normal by age 6 to 12. Orphanet 2044
html:p Delay in speech development (expressive language delay) may be severe in db key
Floating-Harbor syndrome, and language impairment can lead to problems in verbal SNOMED CT 312214005
communication. Most affected individuals also have mild intellectual
disability. Their development of motor skills, such as sitting and crawling, is
similar to that of other children their age.
html:p Typical facial features in people with Floating-Harbor syndrome include a
triangular face; a low hairline; deep-set eyes; long eyelashes; a large,
distinctive nose with a low-hanging separation (overhanging columella) between
large nostrils; a shortened distance between the nose and upper lip (a short
philtrum); and thin lips. As affected children grow and mature, the nose becomes
more prominent.
html:p Additional features that have occurred in some affected individuals include
short fingers and toes (brachydactyly); widened and rounded tips of the fingers
(clubbing); curved pinky fingers (fifth finger clinodactyly); an unusually
high-pitched voice; and, in males, undescended testes (cryptorchidism).
related-gene-list
Focal dermal hypoplasia https://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia Focal dermal hypoplasia appears to be a rare condition, although its exact html:p Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, xd X-linked dominant PORCN https://ghr.nlm.nih.gov/gene/PORCN Goltz-Gorlin syndrome db key 2014-07 2017-12-29
侷限性真皮發育不良 prevalence is unknown. skeleton, eyes, and face. About 90 percent of affected individuals are female. Goltz syndrome GTR C0016395
Goltz Syndrome Males usually have milder signs and symptoms than females. Although intelligence db key
is typically unaffected, some individuals have intellectual disability. GeneReviews focal-dh
html:p People with focal dermal hypoplasia have skin abnormalities present from birth, db key
such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of MeSH D005489
fat under the skin, areas where the top layers of skin are absent (cutis db key
aplasia), small clusters of veins on the surface of the skin (telangiectases), OMIM 305600
and streaks of slightly darker or lighter skin. These skin changes may cause db key
pain, itching, irritation, or lead to skin infections. Wart-like growths called Orphanet 2092
papillomas are usually not present at birth but develop with age. Papillomas db key
typically form around the nostrils, lips, anus, and female genitalia. They may SNOMED CT 205573006
also be present in the throat, specifically in the esophagus or larynx, and can db key
cause problems with swallowing, breathing, or sleeping. Papillomas can usually SNOMED CT 2298005
be surgically removed if necessary. Affected individuals may have small, ridged
fingernails and toenails. Hair on the scalp can be sparse and brittle or absent.
html:p Many individuals with focal dermal hypoplasia have hand and foot abnormalities,
including missing fingers or toes (oligodactyly), webbed or fused fingers or
toes (syndactyly), and a deep split in the hands or feet with missing fingers or
toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks
of altered bone density, called osteopathia striata, that do not cause any
symptoms in people with focal dermal hypoplasia.
html:p Eye abnormalities are common in individuals with focal dermal hypoplasia,
including small eyes (microphthalmia), absent or severely underdeveloped eyes
(anophthalmia), and problems with the tear ducts. Affected individuals may also
have incomplete development of the light-sensitive tissue at the back of the eye
(retina) or the nerve that relays visual information from the eye to the brain
(optic nerve). This abnormal development of the retina and optic nerve can
result in a gap or split in these structures, which is called a coloboma. Some
of these eye abnormalities do not impair vision, while others can lead to low
vision or blindness.
html:p People with focal dermal hypoplasia may have distinctive facial features.
Affected individuals often have a pointed chin, small ears, notched nostrils,
and a slight difference in the size and shape of the right and left sides of the
face (facial asymmetry). These facial characteristics are typically very
subtle. An opening in the lip (cleft lip) with or without an opening in the roof
of the mouth (cleft palate) may also be present.
html:p About half of individuals with focal dermal hypoplasia have abnormalities of
their teeth, especially the hard, white material that forms the protective outer
layer of each tooth (enamel). Less commonly, abnormalities of the kidneys and
gastrointestinal system are present. The kidneys may be fused together, which
predisposes affected individuals to kidney infections but does not typically
cause significant health problems. The main gastrointestinal abnormality that
occurs in people with focal dermal hypoplasia is an omphalocele, which is an
opening in the wall of the abdomen that allows the abdominal organs to protrude
through the navel. The signs and symptoms of focal dermal hypoplasia vary
widely, although almost all affected individuals have skin abnormalities.
inheritance-pattern-list
FOXG1 syndrome https://ghr.nlm.nih.gov/condition/foxg1-syndrome More than 100 cases of this rare condition have been reported. html:p FOXG1 syndrome is a condition characterized by impaired development and ad related-gene ghr-page synonym FOXG1-related disorder db-key db key 2016-07 2017-12-29
structural brain abnormalities. Affected infants are small at birth, and their heads https://ghr.nlm.nih.gov/gene/FOXG1 GTR C3150705
grow more slowly than normal, leading to an unusually small head size (microcephaly) related-chromosome ghr-page db-key db key
by early childhood. The condition is associated with a particular pattern of brain https://ghr.nlm.nih.gov/chromosome/14 MeSH D020271
malformations that includes a thin or underdeveloped connection between the right db-key db key
and left halves of the brain (a structure called the corpus callosum), reduced folds OMIM 613454
and grooves (gyri) on the surface of the brain, and a smaller than usual amount db-key db key
of brain tissue known as white matter. SNOMED CT 702450004
html:p FOXG1 syndrome affects most aspects of development, and children with the condition
typically have severe intellectual disability. Abnormal or involuntary movements, such as jerking
movements of the arms and legs and repeated hand motions, are common, and most affected children
do not learn to sit or walk without assistance. Babies and young children with FOXG1 syndrome
often have feeding problems, sleep disturbances, seizures, irritability, and excessive crying. The
condition is also characterized by limited communication and social interaction, including poor eye
contact and a near absence of speech and language skills. Because of these social impairments,
FOXG1 syndrome is classified as an autism spectrum disorder.
html:p FOXG1 syndrome was previously described as a congenital variant of Rett syndrome, which is a similar diso
rder of brain development. Both disorders are characterized by impaired development, intellectual
disability, and problems with communication and language. However, Rett syndrome is diagnosed
almost exclusively in females, while FOXG1 syndrome affects both males and females. Rett syndrome
also involves a period of apparently normal early development that does not occur in FOXG1 syndrome.
Because of these differences, physicians and researchers now usually consider FOXG1 syndrome
to be distinct from Rett syndrome.
inheritance-pattern-list related-gene-list
FOXP2-related speech and language disorder https://ghr.nlm.nih.gov/condition/foxp2-related-speech-and-language-disorder FOXP2-related speech and language disorder appears to be a relatively html:p autosomal dominant FOXP2 synonym db-key db key 2016-09 2017-12-29
uncommon cause of problems with speech and language development. The total related-chromosome name synonym GTR C0750927
prevalence of childhood apraxia of speech is estimated to be 1 to 2 in 1,000 7 synonym db-key db key
people, but it is unknown how many of those cases represent FOXP2-related speech synonym GeneReviews foxp2-sl-dis
and language disorder. synonym db-key db key
MeSH D001072
db-key db key
OMIM 602081
db-key db key
Orphanet 209908
html:p db-key db key
SNOMED CT 229703009
related-gene-list
Fragile X-associated primary ovarian insufficiency https://ghr.nlm.nih.gov/condition/fragile-x-associated-primary-ovarian-insuffici An estimated 1 in 200 females has the genetic change that leads to FXPOI, html:p Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that xd X-linked dominant FMR1 https://ghr.nlm.nih.gov/gene/FMR1 FMR1-related primary ovarian insufficiency db key 2012-08 2017-12-29
脆性X相关原发性卵巢功能不全 ency although only about a quarter of them develop the condition. FXPOI accounts for affects women and is characterized by reduced function of the ovaries. The FXPOI GTR C2749126
about 4 to 6 percent of all cases of primary ovarian insufficiency in women. ovaries are the female reproductive organs in which egg cells are produced. As a premature ovarian failure 1 db key
form of primary ovarian insufficiency, FXPOI can cause irregular menstrual X-linked hypergonadotropic ovarian failure GeneReviews fragilex
cycles, early menopause, an inability to have children (infertility), and db key
elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is MeSH D016649
produced in both males and females and helps regulate the development of db key
reproductive cells (eggs in females and sperm in males). In females, the level OMIM 311360
of FSH rises and falls, but overall it increases as a woman ages. In younger db key
women, elevated levels may indicate early menopause and fertility problems. SNOMED CT 237788002
html:p The severity of FXPOI is variable. The most severely affected women have overt
POI (formerly called premature ovarian failure). These women have irregular or
absent menstrual periods and elevated FSH levels before age 40. Overt POI often
causes infertility. Other women have occult POI; they have normal menstrual
periods but reduced fertility, and they may have elevated levels of FSH (in
which case, it is called biochemical POI). The reduction in ovarian function
caused by FXPOI results in low levels of the hormone estrogen, which leads to
many of the common signs and symptoms of menopause, such as hot flashes,
insomnia, and thinning of the bones (osteoporosis). Women with FXPOI undergo
menopause an average of 5 years earlier than women without the condition.
related-gene-list
Fragile X-associated tremor/ataxia syndrome https://ghr.nlm.nih.gov/condition/fragile-x-associated-tremor-ataxia-syndrome Studies show that approximately 1 in 450 males has the genetic change that html:p Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems xd X-linked dominant FMR1 https://ghr.nlm.nih.gov/gene/FMR1 fragile X tremor/ataxia syndrome db key 2012-08 2017-12-29
脆性X相关顫抖/共濟失調綜合症 leads to FXTAS, although the condition occurs in only about 40 percent of them. with movement and thinking ability (cognition). FXTAS is a late-onset disorder, FXTAS GTR C1839780
It is estimated that 1 in 3,000 men over age 50 is affected. Similarly, 1 in 200 usually occurring after age 50, and its signs and symptoms worsen with age. db key
females has the genetic change, but only an estimated 16 percent of them This condition affects males more frequently and severely than females. Affected GeneReviews fragilex
develop signs and symptoms of FXTAS. individuals have areas of damage in the part of the brain that controls db key
movement (the cerebellum) and in a type of brain tissue known as white matter, MeSH D002526
which can be seen with magnetic resonance imaging (MRI). This damage leads to db key
the movement problems and other impairments associated with FXTAS. OMIM 300623
html:p The characteristic features of FXTAS are intention tremor, which is trembling or db key
shaking of a limb when trying to perform a voluntary movement such as reaching Orphanet 93256
for an object, and problems with coordination and balance (ataxia). Typically db key
intention tremors will develop first, followed a few years later by ataxia, SNOMED CT 448045004
although not everyone with FXTAS has both features. Many affected individuals
develop other movement problems, such as a pattern of movement abnormalities
known as parkinsonism, which includes tremors when not moving (resting tremor),
rigidity, and unusually slow movement (bradykinesia). In addition, affected
individuals may have reduced sensation, numbness or tingling, pain, or muscle
weakness in the lower limbs. Some people with FXTAS experience problems with the
autonomic nervous system, which controls involuntary body functions, leading to
the inability to control the bladder or bowel.
html:p People with FXTAS commonly have cognitive disabilities. They may develop
short-term memory loss and loss of executive function, which is the ability to
plan and implement actions and develop problem-solving strategies. Loss of this
function impairs skills such as impulse control, self-monitoring, focusing
attention appropriately, and cognitive flexibility. Many people with FXTAS
experience anxiety, depression, moodiness, or irritability.
html:p Some women develop immune system disorders, such as hypothyroidism or
fibromyalgia, before the signs and symptoms of FXTAS appear.
related-gene-list
Fragile X syndrome (FRAXA) https://ghr.nlm.nih.gov/condition/fragile-x-syndrome Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 html:p Fragile X syndrome is a genetic condition that causes a range of developmental xd X-linked dominant FMR1 https://ghr.nlm.nih.gov/gene/FMR1 fra(X) syndrome db key 2012-04 2017-12-29
X染色體脆折症 females. problems including learning disabilities and cognitive impairment. Usually, FRAXA syndrome GTR C0016667
males are more severely affected by this disorder than females. FXS db key
html:p Affected individuals usually have delayed development of speech and language by marker X syndrome GeneReviews fragilex
age 2. Most males with fragile X syndrome have mild to moderate intellectual Martin-Bell syndrome db key
disability, while about one-third of affected females are intellectually X-linked mental retardation and macroorchidism ICD-10-CM Q99.2
disabled. Children with fragile X syndrome may also have anxiety and hyperactive db key
behavior such as fidgeting or impulsive actions. They may have attention MeSH D005600
deficit disorder (ADD), which includes an impaired ability to maintain attention db key
and difficulty focusing on specific tasks. About one-third of individuals with OMIM 309550
fragile X syndrome have features of autism spectrum disorders that affect db key
communication and social interaction. Seizures occur in about 15 percent of Orphanet 908
males and about 5 percent of females with fragile X syndrome. db key
html:p Most males and about half of females with fragile X syndrome have characteristic SNOMED CT 613003
physical features that become more apparent with age. These features include a
long and narrow face, large ears, a prominent jaw and forehead, unusually
flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism)
after puberty.
related-gene-list
Fragile XE syndrome https://ghr.nlm.nih.gov/condition/fragile-xe-syndrome Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn html:p Fragile XE syndrome is a genetic disorder that impairs thinking ability and x X-linked AFF2 https://ghr.nlm.nih.gov/gene/AFF2 FRAXE intellectual deficit db key 2014-01 2017-12-29
males. Only a small number of affected females have been described in the cognitive functioning. Most affected individuals have mild intellectual FRAXE intellectual disability GTR C0751157
medical literature. Because mildly affected individuals may never be diagnosed, disability. In some people with this condition, cognitive function is described FRAXE mental retardation syndrome db key
it is thought that the condition may be more common than reported. as borderline, which means that it is below average but not low enough to be FRAXE syndrome MeSH D038901
classified as an intellectual disability. Females are rarely diagnosed with mental retardation, X-linked, associated with fragile site FRAXE db key
fragile XE syndrome, likely because the signs and symptoms are so mild that the mental retardation, X-linked, FRAXE type OMIM 309548
individuals function normally. db key
html:p Learning disabilities are the most common sign of impaired cognitive function in Orphanet 100973
people with fragile XE syndrome. The learning disabilities are likely a result db key
of communication and behavioral problems, including delayed speech, poor writing SNOMED CT 254288000
skills, hyperactivity, and a short attention span. Some affected individuals
display autistic behaviors, such as hand flapping, repetitive behaviors, and
intense interest in a particular subject. Unlike some other forms of
intellectual disability, cognitive functioning remains steady and does not
decline with age in fragile XE syndrome.
related-gene-list
Fraser syndrome https://ghr.nlm.nih.gov/condition/fraser-syndrome Fraser syndrome affects an estimated 1 in 200,000 newborns. The condition html:p Fraser syndrome is a rare disorder that affects development starting before ar autosomal recessive FRAS1 https://ghr.nlm.nih.gov/gene/FRAS1 cryptophthalmos syndactyly syndrome db key 2014-06 2017-12-29
弗雷澤綜合症 occurs in approximately 1 in 10,000 fetuses that do not survive to birth. birth. Characteristic features of this condition include eyes that are related-gene gene-symbol ghr-page cryptophthalmos syndrome GTR C0265233
completely covered by skin and usually malformed (cryptophthalmos), fusion of FREM2 https://ghr.nlm.nih.gov/gene/FREM2 cryptophthalmos with other malformations db key
the skin between the fingers and toes (cutaneous syndactyly), and abnormalities related-gene gene-symbol ghr-page Fraser-Francois syndrome MeSH D058497
of the genitalia and the urinary tract (genitourinary anomalies). Other tissues GRIP1 https://ghr.nlm.nih.gov/gene/GRIP1 Fraser's syndrome db key
and organs can also be affected. Depending on the severity of the signs and Meyer-Schwickerath syndrome OMIM 219000
symptoms, Fraser syndrome can be fatal before or shortly after birth; less Ullrich-Feichtiger syndrome db key
severely affected individuals can live into childhood or adulthood. Orphanet 2052
html:p Cryptophthalmos is the most common abnormality in people with Fraser syndrome. db key
Both eyes are usually completely covered by skin, but in some cases, only one SNOMED CT 204102004
eye is covered or one or both eyes are partially covered. In cryptophthalmos,
the eyes can also be malformed; for example, the eyeballs may be fused to the
skin covering them, or they may be small (microphthalmia) or missing
(anophthalmia). Eye abnormalities typically lead to impairment or loss of vision
in people with Fraser syndrome. Affected individuals can have other problems
related to abnormal eye development, including missing eyebrows or eyelashes or
a patch of hair extending from the side hairline to the eyebrow.
html:p Cutaneous syndactyly typically occurs in both the hands and the feet in Fraser
syndrome. In most people with this feature, the skin between the middle three
fingers and toes are fused, but the other digits can also be involved. Other
abnormalities of the hands and feet can occur in people with Fraser syndrome.
html:p Individuals with Fraser syndrome can have abnormalities of the genitalia, such
as an enlarged clitoris in females or undescended testes (cryptorchidism) in
males. Some affected individuals have external genitalia that do not appear
clearly female or male (ambiguous genitalia).
html:p The most common urinary tract abnormality in Fraser syndrome is the absence of
one or both kidneys (renal agenesis). Affected individuals can have other kidney
problems or abnormalities of the bladder and other parts of the urinary tract.
html:p A variety of other signs and symptoms can be involved in Fraser syndrome,
including heart malformations or abnormalities of the voicebox (larynx) or other
parts of the respiratory tract. Some affected individuals have facial
abnormalities, including ear or nose abnormalities or an opening in the upper
lip (cleft lip) with or without an opening in the roof of the mouth (cleft
palate).
related-gene-list
Frasier syndrome https://ghr.nlm.nih.gov/condition/frasier-syndrome Frasier syndrome is thought to be a rare condition; approximately 50 cases html:p Frasier syndrome is a condition that affects the kidneys and genitalia. ad autosomal dominant WT1 https://ghr.nlm.nih.gov/gene/WT1 FS db key 2013-03 2017-12-29
have been described in the scientific literature. html:p Frasier syndrome is characterized by kidney disease that begins in early GTR C0950122
childhood. Affected individuals have a condition called focal segmental db key
glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the MeSH D052159
tiny blood vessels in the kidneys that filter waste from blood. In people with db key
Frasier syndrome, this condition often leads to kidney failure by adolescence. OMIM 136680
html:p Although males with Frasier syndrome have the typical male chromosome pattern db key
(46,XY), they have gonadal dysgenesis, in which external genitalia do not look Orphanet 347
clearly male or clearly female (ambiguous genitalia) or the genitalia appear db key
completely female. The internal reproductive organs (gonads) are typically SNOMED CT 445431000
undeveloped and referred to as streak gonads. These abnormal gonads are
nonfunctional and often become cancerous, so they are usually removed surgically
early in life.
html:p Affected females usually have normal genitalia and gonads and have only the
kidney features of the condition. Because they do not have all the features of
the condition, females are usually given the diagnosis of isolated nephrotic
syndrome.
related-gene-list
Freeman-Sheldon syndrome https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome Freeman-Sheldon syndrome is a rare disorder; its exact prevalence is html:p Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, ad autosomal dominant MYH3 https://ghr.nlm.nih.gov/gene/MYH3 craniocarpotarsal dysplasia db key 2010-09 2017-12-29
弗里曼-谢尔登综合征 unknown. and feet. People with this disorder have a distinctive facial appearance code memo craniocarpotarsal dystrophy GTR C0265224
吹口哨面容综合征 including a small mouth (microstomia) with pursed lips, giving the appearance of ar autosomal recessive DA2A db key
a "whistling face." For this reason, the condition is sometimes called distal arthrogryposis, type 2A MeSH D003394
"whistling face syndrome." FSS db key
html:p People with Freeman-Sheldon syndrome may also have a prominent forehead and brow whistling face syndrome OMIM 193700
ridges, a sunken appearance of the middle of the face (midface hypoplasia), a whistling face-windmill vane hand syndrome db key
short nose, a long area between the nose and mouth (philtrum), deep folds in the Orphanet 2053
skin between the nose and lips (nasolabial folds), full cheeks, and a chin db key
dimple shaped like an "H" or "V". SNOMED CT 52616002
html:p Affected individuals may have a number of abnormalities that affect the eyes.
These may include widely spaced eyes (hypertelorism), deep-set eyes, outside
corners of the eyes that point downward (down-slanting palpebral fissures), a
narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and
eyes that do not look in the same direction (strabismus).
html:p Other facial features that may occur in Freeman-Sheldon syndrome include an
unusually small tongue (microglossia) and jaw (micrognathia) and a high arch in
the roof of the mouth (high-arched palate). People with this disorder may have
difficulty swallowing (dysphagia), a failure to gain weight and grow at the
expected rate (failure to thrive), and respiratory complications that may be
life-threatening. Speech problems are also common in this disorder. Some
affected individuals have hearing loss.
html:p Freeman-Sheldon syndrome is also characterized by joint deformities
(contractures) that restrict movement. People with this disorder typically have
multiple contractures in the hands and feet at birth (distal arthrogryposis).
These contractures lead to permanently bent fingers and toes (camptodactyly), a
hand deformity in which all of the fingers are angled outward toward the fifth
finger (ulnar deviation, also called "windmill vane hand"), and inward- and
downward-turning feet (clubfoot). Affected individuals may also have a spine
that curves to the side (scoliosis).
html:p People with Freeman-Sheldon syndrome also have an increased risk of developing a
severe reaction to certain drugs used during surgery and other invasive
procedures. This reaction is called malignant hyperthermia. Malignant
hyperthermia occurs in response to some anesthetic gases, which are used to
block the sensation of pain. A particular type of muscle relaxant may also
trigger the reaction. If given these drugs, people at risk for malignant
hyperthermia may experience muscle rigidity, breakdown of muscle fibers
(rhabdomyolysis), a high fever, increased acid levels in the blood and other
tissues (acidosis), and a rapid heart rate. The complications of malignant
hyperthermia can be life-threatening unless they are treated promptly.
html:p Intelligence is unaffected in most people with Freeman-Sheldon syndrome, but
approximately one-third have some degree of intellectual disability.
related-gene-list
Friedreich ataxia https://ghr.nlm.nih.gov/condition/friedreich-ataxia Friedreich ataxia is estimated to affect 1 in 40,000 people in the United html:p Friedreich ataxia is a genetic condition that affects the nervous system and ar autosomal recessive FXN https://ghr.nlm.nih.gov/gene/FXN FA db key 2016-06 2017-12-29
弗裏德賴希共濟失調 States. This condition is found in people with European, Middle Eastern, or causes movement problems. People with this condition develop impaired muscle FRDA GTR C1856689
North African ancestry. It is rarely identified in other ethnic groups. coordination (ataxia) that worsens over time. Other features of this condition Friedreich spinocerebellar ataxia db key
include the gradual loss of strength and sensation in the arms and legs; muscle Friedrich's ataxia GeneReviews friedreich
stiffness (spasticity); and impaired speech, hearing, and vision. Individuals db key
with Friedreich ataxia often have a form of heart disease called hypertrophic MeSH D005621
cardiomyopathy, which enlarges and weakens the heart muscle and can be db key
life-threatening. Some affected individuals develop diabetes or an abnormal OMIM 229300
curvature of the spine (scoliosis). db key
html:p Most people with Friedreich ataxia begin to experience the signs and symptoms of Orphanet 95
the disorder between ages 5 and 15. Poor coordination and balance are often the db key
first noticeable features. Affected individuals typically require the use of a SNOMED CT 10394003
wheelchair about 10 years after signs and symptoms appear.
html:p About 25 percent of people with Friedreich ataxia have an atypical form in which
signs and symptoms begin after age 25. Affected individuals who develop
Friedreich ataxia between ages 26 and 39 are considered to have late-onset
Friedreich ataxia (LOFA). When the signs and symptoms begin after age 40 the
condition is called very late-onset Friedreich ataxia (VLOFA). LOFA and VLOFA
usually progress more slowly than typical Friedreich ataxia.
related-gene-list
Frontometaphyseal dysplasia https://ghr.nlm.nih.gov/condition/frontometaphyseal-dysplasia Frontometaphyseal dysplasia is a rare disorder; only a few dozen cases have html:p Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal xd X-linked dominant FLNA https://ghr.nlm.nih.gov/gene/FLNA FMD db key 2007-11 2017-12-29
額骨骺發育異常 been reported worldwide. development and other health problems. It is a member of a group of related GTR C0265293
conditions called otopalatodigital spectrum disorders, which also includes db key
otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and GeneReviews opd
Melnick-Needles syndrome. In general, these disorders involve hearing loss db key
caused by malformations in the tiny bones in the ears (ossicles), problems in MeSH D010009
the development of the roof of the mouth (palate), and skeletal abnormalities db key
involving the fingers and/or toes (digits). OMIM 305620
html:p Frontometaphyseal dysplasia is distinguished from the other otopalatodigital db key
spectrum disorders by the presence of joint deformities called contractures that Orphanet 1826
restrict the movement of certain joints. People with frontometaphyseal db key
dysplasia may also have bowed limbs, an abnormal curvature of the spine SNOMED CT 62803002
(scoliosis), and abnormalities of the fingers and hands.
html:p Characteristic facial features may include prominent brow ridges; wide-set and
downward-slanting eyes; a very small lower jaw and chin (micrognathia); and
small, missing or misaligned teeth. Some affected individuals have hearing loss.
html:p In addition to skeletal abnormalities, individuals with frontometaphyseal
dysplasia may have obstruction of the ducts between the kidneys and bladder
(ureters), heart defects, or constrictions in the passages leading from the
windpipe to the lungs (the bronchi) that can cause problems with breathing.
html:p Males with frontometaphyseal dysplasia generally have more severe signs and
symptoms of the disorder than do females, who may show only the characteristic
facial features.
related-gene-list
Frontonasal dysplasia https://ghr.nlm.nih.gov/condition/frontonasal-dysplasia Frontonasal dysplasia is likely a rare condition; at least 100 cases have html:p Frontonasal dysplasia is a condition that results from abnormal development of ad autosomal dominant ALX1 https://ghr.nlm.nih.gov/gene/ALX1 FND db key 2014-04 2017-12-29
额鼻发育不良 been reported in the scientific literature. the head and face before birth. People with frontonasal dysplasia have at least code memo related-gene gene-symbol ghr-page FNM GTR C1876203
two of the following features: widely spaced eyes (ocular hypertelorism); a ar autosomal recessive ALX3 https://ghr.nlm.nih.gov/gene/ALX3 frontonasal dysplasia sequence db key
broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a related-gene gene-symbol ghr-page frontonasal malformation GTR C3150703
central cleft involving the nose, upper lip, or roof of the mouth (palate); ALX4 https://ghr.nlm.nih.gov/gene/ALX4 frontorhiny db key
incomplete formation of the front of the skull with skin covering the head where median facial cleft syndrome GTR C3150706
bone should be (anterior cranium bifidum occultum); or a widow's peak hairline. db key
html:p Other features of frontonasal dysplasia can include additional facial MeSH D019465
malformations, absence or malformation of the tissue that connects the left and db key
right halves of the brain (the corpus callosum), and intellectual disability. OMIM 136760
html:p There are at least three types of frontonasal dysplasia that are distinguished db key
by their genetic causes and their signs and symptoms. In addition to the OMIM 613451
features previously described, each type of frontonasal dysplasia is associated db key
with other distinctive features. Individuals with frontonasal dysplasia type 1 OMIM 613456
typically have abnormalities of the nose, a long area between the nose and upper db key
lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal Orphanet 250
dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the db key
two bones that make up much of the top and sides of the skull (enlarged parietal SNOMED CT 254005007
foramina). Males with this form of the condition often have genital db key
abnormalities. Features of frontonasal dysplasia type 3 include eyes that are SNOMED CT 86610004
missing (anophthalmia) or very small (microphthalmia) and low-set ears that are
rotated backward. Frontonasal dysplasia type 3 is typically associated with the
most severe facial abnormalities, but the severity of the condition varies
widely, even among individuals with the same type.
html:p Life expectancy of affected individuals depends on the severity of the
malformations and whether or not surgical intervention can improve associated
health problems, such as breathing and feeding problems caused by the facial
clefts.
related-gene-list
Frontotemporal dementia with parkinsonism-17 https://ghr.nlm.nih.gov/condition/frontotemporal-dementia-with-parkinsonism-17 The worldwide prevalence of FTDP-17 is unknown. In the Netherlands, where html:p Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a brain disorder. It ad autosomal dominant MAPT https://ghr.nlm.nih.gov/gene/MAPT DDPAC db key 2017-03 2017-12-29
the disease prevalence has been studied, it is estimated to affect 1 in 1 is part of a group of conditions, called frontotemporal dementia or disinhibition-dementia-parkinsonism-amytrophy complex GTR C0338451
million people. However, the disorder is likely underdiagnosed, so it may frontotemporal degeneration, that are characterized by a loss of nerve cells familial Pick's disease db key
actually be more common than this estimate.FTDP-17 probably accounts for a small (neurons) in areas of the brain called the frontal and temporal lobes. Over FTDP-17 GeneReviews ftdp-17
percentage of all cases of frontotemporal dementia. time, a loss of these cells can affect personality, behavior, language, and Wilhelmsen-Lynch disease db key
movement. MeSH D057180
html:p The signs and symptoms of FTDP-17 usually become noticeable in a person's db key
forties or fifties. Most affected people survive 5 to 10 years after the OMIM 600274
appearance of symptoms, although a few have survived for two decades or more. db key
html:p Changes in personality and behavior are often early signs of FTDP-17. These Orphanet 282
changes include a loss of inhibition, inappropriate emotional responses, db key
restlessness, neglect of personal hygiene, and a general loss of interest in SNOMED CT 702429008
activities and events. The disease also leads to deterioration of cognitive
functions (dementia), including problems with judgment, planning, and
concentration. Some people with FTDP-17 develop psychiatric symptoms, including
obsessive-compulsive behaviors, strongly held false beliefs (delusions), and
false perceptions (hallucinations). It may become difficult for affected
individuals to interact with others in a socially appropriate manner. They
increasingly require help with personal care and other activities of daily
living.
html:p Many people with FTDP-17 develop problems with speech and language. They may
have trouble finding words, confuse one word with another (semantic
paraphasias), and repeat words spoken by others (echolalia). Difficulties with
speech and language worsen over time, and most affected individuals eventually
lose the ability to communicate.
html:p FTDP-17 is also characterized by problems with movement that worsen over time.
Many affected individuals develop features of parkinsonism, including tremors,
rigidity, and unusually slow movement (bradykinesia). As the disease progresses,
most affected individuals become unable to walk. Some people with FTDP-17 also
have restricted up-and-down eye movement (vertical gaze palsy) and rapid
abnormal movements of both eyes (saccades).
synonym-list db-key-list
Fryns syndrome https://ghr.nlm.nih.gov/condition/fryns-syndrome The worldwide incidence of Fryns syndrome is unknown. More than 50 affected html:p Fryns syndrome is a condition that affects the development of many parts of the ar autosomal recessive key 2017-12-29
Fryns氏症候群 individuals have been reported in the medical literature. Studies suggest that body. The features of this disorder vary widely among affected individuals and db-key C0220730
Fryns syndrome occurs in 1.3 to 10 percent of all cases of congenital overlap with the signs and symptoms of several other disorders. These factors key
diaphragmatic hernia. can make Fryns syndrome difficult to diagnose. db-key fryns
html:p Most people with Fryns syndrome have a defect in the muscle that separates the key
abdomen from the chest cavity (the diaphragm). The most common defect is a db-key D000015
congenital diaphragmatic hernia, which is a hole in the diaphragm that develops key
before birth. This hole allows the stomach and intestines to move into the chest db-key D006548
and crowd the heart and lungs. As a result, the lungs often do not develop key
properly (pulmonary hypoplasia), which can cause life-threatening breathing db-key 229850
difficulties in affected infants. key
html:p Other major signs of Fryns syndrome include abnormalities of the fingers and db-key 2059
toes and distinctive facial features. The tips of the fingers and toes tend to key
be underdeveloped, resulting in a short and stubby appearance with small or 702432006
absent nails. Most affected individuals have several unusual facial features,
including widely spaced eyes (hypertelorism), a broad and flat nasal bridge, a
thick nasal tip, a wide space between the nose and upper lip (a long philtrum),
a large mouth (macrostomia), and a small chin (micrognathia). Many also have
low-set and abnormally shaped ears.
html:p Several additional features have been reported in people with Fryns syndrome.
These include small eyes (microphthalmia), clouding of the clear outer covering
of the eye (the cornea), and an opening in the roof of the mouth (cleft palate)
with or without a split in the lip (cleft lip). Fryns syndrome can also affect
the development of the brain, cardiovascular system, gastrointestinal system,
kidneys, and genitalia.
html:p Most people with Fryns syndrome die before birth or in early infancy from
pulmonary hypoplasia caused by a congenital diaphragmatic hernia. However, a few
affected individuals have lived into childhood. Many of these children have had
severe developmental delay and intellectual disability.
related-gene-list
Fuchs endothelial dystrophy https://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy The late-onset form of Fuchs endothelial dystrophy is a common condition, html:p Fuchs endothelial dystrophy is a condition that causes vision problems. The ad autosomal dominant COL8A2 https://ghr.nlm.nih.gov/gene/COL8A2 Fuchs atrophy db key 2011-06 2017-12-29
費氏角膜内皮营养不良 affecting approximately 4 percent of people over the age of 40. The early-onset first symptom of this condition is typically blurred vision in the morning that related-gene gene-symbol ghr-page Fuchs corneal dystrophy GTR C1850959
(Vision) variant of Fuchs endothelial dystrophy is rare, although the exact prevalence is usually clears during the day. Over time, affected individuals lose the ability SLC4A11 https://ghr.nlm.nih.gov/gene/SLC4A11 Fuchs dystrophy db key
unknown.For reasons that are unclear, women are affected with Fuchs endothelial to see details (visual acuity). People with Fuchs endothelial dystrophy also related-gene gene-symbol ghr-page Fuchs endothelial corneal dystrophy GTR C1857800
dystrophy somewhat more frequently than men. become sensitive to bright lights. TCF4 https://ghr.nlm.nih.gov/gene/TCF4 Fuchs' endothelial dystrophy db key
html:p Fuchs endothelial dystrophy specifically affects the front surface of the eye related-gene gene-symbol ghr-page GTR C2750447
called the cornea. Deposits called guttae, which are detectable during an eye ZEB1 https://ghr.nlm.nih.gov/gene/ZEB1 db key
exam, form in the middle of the cornea and eventually spread. These guttae GTR C2750448
contribute to the loss of cells in the cornea, leading to vision problems. Tiny db key
blisters may develop on the cornea, which can burst and cause eye pain. GTR C2750449
html:p The signs and symptoms of Fuchs endothelial dystrophy usually begin in a db key
person's forties or fifties. A very rare early-onset variant of this condition GTR C2750450
starts to affect vision in a person's twenties. db key
GTR C2750451
db key
ICD-10-CM H18.51
db key
MeSH D005642
db key
OMIM 136800
db key
OMIM 610158
db key
OMIM 613267
db key
OMIM 613268
db key
OMIM 613269
db key
OMIM 613270
db key
OMIM 613271
db key
Orphanet 98974
db key
related-gene-list SNOMED CT 193839007
Fucosidosis https://ghr.nlm.nih.gov/condition/fucosidosis Fucosidosis is a rare condition; approximately 100 cases have been reported html:p Fucosidosis is a condition that affects many areas of the body, especially the ar autosomal recessive FUCA1 https://ghr.nlm.nih.gov/gene/FUCA1 Alpha-fucosidase deficiency db key 2008-12 2017-12-29
岩糖酵素缺乏症(儲積症) worldwide. This condition appears to be most prevalent in Italy, Cuba, and the brain. Affected individuals have intellectual disability that worsens with age, Fucosidase deficiency GTR C0016788
southwestern United States. and many develop dementia later in life. People with this condition often have Fucosidase Deficiency Disease db key
delayed development of motor skills such as walking; the skills they do acquire ICD-10-CM E77.1
deteriorate over time. Additional signs and symptoms of fucosidosis include db key
impaired growth; abnormal bone development (dysostosis multiplex); seizures; MeSH D005645
abnormal muscle stiffness (spasticity); clusters of enlarged blood vessels db key
forming small, dark red spots on the skin (angiokeratomas); distinctive facial OMIM 230000
features that are often described as "coarse"; recurrent respiratory infections; db key
and abnormally large abdominal organs (visceromegaly). Orphanet 349
html:p In severe cases, symptoms typically appear in infancy, and affected individuals db key
usually live into late childhood. In milder cases, symptoms begin at age 1 or SNOMED CT 399045007
2, and affected individuals tend to survive into mid-adulthood. db key
html:p In the past, researchers described two types of this condition based on symptoms SNOMED CT 61172008
and age of onset, but current opinion is that the two types are actually a db key
single disorder with signs and symptoms that range in severity. SNOMED CT 64716005
related-gene-list
Fukuyama congenital muscular dystrophy https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy Fukuyama congenital muscular dystrophy is seen almost exclusively in Japan, html:p Fukuyama congenital muscular dystrophy is an inherited condition that ar autosomal recessive FKTN https://ghr.nlm.nih.gov/gene/FKTN Cerebromuscular dystrophy, Fukuyama type db key 2008-08 2017-12-29
先天性肌失養症 where it is the second most common form of childhood muscular dystrophy (after predominantly affects the muscles, brain, and eyes. Congenital muscular FCMD GTR C0410174
Duchenne muscular dystrophy). Fukuyama congenital muscular dystrophy has an dystrophies are a group of genetic conditions that cause muscle weakness and Fukuyama CMD db key
estimated incidence of 2 to 4 per 100,000 Japanese infants. wasting (atrophy) beginning very early in life. Fukuyama muscular dystrophy GeneReviews cmd-overview
html:p Fukuyama congenital muscular dystrophy affects the skeletal muscles, which are Fukuyama syndrome db key
muscles the body uses for movement. The first signs of the disorder appear in Fukuyama type congenital muscular dystrophy GeneReviews fcmd
early infancy and include a weak cry, poor feeding, and weak muscle tone Muscular dystrophy, congenital progressive, with mental retardation db key
(hypotonia). Weakness of the facial muscles often leads to a distinctive facial Muscular dystrophy, congenital, Fukuyama type MeSH D009136
appearance including droopy eyelids (ptosis) and an open mouth. In childhood, Muscular dystrophy, congenital, with central nervous system involvement db key
muscle weakness and joint deformities (contractures) restrict movement and Polymicrogyria with muscular dystrophy OMIM 253800
interfere with the development of motor skills such as sitting, standing, and db key
walking. Orphanet 272
html:p Fukuyama congenital muscular dystrophy also impairs brain development. People db key
with this condition have a brain abnormality called cobblestone lissencephaly, SNOMED CT 111502003
in which the surface of the brain develops a bumpy, irregular appearance (like
that of cobblestones). These changes in the structure of the brain lead to
significantly delayed development of speech and motor skills and moderate to
severe intellectual disability. Social skills are less severely impaired. Most
children with Fukuyama congenital muscular dystrophy are never able to stand or
walk, although some can sit without support and slide across the floor in a
seated position. More than half of all affected children also experience
seizures.
html:p Other signs and symptoms of Fukuyama congenital muscular dystrophy include
impaired vision, other eye abnormalities, and slowly progressive heart problems
after age 10. As the disease progresses, affected people may develop swallowing
difficulties that can lead to a bacterial lung infection called aspiration
pneumonia. Because of the serious medical problems associated with Fukuyama
congenital muscular dystrophy, most people with the disorder live only into late
childhood or adolescence.
related-gene-list
Fumarase deficiency https://ghr.nlm.nih.gov/condition/fumarase-deficiency Fumarase deficiency is a very rare disorder. Approximately 100 affected html:p Fumarase deficiency is a condition that primarily affects the nervous system, ar autosomal recessive FH https://ghr.nlm.nih.gov/gene/FH fumarate hydratase deficiency db key 2017-09 2017-12-29
延胡索酸酶缺乏 individuals have been reported worldwide. Several were born in an isolated especially the brain. Affected infants may have an abnormally small head size fumaric aciduria GTR C0342770
religious community in the southwestern United States. (microcephaly), abnormal brain structure, severe developmental delay, weak db key
muscle tone (hypotonia), and failure to gain weight and grow at the expected GeneReviews fum
rate (failure to thrive). They may also experience seizures. Some people with db key
this disorder have unusual facial features, including a prominent forehead MeSH D008661
(frontal bossing), low-set ears, a small jaw (micrognathia), widely spaced eyes db key
(ocular hypertelorism), and a depressed nasal bridge. An enlarged liver and OMIM 606812
spleen (hepatosplenomegaly) may also be associated with this disorder, as well db key
as an excess of red blood cells (polycythemia) or deficiency of white blood Orphanet 24
cells (leukopenia) in infancy. Affected individuals usually survive only a few db key
months, but a few have lived into early adulthood. SNOMED CT 124616002
db key
related-gene-list SNOMED CT 237983002
Fundus albipunctatus https://ghr.nlm.nih.gov/condition/fundus-albipunctatus Fundus albipunctatus is a rare disorder. Its prevalence is unknown. html:p Fundus albipunctatus is an eye disorder characterized by an impaired ability to ar autosomal recessive RDH5 https://ghr.nlm.nih.gov/gene/RDH5 albipunctate retinal dystrophy db key 2017-02 2017-12-29
眼底白斑 see in low light (night blindness) and the presence of whitish-yellow flecks in related-gene gene-symbol ghr-page Lauber's disease GTR C0311338
the retina, which is the specialized light-sensitive tissue in the inner lining RLBP1 https://ghr.nlm.nih.gov/gene/RLBP1 pigmentary retinal dystrophy db key
of the back of the eye (the fundus). The flecks are detected during an eye related-gene gene-symbol ghr-page ICD-10-CM H35.52
examination. RPE65 https://ghr.nlm.nih.gov/gene/RPE65 db key
html:p Individuals with fundus albipunctatus experience night blindness from an early MeSH D009755
age. In particular, they have delayed dark adaptation, which means they have db key
trouble adapting from bright light to dark conditions, such as when driving into MeSH D015785
a dark tunnel on a sunny day. It often takes hours for adaptation to occur. db key
Their vision in bright light is usually normal. OMIM 136880
html:p The flecks are especially abundant near the outer edge (the periphery) of the db key
retina. Their density varies among affected individuals; some people have Orphanet 227796
numerous flecks that overlap, while others have fewer. For unknown reasons, the db key
flecks get smaller or fade with age in some affected individuals, although night SNOMED CT 68222009
vision does not improve.
html:p While fundus albipunctatus typically does not worsen (progress) over time, some
individuals with the condition develop other eye conditions, such as breakdown
of the central region of the retina known as the macula (macular dystrophy) with
loss of specialized light receptor cells called cones, which can affect vision
in bright light.
related-gene-list
Galactosemia https://ghr.nlm.nih.gov/condition/galactosemia Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. html:p Galactosemia is a disorder that affects how the body processes a simple sugar ar autosomal recessive GALE https://ghr.nlm.nih.gov/gene/GALE classic galactosemia db key 2015-08 2017-12-29
半乳糖血症 Galactosemia type II and type III are less common; type II probably affects called galactose. A small amount of galactose is present in many foods. It is related-gene gene-symbol ghr-page epimerase deficiency galactosemia GTR C0016952
fewer than 1 in 100,000 newborns and type III appears to be very rare. primarily part of a larger sugar called lactose, which is found in all dairy GALK1 https://ghr.nlm.nih.gov/gene/GALK1 galactokinase deficiency disease db key
products and many baby formulas. The signs and symptoms of galactosemia result related-gene gene-symbol ghr-page galactose-1-phosphate uridyl-transferase deficiency disease GTR C0268151
from an inability to use galactose to produce energy. GALT https://ghr.nlm.nih.gov/gene/GALT galactose epimerase deficiency db key
html:p Researchers have identified several types of galactosemia. These conditions are GALE deficiency GTR C0268155
each caused by mutations in a particular gene and affect different enzymes GALK deficiency db key
involved in breaking down galactose. GALT deficiency GTR C0751161
html:p Classic galactosemia, also known as type I, is the most common and most severe UDP-galactose-4-epimerase deficiency disease db key
form of the condition. If infants with classic galactosemia are not treated UTP hexose-1-phosphate uridylyltransferase deficiency GeneReviews duarte-gal
promptly with a low-galactose diet, life-threatening complications appear within db key
a few days after birth. Affected infants typically develop feeding GeneReviews galactosemia
difficulties, a lack of energy (lethargy), a failure to gain weight and grow as db key
expected (failure to thrive), yellowing of the skin and whites of the eyes GeneReviews gale-def
(jaundice), liver damage, and abnormal bleeding. Other serious complications of db key
this condition can include overwhelming bacterial infections (sepsis) and shock. ICD-10-CM E74.21
Affected children are also at increased risk of delayed development, clouding db key
of the lens of the eye (cataract), speech difficulties, and intellectual MeSH D005693
disability. Females with classic galactosemia may develop reproductive problems db key
caused by an early loss of function of the ovaries (premature ovarian OMIM 230200
insufficiency). db key
html:p Galactosemia type II (also called galactokinase deficiency) and type III (also OMIM 230350
called galactose epimerase deficiency) cause different patterns of signs and db key
symptoms. Galactosemia type II causes fewer medical problems than the classic OMIM 230400
type. Affected infants develop cataracts but otherwise experience few long-term db key
complications. The signs and symptoms of galactosemia type III vary from mild to Orphanet 352
severe and can include cataracts, delayed growth and development, intellectual db key
disability, liver disease, and kidney problems. SNOMED CT 124302001
db key
SNOMED CT 124354006
db key
SNOMED CT 190745006
db key
related-gene-list SNOMED CT 8849004
Galactosialidosis https://ghr.nlm.nih.gov/condition/galactosialidosis The prevalence of galactosialidosis is unknown; more than 100 cases have html:p Galactosialidosis is a condition that affects many areas of the body. The three ar autosomal recessive CTSA https://ghr.nlm.nih.gov/gene/CTSA deficiency of cathepsin A db key 2009-02 2017-12-29
半乳糖唾液酸贮积症 been reported. Approximately 60 percent of people with galactosialidosis have forms of galactosialidosis are distinguished by the age at which symptoms Goldberg syndrome GTR C0268233
the juvenile/adult form. Most people with this type of the condition are of develop and the pattern of features. lysosomal protective protein deficiency db key
Japanese descent. html:p The early infantile form of galactosialidosis is associated with extensive neuraminidase deficiency with beta-galactosidase deficiency MeSH D020140
swelling caused by fluid accumulation before birth (hydrops fetalis), a soft PPCA deficiency db key
out-pouching in the lower abdomen (an inguinal hernia), and an enlarged liver OMIM 256540
and spleen (hepatosplenomegaly). Additional features of this form include db key
abnormal bone development (dysostosis multiplex) and distinctive facial features Orphanet 351
that are often described as "coarse." Some infants have an enlarged heart db key
(cardiomegaly); an eye abnormality called a cherry-red spot, which can be SNOMED CT 35691006
identified with an eye examination; and kidney disease that can progress to
kidney failure. Infants with this form usually are diagnosed between birth and
3 months; they typically live into late infancy.
html:p The late infantile form of galactosialidosis shares some features with the early
infantile form, although the signs and symptoms are somewhat less severe and
begin later in infancy. This form is characterized by short stature, dysostosis
multiplex, heart valve problems, hepatosplenomegaly, and "coarse" facial
features. Other symptoms seen in some individuals with this type include
intellectual disability, hearing loss, and a cherry-red spot. Children with
this condition typically develop symptoms within the first year of life. The
life expectancy of individuals with this type varies depending on the severity
of symptoms.
html:p The juvenile/adult form of galactosialidosis has signs and symptoms that are
somewhat different than those of the other two types. This form is
distinguished by difficulty coordinating movements (ataxia), muscle twitches
(myoclonus), seizures, and progressive intellectual disability. People with
this form typically also have dark red spots on the skin (angiokeratomas),
abnormalities in the bones of the spine, "coarse" facial features, a cherry-red
spot, vision loss, and hearing loss. The age at which symptoms begin to develop
varies widely among affected individuals, but the average age is 16. This form
is typically associated with a normal life expectancy.
Galloway-Mowat Syndrome (Microcephaly, Hiatus hernia, andNephrotic Syndrome)
Galloway-Mowat症候群 (小頭-橫隔裂孔疝氣-腎病症候群)
related-gene-list
Gastrointestinal stromal tumor https://ghr.nlm.nih.gov/condition/gastrointestinal-stromal-tumor Approximately 5,000 new cases of GIST are diagnosed in the United States html:p A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the ad autosomal dominant BRAF https://ghr.nlm.nih.gov/gene/BRAF gastrointestinal stromal neoplasm db key 2014-09 2017-12-29
胃腸道基質瘤 each year. However, GISTs may be more common than this estimate because small gastrointestinal tract, most commonly in the stomach or small intestine. The code memo related-gene gene-symbol ghr-page gastrointestinal stromal sarcoma GTR C0238198
(Tumor) tumors may remain undiagnosed. tumors are thought to grow from specialized cells found in the gastrointestinal ar autosomal recessive KIT https://ghr.nlm.nih.gov/gene/KIT GIST db key
tract called interstitial cells of Cajal (ICCs) or precursors to these cells. related-gene gene-symbol ghr-page MeSH D046152
GISTs are usually found in adults between ages 40 and 70; rarely, children and PDGFRA https://ghr.nlm.nih.gov/gene/PDGFRA db key
young adults develop these tumors. The tumors can be cancerous (malignant) or related-gene gene-symbol ghr-page OMIM 606764
noncancerous (benign). SDHA https://ghr.nlm.nih.gov/gene/SDHA db key
html:p Small tumors may cause no signs or symptoms. However, some people with GISTs may related-gene gene-symbol ghr-page Orphanet 44890
experience pain or swelling in the abdomen, nausea, vomiting, loss of appetite, SDHB https://ghr.nlm.nih.gov/gene/SDHB db key
or weight loss. Sometimes, tumors cause bleeding, which may lead to low red related-gene gene-symbol ghr-page SNOMED CT 420120006
blood cell counts (anemia) and, consequently, weakness and tiredness. Bleeding SDHC https://ghr.nlm.nih.gov/gene/SDHC
into the intestinal tract may cause black and tarry stools, and bleeding into related-gene gene-symbol ghr-page
the throat or stomach may cause vomiting of blood. SDHD https://ghr.nlm.nih.gov/gene/SDHD
html:p Affected individuals with no family history of GIST typically have only one
tumor (called a sporadic GIST). People with a family history of GISTs (called
familial GISTs) often have multiple tumors and additional signs or symptoms,
including noncancerous overgrowth (hyperplasia) of other cells in the
gastrointestinal tract and patches of dark skin on various areas of the body.
Some affected individuals have a skin condition called urticaria pigmentosa
(also known as cutaneous mastocytosis), which is characterized by raised patches
of brownish skin that sting or itch when touched.
related-gene-list
Gaucher disease https://ghr.nlm.nih.gov/condition/gaucher-disease Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general html:p Gaucher disease is an inherited disorder that affects many of the body's organs ar autosomal recessive GBA https://ghr.nlm.nih.gov/gene/GBA cerebroside lipidosis syndrome db key 2014-09 2017-12-29
高雪氏症 population. Type 1 is the most common form of the disorder; it occurs more and tissues. The signs and symptoms of this condition vary widely among Gaucher splenomegaly GTR C0017205
frequently in people of Ashkenazi (eastern and central European) Jewish heritage affected individuals. Researchers have described several types of Gaucher Gaucher syndrome db key
than in those with other backgrounds. This form of the condition affects 1 in disease based on their characteristic features. Gaucher's disease GTR C0268250
500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher html:p Type 1 Gaucher disease is the most common form of this condition. Type 1 is Gauchers disease db key
disease are uncommon and do not occur more frequently in people of Ashkenazi also called non-neuronopathic Gaucher disease because the brain and spinal cord GD GTR C0268251
Jewish descent. (the central nervous system) are usually not affected. The features of this glucocerebrosidase deficiency db key
condition range from mild to severe and may appear anytime from childhood to glucocerebrosidosis GTR C1856476
adulthood. Major signs and symptoms include enlargement of the liver and spleen glucosyl cerebroside lipidosis db key
(hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising glucosylceramidase deficiency GTR C1856491
caused by a decrease in blood platelets (thrombocytopenia), lung disease, and glucosylceramide beta-glucosidase deficiency db key
bone abnormalities such as bone pain, fractures, and arthritis. glucosylceramide lipidosis GTR C1856492
html:p Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder kerasin histiocytosis db key
because they are characterized by problems that affect the central nervous kerasin lipoidosis GTR C1961835
system. In addition to the signs and symptoms described above, these conditions kerasin thesaurismosis db key
can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher lipoid histiocytosis (kerasin type) GeneReviews gaucher
disease usually causes life-threatening medical problems beginning in infancy. db key
Type 3 Gaucher disease also affects the nervous system, but it tends to worsen ICD-10-CM E75.22
more slowly than type 2. db key
html:p The most severe type of Gaucher disease is called the perinatal lethal form. MeSH D005776
This condition causes severe or life-threatening complications starting before db key
birth or in infancy. Features of the perinatal lethal form can include OMIM 230800
extensive swelling caused by fluid accumulation before birth (hydrops fetalis); db key
dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; OMIM 230900
distinctive facial features; and serious neurological problems. As its name db key
indicates, most infants with the perinatal lethal form of Gaucher disease OMIM 231000
survive for only a few days after birth. db key
html:p Another form of Gaucher disease is known as the cardiovascular type because it OMIM 231005
primarily affects the heart, causing the heart valves to harden (calcify). db key
People with the cardiovascular form of Gaucher disease may also have eye Orphanet 355
abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly). db key
Orphanet 2072
db key
SNOMED CT 12246008
db key
SNOMED CT 190794006
db key
SNOMED CT 5963005
db key
related-gene-list SNOMED CT 62201009
Geleophysic dysplasia https://ghr.nlm.nih.gov/condition/geleophysic-dysplasia Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More html:p Geleophysic dysplasia is an inherited condition that affects many parts of the ar autosomal recessive ADAMTSL2 https://ghr.nlm.nih.gov/gene/ADAMTSL2 geleophysic dwarfism db key 2009-12 2017-12-29
Geleophysic發育不良 than 30 affected individuals have been reported. body. It is characterized by abnormalities involving the bones, joints, heart, related-gene gene-symbol ghr-page GTR C3280054
and skin. FBN1 https://ghr.nlm.nih.gov/gene/FBN1 db key
html:p People with geleophysic dysplasia have short stature with very short hands and GeneReviews geleophys-dysp
feet. Most also develop thickened skin and joint deformities called db key
contractures, both of which significantly limit mobility. Affected individuals MeSH D009139
usually have a limited range of motion in their fingers, toes, wrists, and db key
elbows. Additionally, contractures in the legs and hips cause many affected MeSH D017880
people to walk on their toes. db key
html:p The name of this condition, which comes from the Greek words for happy OMIM 231050
("gelios") and nature ("physis"), is derived from the good-natured facial db key
appearance seen in most affected individuals. The distinctive facial features OMIM 614185
associated with this condition include a round face with full cheeks, a small db key
nose with upturned nostrils, a broad nasal bridge, a thin upper lip, upturned Orphanet 2623
corners of the mouth, and a flat area between the upper lip and the nose db key
(philtrum). SNOMED CT 28557005
html:p Geleophysic dysplasia is also characterized by heart (cardiac) problems,
particularly abnormalities of the cardiac valves. These valves normally control
the flow of blood through the heart. In people with geleophysic dysplasia, the
cardiac valves thicken, which impedes blood flow and increases blood pressure in
the heart. Other heart problems have also been reported in people with
geleophysic dysplasia; these include a narrowing of the artery from the heart to
the lungs (pulmonary stenosis) and a hole between the two upper chambers of the
heart (atrial septal defect).
html:p Other features of geleophysic dysplasia can include an enlarged liver
(hepatomegaly) and recurrent respiratory and ear infections. In severe cases, a
narrowing of the windpipe (tracheal stenosis) can cause serious breathing
problems. As a result of heart and respiratory abnormalities, geleophysic
dysplasia is often life-threatening in childhood. However, some affected people
have lived into adulthood.
related-gene-list
Generalized arterial calcification of infancy https://ghr.nlm.nih.gov/condition/generalized-arterial-calcification-of-infancy The prevalence of GACI has been estimated to be about 1 in 391,000. At html:p Generalized arterial calcification of infancy (GACI) is a disorder affecting the ar autosomal recessive ABCC6 https://ghr.nlm.nih.gov/gene/ABCC6 arteriopathia calcificans infantum db key 2015-01 2017-12-29
Idiopathic Infantile Arterial Calcification least 200 affected individuals have been described in the medical literature. circulatory system that becomes apparent before birth or within the first few related-gene gene-symbol ghr-page diffuse arterial calcifying elastopathy of infancy GTR C3276161
特發性嬰兒動脈硬化 months of life. It is characterized by abnormal accumulation of the mineral ENPP1 https://ghr.nlm.nih.gov/gene/ENPP1 GACI db key
calcium (calcification) in the walls of the blood vessels that carry blood from idiopathic infantile arterial calcification GeneReviews gaci
the heart to the rest of the body (the arteries). This calcification often idiopathic obliterative arteriopathy db key
occurs along with thickening of the lining of the arterial walls (the intima). IIAC MeSH D061205
These changes lead to narrowing (stenosis) and stiffness of the arteries, which infantile calcifying arteriopathy db key
forces the heart to work harder to pump blood. As a result, heart failure may medial coronary sclerosis of infancy OMIM 208000
develop in affected individuals, with signs and symptoms including difficulty occlusive infantile arteriopathy db key
breathing, accumulation of fluid (edema) in the extremities, a bluish appearance OMIM 614473
of the skin or lips (cyanosis), severe high blood pressure (hypertension), and db key
an enlarged heart (cardiomegaly). Orphanet 51608
html:p People with GACI may also have calcification in other organs and tissues, db key
particularly around the joints. In addition, they may have hearing loss or SNOMED CT 68926002
softening and weakening of the bones (rickets).
html:p Some individuals with GACI also develop features similar to those of another
disorder called pseudoxanthoma elasticum (PXE). PXE is characterized by the
accumulation of calcium and other minerals (mineralization) in elastic fibers,
which are a component of connective tissue. Connective tissue provides strength
and flexibility to structures throughout the body. Features characteristic of
PXE that also occur in GACI include yellowish bumps called papules on the
underarms and other areas of skin that touch when a joint bends (flexor areas);
and abnormalities called angioid streaks affecting tissue at the back of the
eye, which can be detected during an eye examination.
html:p As a result of the cardiovascular problems associated with GACI, individuals
with this condition often do not survive past infancy, with death typically
caused by a heart attack or stroke. However, affected individuals who survive
their first six months, known as the critical period, can live into adolescence
or early adulthood.
related-gene-list
Generalized pustular psoriasis https://ghr.nlm.nih.gov/condition/generalized-pustular-psoriasis GPP is the rarest form of psoriasis. Although the worldwide prevalence of html:p Generalized pustular psoriasis (GPP) is a severe form of a skin disorder called ad autosomal dominant AP1S3 https://ghr.nlm.nih.gov/gene/AP1S3 acute generalised pustular psoriasis db key 2017-05 2017-12-29
一般性膿皰牛皮癬 GPP is unknown, the condition is estimated to affect 2 per million people in psoriasis. GPP and other forms of psoriasis are caused by abnormal inflammation. code memo related-gene gene-symbol ghr-page deficiency of the interleukin-36 receptor antagonist GTR C0343055
Europe. It also occurs in approximately 0.6 per million people each year in Inflammation is a normal immune system response to injury and foreign invaders ar autosomal recessive CARD14 https://ghr.nlm.nih.gov/gene/CARD14 DITRA db key
Japan. (such as bacteria). However, when inflammation is abnormal and uncontrolled, it related-gene gene-symbol ghr-page generalized pustular psoriasis of von Zumbusch GTR C4015235
can damage the body's tissues and organs. Individuals with GPP have repeated IL36RN https://ghr.nlm.nih.gov/gene/IL36RN GPP db key
episodes in which large areas of skin become red and inflamed and develop small von Zumbusch psoriasis ICD-10-CM L40.1
pus-filled blisters (pustules). The skin problems can be accompanied by fever, db key
extreme tiredness (fatigue), muscle weakness, an increased number of white blood MeSH D011565
cells, and other signs of inflammation throughout the body (systemic db key
inflammation). The inflammation problems subside and reappear often. Episodes OMIM 602723
can be triggered by infection, exposure to or withdrawal from certain db key
medications, menstruation, or pregnancy, although the trigger is often unknown. OMIM 614204
GPP can be life-threatening if not treated. db key
html:p While many affected individuals have features only of GPP (called GPP alone), OMIM 616106
some develop features of another skin condition called psoriasis vulgaris (PV), db key
either before or after GPP appears. PV, the most common form of psoriasis, is Orphanet 247353
characterized by red, scaly patches of skin (plaques) on parts of the body. db key
related-gene-list SNOMED CT 238612002
Genetic epilepsy with febrile seizures plus https://ghr.nlm.nih.gov/condition/genetic-epilepsy-with-febrile-seizures-plus GEFS+ is a rare condition. Its prevalence is unknown. html:p Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure ad autosomal dominant GABRD https://ghr.nlm.nih.gov/gene/GABRD GEFS+ db key 2017-07 2017-12-29
disorders of varying severity. GEFS+ is usually diagnosed in families whose related-gene gene-symbol ghr-page generalized epilepsy with febrile seizures plus GTR C1858672
members have a combination of febrile seizures, which are triggered by a high GABRG2 https://ghr.nlm.nih.gov/gene/GABRG2 db key
fever, and recurrent seizures (epilepsy) of other types, including seizures that related-gene gene-symbol ghr-page GTR C1858673
are not related to fevers (afebrile seizures). The additional seizure types SCN1A https://ghr.nlm.nih.gov/gene/SCN1A db key
usually involve both sides of the brain (generalized seizures); however, related-gene gene-symbol ghr-page GTR C1858674
seizures that involve only one side of the brain (partial seizures) occur in SCN1B https://ghr.nlm.nih.gov/gene/SCN1B db key
some affected individuals. The most common types of seizure in people with GEFS+ related-gene gene-symbol ghr-page GTR C2751777
include myoclonic seizures, which cause involuntary muscle twitches; atonic SCN2A https://ghr.nlm.nih.gov/gene/SCN2A db key
seizures, which involve sudden episodes of weak muscle tone; and absence related-gene gene-symbol ghr-page GTR C3150401
seizures, which cause loss of consciousness for short periods that appear as SCN9A https://ghr.nlm.nih.gov/gene/SCN9A db key
staring spells. related-gene gene-symbol ghr-page GTR C3502809
html:p The most common and mildest feature of the GEFS+ spectrum is simple febrile STX1B https://ghr.nlm.nih.gov/gene/STX1B db key
seizures, which begin in infancy and usually stop by age 5. When the febrile GTR C4015395
seizures continue after age 5 or other types of seizure develop, the condition db key
is called febrile seizures plus (FS+). Seizures in FS+ usually end in early GTR CN120574
adolescence. db key
html:p A condition called Dravet syndrome (also known as severe myoclonic epilepsy of GeneReviews gefs
infancy 嬰兒重度肌陣攣癲癇 or SMEI) is often considered part of the GEFS+ spectrum and is the most db key
severe disorder in this group. Affected infants typically have prolonged MeSH D003294
seizures lasting several minutes (status epilepticus), which are triggered by db key
fever. Other seizure types, including afebrile seizures, begin in early MeSH D004827
childhood. These types can include myoclonic or absence seizures. In Dravet db key
syndrome, these seizures are difficult to control with medication, and they can OMIM 604233
worsen over time. A decline in brain function is also common in Dravet syndrome. db key
Affected individuals usually develop normally in the first year of life, but OMIM 604403
then development stalls, and some affected children lose already-acquired skills db key
(developmental regression). Many people with Dravet syndrome have difficulty OMIM 611277
coordinating movements (ataxia) and intellectual disability. db key
html:p Some people with GEFS+ have seizure disorders of intermediate severity that may OMIM 613060
not fit into the classical diagnosis of simple febrile seizures, FS+, or Dravet db key
syndrome. OMIM 613863
html:p Family members with GEFS+ may have different combinations of febrile seizures db key
and epilepsy. For example, one affected family member may have only febrile OMIM 616172
seizures, while another also has myoclonic epilepsy. While GEFS+ is usually db key
diagnosed in families, it can occur in individuals with no history of the Orphanet 33069
condition in their family. db key
Orphanet 36387
db key
related-gene-list SNOMED CT 699688008
Genitopatellar syndrome https://ghr.nlm.nih.gov/condition/genitopatellar-syndrome Genitopatellar syndrome is estimated to occur in fewer than 1 per million html:p Genitopatellar syndrome is a rare condition characterized by genital ad autosomal dominant KAT6B https://ghr.nlm.nih.gov/gene/KAT6B absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and db key 2013-02 2017-12-29
生殖器-髌骨综合征 people. At least 18 cases have been reported in the medical literature. abnormalities, missing or underdeveloped kneecaps (patellae), intellectual mental retardation GTR C1853566
disability, and abnormalities affecting other parts of the body. GPS db key
html:p The genital abnormalities in affected males typically include undescended testes GeneReviews kat6b-dis
(cryptorchidism) and underdevelopment of the scrotum. Affected females can have db key
an enlarged clitoris (clitoromegaly) and small labia. MeSH D000015
html:p Missing or underdeveloped patellae is the most common skeletal abnormality db key
associated with genitopatellar syndrome. Affected individuals may have MeSH D008607
additional skeletal problems, including joint deformities (contractures) db key
involving the hips and knees or an inward- and upward-turning foot called a MeSH D014564
clubfoot. Bone abnormalities of the spine, ribs, collarbone (clavicle), and db key
pelvis have also been reported. OMIM 606170
html:p Genitopatellar syndrome is also associated with delayed development and db key
intellectual disability, which are often severe. Affected individuals may have Orphanet 85201
an usually small head (microcephaly) and structural brain abnormalities, db key
including underdeveloped or absent tissue connecting the left and right halves SNOMED CT 702367005
of the brain (agenesis of the corpus callosum).
html:p People with genitopatellar syndrome may have distinctive facial features such as
prominent cheeks and eyes, a nose with a rounded tip or a broad bridge, an
unusually small chin (micrognathia) or a chin that protrudes (prognathism), and
a narrowing of the head at the temples. Many affected infants have weak muscle
tone (hypotonia) that leads to breathing and feeding difficulties. The condition
can also be associated with abnormalities of the heart, kidneys, and teeth.
related-gene-list
Ghosal hematodiaphyseal dysplasia https://ghr.nlm.nih.gov/condition/ghosal-hematodiaphyseal-dysplasia Ghosal hematodiaphyseal dysplasia is a rare disorder; only a few cases have html:p Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by ar autosomal recessive TBXAS1 https://ghr.nlm.nih.gov/gene/TBXAS1 diaphyseal dysplasia associated with anemia db key 2014-03 2017-12-29
been reported in the medical literature. Most affected individuals have been abnormally thick bones and a shortage of red blood cells (anemia). Signs and GHDD GTR C1856465
from the Middle East and India. symptoms of the condition become apparent in early childhood. Ghosal hemato-diaphyseal dysplasia db key
html:p In affected individuals, the long bones in the arms and legs are unusually dense Ghosal syndrome MeSH D010009
and wide. The bone changes specifically affect the shafts of the long bones, Ghosal-type hemato-diaphyseal dysplasia db key
called diaphyses, and areas near the ends of the bones called metaphyses. The OMIM 231095
bone abnormalities can lead to bowing of the legs and difficulty walking. db key
html:p Ghosal hematodiaphyseal dysplasia also causes scarring (fibrosis) of the bone Orphanet 1802
marrow, which is the spongy tissue inside long bones where blood cells are db key
formed. The abnormal bone marrow cannot produce enough red blood cells, which SNOMED CT 389214003
leads to anemia.Signs and symptoms of anemia that have been reported in people
with Ghosal hematodiaphyseal dysplasia include extremely pale skin (pallor) and
excessive tiredness (fatigue).
related-gene-list
Giant axonal neuropathy https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy Giant axonal neuropathy is a very rare disorder; only about 50 affected html:p Giant axonal neuropathy is an inherited condition characterized by abnormally ar autosomal recessive GAN https://ghr.nlm.nih.gov/gene/GAN GAN db key 2016-09 2017-12-29
巨大軸索神經病變 families have been described in the medical literature. The condition is thought large and dysfunctional axons called giant axons. Axons are specialized giant axonal disease GTR C1850386
to be under-diagnosed because its early symptoms resemble those of other, more extensions of nerve cells (neurons) that transmit nerve impulses. Symptoms of db key
common disorders affecting the peripheral nervous system, such as the disorder first become apparent in the peripheral nervous system, in which GeneReviews gan
Charcot-Marie-Tooth disease. long axons connect the brain and spinal cord (central nervous system) to muscles db key
and to sensory cells that detect sensations such as touch, pain, heat, and MeSH D056768
sound. However, axons in the central nervous system are affected as well. db key
html:p The signs and symptoms of giant axonal neuropathy generally begin in early OMIM 256850
childhood and get worse over time. Most affected individuals first have problems db key
with walking. Later they may lose sensation, strength, and reflexes in their Orphanet 643
limbs; experience difficulty coordinating movements (ataxia); and require db key
wheelchair assistance. Visual and hearing problems may also occur. Many SNOMED CT 128207002
individuals with this condition have extremely kinky hair as compared to others
in their family.
html:p Giant axonal neuropathy can also impact the autonomic nervous system, which
controls involuntary body processes. Affected individuals may experience
problems with the release of urine (neurogenic bladder), constipation, heat
intolerance, and reduction in or loss of the ability to sweat.
html:p As the disorder worsens, paralysis, seizures, and a gradual decline in mental
function (dementia) can also occur. Most people with giant axonal neuropathy do
not survive past their twenties.
related-gene-list
Giant congenital melanocytic nevus, GCMN https://ghr.nlm.nih.gov/condition/giant-congenital-melanocytic-nevus Giant congenital melanocytic nevus occurs in approximately 1 in 20,000 html:p Giant congenital melanocytic nevus is a skin condition characterized by an n not inherited BRAF https://ghr.nlm.nih.gov/gene/BRAF congenital giant pigmented nevus of skin db key 2014-12 2017-12-29
巨型先天性黑色素痣 newborns worldwide. abnormally dark, noncancerous skin patch (nevus) that is composed of related-gene gene-symbol ghr-page congenital melanocytic nevus syndrome GTR C1842036
pigment-producing cells called melanocytes. It is present from birth NRAS https://ghr.nlm.nih.gov/gene/NRAS giant congenital melanocytic nevi db key
(congenital) or is noticeable soon after birth. The nevus may be small in giant congenital pigmented nevus ICD-10-CM D22
infants, but it will usually grow at the same rate the body grows and will giant pigmented hairy nevus db key
eventually be at least 40 cm (15.75 inches) across. The nevus can appear GMN MeSH D009508
anywhere on the body, but it is more often found on the trunk or limbs. The GPHN db key
color ranges from tan to black and can become darker or lighter over time. The OMIM 137550
surface of a nevus can be flat, rough, raised, thickened, or bumpy; the surface db key
can vary in different regions of the nevus, and it can change over time. The Orphanet 626
skin of the nevus is often dry and prone to irritation and itching (dermatitis). db key
Excessive hair growth (hypertrichosis) can occur within the nevus. There is SNOMED CT 254815002
often less fat tissue under the skin of the nevus; the skin may appear thinner
there than over other areas of the body.
html:p People with giant congenital melanocytic nevus may have more than one nevus
(plural: nevi). The other nevi are often smaller than the giant nevus. Affected
individuals may have one or two additional nevi or multiple small nevi that are
scattered over the skin; these are known as satellite or disseminated nevi.
html:p Affected individuals may feel anxiety or emotional stress due to the impact the
nevus may have on their appearance and their health. Children with giant
congenital melanocytic nevus can develop emotional or behavior problems.
html:p Some people with giant congenital melanocytic nevus develop a condition called
neurocutaneous melanosis, which is the presence of pigment-producing skin cells
(melanocytes) in the tissue that covers the brain and spinal cord. These
melanocytes may be spread out or grouped together in clusters. Their growth can
cause increased pressure in the brain, leading to headache, vomiting,
irritability, seizures, and movement problems. Tumors in the brain may also
develop.
html:p Individuals with giant congenital melanocytic nevus have an increased risk of
developing an aggressive form of cancer called melanoma, which arises from
melanocytes. Estimates vary, but it is generally thought that people with giant
congenital melanocytic nevus have a 5 to 10 percent lifetime risk of developing
melanoma. Melanoma commonly begins in the nevus, but it can develop when
melanocytes that invade other tissues, such as those in the brain and spinal
cord, become cancerous. When melanoma occurs in people with giant congenital
melanocytic nevus, the survival rate is low.
html:p Other types of tumors can also develop in individuals with giant congenital
melanocytic nevus, including soft tissue tumors (sarcomas), fatty tumors
(lipomas), and tumors of the nerve cells (schwannomas).
related-gene-list
Gilbert syndrome https://ghr.nlm.nih.gov/condition/gilbert-syndrome Gilbert syndrome is a common condition that is estimated to affect 3 to 7 html:p Gilbert syndrome is a relatively mild condition characterized by periods of ad autosomal dominant UGT1A1 https://ghr.nlm.nih.gov/gene/UGT1A1 constitutional liver dysfunction db key 2012-02 2017-12-29
吉伯特氏症候群 percent of Americans. elevated levels of a toxic substance called bilirubin in the blood code memo familial nonhemolytic jaundice GTR C0017551
(hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced ar autosomal recessive Gilbert disease db key
when red blood cells are broken down. This substance is removed from the body Gilbert-Lereboullet syndrome ICD-10-CM E80.4
only after it undergoes a chemical reaction in the liver, which converts the Gilbert's disease db key
toxic form of bilirubin (unconjugated bilirubin) to a nontoxic form called Gilbert's syndrome MeSH D005878
conjugated bilirubin. People with Gilbert syndrome have a buildup of hyperbilirubinemia 1 db key
unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In Meulengracht syndrome OMIM 143500
affected individuals, bilirubin levels fluctuate and very rarely increase to unconjugated benign bilirubinemia db key
levels that cause jaundice, which is yellowing of the skin and whites of the Orphanet 357
eyes. db key
html:p Gilbert syndrome is usually recognized in adolescence. If people with this SNOMED CT 27503000
condition have episodes of hyperbilirubinemia, these episodes are generally mild
and typically occur when the body is under stress, for instance because of
dehydration, prolonged periods without food (fasting), illness, vigorous
exercise, or menstruation. Some people with Gilbert syndrome also experience
abdominal discomfort or tiredness. However, approximately 30 percent of people
with Gilbert syndrome have no signs or symptoms of the condition and are
discovered only when routine blood tests reveal elevated unconjugated bilirubin
levels.
related-gene-list
Gillespie syndrome https://ghr.nlm.nih.gov/condition/gillespie-syndrome The prevalence of Gillespie syndrome is unknown. Only a few dozen affected html:p Gillespie syndrome is a disorder that involves eye abnormalities, problems with ad autosomal dominant PAX6 https://ghr.nlm.nih.gov/gene/PAX6 aniridia-cerebellar ataxia-intellectual disability db key 2014-07 2017-12-29
individuals have been described in the medical literature. It has been estimated balance and coordinating movements (ataxia), and mild to moderate intellectual code memo aniridia-cerebellar ataxia-mental deficiency GTR C0431401
that Gillespie syndrome accounts for about 2 percent of cases of aniridia. disability. ar autosomal recessive aniridia, cerebellar ataxia, and mental retardation db key
html:p Gillespie syndrome is characterized by aniridia, which is the absence of the partial aniridia-cerebellar ataxia-oligophrenia MeSH D015783
colored part of the eye (the iris). In most affected individuals, only part of db key
the iris is missing (partial aniridia) in both eyes, but in some affected OMIM 206700
individuals, partial aniridia affects only one eye, or the entire iris is db key
missing (complete aniridia) in one or both eyes. The absence of all or part of Orphanet 1065
the iris can cause blurry vision (reduced visual acuity) and increased db key
sensitivity to light (photophobia). Rapid, involuntary eye movements (nystagmus) SNOMED CT 253176002
can also occur in Gillespie syndrome.
html:p The balance and movement problems in Gillespie syndrome result from
underdevelopment (hypoplasia) of a part of the brain called the cerebellum. This
abnormality can cause delayed development of motor skills such as walking. In
addition, difficulty controlling the muscles in the mouth can lead to delayed
speech development. The difficulties with coordination generally become
noticeable in early childhood when the individual is learning these skills.
People with Gillespie syndrome usually continue to have an unsteady gait and
speech problems. However, the problems do not get worse over time, and in some
cases they improve slightly.
html:p Other features of Gillespie syndrome can include abnormalities in the bones of
the spine (vertebrae) and malformations of the heart.
related-gene-list
Gitelman syndrome https://ghr.nlm.nih.gov/condition/gitelman-syndrome Gitelman syndrome affects an estimated 1 in 40,000 people worldwide. html:p Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms ar autosomal recessive CLCNKB https://ghr.nlm.nih.gov/gene/CLCNKB familial hypokalemia-hypomagnesemia db key 2011-02 2017-12-29
Gitelman氏症候群 (ions) in the body, including ions of potassium, magnesium, and calcium. related-gene gene-symbol ghr-page Gitelman's syndrome GTR C0268450
html:p The signs and symptoms of Gitelman syndrome usually appear in late childhood or SLC12A3 https://ghr.nlm.nih.gov/gene/SLC12A3 GS db key
adolescence. Common features of this condition include painful muscle spasms hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria MeSH D053579
(tetany), muscle weakness or cramping, dizziness, and salt craving. Also common tubular hypomagnesemia-hypokalemia with hypocalcuria db key
is a tingling or prickly sensation in the skin (paresthesias), most often OMIM 263800
affecting the face. Some individuals with Gitelman syndrome experience excessive db key
tiredness (fatigue), low blood pressure, and a painful joint condition called Orphanet 358
chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the db key
risk of a potentially dangerous abnormal heart rhythm called ventricular SNOMED CT 707756004
arrhythmia.
html:p The signs and symptoms of Gitelman syndrome vary widely, even among affected
members of the same family. Most people with this condition have relatively mild
symptoms, although affected individuals with severe muscle cramping, paralysis,
and slow growth have been reported.
related-gene-list
Glanzmann thrombasthenia https://ghr.nlm.nih.gov/condition/glanzmann-thrombasthenia Glanzmann thrombasthenia is estimated to affect 1 in one million html:p Glanzmann thrombasthenia is a bleeding disorder that is characterized by ar autosomal recessive ITGA2B https://ghr.nlm.nih.gov/gene/ITGA2B deficiency of glycoprotein complex IIb-IIIa db key 2015-09 2017-12-29
血小板無力症 individuals worldwide, but may be more common in certain groups, including those prolonged or spontaneous bleeding starting from birth. People with Glanzmann related-gene gene-symbol ghr-page deficiency of platelet fibrinogen receptor GTR C0040015
of Romani ethnicity, particularly people within the French Manouche community. thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and ITGB3 https://ghr.nlm.nih.gov/gene/ITGB3 Glanzmann disease db key
may bleed from the gums. They may also develop red or purple spots on the skin Glanzmann-Naegeli disorder ICD-10-CM D69.1
caused by bleeding underneath the skin (petechiae) or swelling caused by glycoprotein IIb/IIIa defect db key
bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause hereditary hemorrhagic thrombasthenia MeSH D013915
prolonged bleeding following injury, trauma, or surgery (including dental work). hereditary thrombasthenia db key
Women with this condition can have prolonged and sometimes abnormally heavy platelet fibrinogen receptor deficiency OMIM 273800
menstrual bleeding. Affected women also have an increased risk of excessive db key
blood loss during pregnancy and childbirth. Orphanet 849
html:p About a quarter of individuals with Glanzmann thrombasthenia have bleeding in db key
the gastrointestinal tract, which often occurs later in life. Rarely, affected SNOMED CT 32942005
individuals have bleeding inside the skull (intracranial hemorrhage) or joints
(hemarthrosis).
html:p The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia
can vary greatly among affected individuals, even in the same family.
Spontaneous bleeding tends to become less frequent with age.
related-gene-list
Globozoospermia https://ghr.nlm.nih.gov/condition/globozoospermia Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 html:p Globozoospermia is a condition that affects only males. It is characterized by ar autosomal recessive DPY19L2 https://ghr.nlm.nih.gov/gene/DPY19L2 acrosome malformation of spermatozoa db key 2015-04 2017-12-29
圆头精子症 men. It is most common in North Africa, where it accounts for approximately 1 abnormal sperm and leads to an inability to father biological children round-headed spermatozoa GTR C0403825
in 100 cases of male infertility. (infertility). spermatogenic failure 9 db key
html:p Normal sperm cells have an oval-shaped head with a cap-like covering called the MeSH D000072660
acrosome. The acrosome contains enzymes that break down the outer membrane of an db key
egg cell, allowing the sperm to fertilize the egg. The sperm cells of males OMIM 613958
with globozoospermia, however, have a round head and no acrosome. The abnormal db key
sperm are unable to fertilize an egg cell, leading to infertility. Orphanet 171709
db key
related-gene-list SNOMED CT 236818008
Glucose-6-phosphate dehydrogenase deficiency, G6PD deficiency https://ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency An estimated 400 million people worldwide have glucose-6-phosphate html:p Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs xr X-linked recessive G6PD https://ghr.nlm.nih.gov/gene/G6PD deficiency of glucose-6-phosphate dehydrogenase db key 2017-05 2017-12-29
葡萄糖-六-磷酸鹽去氫酵素缺乏症 (蠶豆症) dehydrogenase deficiency. This condition occurs most frequently in certain parts almost exclusively in males. This condition mainly affects red blood cells, G6PD deficiency GTR C0017758
of Africa, Asia, the Mediterranean, and the Middle East. It affects about 1 in which carry oxygen from the lungs to tissues throughout the body. In affected G6PDD db key
10 African American males in the United States. individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase glucose 6 phosphate dehydrogenase deficiency ICD-10-CM D55.0
causes red blood cells to break down prematurely. This destruction of red blood db key
cells is called hemolysis. MeSH D005955
html:p The most common medical problem associated with glucose-6-phosphate db key
dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells OMIM 305900
are destroyed faster than the body can replace them. This type of anemia leads db key
to paleness, yellowing of the skin and whites of the eyes (jaundice), dark Orphanet 362
urine, fatigue, shortness of breath, and a rapid heart rate. In people with db key
glucose-6-phosphate dehydrogenase deficiency, hemolytic anemia is most often SNOMED CT 124134002
triggered by bacterial or viral infections or by certain drugs (such as some db key
antibiotics and medications used to treat malaria). Hemolytic anemia can also SNOMED CT 62403005
occur after eating fava beans or inhaling pollen from fava plants (a reaction
called favism).
html:p Glucose-6-phosphate dehydrogenase deficiency is also a significant cause of mild
to severe jaundice in newborns. Many people with this disorder, however, never
experience any signs or symptoms and are unaware that they have the condition.
related-gene-list
Glucose-galactose malabsorption https://ghr.nlm.nih.gov/condition/glucose-galactose-malabsorption Glucose-galactose malabsorption is a rare disorder; only a few hundred html:p Glucose-galactose malabsorption is a condition in which the cells lining the ar autosomal recessive SLC5A1 https://ghr.nlm.nih.gov/gene/SLC5A1 carbohydrate intolerance db key 2007-07 2017-12-29
cases have been identified worldwide. However, as many as 10 percent of the intestine cannot take in the sugars glucose and galactose, which prevents proper complex carbohydrate intolerance GTR C0268186
population may have a somewhat reduced capacity for glucose absorption without digestion of these molecules and larger molecules made from them. GGM db key
associated health problems. This condition may be a milder variation of html:p Glucose and galactose are called simple sugars, or monosaccharides. Sucrose monosaccharide malabsorption MeSH D008286
glucose-galactose malabsorption. (table sugar) and lactose (the sugar found in milk) are called disaccharides db key
because they are made from two simple sugars, and are broken down into these OMIM 606824
simple sugars during digestion. Sucrose is broken down into glucose and another db key
simple sugar called fructose, and lactose is broken down into glucose and Orphanet 35710
galactose. As a result, lactose, sucrose and other compounds made from sugar db key
molecules (carbohydrates) cannot be digested by individuals with SNOMED CT 190749000
glucose-galactose malabsorption. db key
html:p Glucose-galactose malabsorption generally becomes apparent in the first few SNOMED CT 27943000
weeks of a baby's life. Affected infants experience severe diarrhea resulting in
life-threatening dehydration, increased acidity of the blood and tissues
(acidosis), and weight loss when fed breast milk or regular infant formulas.
However, they are able to digest fructose-based formulas that do not contain
glucose or galactose. Some affected children are better able to tolerate glucose
and galactose as they get older.
html:p Small amounts of glucose in the urine (mild glucosuria) may occur intermittently
in this disorder. Affected individuals may also develop kidney stones or more
widespread deposits of calcium within the kidneys.
related-gene-list
Glucose phosphate isomerase deficiency https://ghr.nlm.nih.gov/condition/glucose-phosphate-isomerase-deficiency GPI deficiency is a rare cause of hemolytic anemia; its prevalence is html:p Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that ar autosomal recessive GPI https://ghr.nlm.nih.gov/gene/GPI glucose-6-phosphate isomerase deficiency db key 2013-12 2017-12-29
unknown. About 50 cases have been described in the medical literature. affects red blood cells, which carry oxygen to the body's tissues. People with glucosephosphate isomerase deficiency GTR C3150730
this disorder have a condition known as chronic hemolytic anemia, in which red GPI deficiency db key
blood cells are broken down (undergo hemolysis) prematurely, resulting in a nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency GTR CN072763
shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to db key
unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme MeSH D000745
tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate db key
(tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the OMIM 613470
blood, and small pebble-like deposits in the gallbladder or bile ducts db key
(gallstones) may also occur in this disorder. Orphanet 712
html:p Hemolytic anemia in GPI deficiency can range from mild to severe. In the most db key
severe cases, affected individuals do not survive to birth. Individuals with SNOMED CT 124669001
milder disease can survive into adulthood. People with any level of severity of db key
the disorder can have episodes of more severe hemolysis, called hemolytic SNOMED CT 234404008
crises, which can be triggered by bacterial or viral infections. db key
html:p A small percentage of individuals with GPI deficiency also have neurological SNOMED CT 52413004
problems, including intellectual disability and difficulty with coordinating
movements (ataxia).
related-gene-list
GLUT1 deficiency syndrome https://ghr.nlm.nih.gov/condition/glut1-deficiency-syndrome GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have html:p GLUT1 deficiency syndrome is a disorder affecting the nervous system that can ad autosomal dominant SLC2A1 https://ghr.nlm.nih.gov/gene/SLC2A1 De Vivo disease db key 2014-03 2017-12-29
腦血管屏障葡萄糖輸送缺陷 been reported worldwide since the disorder was first identified in 1991. In have a variety of neurological signs and symptoms. Approximately 90 percent of code memo encephalopathy due to GLUT1 deficiency GTR C1847501
Glucose Transport 1 deficiency syndrome Australia, the prevalence of the disorder has been estimated at 1 in 90,000 affected individuals have a form of the disorder often referred to as common ar autosomal recessive G1D db key
people. However, researchers suggest that the disorder may be underdiagnosed, GLUT1 deficiency syndrome. These individuals generally have frequent seizures glucose transport defect, blood-brain barrier GeneReviews glut1
because many neurological disorders can cause similar symptoms. (epilepsy) beginning in the first months of life. In newborns, the first sign of glucose transporter protein syndrome db key
the disorder may be involuntary eye movements that are rapid and irregular. glucose transporter type 1 deficiency syndrome MeSH D020739
Babies with common GLUT1 deficiency syndrome have a normal head size at birth, Glut1 deficiency db key
but growth of the brain and skull is often slow, which can result in an GLUT1 DS OMIM 606777
abnormally small head size (microcephaly). People with this form of GLUT1 GTPS db key
deficiency syndrome may have developmental delay or intellectual disability. Orphanet 71277
Most affected individuals also have other neurological problems, such as db key
stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in SNOMED CT 445252005
coordinating movements (ataxia), and speech difficulties (dysarthria). Some
experience episodes of confusion, lack of energy (lethargy), headaches, or
muscle twitches (myoclonus), particularly during periods without food (fasting).
html:p About 10 percent of individuals with GLUT1 deficiency syndrome have a form of
the disorder often known as non-epileptic GLUT1 deficiency syndrome, which is
usually less severe than the common form. People with the non-epileptic form do
not have seizures, but they may still have developmental delay and intellectual
disability. Most have movement problems such as ataxia or involuntary tensing of
various muscles (dystonia); the movement problems may be more pronounced than
in the common form.
html:p Several conditions that were originally given other names have since been
recognized to be variants of GLUT1 deficiency syndrome. These include paroxysmal
choreoathetosis with spasticity (dystonia 9); paroxysmal exercise-induced
dyskinesia and epilepsy (dystonia 18); and certain types of epilepsy. In rare
cases, people with variants of GLUT1 deficiency syndrome produce abnormal red
blood cells and have uncommon forms of a blood condition known as anemia, which
is characterized by a shortage of red blood cells.
related-gene-list
Glutamate formiminotransferase deficiency https://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency Glutamate formiminotransferase deficiency is a rare disorder; approximately html:p Glutamate formiminotransferase deficiency is an inherited disorder that affects ar autosomal recessive FTCD https://ghr.nlm.nih.gov/gene/FTCD Arakawa syndrome 1 db key 2009-08 2017-12-29
20 affected individuals have been identified. Of these, about one-quarter have physical and mental development. There are two forms of this condition, which FIGLU-uria GTR C0268609
the severe form of the disorder. Everyone reported with the severe form has been are distinguished by the severity of symptoms. formiminoglutamic aciduria db key
of Japanese origin. The remaining individuals, who come from a variety of html:p People with the mild form of glutamate formiminotransferase deficiency have formiminotransferase deficiency MeSH D008661
ethnic backgrounds, are affected by the mild form of the condition. minor delays in physical and mental development and may have mild intellectual db key
disability. They also have unusually high levels of a molecule called OMIM 229100
formiminoglutamate (FIGLU) in their urine. db key
html:p Individuals affected by the severe form of this disorder have profound Orphanet 51208
intellectual disability and delayed development of motor skills such as sitting, db key
standing, and walking. In addition to FIGLU in their urine, they have elevated SNOMED CT 59761008
amounts of certain B vitamins (called folates) in their blood.
html:p The severe form of glutamate formiminotransferase deficiency is also
characterized by megaloblastic anemia. Megaloblastic anemia occurs when a person
has a low number of red blood cells (anemia), and the remaining red blood cells
are larger than normal (megaloblastic). The symptoms of this blood disorder may
include decreased appetite, lack of energy, headaches, pale skin, and tingling
or numbness in the hands and feet.
related-gene-list
Glutaric acidemia type I https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-i Glutaric acidemia type I occurs in approximately 1 of every 30,000 to html:p Glutaric acidemia type I is an inherited disorder in which the body is unable to ar autosomal recessive GCDH https://ghr.nlm.nih.gov/gene/GCDH GA I db key 2007-03 2017-12-29
戊二酸血症 第一型 40,000 individuals. It is much more common in the Amish community and in the process certain proteins properly. People with this disorder have inadequate Glutaric acidemia I GTR C0268595
Ojibwa population of Canada, where up to 1 in 300 newborns may be affected. levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, Glutaric acidemia type 1 db key
and tryptophan, which are building blocks of protein. Excessive levels of these Glutaric aciduria I MeSH D000592
amino acids and their intermediate breakdown products can accumulate and cause Glutaryl-CoA dehydrogenase deficiency db key
damage to the brain, particularly the basal ganglia, which are regions that help OMIM 231670
control movement. Intellectual disability may also occur. db key
html:p The severity of glutaric acidemia type I varies widely; some individuals are Orphanet 25
only mildly affected, while others have severe problems. In most cases, signs db key
and symptoms first occur in infancy or early childhood, but in a small number of SNOMED CT 76175005
affected individuals, the disorder first becomes apparent in adolescence or
adulthood.
html:p Some babies with glutaric acidemia type I are born with unusually large heads
(macrocephaly). Affected individuals may have difficulty moving and may
experience spasms, jerking, rigidity, or decreased muscle tone. Some individuals
with glutaric acidemia have developed bleeding in the brain or eyes that could
be mistaken for the effects of child abuse. Strict dietary control may help
limit progression of the neurological damage. Stress caused by infection, fever
or other demands on the body may lead to worsening of the signs and symptoms,
with only partial recovery.
related-gene-list
Glutaric acidemia type II https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii Glutaric acidemia type II is a very rare disorder; its precise incidence is html:p Glutaric acidemia type II is an inherited disorder that interferes with the ar autosomal recessive ETFA https://ghr.nlm.nih.gov/gene/ETFA electron transfer flavoprotein deficiency db key 2014-02 2017-12-29
戊二酸血症 第二型 unknown. It has been reported in several different ethnic groups. body's ability to break down proteins and fats to produce energy. Incompletely related-gene gene-symbol ghr-page EMA GTR C0268596
processed proteins and fats can build up in the body and cause the blood and ETFB https://ghr.nlm.nih.gov/gene/ETFB ETFA deficiency db key
tissues to become too acidic (metabolic acidosis). related-gene gene-symbol ghr-page ETFB deficiency ICD-10-CM E71.313
html:p Glutaric acidemia type II usually appears in infancy or early childhood as a ETFDH https://ghr.nlm.nih.gov/gene/ETFDH ETFDH deficiency db key
sudden episode called a metabolic crisis, in which acidosis and low blood sugar ethylmalonic-adipicaciduria MeSH D054069
(hypoglycemia) cause weakness, behavior changes such as poor feeding and GA II db key
decreased activity, and vomiting. These metabolic crises, which can be glutaric acidemia, type 2 OMIM 231680
life-threatening, may be triggered by common childhood illnesses or other glutaric aciduria, type 2 db key
stresses. MAD Orphanet 26791
html:p In the most severe cases of glutaric acidemia type II, affected individuals may MADD db key
also be born with physical abnormalities. These may include brain malformations, multiple acyl-CoA dehydrogenase deficiency SNOMED CT 22886006
an enlarged liver (hepatomegaly), a weakened and enlarged heart (dilated multiple FAD dehydrogenase deficiency
cardiomyopathy), fluid-filled cysts and other malformations of the kidneys,
unusual facial features, and genital abnormalities. Glutaric acidemia type II
may also cause a characteristic odor resembling that of sweaty feet.
html:p Some affected individuals have less severe symptoms that begin later in
childhood or in adulthood. In the mildest forms of glutaric acidemia type II,
muscle weakness developing in adulthood may be the first sign of the disorder.
related-gene-list
Glutathione synthetase deficiency https://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency Glutathione synthetase deficiency is very rare. This disorder has been html:p Glutathione synthetase deficiency is a disorder that prevents the production of ar autosomal recessive GSS https://ghr.nlm.nih.gov/gene/GSS 5-oxoprolinemia db key 2015-03 2017-12-29
谷胱甘肽合成酶缺乏症 described in more than 70 people worldwide. an important molecule called glutathione. Glutathione helps prevent damage to 5-oxoprolinuria GTR C0398746
cells by neutralizing harmful molecules generated during energy production. deficiency of glutathione synthase db key
Glutathione also plays a role in processing medications and cancer-causing deficiency of glutathione synthetase GTR C1856399
compounds (carcinogens), and building DNA, proteins, and other important pyroglutamic acidemia db key
cellular components. pyroglutamic aciduria MeSH D008661
html:p Glutathione synthetase deficiency can be classified into three types: mild, db key
moderate, and severe. Mild glutathione synthetase deficiency usually results in OMIM 231900
the destruction of red blood cells (hemolytic anemia). In addition, affected db key
individuals may release large amounts of a compound called 5-oxoproline in their OMIM 266130
urine (5-oxoprolinuria). This compound builds up when glutathione is not db key
processed correctly in cells. Orphanet 32
html:p Individuals with moderate glutathione synthetase deficiency may experience db key
symptoms beginning shortly after birth including hemolytic anemia, SNOMED CT 124706000
5-oxoprolinuria, and elevated acidity in the blood and tissues (metabolic db key
acidosis). SNOMED CT 234589002
html:p In addition to the features present in moderate glutathione synthetase db key
deficiency, individuals affected by the severe form of this disorder may SNOMED CT 39112005
experience neurological symptoms. These problems may include seizures; a
generalized slowing down of physical reactions, movements, and speech
(psychomotor retardation); intellectual disability; and a loss of coordination
(ataxia). Some people with severe glutathione synthetase deficiency also develop
recurrent bacterial infections.
related-gene-list
Glycine encephalopathy https://ghr.nlm.nih.gov/condition/glycine-encephalopathy The worldwide incidence of glycine encephalopathy is unknown. Its html:p Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or ar autosomal recessive AMT https://ghr.nlm.nih.gov/gene/AMT Hyperglycinemia, Nonketotic db key 2007-04 2017-12-29
Nonketotic hyperglycinemia frequency has been studied in only a few regions: this condition affects about 1 NKH, is a genetic disorder characterized by abnormally high levels of a molecule related-gene gene-symbol ghr-page NKH GTR C0751748
非酮性高甘胺酸血症診斷與治療 in 55,000 newborns in Finland and about 1 in 63,000 newborns in British called glycine. This molecule is an amino acid, which is a building block of GLDC https://ghr.nlm.nih.gov/gene/GLDC non-ketotic hyperglycinemia db key
Columbia, Canada. proteins. Glycine also acts as a neurotransmitter, which is a chemical Nonketotic Hyperglycinemia GeneReviews nkh
messenger that transmits signals in the brain. Glycine encephalopathy is caused db key
by the shortage of an enzyme that normally breaks down glycine in the body. A ICD-10-CM E72.51
lack of this enzyme allows excess glycine to build up in tissues and organs, db key
particularly the brain, leading to serious medical problems. MeSH D020158
html:p The most common form of glycine encephalopathy, called the classical type, db key
appears shortly after birth. Affected infants experience a progressive lack of OMIM 605899
energy (lethargy), feeding difficulties, weak muscle tone (hypotonia), abnormal db key
jerking movements, and life-threatening problems with breathing. Most children Orphanet 407
who survive these early signs and symptoms develop profound intellectual db key
disability and seizures that are difficult to treat. For unknown reasons, SNOMED CT 237939006
affected males are more likely to survive and have less severe developmental db key
problems than affected females. SNOMED CT 303092001
html:p Researchers have identified several other types of glycine encephalopathy with db key
variable signs and symptoms. The most common of these atypical types is called SNOMED CT 51097006
the infantile form. Children with this condition develop normally until they are db key
about 6 months old, when they experience delayed development and may begin SNOMED CT 63329001
having seizures. As they get older, many develop intellectual disability, db key
abnormal movements, and behavioral problems. Other atypical types of glycine SNOMED CT 67845009
encephalopathy appear later in childhood or adulthood and cause a variety of
medical problems that primarily affect the nervous system.
html:p Rarely, the characteristic features of classical glycine encephalopathy improve
with time. These cases are classified as transient glycine encephalopathy. In
this form of the condition, glycine levels decrease to normal or near-normal
after being very high at birth. Many children with temporarily high glycine
levels go on to develop normally and experience few long-term medical problems.
Intellectual disability and seizures occur in some affected individuals,
however, even after glycine levels decrease.
related-gene-list
Glycogen storage disease type 0 https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-0 The prevalence of GSD 0 is unknown; fewer than 10 people with the muscle html:p Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by ar autosomal recessive GYS1 https://ghr.nlm.nih.gov/gene/GYS1 glycogen storage disease 0 db key 2014-01 2017-12-29
肝醣儲積症第零型 type and fewer than 30 people with the liver type have been described in the the body's inability to form a complex sugar called glycogen, which is a major related-gene gene-symbol ghr-page glycogen synthase deficiency GTR C1855861
scientific literature. Because some people with muscle GSD 0 die from sudden source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, GYS2 https://ghr.nlm.nih.gov/gene/GYS2 glycogen synthetase deficiency db key
cardiac arrest early in life before a diagnosis is made and many with liver GSD glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen GSD 0 GTR C1969054
0 have mild signs and symptoms, it is thought that GSD 0 may be underdiagnosed. formation in the liver is impaired. GSD type 0 db key
html:p The signs and symptoms of muscle GSD 0 typically begin in early childhood. hypoglycemia with deficiency of glycogen synthetase ICD-10-CM E74.09
Affected individuals often experience muscle pain and weakness or episodes of db key
fainting (syncope) following moderate physical activity, such as walking up MeSH D006008
stairs. The loss of consciousness that occurs with fainting typically lasts up db key
to several hours. Some individuals with muscle GSD 0 have a disruption of the OMIM 240600
heart's normal rhythm (arrhythmia) known as long QT syndrome. In all affected db key
individuals, muscle GSD 0 impairs the heart's ability to effectively pump blood OMIM 611556
and increases the risk of cardiac arrest and sudden death, particularly after db key
physical activity. Sudden death from cardiac arrest can occur in childhood or Orphanet 2089
adolescence in people with muscle GSD 0. db key
html:p Individuals with liver GSD 0 usually show signs and symptoms of the disorder in Orphanet 137625
infancy. People with this disorder develop low blood sugar (hypoglycemia) after db key
going long periods of time without food (fasting). Signs of hypoglycemia become SNOMED CT 237964009
apparent when affected infants begin sleeping through the night and stop
late-night feedings; these infants exhibit extreme tiredness (lethargy), pale
skin (pallor), and nausea. During episodes of fasting, ketone levels in the
blood may increase (ketosis). Ketones are molecules produced during the
breakdown of fats, which occurs when stored sugars (such as glycogen) are
unavailable. These short-term signs and symptoms of liver GSD 0 often improve
when food is eaten and sugar levels in the body return to normal. The features
of liver GSD 0 vary; they can be mild and go unnoticed for years, or they can
include developmental delay and growth failure.
related-gene-list
Glycogen storage disease type I https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i The overall incidence of GSDI is 1 in 100,000 individuals. GSDIa is more html:p Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an ar autosomal recessive G6PC https://ghr.nlm.nih.gov/gene/G6PC glucose-6-phosphate deficiency db key 2015-07 2017-12-29
肝醣儲積症第一型 common than GSDIb, accounting for 80 percent of all GSDI cases. inherited disorder caused by the buildup of a complex sugar called glycogen in related-gene gene-symbol ghr-page glucose-6-phosphate transport defect GTR C0017920
the body's cells. The accumulation of glycogen in certain organs and tissues, SLC37A4 https://ghr.nlm.nih.gov/gene/SLC37A4 GSD I db key
especially the liver, kidneys, and small intestines, impairs their ability to GSD type I GTR C0268146
function normally. hepatorenal form of glycogen storage disease db key
html:p Signs and symptoms of this condition typically appear around the age of 3 or 4 hepatorenal glycogenosis GTR CN069618
months, when babies start to sleep through the night and do not eat as von Gierke disease db key
frequently as newborns. Affected infants may have low blood sugar von Gierke's disease GeneReviews gsd1
(hypoglycemia), which can lead to seizures. They can also have a buildup of db key
lactic acid in the body (lactic acidosis), high blood levels of a waste product ICD-10-CM E74.01
called uric acid (hyperuricemia), and excess amounts of fats in the blood db key
(hyperlipidemia). As they get older, children with GSDI have thin arms and legs MeSH D005953
and short stature. An enlarged liver may give the appearance of a protruding db key
abdomen. The kidneys may also be enlarged. Affected individuals may also have OMIM 232200
diarrhea and deposits of cholesterol in the skin (xanthomas). db key
html:p People with GSDI may experience delayed puberty. Beginning in young to OMIM 232220
mid-adulthood, affected individuals may have thinning of the bones db key
(osteoporosis), a form of arthritis resulting from uric acid crystals in the Orphanet 364
joints (gout), kidney disease, and high blood pressure in the blood vessels that db key
supply the lungs (pulmonary hypertension). Females with this condition may also SNOMED CT 124437004
have abnormal development of the ovaries (polycystic ovaries). In affected db key
teens and adults, tumors called adenomas may form in the liver. Adenomas are SNOMED CT 30102006
usually noncancerous (benign), but occasionally these tumors can become db key
cancerous (malignant). SNOMED CT 444707001
html:p Researchers have described two types of GSDI, which differ in their signs and db key
symptoms and genetic cause. These types are known as glycogen storage disease SNOMED CT 7265005
type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of
GSDI have been described, and they were originally named types Ic and Id.
However, these types are now known to be variations of GSDIb; for this reason,
GSDIb is sometimes called GSD type I non-a.
html:p Many people with GSDIb have a shortage of white blood cells (neutropenia), which
can make them prone to recurrent bacterial infections. Neutropenia is usually
apparent by age 1. Many affected individuals also have inflammation of the
intestinal walls (inflammatory bowel disease). People with GSDIb may have oral
problems including cavities, inflammation of the gums (gingivitis), chronic gum
(periodontal) disease, abnormal tooth development, and open sores (ulcers) in
the mouth. The neutropenia and oral problems are specific to people with GSDIb
and are typically not seen in people with GSDIa.
related-gene-list
Glycogen storage disease type III https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii The incidence of GSDIII in the United States is 1 in 100,000 individuals. html:p Glycogen storage disease type III (also known as GSDIII or Cori disease) is an ar autosomal recessive AGL https://ghr.nlm.nih.gov/gene/AGL AGL deficiency db key 2014-12 2017-12-29
肝醣儲積症第三型 This condition is seen more frequently in people of North African Jewish inherited disorder caused by the buildup of a complex sugar called glycogen in Cori disease GTR C0017922
ancestry; in this population, 1 in 5,400 individuals are estimated to be the body's cells. The accumulated glycogen is structurally abnormal and impairs Cori's disease db key
affected.GSDIIIa is the most common form of GSDIII, accounting for about 85 the function of certain organs and tissues, especially the liver and muscles. debrancher deficiency GeneReviews gsd3
percent of all cases. GSDIIIb accounts for about 15 percent of cases. GSD types html:p GSDIII is divided into types IIIa, IIIb, IIIc, and IIId, which are distinguished Forbes disease db key
IIIc and IIId are very rare, and their signs and symptoms are poorly defined. by their pattern of signs and symptoms. GSD types IIIa and IIIc mainly affect glycogen debrancher deficiency ICD-10-CM E74.03
Only a small number of affected individuals have been suspected to have GSD the liver and muscles, and GSD types IIIb and IIId typically affect only the GSD III db key
types IIIc and IIId. liver. It is very difficult to distinguish between the types of GSDIII that GSD3 MeSH D006010
affect the same tissues. GSD types IIIa and IIIb are the most common forms of limit dextrinosis db key
this condition. OMIM 232400
html:p Beginning in infancy, individuals with any type of GSDIII may have low blood db key
sugar (hypoglycemia), excess amounts of fats in the blood (hyperlipidemia), and Orphanet 366
elevated blood levels of liver enzymes. As they get older, children with this db key
condition typically develop an enlarged liver (hepatomegaly). Liver size usually SNOMED CT 66937008
returns to normal during adolescence, but some affected individuals develop
chronic liver disease (cirrhosis) and liver failure later in life. People with
GSDIII often have slow growth because of their liver problems, which can lead to
short stature. In a small percentage of people with GSDIII, noncancerous
(benign) tumors called adenomas may form in the liver.
html:p Individuals with GSDIIIa may develop muscle weakness (myopathy) later in life.
These muscle problems can affect both heart (cardiac) muscle and the muscles
that are used for movement (skeletal muscles). Muscle involvement varies greatly
among affected individuals. The first signs and symptoms are typically poor
muscle tone (hypotonia) and mild myopathy in early childhood. The myopathy may
become severe by early to mid-adulthood. Some people with GSDIIIa have a
weakened heart muscle (cardiomyopathy), but affected individuals usually do not
experience heart failure. Other people affected with GSDIIIa have no cardiac
muscle problems.
related-gene-list
Glycogen storage disease type IV https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals html:p Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the ar autosomal recessive GBE1 https://ghr.nlm.nih.gov/gene/GBE1 amylopectinosis db key 2013-02 2017-12-29
肝醣儲積症第四型 worldwide. Type IV accounts for roughly 3 percent of all cases of glycogen buildup of a complex sugar called glycogen in the body's cells. The accumulated Andersen disease GTR C0017923
storage disease. glycogen is structurally abnormal and impairs the function of certain organs Andersen glycogenosis db key
and tissues, especially the liver and muscles. There are five types of GSD IV, Andersen's disease GeneReviews gsd4
which are distinguished by their severity, signs, and symptoms. brancher deficiency db key
html:p The fatal perinatal neuromuscular type is the most severe form of GSD IV, with branching enzyme deficiency ICD-10-CM E74.09
signs developing before birth. Excess fluid may build up around the fetus glycogen branching enzyme deficiency db key
(polyhydramnios) and in the fetus' body. Affected fetuses have a condition glycogen storage disease IV MeSH D006011
called fetal akinesia deformation sequence, which causes a decrease in fetal glycogen storage disease type 4 db key
movement and can lead to joint stiffness (arthrogryposis) after birth. Infants glycogenosis 4 OMIM 232500
with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone glycogenosis, type IV db key
(severe hypotonia) and muscle wasting (atrophy). These infants usually do not GSD IV Orphanet 367
survive past the newborn period due to weakened heart and breathing muscles. GSD type IV db key
html:p The congenital muscular type of GSD IV is usually not evident before birth but GSD4 SNOMED CT 11179002
develops in early infancy. Affected infants have severe hypotonia, which affects type IV glycogenosis db key
the muscles needed for breathing. These babies often have dilated SNOMED CT 124267007
cardiomyopathy, which enlarges and weakens the heart (cardiac) muscle,
preventing the heart from pumping blood efficiently. Infants with the congenital
muscular type of GSD IV typically survive only a few months.
html:p The progressive hepatic type is the most common form of GSD IV. Within the first
months of life, affected infants have difficulty gaining weight and growing at
the expected rate (failure to thrive) and develop an enlarged liver
(hepatomegaly). Children with this type develop a form of liver disease called
cirrhosis that often is irreversible. High blood pressure in the vein that
supplies blood to the liver (portal hypertension) and an abnormal buildup of
fluid in the abdominal cavity (ascites) can also occur. By age 1 or 2, affected
children develop hypotonia. Children with the progressive hepatic type of GSD IV
often die of liver failure in early childhood.
html:p The non-progressive hepatic type of GSD IV has many of the same features as the
progressive hepatic type, but the liver disease is not as severe. In the
non-progressive hepatic type, hepatomegaly and liver disease are usually evident
in early childhood, but affected individuals typically do not develop
cirrhosis. People with this type of the disorder can also have hypotonia and
muscle weakness (myopathy). Most individuals with this type survive into
adulthood, although life expectancy varies depending on the severity of the
signs and symptoms.
html:p The childhood neuromuscular type of GSD IV develops in late childhood and is
characterized by myopathy and dilated cardiomyopathy. The severity of this type
of GSD IV varies greatly; some people have only mild muscle weakness while
others have severe cardiomyopathy and die in early adulthood.
related-gene-list
Glycogen storage disease type IX https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-ix GSD IX that affects the liver is estimated to occur in 1 in 100,000 people. html:p Glycogen storage disease type IX (also known as GSD IX) is a condition caused by ar autosomal recessive PHKA1 https://ghr.nlm.nih.gov/gene/PHKA1 GSD IX db key 2015-08 2017-12-29
肝醣儲積症第九型 The forms of the disease that affect muscles or both muscles and liver are much the inability to break down a complex sugar called glycogen. The different code memo related-gene gene-symbol ghr-page GSDIX GTR C0017927
less common, although the prevalence is unknown. forms of the condition can affect glycogen breakdown in liver cells or muscle xr X-linked recessive PHKA2 https://ghr.nlm.nih.gov/gene/PHKA2 PhK deficiency db key
cells or sometimes both. A lack of glycogen breakdown interferes with the normal related-gene gene-symbol ghr-page phosphorylase b kinase deficiency GTR C0543514
function of the affected tissue. PHKB https://ghr.nlm.nih.gov/gene/PHKB phosphorylase kinase deficiency db key
html:p When GSD IX affects the liver, the signs and symptoms typically begin in early related-gene gene-symbol ghr-page GTR C1845151
childhood. The initial features are usually an enlarged liver (hepatomegaly) and PHKG2 https://ghr.nlm.nih.gov/gene/PHKG2 db key
slow growth. Affected children are often shorter than normal. During prolonged GTR C2751643
periods without food (fasting), affected individuals may have low blood sugar db key
(hypoglycemia) or elevated levels of ketones in the blood (ketosis). Ketones are GeneReviews gsd9
molecules produced during the breakdown of fats, which occurs when stored db key
sugars are unavailable. Affected children may have delayed development of motor MeSH D006008
skills, such as sitting, standing, or walking, and some have mild muscle db key
weakness. Puberty is delayed in some adolescents with GSD IX. In the form of the OMIM 261750
condition that affects the liver, the signs and symptoms usually improve with db key
age. Typically, individuals catch up developmentally, and adults reach normal OMIM 300559
height. However, some affected individuals have a buildup of scar tissue db key
(fibrosis) in the liver, which can rarely progress to irreversible liver disease OMIM 306000
(cirrhosis). db key
html:p GSD IX can affect muscle tissue, although this form of the condition is very OMIM 613027
rare and not well understood. The features of this form of the condition can db key
appear anytime from childhood to adulthood. Affected individuals may experience Orphanet 370
fatigue, muscle pain, and cramps, especially during exercise (exercise db key
intolerance). Most affected individuals have muscle weakness that worsens over Orphanet 715
time. GSD IX can cause myoglobinuria, which occurs when muscle tissue breaks db key
down abnormally and releases a protein called myoglobin that is excreted in the Orphanet 264580
urine. Myoglobinuria can cause the urine to be red or brown. db key
html:p In a small number of people with GSD IX, the liver and muscles are both Orphanet 79240
affected. These individuals develop a combination of the features described db key
above, although the muscle problems are usually mild. SNOMED CT 40191005
related-gene-list
Glycogen storage disease type V https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v GSDV is a rare disorder; however, its prevalence is unknown. In the html:p Glycogen storage disease type V (also known as GSDV or McArdle disease) is an ar autosomal recessive PYGM https://ghr.nlm.nih.gov/gene/PYGM glycogen storage disease type 5 db key 2014-06 2017-12-29
肝醣儲積症第五型 Dallas-Fort Worth area of Texas, where the prevalence of GSDV has been studied, inherited disorder caused by an inability to break down a complex sugar called glycogenosis 5 GTR C0017924
the condition is estimated to affect 1 in 100,000 individuals. glycogen in muscle cells. A lack of glycogen breakdown interferes with the GSD type V db key
function of muscle cells. GSD V GeneReviews gsd5
html:p People with GSDV typically experience fatigue, muscle pain, and cramps during McArdle disease db key
the first few minutes of exercise (exercise intolerance). Exercise such as McArdle syndrome ICD-10-CM E74.04
weight lifting or jogging usually triggers these symptoms in affected McArdle type glycogen storage disease db key
individuals. The discomfort is generally alleviated with rest. If individuals McArdle's disease MeSH D006012
rest after brief exercise and wait for their pain to go away, they can usually muscle glycogen phosphorylase deficiency db key
resume exercising with little or no discomfort (a characteristic phenomenon muscle phosphorylase deficiency OMIM 232600
known as "second wind"). myophosphorylase deficiency db key
html:p Prolonged or intense exercise can cause muscle damage in people with GSDV. About PYGM deficiency Orphanet 368
half of people with GSDV experience breakdown of muscle tissue db key
(rhabdomyolysis). In severe episodes, the destruction of muscle tissue releases SNOMED CT 55912009
a protein called myoglobin, which is filtered through the kidneys and released
in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown.
This protein can also damage the kidneys, and it is estimated that half of those
individuals with GSDV who have myoglobinuria will develop life-threatening
kidney failure.
html:p The signs and symptoms of GSDV can vary significantly in affected individuals.
The features of this condition typically begin in a person's teens or twenties,
but they can appear anytime from infancy to adulthood. In most people with GSDV,
the muscle weakness worsens over time; however, in about one-third of affected
individuals, the muscle weakness is stable. Some people with GSDV experience
mild symptoms such as poor stamina; others do not experience any symptoms.
related-gene-list
Glycogen storage disease type VI https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi The exact prevalence of GSDVI is unknown. At least 11 cases have been html:p Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an ar autosomal recessive PYGL https://ghr.nlm.nih.gov/gene/PYGL GSD type VI db key 2010-09 2017-12-29
肝醣儲積症第六型 reported in the medical literature, although this condition is likely to be inherited disorder caused by an inability to break down a complex sugar called GSD VI GTR C0017925
underdiagnosed because it can be difficult to detect in children with mild glycogen in liver cells. A lack of glycogen breakdown interferes with the normal GSD6 db key
symptoms or adults with no symptoms. GSDVI is more common in the Old Older function of the liver. hepatic glycogen phosphorylase deficiency GeneReviews gsd6
Mennonite population, with an estimated incidence of 1 in 1,000 individuals. html:p The signs and symptoms of GSDVI typically begin in infancy to early childhood. Hers disease db key
The first sign is usually an enlarged liver (hepatomegaly). Affected individuals liver phosphorylase deficiency syndrome ICD-10-CM E74.09
may also have low blood sugar (hypoglycemia) or a buildup of lactic acid in the db key
body (lactic acidosis) during prolonged periods without food (fasting). MeSH D006013
html:p The signs and symptoms of GSDVI tend to improve with age; most adults with this db key
condition do not have any related health problems. Orphanet 369
db key
related-gene-list SNOMED CT 29291001
Glycogen storage disease type VII https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vii GSDVII is thought to be a rare condition; more than 100 cases have been html:p Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an ar autosomal recessive PFKM https://ghr.nlm.nih.gov/gene/PFKM glycogenosis 7 db key 2014-04 2017-12-29
肝醣儲積症第七型 described in the scientific literature. inability to break down a complex sugar called glycogen in muscle cells. A lack GSD VII GTR C0017926
of glycogen breakdown interferes with the function of muscle cells. GSD7 db key
html:p There are four types of GSDVII. They are differentiated by their signs and muscle phosphofructokinase deficiency MeSH D006014
symptoms and the age at which symptoms first appear. PFKM deficiency db key
html:p The classical form of GSDVII is the most common form. Its features usually phosphofructokinase deficiency OMIM 232800
appear in childhood. This form is characterized by muscle pain and cramps, often Tarui disease db key
following moderate exercise; strenuous exercise can lead to nausea and Orphanet 371
vomiting. During exercise, muscle tissue can be abnormally broken down, db key
releasing a protein called myoglobin. This protein is processed by the kidneys SNOMED CT 89597008
and released in the urine (myoglobinuria). If untreated, myoglobinuria can
damage the kidneys and lead to kidney failure. Some people with the classical
form of GSDVII develop high levels of a waste product called uric acid in the
blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid
effectively. Affected individuals may also have elevated levels of a molecule
called bilirubin in the blood that can cause yellowing of the skin and whites of
the eyes (jaundice). Individuals with classical GSDVII often have elevated
levels of an enzyme called creatine kinase in their blood. This finding is a
common indicator of muscle disease.
html:p Infants with the severe infantile form of GSDVII have low muscle tone
(hypotonia) at birth, which leads to muscle weakness (myopathy) that worsens
over time. Affected infants have a weakened and enlarged heart (cardiomyopathy)
and difficulty breathing normally. Individuals with this form of GSDVII usually
do not survive past their first year of life.
html:p In the late-onset form of GSDVII, myopathy is typically the only feature. The
muscle weakness appears in adulthood, although some individuals have difficulty
with sustained exercise starting in childhood. The weakness generally affects
the muscles closest to the center of the body (proximal muscles).
html:p The hemolytic form of GSDVII is characterized by hemolytic anemia, in which red
blood cells are broken down (undergo hemolysis) prematurely, causing a shortage
of red blood cells (anemia). People with the hemolytic form of GSDVII do not
experience any signs or symptoms of muscle pain or weakness related to the
disorder.
related-gene-list
Glycoprotein VI deficiency https://ghr.nlm.nih.gov/condition/glycoprotein-vi-deficiency The prevalence of glycoprotein VI deficiency is unknown. At least 15 cases html:p Glycoprotein VI deficiency is a bleeding disorder associated with a decreased ar autosomal recessive GP6 https://ghr.nlm.nih.gov/gene/GP6 BDPLT11 db key 2017-04 2017-12-29
肝醣儲積症第六型 have been described in the scientific literature. ability to form blood clots. Normally, blood clots protect the body after an bleeding diathesis due to a collagen receptor defect MeSH D025861
injury by sealing off damaged blood vessels and preventing further blood loss. bleeding disorder, platelet-type, 11 db key
Because people with glycoprotein VI deficiency cannot form blood clots normally, GP VI deficiency OMIM 614201
they have an increased risk of nosebleeds (epistaxis) and may experience db key
abnormally heavy or prolonged bleeding following minor injury or surgery. In Orphanet 73271
some affected individuals, spontaneous bleeding under the skin causes areas of db key
discoloration (ecchymosis). Women with glycoprotein VI deficiency often have SNOMED CT 234470000
heavy or prolonged menstrual periods (menorrhagia).
related-gene-list
GM1 gangliosidosis https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis GM1 gangliosidosis is estimated to occur in 1 in 100,000 to 200,000 html:p GM1 gangliosidosis is an inherited disorder that progressively destroys nerve ar autosomal recessive GLB1 https://ghr.nlm.nih.gov/gene/GLB1 beta-galactosidase-1 (GLB1) deficiency db key 2013-08 2017-12-29
GM1神经节苷脂储积症 newborns. Type I is reported more frequently than the other forms of this cells (neurons) in the brain and spinal cord. Some researchers classify this GTR C0085131
condition. Most individuals with type III are of Japanese descent. condition into three major types based on the age at which signs and symptoms db key
first appear. Although the three types differ in severity, their features can GTR C0268271
overlap significantly. Because of this overlap, other researchers believe that db key
GM1 gangliosidosis represents a continuous disease spectrum instead of three GTR C0268272
distinct types. db key
html:p The signs and symptoms of the most severe form of GM1 gangliosidosis, called GTR C0268273
type I or the infantile form, usually become apparent by the age of 6 months. db key
Infants with this form of the disorder typically appear normal until their ICD-10-CM E75.19
development slows and muscles used for movement weaken. Affected infants db key
eventually lose the skills they had previously acquired (developmentally MeSH D016537
regress) and may develop an exaggerated startle reaction to loud noises. As the db key
disease progresses, children with GM1 gangliosidosis type I develop an enlarged OMIM 230500
liver and spleen (hepatosplenomegaly), skeletal abnormalities, seizures, db key
profound intellectual disability, and clouding of the clear outer covering of OMIM 230600
the eye (the cornea). Loss of vision occurs as the light-sensing tissue at the db key
back of the eye (the retina) gradually deteriorates. An eye abnormality called a OMIM 230650
cherry-red spot, which can be identified with an eye examination, is db key
characteristic of this disorder. In some cases, affected individuals have Orphanet 354
distinctive facial features that are described as "coarse," enlarged gums db key
(gingival hypertrophy), and an enlarged and weakened heart muscle SNOMED CT 124465002
(cardiomyopathy). Individuals with GM1 gangliosidosis type I usually do not db key
survive past early childhood. SNOMED CT 18756002
html:p Type II GM1 gangliosidosis consists of intermediate forms of the condition, also db key
known as the late infantile and juvenile forms. Children with GM1 SNOMED CT 238025006
gangliosidosis type II have normal early development, but they begin to develop db key
signs and symptoms of the condition around the age of 18 months (late infantile SNOMED CT 238026007
form) or 5 years (juvenile form). Individuals with GM1 gangliosidosis type II db key
experience developmental regression but usually do not have cherry-red spots, SNOMED CT 238027003
distinctive facial features, or enlarged organs. Type II usually progresses more
slowly than type I, but still causes a shortened life expectancy. People with
the late infantile form typically survive into mid-childhood, while those with
the juvenile form may live into early adulthood.
html:p The third type of GM1 gangliosidosis is known as the adult or chronic form, and
it represents the mildest end of the disease spectrum. The age at which symptoms
first appear varies in GM1 gangliosidosis type III, although most affected
individuals develop signs and symptoms in their teens. The characteristic
features of this type include involuntary tensing of various muscles (dystonia)
and abnormalities of the spinal bones (vertebrae). Life expectancy varies among
people with GM1 gangliosidosis type III.
related-gene-list
GM2-gangliosidosis, AB variant https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant The AB variant is extremely rare; only a few cases have been reported html:p GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively ar autosomal recessive GM2A https://ghr.nlm.nih.gov/gene/GM2A AB variant db key 2008-09 2017-12-29
GM2神经节苷脂储积症 worldwide. destroys nerve cells (neurons) in the brain and spinal cord. Activator Deficiency/GM2 Gangliosidosis GTR C0268275
html:p Signs and symptoms of the AB variant become apparent in infancy. Infants with Activator-deficient Tay-Sachs disease db key
this disorder typically appear normal until the age of 3 to 6 months, when their GM2 Activator Deficiency Disease MeSH D049290
development slows and muscles used for movement weaken. Affected infants lose GM2 gangliosidosis, type AB db key
motor skills such as turning over, sitting, and crawling. They also develop an Hexosaminidase activator deficiency OMIM 272750
exaggerated startle reaction to loud noises. As the disease progresses, children Tay-Sachs Disease, AB Variant db key
with the AB variant experience seizures, vision and hearing loss, intellectual Orphanet 845
disability, and paralysis. An eye abnormality called a cherry-red spot, which db key
can be identified with an eye examination, is characteristic of this disorder. SNOMED CT 71253000
Children with the AB variant usually live only into early childhood.
related-gene-list
GM3 synthase deficiency https://ghr.nlm.nih.gov/condition/gm3-synthase-deficiency GM3 synthase deficiency appears to be a rare condition. About 50 cases have html:p GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and ar autosomal recessive ST3GAL5 https://ghr.nlm.nih.gov/gene/ST3GAL5 Amish infantile epilepsy syndrome db key 2014-07 2017-12-29
been reported, mostly from Old Order Amish communities. problems with brain development. Within the first few weeks after birth, epilepsy syndrome, infantile-onset symptomatic GTR C1836824
affected infants become irritable and develop feeding difficulties and vomiting ganglioside GM3 synthase deficiency db key
that prevent them from growing and gaining weight at the usual rate. Seizures infantile-onset symptomatic epilepsy syndrome MeSH D004827
begin within the first year of life and worsen over time. Multiple types of db key
seizures are possible, including generalized tonic-clonic seizures (also known OMIM 609056
as grand mal seizures), which cause muscle rigidity, convulsions, and loss of db key
consciousness. Some affected children also experience prolonged episodes of Orphanet 171714
seizure activity called nonconvulsive status epilepticus. The seizures db key
associated with GM3 synthase deficiency tend to be resistant (refractory) to Orphanet 370933
treatment with antiseizure medications. db key
html:p GM3 synthase deficiency profoundly disrupts brain development. Most affected SNOMED CT 722762005
children have severe intellectual disability and do not develop skills such as
reaching for objects, speaking, sitting without support, or walking. Some have
involuntary twisting or jerking movements of the arms that are described as
choreoathetoid. Although affected infants can likely see and hear at birth,
vision and hearing become impaired as the disease worsens. It is unknown how
long people with GM3 synthase deficiency usually survive.
html:p Some affected individuals have changes in skin coloring (pigmentation),
including dark freckle-like spots on the arms and legs and light patches on the
arms, legs, and face. These changes appear in childhood and may become more or
less apparent over time. The skin changes do not cause any symptoms, but they
can help doctors diagnose GM3 synthase deficiency in children who also have
seizures and delayed development.
related-gene-list
Gnathodiaphyseal dysplasia https://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia The prevalence of gnathodiaphyseal dysplasia is unknown, but it is thought html:p Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with ad autosomal dominant ANO5 https://ghr.nlm.nih.gov/gene/ANO5 GDD db key 2014-12 2017-12-29
to be a rare disorder. A few affected individuals and families have been this condition have reduced bone mineral density (osteopenia), which causes the gnathodiaphyseal sclerosis GTR C1833736
described in the medical literature. bones to be unusually fragile. As a result, affected individuals typically Levin syndrome 2 db key
experience multiple bone fractures in childhood, often from mild trauma or with osteogenesis imperfecta with unusual skeletal lesions MeSH D010009
no apparent cause. osteogenesis imperfecta, Levin type db key
html:p While most bone tissue is less dense than normal in gnathodiaphyseal dysplasia, OMIM 166260
the outer layer (cortex) of the shafts of the long bones in the arms and legs is db key
abnormally hard and thick (diaphyseal sclerosis). Bowing of the long bones also Orphanet 53697
occurs in this disorder. db key
html:p Jaw problems are common in gnathodiaphyseal dysplasia; the prefix "gnatho-" in SNOMED CT 715568002
the condition name refers to the jaw. Affected individuals may develop bone
infections (osteomyelitis) in the jaw, which can lead to pain, swelling,
discharge of pus from the gums, loose teeth, and slow healing after teeth are
lost or extracted. Areas of the jawbone may lose the protective coverage of the
gums, which can result in deterioration of the exposed bone (osteonecrosis of
the jaw). Also, normal bone in areas of the jaw may be replaced by fibrous
tissue and a hard material called cementum, which normally surrounds the roots
of teeth and anchors them in the jaw. These areas of abnormal bone, called
cementoosseous lesions, may be present at birth or develop later in life.
html:p When gnathodiaphyseal dysplasia was first described, it was thought to be a
variation of another bone disorder called osteogenesis imperfecta, which is also
characterized by frequent bone fractures. However, gnathodiaphyseal dysplasia
is now generally considered to be a separate condition. Unlike in osteogenesis
imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without
causing deformity or loss of height.
related-gene-list
Gordon Holmes syndrome https://ghr.nlm.nih.gov/condition/gordon-holmes-syndrome Gordon Holmes syndrome is a rare condition. Its prevalence is unknown. html:p Gordon Holmes syndrome is a rare condition characterized by reproductive and ar autosomal recessive PNPLA6 https://ghr.nlm.nih.gov/gene/PNPLA6 cerebellar ataxia and hypogonadotropic hypogonadism db key 2017-07 2017-12-29
neurological problems. One of the key features of the condition is reduced related-gene gene-symbol ghr-page deficiency of luteinizing hormone-releasing hormone with ataxia GTR C1859305
production of hormones that direct sexual development (hypogonadotropic RNF216 https://ghr.nlm.nih.gov/gene/RNF216 LHRH deficiency and ataxia db key
hypogonadism). Many affected individuals have a delay in development of the MeSH D002526
typical signs of puberty, such as the growth of facial hair and deepening of the db key
voice in males, and the start of monthly periods (menstruation) and breast MeSH D007006
development in females. Some never undergo puberty. While some people with db key
Gordon Holmes syndrome seem to have normal puberty, they develop other problems OMIM 212840
with the reproductive system later in life.
html:p In early adulthood, individuals with Gordon Holmes syndrome develop neurological
problems, usually beginning with speech difficulties (dysarthria). As the
condition worsens, affected individuals have problems with balance and
coordination (cerebellar ataxia), often leading to difficulties with activities
of daily living and a need for wheelchair assistance. Some affected individuals
also develop memory problems and a decline in intellectual function (dementia).
related-gene-list
Gorlin syndrome https://ghr.nlm.nih.gov/condition/gorlin-syndrome Gorlin syndrome affects an estimated 1 in 31,000 people. While more than 1 html:p Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a ad autosomal dominant PTCH1 https://ghr.nlm.nih.gov/gene/PTCH1 basal cell nevus syndrome db key 2012-10 2017-12-29
戈林症候群 million new cases of basal cell carcinoma are diagnosed each year in the United condition that affects many areas of the body and increases the risk of BCNS GTR C0004779
nevoid basal cell carcinoma syndrome States, fewer than 1 percent of these skin cancers are related to Gorlin developing various cancerous and noncancerous tumors. Gorlin-Goltz syndrome db key
基底細胞痣癌症候群 syndrome. html:p In people with Gorlin syndrome, the type of cancer diagnosed most often is basal NBCCS GeneReviews bcns
(Cancer) cell carcinoma, which is the most common form of skin cancer. Individuals with nevoid basal cell carcinoma syndrome db key
Gorlin syndrome typically begin to develop basal cell carcinomas during MeSH D001478
adolescence or early adulthood. These cancers occur most often on the face, db key
chest, and back. The number of basal cell carcinomas that develop during a OMIM 109400
person's lifetime varies among affected individuals. Some people with Gorlin db key
syndrome never develop any basal cell carcinomas, while others may develop Orphanet 377
thousands of these cancers. Individuals with lighter skin are more likely to db key
develop basal cell carcinomas than are people with darker skin. SNOMED CT 69408002
html:p Most people with Gorlin syndrome also develop noncancerous (benign) tumors of
the jaw, called keratocystic odontogenic tumors. These tumors usually first
appear during adolescence, and new tumors form until about age 30. Keratocystic
odontogenic tumors rarely develop later in adulthood. If untreated, these tumors
may cause painful facial swelling and tooth displacement.
html:p Individuals with Gorlin syndrome have a higher risk than the general population
of developing other tumors. A small proportion of affected individuals develop a
brain tumor called medulloblastoma during childhood. A type of benign tumor
called a fibroma can occur in the heart or in a woman's ovaries. Heart (cardiac)
fibromas often do not cause any symptoms, but they may obstruct blood flow or
cause irregular heartbeats (arrhythmia). Ovarian fibromas are not thought to
affect a woman's ability to have children (fertility).
html:p Other features of Gorlin syndrome include small depressions (pits) in the skin
of the palms of the hands and soles of the feet; an unusually large head size
(macrocephaly) with a prominent forehead; and skeletal abnormalities involving
the spine, ribs, or skull. These signs and symptoms are typically apparent from
birth or become evident in early childhood.
related-gene-list
GRACILE syndrome https://ghr.nlm.nih.gov/condition/gracile-syndrome GRACILE syndrome is found almost exclusively in Finland, where it is html:p GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands ar autosomal recessive BCS1L https://ghr.nlm.nih.gov/gene/BCS1L Fellman syndrome db key 2014-03 2017-12-29
GRACILE綜合症 estimated to affect 1 in 47,000 infants. At least 32 affected infants have been for the condition's characteristic features: growth retardation, aminoaciduria, Finnish lactic acidosis with hepatic hemosiderosis GTR C1864002
described in the medical literature. cholestasis, iron overload, lactic acidosis, and early death. Finnish lethal neonatal metabolic syndrome db key
html:p In GRACILE syndrome, growth before birth is slow (intrauterine growth growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, MeSH D008661
retardation). Affected newborns are smaller than average and have an inability and early death db key
to grow and gain weight at the expected rate (failure to thrive). A OMIM 603358
characteristic of GRACILE syndrome is excess iron in the liver, which likely db key
begins before birth. Iron levels may begin to improve after birth, although they Orphanet 53693
typically remain elevated. Within the first day of life, infants with GRACILE db key
syndrome have a buildup of a chemical called lactic acid in the body (lactic SNOMED CT 703388005
acidosis). They also have kidney problems that lead to an excess of molecules
called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome
have cholestasis, which is a reduced ability to produce and release a digestive
fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis)
in the first few months of life.
html:p Because of the severe health problems caused by GRACILE syndrome, infants with
this condition do not survive for more than a few months, and about half die
within a few days of birth.
related-gene-list
Grange syndrome https://ghr.nlm.nih.gov/condition/grange-syndrome Grange syndrome has been reported to affect at least six individuals from html:p Grange syndrome is a rare condition that primarily affects the blood vessels. It ar autosomal recessive YY1AP1 https://ghr.nlm.nih.gov/gene/YY1AP1 arterial occlusive disease, progressive, with hypertension, heart defects, bone db key 2017-07 2017-12-29
three families. is characterized by narrowing (stenosis) or blockage (occlusion) of arteries fragility, and brachysyndactyly GTR C1865267
that supply blood to various organs and tissues, including the kidneys, brain, Grange occlusive arterial syndrome db key
and heart. Stenosis or occlusion of the arteries that supply blood to the GRNG MeSH D001157
kidneys (renal arteries) can result in chronic high blood pressure db key
(hypertension). Blockage of the arteries that carry blood to the brain (cerebral MeSH D006330
arteries) can cause a stroke. db key
html:p Additional features of Grange syndrome can include short fingers and toes OMIM 602531
(brachydactyly), fusion of some of the fingers or toes (syndactyly), fragile db key
bones that are prone to breakage, and learning disabilities. Most people with Orphanet 79094
this disorder also have heart defects that are present from birth. db key
related-gene-list SNOMED CT 717824007
Granulomatosis with polyangiitis https://ghr.nlm.nih.gov/condition/granulomatosis-with-polyangiitis GPA is a rare disorder that affects an estimated 3 in 100,000 people in the html:p Granulomatosis with polyangiitis (GPA) is a condition that causes inflammation u pattern unknown HLA-DPB1 https://ghr.nlm.nih.gov/gene/HLA-DPB1 GPA db key 2013-07 2017-12-29
肉芽腫併多發性血管炎 United States. that primarily affects the respiratory tract (including the lungs and airways) Wegener granulomatosis GTR C0043092
and the kidneys. This disorder is also commonly known as Wegener granulomatosis. Wegener's granulomatosis db key
A characteristic feature of GPA is inflammation of blood vessels (vasculitis), ICD-10-CM M31.3
particularly the small- and medium-sized blood vessels in the lungs, nose, db key
sinuses, windpipe, and kidneys, although vessels in any organ can be involved. ICD-10-CM M31.30
Polyangiitis refers to the inflammation of multiple types of vessels, such as db key
small arteries and veins. Vasculitis causes scarring and tissue death in the ICD-10-CM M31.31
vessels and impedes blood flow to tissues and organs. db key
html:p Another characteristic feature of GPA is the formation of granulomas, which are MeSH D014890
small areas of inflammation composed of immune cells that aid in the db key
inflammatory reaction. The granulomas usually occur in the lungs or airways of OMIM 608710
people with this condition, although they can occur in the eyes or other organs. db key
As granulomas grow, they can invade surrounding areas, causing tissue damage. Orphanet 900
html:p The signs and symptoms of GPA vary based on the tissues and organs affected by db key
vasculitis. Many people with this condition experience a vague feeling of SNOMED CT 195353004
discomfort (malaise), fever, weight loss, or other general symptoms of the
body's immune reaction. In most people with GPA, inflammation begins in the
vessels of the respiratory tract, leading to nasal congestion, frequent
nosebleeds, shortness of breath, or coughing. Severe inflammation in the nose
can lead to a hole in the tissue that separates the two nostrils (nasal septum
perforation) or a collapse of the septum, causing a sunken bridge of the nose
(saddle nose).
html:p The kidneys are commonly affected in people with GPA. Tissue damage caused by
vasculitis in the kidneys can lead to decreased kidney function, which may cause
increased blood pressure or blood in the urine, and life-threatening kidney
failure. Inflammation can also occur in other regions of the body, including the
eyes, middle and inner ear structures, skin, joints, nerves, heart, and brain.
Depending on which systems are involved, additional symptoms can include skin
rashes, inner ear pain, swollen and painful joints, and numbness or tingling in
the limbs.
html:p GPA is most common in middle-aged adults, although it can occur at any age. If
untreated, the condition is usually fatal within 2 years of diagnosis. Even
after treatment, vasculitis can return.
related-gene-list
Graves disease https://ghr.nlm.nih.gov/condition/graves-disease Graves disease affects about 1 in 200 people. The disease occurs more often html:p Graves disease is a condition that affects the function of the thyroid, which is u pattern unknown CD40 https://ghr.nlm.nih.gov/gene/CD40 autoimmune hyperthyroidism db key 2013-07 2017-12-29
葛瑞夫茲病 in women than in men, which may be related to hormonal factors. Graves disease a butterfly-shaped gland in the lower neck. The thyroid makes hormones that related-gene gene-symbol ghr-page Basedow disease GTR C0018213
is the most common cause of thyroid overactivity (hyperthyroidism) in the United help regulate a wide variety of critical body functions. For example, thyroid CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 Basedow's disease db key
States. hormones influence growth and development, body temperature, heart rate, related-gene gene-symbol ghr-page exophthalmic goiter GTR C1841794
menstrual cycles, and weight. In people with Graves disease, the thyroid is HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 Graves' disease db key
overactive and makes more hormones than the body needs. The condition usually related-gene gene-symbol ghr-page toxic diffuse goiter GTR C1863923
appears in mid-adulthood, although it may occur at any age. IL2RA https://ghr.nlm.nih.gov/gene/IL2RA db key
html:p Excess thyroid hormones can cause a variety of signs and symptoms. These include related-gene gene-symbol ghr-page GTR C2678151
nervousness or anxiety, extreme tiredness (fatigue), a rapid and irregular PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
heartbeat, hand tremors, frequent bowel movements or diarrhea, increased related-gene gene-symbol ghr-page ICD-10-CM E05.0
sweating and difficulty tolerating hot conditions, trouble sleeping, and weight SCGB3A2 https://ghr.nlm.nih.gov/gene/SCGB3A2 db key
loss in spite of an increased appetite. Affected women may have menstrual related-gene gene-symbol ghr-page ICD-10-CM E05.00
irregularities, such as an unusually light menstrual flow and infrequent TG https://ghr.nlm.nih.gov/gene/TG db key
periods. Some people with Graves disease develop an enlargement of the thyroid related-gene gene-symbol ghr-page ICD-10-CM E05.01
called a goiter. Depending on its size, the enlarged thyroid can cause the neck TSHR https://ghr.nlm.nih.gov/gene/TSHR db key
to look swollen and may interfere with breathing and swallowing. MeSH D006111
html:p Between 25 and 50 percent of people with Graves disease have eye abnormalities, db key
which are known as Graves ophthalmopathy. These eye problems can include OMIM 275000
swelling and inflammation, redness, dryness, puffy eyelids, and a gritty db key
sensation like having sand or dirt in the eyes. Some people develop bulging of OMIM 300351
the eyes caused by inflammation of tissues behind the eyeball and "pulling back" db key
(retraction) of the eyelids. Rarely, affected individuals have more serious eye OMIM 603388
problems, such as pain, double vision, and pinching (compression) of the optic db key
nerve connecting the eye and the brain, which can cause vision loss. SNOMED CT 353295004
html:p A small percentage of people with Graves disease develop a skin abnormality
called pretibial myxedema or Graves dermopathy. This abnormality causes the skin
on the front of the lower legs and the tops of the feet to become thick, lumpy,
and red. It is not usually painful.
related-gene-list
Gray platelet syndrome https://ghr.nlm.nih.gov/condition/gray-platelet-syndrome Gray platelet syndrome appears to be a rare disorder. About 60 cases have html:p Gray platelet syndrome is a bleeding disorder associated with abnormal ad autosomal dominant NBEAL2 https://ghr.nlm.nih.gov/gene/NBEAL2 BDPLT4 db key 2014-09 2017-12-29
been reported worldwide. platelets, which are blood cell fragments involved in blood clotting. People code memo bleeding disorder, platelet-type, 4 GTR C0272302
with this condition tend to bruise easily and have an increased risk of ar autosomal recessive deficient alpha granule syndrome db key
nosebleeds (epistaxis). They may also experience abnormally heavy or extended GPS ICD-10-CM D69.1
bleeding following surgery, dental work, or minor trauma. Women with gray grey platelet syndrome db key
platelet syndrome often have irregular, heavy periods (menometrorrhagia). These platelet alpha-granule deficiency MeSH D055652
bleeding problems are usually mild to moderate, but they have been platelet alpha granule deficiency db key
life-threatening in a few affected individuals. platelet granule defect OMIM 139090
html:p A condition called myelofibrosis, which is a buildup of scar tissue (fibrosis) db key
in the bone marrow, is another common feature of gray platelet syndrome. Bone Orphanet 721
marrow is the spongy tissue in the center of long bones that produces most of db key
the blood cells the body needs, including platelets. The scarring associated SNOMED CT 51720005
with myelofibrosis damages bone marrow, preventing it from making enough blood
cells. Other organs, particularly the spleen, start producing more blood cells
to compensate; this process often leads to an enlarged spleen (splenomegaly).
related-gene-list
Greenberg dysplasia https://ghr.nlm.nih.gov/condition/greenberg-dysplasia Greenberg dysplasia is a very rare condition. Approximately ten cases have html:p Greenberg dysplasia is a severe condition characterized by specific bone ar autosomal recessive LBR https://ghr.nlm.nih.gov/gene/LBR chondrodystrophy, hydropic and prenatally lethal type db key 2012-02 2017-12-29
been reported in the scientific literature. abnormalities in the developing fetus. This condition is fatal before birth. Greenberg skeletal dysplasia GTR C1300226
html:p The bones of affected individuals do not develop properly, causing a distinctive HEM dysplasia db key
spotted appearance called moth-eaten bone, which is visible on x-ray images. In HEM skeletal dysplasia MeSH D010009
addition, the bones have abnormal calcium deposits (ectopic calcification). hydrops - ectopic calcification - moth-eaten skeletal dysplasia db key
Affected individuals have extremely short bones in the arms and legs and moth-eaten skeletal dysplasia OMIM 215140
abnormally flat vertebrae (platyspondyly). Other skeletal abnormalities may db key
include short ribs and extra fingers (polydactyly). In addition, affected Orphanet 1426
fetuses have extensive swelling of the body caused by fluid accumulation db key
(hydrops fetalis). Greenberg dysplasia is also called hydrops-ectopic SNOMED CT 389261002
calcification-moth-eaten skeletal dysplasia (HEM), which reflects the
condition's most common features.
related-gene-list
Greig cephalopolysyndactyly syndrome https://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome This condition is very rare; its prevalence is unknown. html:p Greig cephalopolysyndactyly syndrome is a disorder that affects development of ad autosomal dominant GLI3 https://ghr.nlm.nih.gov/gene/GLI3 cephalopolysyndactyly syndrome db key 2016-11 2017-12-29
the limbs, head, and face. The features of this syndrome are highly variable, related-chromosome name ghr-page GCPS GTR C0265306
ranging from very mild to severe. People with this condition typically have one 7 https://ghr.nlm.nih.gov/chromosome/7 db key
or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big GeneReviews gcps
toe (hallux). The skin between the fingers and toes may be fused (cutaneous db key
syndactyly). This disorder is also characterized by widely spaced eyes (ocular MeSH D017689
hypertelorism), an abnormally large head size (macrocephaly), and a high, db key
prominent forehead. Rarely, affected individuals may have more serious medical OMIM 175700
problems including seizures, delayed development, and intellectual disability. db key
Orphanet 380
db key
related-gene-list SNOMED CT 32985001
Griscelli syndrome https://ghr.nlm.nih.gov/condition/griscelli-syndrome Griscelli syndrome is a rare condition; its prevalence is unknown. Type 2 html:p Griscelli syndrome is an inherited condition characterized by unusually light ar autosomal recessive MLPH https://ghr.nlm.nih.gov/gene/MLPH GS db key 2013-09 2017-12-29
格里塞利綜合症 appears to be the most common of the three known types. (hypopigmented) skin and light silvery-gray hair starting in infancy. related-gene gene-symbol ghr-page hypopigmentation immunodeficiency disease GTR C1836573
Researchers have identified three types of this disorder, which are MYO5A https://ghr.nlm.nih.gov/gene/MYO5A partial albinism with immunodeficiency db key
distinguished by their genetic cause and pattern of signs and symptoms. related-gene gene-symbol ghr-page GTR C1859194
html:p Griscelli syndrome type 1 involves severe problems with brain function in RAB27A https://ghr.nlm.nih.gov/gene/RAB27A db key
addition to the distinctive skin and hair coloring. Affected individuals GTR C1868679
typically have delayed development, intellectual disability, seizures, weak db key
muscle tone (hypotonia), and eye and vision abnormalities. Another condition MeSH D017496
called Elejalde disease has many of the same signs and symptoms, and some db key
researchers have proposed that Griscelli syndrome type 1 and Elejalde disease OMIM 214450
are actually the same disorder. db key
html:p People with Griscelli syndrome type 2 have immune system abnormalities in OMIM 256710
addition to having hypopigmented skin and hair. Affected individuals are prone db key
to recurrent infections. They also develop an immune condition called OMIM 607624
hemophagocytic lymphohistiocytosis (HLH), in which the immune system produces db key
too many activated immune cells called T-lymphocytes and macrophages OMIM 609227
(histiocytes). Overactivity of these cells can damage organs and tissues db key
throughout the body, causing life-threatening complications if the condition is Orphanet 381
untreated. People with Griscelli syndrome type 2 do not have the neurological db key
abnormalities of type 1. SNOMED CT 37548006
html:p Unusually light skin and hair coloring are the only features of Griscelli
syndrome type 3. People with this form of the disorder do not have neurological
abnormalities or immune system problems.
inheritance-pattern-list related-gene-list
GRN-related frontotemporal dementia https://ghr.nlm.nih.gov/condition/grn-related-frontotemporal-dementia GRN-related frontotemporal dementia affects an estimated 3 to 15 per html:p GRN-related frontotemporal dementia is a progressive brain disorder that can affect behavior, language, and movement. ad autosomal dominant GRN synonym db-key db key 2010-09 2017-12-29
GRN-關連額顳葉型失智症 100,000 people aged 45 to 64. This condition accounts for 5 to 10 percent of all The symptoms of this disorder usually become noticeable in a person's fifties or sixties, synonym GTR C1843792
cases of frontotemporal dementia. and affected people typically survive 6 to 7 years after the appearance of symptoms. synonym db-key db key
However, the features of this condition vary significantly, synonym GeneReviews ftd-grn
even among affected members of the same family. synonym db-key db key
synonym MeSH D057180
html:p Behavioral changes are the most common early signs of GRN-related synonym db-key db key
frontotemporal dementia. These include marked changes in personality, judgment, synonym OMIM 607485
and insight. It may become difficult for affected individuals to interact with others in synonym db-key db key
a socially appropriate manner. Affected people may also become easily distracted and synonym Orphanet 282
unable to complete tasks. They increasingly require help with personal care and other activities of daily living. synonym db-key db key
html:p Many people with GRN-related frontotemporal dementia develop progressive problems SNOMED CT 702426001
with speech and language (aphasia). Affected individuals may have trouble speaking,
remembering words and names (dysnomia), and understanding speech. Over time, they may completely lose the ability to communicate.
html:p Some people with GRN-related frontotemporal dementia also develop
movement disorders, such as parkinsonism and corticobasal syndrome. The signs
and symptoms of these disorders include tremors, rigidity, unusually slow movement
(bradykinesia), involuntary muscle spasms (myoclonus), uncontrolled muscle tensing (dystonia),
and an inability to carry out purposeful movements (apraxia).
related-gene-list
Guanidinoacetate methyltransferase deficiency https://ghr.nlm.nih.gov/condition/guanidinoacetate-methyltransferase-deficiency Guanidinoacetate methyltransferase deficiency is a very rare disorder. html:p Guanidinoacetate methyltransferase deficiency is an inherited disorder that ar autosomal recessive GAMT https://ghr.nlm.nih.gov/gene/GAMT creatine deficiency syndrome due to GAMT deficiency db key 2015-06 2017-12-29
胍基乙酸甲基轉移酶缺乏症 About 80 affected individuals have been described in the medical literature. Of primarily affects the brain and muscles. Without early treatment, people with deficiency of guanidinoacetate methyltransferase GTR C0574080
these, approximately one-third are of Portuguese origin. this disorder have neurological problems that are usually severe. These problems GAMT deficiency db key
include intellectual disability, speech development limited to a few words, and GeneReviews creatine
recurrent seizures (epilepsy). Affected individuals may also exhibit autistic db key
behaviors that affect communication and social interaction or self-injurious MeSH D008661
behaviors such as head-banging. Other features of this disorder can include db key
involuntary movements (extrapyramidal dysfunction) such as tremors or facial OMIM 612736
tics. db key
html:p People with guanidinoacetate methyltransferase deficiency may have weak muscle Orphanet 382
tone and delayed development of motor skills such as sitting or walking. In db key
severe cases they may lose previously acquired skills such as the ability to SNOMED CT 124239003
support their head or to sit unsupported.
related-gene-list
Guillain-Barré syndrome https://ghr.nlm.nih.gov/condition/guillain-barre-syndrome The prevalence of Guillain-Barré syndrome is estimated to be 6 to 40 cases html:p Guillain-Barré syndrome is an autoimmune disorder that affects the nerves. u pattern unknown TNF https://ghr.nlm.nih.gov/gene/TNF acute infectious polyneuritis db key 2011-09 2017-12-29
格林－巴利综合征 per 1 million people. The occurrence of the different types of Guillain-Barré Autoimmune disorders occur when the immune system malfunctions and attacks the acute inflammatory polyneuropathy GTR C1841700
syndrome varies across regions. AIDP is the most common type in North America body's own tissues and organs. In Guillain-Barré syndrome, the immune response Fisher syndrome db key
and Europe, accounting for approximately 90 percent of cases of Guillain-Barré damages peripheral nerves, which are the nerves that connect the central nervous GBS ICD-10-CM G61.0
syndrome in those regions. AMAN and AMSAN together account for 30 to 50 percent system (the brain and spinal cord) to the limbs and organs. Specifically, the Guillain-Barre syndrome db key
of cases in Asian countries and Latin America but only 3 to 5 percent of cases immune response affects a particular part of peripheral nerves called axons, Landry-Guillain-Barre syndrome ICD-10-CM G65.0
in North America and Europe. Miller Fisher syndrome is also more common in Asian which are the extensions of nerve cells (neurons) that transmit nerve impulses. db key
countries, accounting for approximately 20 percent of cases in these countries Guillain-Barré syndrome can affect the neurons that control muscle movement MeSH D020275
but less than 5 percent in North America and Europe. (motor neurons); the neurons that transmit sensory signals such as pain, db key
temperature, and touch (sensory neurons); or both. As a result, affected OMIM 139393
individuals can experience muscle weakness or lose the ability to feel certain db key
sensations. Orphanet 2103
html:p Muscle weakness or paralysis are the characteristic features of Guillain-Barré db key
syndrome. The weakness often begins in the legs and spreads to the arms, torso, Orphanet 98916
and face and is commonly accompanied by numbness, tingling, or pain. Additional db key
signs and symptoms of the condition include difficulty swallowing and difficulty Orphanet 98917
breathing. Occasionally, the nerves that control involuntary functions of the db key
body such as blood pressure and heart rate are affected, which can lead to Orphanet 98918
fluctuating blood pressure or an abnormal heartbeat (cardiac arrhythmia). db key
html:p There are several types of Guillain-Barré syndrome, classified by the part of SNOMED CT 40956001
the peripheral nerve involved in the condition. The most common type of
Guillain-Barré syndrome is acute inflammatory demyelinating
polyradiculoneuropathy (AIDP). In AIDP, the immune response damages myelin,
which is the covering that protects axons and promotes the efficient
transmission of nerve impulses. In two other types of Guillain-Barré syndrome,
acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy
(AMSAN), the axons themselves are damaged by the immune response. In AMAN, only
the axons of motor neurons are damaged. In AMSAN, the axons of sensory neurons
are also damaged. Because of sensory nerve damage, affected individuals can lose
the ability to sense the position of their limbs and can have abnormal or
absent reflexes (areflexia).
html:p Miller Fisher syndrome, another type of Guillain-Barré syndrome, involves
cranial nerves, which extend from the brain to various areas of the head and
neck. Miller Fisher syndrome is characterized by three features: weakness or
paralysis of the muscles that move the eyes (ophthalmoplegia), problems with
balance and coordination (ataxia), and areflexia. People with this condition can
have other signs and symptoms common in Guillain-Barré syndrome, such as muscle
weakness.
html:p Guillain-Barré syndrome occurs in people of all ages. The development of the
condition usually follows a pattern. Prior to developing the condition, most
people with Guillain-Barré syndrome have a bacterial or viral infection. The
first phase of Guillain-Barré syndrome, during which signs and symptoms of the
condition worsen, can last up to four weeks, although the peak of the illness is
usually reached in one to two weeks. During the second phase, called the
plateau, signs and symptoms of Guillain-Barré syndrome stabilize. This phase can
last weeks or months. During the recovery phase, symptoms improve. However,
some people with Guillain-Barré syndrome never fully recover and can still
experience excessive tiredness (fatigue), muscle weakness, or muscle pain.
related-gene-list
Gyrate atrophy of the choroid and retina https://ghr.nlm.nih.gov/condition/gyrate-atrophy-of-the-choroid-and-retina More than 150 individuals with gyrate atrophy have been identified; html:p Gyrate atrophy of the choroid and retina, which is often shortened to gyrate ar autosomal recessive OAT https://ghr.nlm.nih.gov/gene/OAT gyrate atrophy db key 2009-08 2017-12-29
(Vision) approximately one third are from Finland. atrophy, is an inherited disorder characterized by progressive vision loss. HOGA GTR C0599035
People with this disorder have an ongoing loss of cells (atrophy) in the retina, hyperornithinemia with gyrate atrophy of choroid and retina db key
which is the specialized light-sensitive tissue that lines the back of the eye, OAT deficiency ICD-10-CM H31.23
and in a nearby tissue layer called the choroid. During childhood, they begin OKT deficiency db key
experiencing nearsightedness (myopia), difficulty seeing in low light (night ornithine aminotransferase deficiency MeSH D015799
blindness), and loss of side (peripheral) vision. Over time, their field of ornithine-delta-aminotransferase deficiency db key
vision continues to narrow, resulting in tunnel vision. Many people with gyrate ornithine keto acid aminotransferase deficiency OMIM 258870
atrophy also develop clouding of the lens of the eyes (cataracts). These Ornithinemia with gyrate atrophy db key
progressive vision changes lead to blindness by about the age of 50. Orphanet 414
html:p Most people with gyrate atrophy have no symptoms other than vision loss, but db key
some have additional features of the disorder. Occasionally, newborns with SNOMED CT 314467007
gyrate atrophy develop excess ammonia in the blood (hyperammonemia), which may
lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia
associated with gyrate atrophy generally responds quickly to treatment and does
not recur after the newborn period.
html:p Gyrate atrophy usually does not affect intelligence; however, abnormalities may
be observed in brain imaging or other neurological testing. In some cases, mild
to moderate intellectual disability is associated with gyrate atrophy.
html:p Gyrate atrophy may also cause disturbances in the nerves connecting the brain
and spinal cord to muscles and sensory cells (peripheral nervous system). In
some people with the disorder these abnormalities lead to numbness, tingling, or
pain in the hands or feet, while in others they are detectable only by
electrical testing of the nerve impulses.
html:p In some people with gyrate atrophy, a particular type of muscle fibers (type II
fibers) break down over time. While this muscle abnormality usually causes no
symptoms, it may result in mild weakness.
related-gene-list
Hajdu-Cheney syndrome https://ghr.nlm.nih.gov/condition/hajdu-cheney-syndrome Hajdu-Cheney syndrome is a rare disease; its prevalence is unknown. Fewer html:p Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, ad autosomal dominant NOTCH2 https://ghr.nlm.nih.gov/gene/NOTCH2 acroosteolysis dominant type db key 2015-02 2017-12-29
than 100 affected individuals have been described in the medical literature. particularly the bones. Loss of bone tissue from the hands and feet acroosteolysis with osteoporosis and changes in skull and mandible GTR C0917715
(acro-osteolysis) is a characteristic feature of the condition. The fingers and arthro-dento-osteo dysplasia db key
toes are short and broad, and they may become shorter over time as bone at the arthrodentoosteodysplasia MeSH D031845
tips continues to break down. Bone loss in the fingers can interfere with fine Cheney syndrome db key
motor skills, such as picking up small objects. cranioskeletal dysplasia with acro-osteolysis OMIM 102500
html:p Bone abnormalities throughout the body are common in Hajdu-Cheney syndrome. familial osteodysplasia db key
Affected individuals develop osteoporosis, which causes the bones to be brittle hereditary osteodysplasia with acro-osteolysis Orphanet 955
and prone to fracture. Many affected individuals experience breakage HJCYS db key
(compression fractures) of the spinal bones (vertebrae). Some also develop serpentine fibula-polycystic kidney syndrome SNOMED CT 63122002
abnormal curvature of the spine (scoliosis or kyphosis). Hajdu-Cheney syndrome SFPKS
also affects the shape and strength of the long bones in the arms and legs. The
abnormalities associated with this condition lead to short stature.
html:p Hajdu-Cheney syndrome also causes abnormalities of the skull bones, including
the bones of the face. The shape of the skull is often described as
dolichocephalic, which means it is elongated from back to front. In many
affected individuals, the bone at the back of the skull bulges outward, causing
a bump called a prominent occiput. Distinctive facial features associated with
this condition include widely spaced and downward-slanting eyes, eyebrows that
grow together in the middle (synophrys), low-set ears, a sunken appearance of
the middle of the face (midface hypoplasia), and a large space between the nose
and upper lip (a long philtrum). Some affected children are born with an opening
in the roof of the mouth called a cleft palate or with a high arched palate. In
affected adults, the facial features are often described as "coarse."
html:p Other features of Hajdu-Cheney syndrome found in some affected individuals
include joint abnormalities, particularly an unusually large range of joint
movement (hypermobility); dental problems; hearing loss; a deep, gravelly voice;
excess body hair; recurrent infections in childhood; heart defects; and kidney
abnormalities such as the growth of multiple fluid-filled cysts (polycystic
kidneys). Some people with this condition have delayed development in childhood,
but the delays are usually mild.
html:p The most serious complications of Hajdu-Cheney syndrome, which occur in about
half of all affected individuals, are abnormalities known as platybasia and
basilar invagination. Platybasia is a flattening of the base of the skull caused
by thinning and softening of the skull bones. Basilar invagination occurs when
the softened bones allow part of the spine to protrude abnormally through the
opening at the bottom of the skull, pushing into the lower parts of the brain.
These abnormalities can lead to severe neurological problems, including
headaches, abnormal vision and balance, a buildup of fluid in the brain
(hydrocephalus), abnormal breathing, and sudden death.
html:p The signs and symptoms of Hajdu-Cheney syndrome vary greatly among affected
individuals, even among members of the same family. Many of the disorder's
features, such as acro-osteolysis and some of the characteristic facial
features, are not present at birth but become apparent in childhood or later.
The risk of developing platybasia and basilar invagination also increases over
time.
html:p The features of Hajdu-Cheney syndrome overlap significantly with those of a
condition called serpentine fibula-polycystic kidney syndrome (SFPKS). Although
they used to be considered separate disorders, researchers discovered that the
two conditions are associated with mutations in the same gene. Based on these
similarities, many researchers now consider Hajdu-Cheney syndrome and SFPKS to
be variants of the same condition.
related-gene-list
Hand-foot-genital syndrome https://ghr.nlm.nih.gov/condition/hand-foot-genital-syndrome Hand-foot-genital syndrome is very rare; only a few families with the html:p Hand-foot-genital syndrome is a rare condition that affects the development of ad autosomal dominant HOXA13 https://ghr.nlm.nih.gov/gene/HOXA13 Hand-foot-uterus syndrome db key 2008-04 2017-12-29
condition have been reported worldwide. the hands and feet, the urinary tract, and the reproductive system. People with HFG syndrome GTR C1841679
this condition have abnormally short thumbs and first (big) toes, small fifth HFGS db key
fingers that curve inward (clinodactyly), short feet, and fusion or delayed HFU syndrome GeneReviews hfg
hardening of bones in the wrists and ankles. The other bones in the arms and db key
legs are normal. MeSH D005532
html:p Abnormalities of the genitals and urinary tract can vary among affected db key
individuals. Many people with hand-foot-genital syndrome have defects in the MeSH D006228
ureters, which are tubes that carry urine from each kidney to the bladder, or in db key
the urethra, which carries urine from the bladder to the outside of the body. MeSH D014564
Recurrent urinary tract infections and an inability to control the flow of urine db key
(urinary incontinence) have been reported. About half of males with this OMIM 140000
disorder have the urethra opening on the underside of the penis (hypospadias). db key
html:p People with hand-foot-genital syndrome are usually able to have children Orphanet 2438
(fertile). In some affected females, problems in the early development of the db key
uterus can later increase the risk of pregnancy loss, premature labor, and SNOMED CT 702425002
stillbirth.
related-gene-list
Harlequin ichthyosis https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis Harlequin ichthyosis is very rare; its exact incidence is unknown. html:p Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. ar autosomal recessive ABCA12 https://ghr.nlm.nih.gov/gene/ABCA12 Harlequin baby syndrome db key 2008-11 2017-12-29
斑色魚鱗癬 Infants with this condition are born with very hard, thick skin covering most HI GTR C0239849
(skin) of their bodies. The skin forms large, diamond-shaped plates that are separated Ichthyosis Congenita, Harlequin Fetus Type db key
by deep cracks (fissures). These skin abnormalities affect the shape of the GeneReviews li-ar
eyelids, nose, mouth, and ears, and limit movement of the arms and legs. db key
Restricted movement of the chest can lead to breathing difficulties and ICD-10-CM Q80.4
respiratory failure. db key
html:p The skin normally forms a protective barrier between the body and its MeSH D016113
surrounding environment. The skin abnormalities associated with harlequin db key
ichthyosis disrupt this barrier, making it more difficult for affected infants OMIM 242500
to control water loss, regulate their body temperature, and fight infections. db key
Infants with harlequin ichthyosis often experience an excessive loss of fluids Orphanet 457
(dehydration) and develop life-threatening infections in the first few weeks of db key
life. It used to be very rare for affected infants to survive the newborn SNOMED CT 205548006
period. However, with intensive medical support and improved treatment, people db key
with this disorder now have a better chance of living into childhood and SNOMED CT 268245001
adolescence.
related-gene-list
Hartnup disease https://ghr.nlm.nih.gov/condition/hartnup-disease Hartnup disease is estimated to affect 1 in 30,000 individuals. html:p Hartnup disease is a condition caused by the body's inability to absorb certain ar autosomal recessive SLC6A19 https://ghr.nlm.nih.gov/gene/SLC6A19 Hartnup disorder db key 2016-05 2017-12-29
哈勒普氏病 protein building blocks (amino acids) from the diet. As a result, affected Hartnup's disease GTR C0018609
individuals are not able to use these amino acids to produce other substances, neutral amino acid transport defect db key
such as vitamins and proteins. Most people with Hartnup disease are able to get ICD-10-CM E72.02
the vitamins and other substances they need with a well-balanced diet. db key
html:p People with Hartnup disease have high levels of various amino acids in their MeSH D006250
urine (aminoaciduria). For most affected individuals, this is the only sign of db key
the condition. However, some people with Hartnup disease have episodes during OMIM 234500
which they exhibit other signs, which can include skin rashes; difficulty db key
coordinating movements (cerebellar ataxia); and psychiatric symptoms, such as Orphanet 2116
depression or psychosis. These episodes are typically temporary and are often db key
triggered by illness, stress, nutrient-poor diet, or fever. These features tend SNOMED CT 80902009
to go away once the trigger is remedied, although the aminoaciduria remains. In
affected individuals, signs and symptoms most commonly occur in childhood.
related-gene-list
Hartsfield syndrome https://ghr.nlm.nih.gov/condition/hartsfield-syndrome Hartsfield syndrome appears to be a rare disorder. Fewer than 20 cases have html:p Hartsfield syndrome is a rare condition characterized by holoprosencephaly, ad autosomal dominant FGFR1 https://ghr.nlm.nih.gov/gene/FGFR1 Hartsfield-Bixler-Demyer syndrome db key 2016-10 2017-12-29
Holoprosencephaly been reported in the medical literature. For unknown reasons, most of the which is an abnormality of brain development, and a malformation of the hands code memo HHES GTR C1845146
前腦發育畸形症 people who have been diagnosed with this disorder are male. and feet called ectrodactyly. ar autosomal recessive holoprosencephaly and split hand/foot syndrome db key
html:p During early development before birth, the brain normally divides into two holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate GeneReviews hartsfield
halves, the right and left hemispheres. Holoprosencephaly occurs when the brain holoprosencephaly, hypertelorism, and ectrodactyly syndrome db key
fails to divide properly. In the most severe forms of holoprosencephaly, the MeSH D006228
brain does not divide at all. These affected individuals have one central eye db key
(cyclopia) and a tubular nasal structure (proboscis) located above the eye. Most MeSH D016142
babies with severe holoprosencephaly die before birth or soon after. In less db key
severe cases of holoprosencephaly, the brain is partially divided. The life OMIM 615465
expectancy of these affected individuals depends on the severity of signs and db key
symptoms. Orphanet 2117
html:p People with Hartsfield syndrome often have other brain abnormalities associated
with holoprosencephaly. Affected individuals may have a malfunctioning
pituitary, which is a gland located at the base of the brain that produces
several hormones. Because pituitary dysfunction leads to the partial or complete
absence of these hormones, it can cause a variety of disorders. These include
diabetes insipidus, which disrupts the balance between fluid intake and urine
excretion; a shortage (deficiency) of growth hormone, leading to slow or delayed
growth; and hypogonadotropic hypogonadism, which affects the production of
hormones that direct sexual development. Dysfunction in other parts of the brain
can cause seizures, feeding difficulties, and problems regulating body
temperature and sleep patterns. People with Hartsfield syndrome have delayed
development that ranges from mild to severe.
html:p The other hallmark feature of Hartsfield syndrome is ectrodactyly. Ectrodactyly
is a deep split in the hands, feet, or both, with missing fingers or toes and
partial fusion of the remaining digits. It can affect the hands and feet on one
or both sides. Other features that have been described in people with Hartsfield
syndrome include premature fusion of certain bones of the skull
(craniosynostosis), heart defects, abnormalities of the bones of the spine
(vertebrae), and abnormal genitalia. Some affected individuals have distinctive
facial features, including eyes that are widely spaced (hypertelorism) or
closely spaced (hypotelorism), ears that are abnormally small or unusually
shaped, and a split in the lip (cleft lip) with or without an opening in the
roof of the mouth (cleft palate).
related-gene-list
Hashimoto thyroiditis https://ghr.nlm.nih.gov/condition/hashimoto-thyroiditis Hashimoto thyroiditis affects 1 to 2 percent of people in the United html:p Hashimoto thyroiditis is a condition that affects the function of the thyroid, u pattern unknown CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 autoimmune chronic lymphocytic thyroiditis db key 2013-07 2017-12-29
橋本氏甲狀腺炎 States. It occurs more often in women than in men, which may be related to which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones related-gene gene-symbol ghr-page autoimmune thyroiditis GTR C0677607
hormonal factors. The condition is the most common cause of thyroid that help regulate a wide variety of critical body functions. For example, HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 chronic lymphocytic thyroiditides db key
underactivity (hypothyroidism) in the United States. thyroid hormones influence growth and development, body temperature, heart rate, related-gene gene-symbol ghr-page chronic lymphocytic thyroiditis ICD-10-CM E06.3
menstrual cycles, and weight. Hashimoto thyroiditis is a form of chronic TG https://ghr.nlm.nih.gov/gene/TG Hashimoto disease db key
inflammation that can damage the thyroid, reducing its ability to produce Hashimoto struma MeSH D050031
hormones. Hashimoto syndrome db key
html:p One of the first signs of Hashimoto thyroiditis is an enlargement of the thyroid Hashimoto's disease OMIM 140300
called a goiter. Depending on its size, the enlarged thyroid can cause the neck lymphocytic thyroiditis db key
to look swollen and may interfere with breathing and swallowing. As damage to Orphanet 855
the thyroid continues, the gland can shrink over a period of years and the db key
goiter may eventually disappear. SNOMED CT 21983002
html:p Other signs and symptoms resulting from an underactive thyroid can include
excessive tiredness (fatigue), weight gain or difficulty losing weight, hair
that is thin and dry, a slow heart rate, joint or muscle pain, and constipation.
People with this condition may also have a pale, puffy face and feel cold even
when others around them are warm. Affected women can have heavy or irregular
menstrual periods and difficulty conceiving a child (impaired fertility).
Difficulty concentrating and depression can also be signs of a shortage of
thyroid hormones.
html:p Hashimoto thyroiditis usually appears in mid-adulthood, although it can occur
earlier or later in life. Its signs and symptoms tend to develop gradually over
months or years.
related-gene-list
Head and neck squamous cell carcinoma https://ghr.nlm.nih.gov/condition/head-and-neck-squamous-cell-carcinoma HNSCC is the seventh most common cancer worldwide. Approximately 600,000 html:p Squamous cell carcinoma is a cancer that arises from particular cells called n not inherited CDKN2A https://ghr.nlm.nih.gov/gene/CDKN2A HNSCC db key 2015-01 2017-12-29
頭頸部鳞状细胞癌 new cases are diagnosed each year, including about 50,000 in the United States. squamous cells. Squamous cells are found in the outer layer of skin and in the related-gene gene-symbol ghr-page SCCHN GTR C1168401
HNSCC occurs most often in men in their 50s or 60s, although the incidence among mucous membranes, which are the moist tissues that line body cavities such as FAT1 https://ghr.nlm.nih.gov/gene/FAT1 squamous cell carcinoma of the head and neck db key
younger individuals is increasing. the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) related-gene gene-symbol ghr-page MeSH D002294
develops in the mucous membranes of the mouth, nose, and throat. HRAS https://ghr.nlm.nih.gov/gene/HRAS db key
html:p HNSCC is classified by its location: it can occur in the mouth (oral cavity), related-gene gene-symbol ghr-page MeSH D006258
the middle part of the throat near the mouth (oropharynx), the space behind the NOTCH1 https://ghr.nlm.nih.gov/gene/NOTCH1 db key
nose (nasal cavity and paranasal sinuses), the upper part of the throat near the related-gene gene-symbol ghr-page OMIM 275355
nasal cavity (nasopharynx), the voicebox (larynx), or the lower part of the PIK3CA https://ghr.nlm.nih.gov/gene/PIK3CA db key
throat near the larynx (hypopharynx). Depending on the location, the cancer can related-gene gene-symbol ghr-page Orphanet 67037
cause abnormal patches or open sores (ulcers) in the mouth and throat, unusual PTEN https://ghr.nlm.nih.gov/gene/PTEN db key
bleeding or pain in the mouth, sinus congestion that does not clear, sore related-gene gene-symbol ghr-page SNOMED CT 405822008
throat, earache, pain when swallowing or difficulty swallowing, a hoarse voice, TP53 https://ghr.nlm.nih.gov/gene/TP53 db key
difficulty breathing, or enlarged lymph nodes. SNOMED CT 408649007
html:p HNSCC can spread (metastasize) to other parts of the body, such as the lymph db key
nodes or lungs. If it spreads, the cancer has a worse prognosis and can be SNOMED CT 419842002
fatal. About half of affected individuals survive more than five years after
diagnosis.
Hemochromatosis
血鐵沉積症(血色素沉著病)
related-gene-list
Hemophilia https://ghr.nlm.nih.gov/condition/hemophilia The two major forms of hemophilia occur much more commonly in males than in html:p Hemophilia is a bleeding disorder that slows the blood clotting process. People xr X-linked recessive F8 https://ghr.nlm.nih.gov/gene/F8 Hemophilia, familial db key 2012-08 2017-12-29
血友病 females. Hemophilia A is the most common type of the condition; 1 in 4,000 to 1 with this condition experience prolonged bleeding or oozing following an injury, related-gene gene-symbol ghr-page Hemophilia, hereditary GTR C0008533
in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in surgery, or having a tooth pulled. In severe cases of hemophilia, continuous F9 https://ghr.nlm.nih.gov/gene/F9 db key
approximately 1 in 20,000 newborn males worldwide. bleeding occurs after minor trauma or even in the absence of injury (spontaneous GTR C0019069
bleeding). Serious complications can result from bleeding into the joints, db key
hemophilia A=Factor VIII deficiency muscles, brain, or other internal organs. Milder forms of hemophilia do not GTR C0684275
(Blood) necessarily involve spontaneous bleeding, and the condition may not become db key
apparent until abnormal bleeding occurs following surgery or a serious injury. GTR CN043453
html:p The major types of this condition are hemophilia A (also known as classic db key
hemophilia B=Factor IX deficiency hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas GeneReviews hemo-a
(Blood) disease or factor IX deficiency). Although the two types have very similar signs db key
and symptoms, they are caused by mutations in different genes. People with an GeneReviews hemo-b
unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes db key
of excessive bleeding in childhood but have few bleeding problems after puberty. ICD-10-CM D66
db key
ICD-10-CM D67
db key
ICD-10-CM D68.311
db key
ICD-10-CM M36.2
db key
ICD-10-CM Z14.01
db key
ICD-10-CM Z14.02
db key
MeSH D002836
db key
MeSH D006467
db key
OMIM 306700
db key
OMIM 306900
db key
Orphanet 448
db key
SNOMED CT 41788008
db key
related-gene-list SNOMED CT 90935002
Hennekam syndrome https://ghr.nlm.nih.gov/condition/hennekam-syndrome At least 50 cases of Hennekam syndrome have been reported worldwide. html:p Hennekam syndrome is an inherited disorder resulting from malformation of the ar autosomal recessive CCBE1 https://ghr.nlm.nih.gov/gene/CCBE1 generalized lymphatic dysplasia db key 2014-07 2017-12-29
Hennekam淋巴管扩张-淋巴水肿综合征 lymphatic system, which is part of both the circulatory system and immune related-gene gene-symbol ghr-page Hennekam lymphangiectasia-lymphedema syndrome GTR C0340834
system. The lymphatic system consists of a network of vessels that transport FAT4 https://ghr.nlm.nih.gov/gene/FAT4 intestinal lymphagiectasia-lymphedema-mental retardation syndrome db key
lymph fluid and immune cells throughout the body. lymphedema-lymphangiectasia-intellectual disability syndrome GTR C4014939
html:p The characteristic signs and symptoms of Hennekam syndrome are lymphatic vessels db key
that are abnormally expanded (lymphangiectasia), particularly the vessels that MeSH D008201
transport lymph fluid to and from the intestines; puffiness or swelling caused db key
by a buildup of fluid (lymphedema); and unusual facial features. OMIM 235510
html:p Lymphangiectasia often impedes the flow of lymph fluid and can cause the db key
affected vessels to break open (rupture). In the intestines, ruptured vessels OMIM 616006
can lead to accumulation of lymph fluid, which interferes with the absorption of db key
nutrients, fats, and proteins. Accumulation of lymph fluid in the abdomen can Orphanet 2136
cause swelling (chylous ascites). Lymphangiectasia can also affect the kidneys, db key
thyroid gland, the outer covering of the lungs (the pleura), the membrane SNOMED CT 234146006
covering the heart (pericardium), or the skin.
html:p The lymphedema in Hennekam syndrome is often noticeable at birth and usually
affects the face and limbs. Severely affected infants may have extensive
swelling caused by fluid accumulation before birth (hydrops fetalis). The
lymphedema usually affects one side of the body more severely than the other
(asymmetric) and slowly worsens over time.
html:p Facial features of people with Hennekam syndrome may include a flattened
appearance to the middle of the face and the bridge of the nose, puffy eyelids,
widely spaced eyes (hypertelorism), small ears, and a small mouth with
overgrowth of the gums (gingival hypertrophy). Affected individuals may also
have an unusually small head (microcephaly) and premature fusion of the skull
bones (craniosynostosis).
html:p Individuals with Hennekam syndrome often have intellectual disability that
ranges from mild to severe, although most are on the mild end of the range and
some have normal intellect. Many individuals with Hennekam syndrome have growth
delay, respiratory problems, permanently bent fingers and toes (camptodactyly),
or fusion of the skin between the fingers and toes (cutaneous syndactyly).
html:p Abnormalities found in a few individuals with Hennekam syndrome include a
moderate to severe shortage of red blood cells (anemia) resulting from an
inadequate amount (deficiency) of iron in the bloodstream, multiple spleens
(polysplenia), misplaced kidneys, genital anomalies, a soft out-pouching around
the belly-button (umbilical hernia), heart abnormalities, hearing loss,
excessive body hair growth (hirsutism), a narrow upper chest that may have a
sunken appearance (pectus excavatum), an abnormal side-to-side curvature of the
spine (scoliosis), and inward- and upward-turning feet (clubfeet).
html:p The signs and symptoms of Hennekam syndrome vary widely among affected
individuals, even those within the same family. Life expectancy depends on the
severity of the condition and can vary from death in childhood to survival into
adulthood.
related-gene-list
Hepatic lipase deficiency https://ghr.nlm.nih.gov/condition/hepatic-lipase-deficiency Hepatic lipase deficiency is likely a rare disorder; only a few affected html:p Hepatic lipase deficiency is a disorder that affects the body's ability to break ar autosomal recessive LIPC https://ghr.nlm.nih.gov/gene/LIPC HL deficiency db key 2015-12 2017-12-29
肝脂肪酶缺乏症 families have been reported in the scientific literature. down fats (lipids). People with this disorder have increased amounts of certain hyperlipidemia due to hepatic triglyceride lipase deficiency GTR C3151466
fats, known as triglycerides and cholesterol, in the blood. These individuals LIPC deficiency db key
also have increased amounts of molecules known as high-density lipoproteins MeSH D008052
(HDLs) and decreased amounts of molecules called low-density lipoproteins (LDL). db key
These molecules transport triglycerides and cholesterol throughout the body. In OMIM 614025
people with hepatic lipase deficiency, the LDL molecules are often abnormally db key
large. Orphanet 140905
html:p Normally, high levels of HDL (known as "good cholesterol") and low levels of LDL db key
(known as "bad cholesterol") are protective against an accumulation of fatty SNOMED CT 720940008
deposits on the artery walls (atherosclerosis) and heart disease. However, some
individuals with hepatic lipase deficiency, who have this imbalance of HDL and
LDL, develop atherosclerosis and heart disease in mid-adulthood, while others do
not. It is unknown whether people with hepatic lipase deficiency have a greater
risk of developing atherosclerosis or heart disease than individuals in the
general population. Similarly, it is unclear how increased blood triglycerides
and cholesterol levels affect the risk of atherosclerosis and heart disease in
people with hepatic lipase deficiency.
related-gene-list
Hepatic veno-occlusive disease with immunodeficiency https://ghr.nlm.nih.gov/condition/hepatic-veno-occlusive-disease-with-immunodefi VODI appears to be a rare disorder; approximately 20 affected families have html:p Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a ar autosomal recessive SP110 https://ghr.nlm.nih.gov/gene/SP110 familial veno-occlusive disease with immunodeficiency db key 2009-01 2017-12-29
ciency been reported worldwide. Most people diagnosed with the condition have been of hereditary disorder of the liver and immune system. Its signs and symptoms hepatic venoocclusive disease with immunodeficiency GTR C1856128
Lebanese ancestry. However, the disorder has also been identified in several appear after the first few months of life. veno-occlusive disease and immunodeficiency syndrome db key
individuals with other backgrounds in the United States and Italy. html:p Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins VODI GeneReviews vodi
in the liver, disrupting blood flow in this organ. This condition can lead to db key
enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic ICD-10-CM K76.5
fibrosis), and liver failure. db key
html:p Children with VODI are prone to recurrent infections caused by certain bacteria, MeSH D006504
viruses, and fungi. The organisms that cause infection in people with this db key
disorder are described as opportunistic because they ordinarily do not cause OMIM 235550
illness in healthy people. These infections are usually serious and may be db key
life-threatening. In most people with VODI, infections occur before hepatic Orphanet 79124
veno-occlusive disease becomes evident. db key
html:p Many people with VODI live only into childhood, although some affected SNOMED CT 65617004
individuals have lived to early adulthood.
related-gene-list
Hereditary angioedema, HAE https://ghr.nlm.nih.gov/condition/hereditary-angioedema Hereditary angioedema is estimated to affect 1 in 50,000 people. Type I is html:p Hereditary angioedema is a disorder characterized by recurrent episodes of ad autosomal dominant F12 https://ghr.nlm.nih.gov/gene/F12 C1 esterase inhibitor deficiency db key 2009-04 2017-12-29
遺傳性血管水腫 the most common, accounting for 85 percent of cases. Type II occurs in 15 severe swelling (angioedema). The most common areas of the body to develop related-gene gene-symbol ghr-page C1 inhibitor deficiency GTR C0019243
percent of cases, and type III is very rare. swelling are the limbs, face, intestinal tract, and airway. Minor trauma or SERPING1 https://ghr.nlm.nih.gov/gene/SERPING1 HAE db key
stress may trigger an attack, but swelling often occurs without a known trigger. HANE GTR C1857728
Episodes involving the intestinal tract cause severe abdominal pain, nausea, hereditary angioneurotic edema db key
and vomiting. Swelling in the airway can restrict breathing and lead to GTR C1862892
life-threatening obstruction of the airway. About one-third of people with this db key
condition develop a non-itchy rash called erythema marginatum during an attack. MeSH D054179
html:p Symptoms of hereditary angioedema typically begin in childhood and worsen during db key
puberty. On average, untreated individuals have an attack every 1 to 2 weeks, OMIM 106100
and most episodes last for about 3 to 4 days. The frequency and duration of db key
attacks vary greatly among people with hereditary angioedema, even among people OMIM 610618
in the same family. db key
html:p There are three types of hereditary angioedema, called types I, II, and III, Orphanet 91378
which can be distinguished by their underlying causes and levels of a protein db key
called C1 inhibitor in the blood. The different types have similar signs and SNOMED CT 82966003
symptoms. Type III was originally thought to occur only in women, but families
with affected males have been identified.
inheritance-pattern-list related-gene-list
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome https://ghr.nlm.nih.gov/condition/hereditary-angiopathy-with-nephropathy-aneurysms-and-muscle-cramps-syndrome HANAC syndrome is a rare condition, although the exact prevalence is html:p Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) ad autosomal dominant COL4A1 synonym db-key db key 2011-09 2017-12-29
unknown. At least six affected families have been described in the scientific syndrome is part of a group of conditions called the COL4A1-related disorders. GTR C2673195
literature. The conditions in this group have a range of signs and symptoms that involve synonym db-key db key
fragile blood vessels. HANAC syndrome is characterized by angiopathy, which synonym GeneReviews col4a1-dis
is a disorder of the blood vessels. In people with HANAC syndrome, angiopathy synonym db-key db key
affects several parts of the body. The blood vessels as well as thin sheet-like structures MeSH D002561
called basement membranes that separate and support cells are weakened and more susceptible to breakage. db-key db key
html:p People with HANAC syndrome develop kidney disease (nephropathy). Fragile or OMIM 611773
damaged blood vessels or basement membranes in the kidneys can lead to blood in db-key db key
the urine (hematuria). Cysts can also form in one or both kidneys, and the cysts Orphanet 73229
may grow larger over time. db-key db key
html:p Compared to other COL4A1-related disorders, the brain is only mildly affected in HANAC syndrome. SNOMED CT 702428000
People with this condition may have a bulge in one or multiple blood vessels in the brain
(intracranial aneurysms). These aneurysms have the potential to burst, causing bleeding
within the brain (hemorrhagic stroke). However, in people with HANAC syndrome, these
aneurysms typically do not burst. About half of people with this condition also have
leukoencephalopathy, which is a change in a type of brain tissue called white
matter that can be seen with magnetic resonance imaging (MRI).
html:p Muscle cramps experienced by most people with HANAC syndrome typically begin in
early childhood. Any muscle may be affected, and cramps usually last from a few
seconds to a few minutes, although in some cases they can last for several
hours. Muscle cramps can be spontaneous or triggered by exercise.
html:p Individuals with HANAC syndrome also experience a variety of eye problems. All
individuals with this condition have arteries that twist and turn abnormally
within the light-sensitive tissue at the back of the eyes (arterial retinal
tortuosity). This blood vessel abnormality can cause episodes of bleeding within
the eyes following any minor trauma to the eyes, leading to temporary vision
loss. Other eye problems associated with HANAC syndrome include a clouding of
the lens of the eye (cataract) and an abnormality called Axenfeld-Rieger
anomaly. Axenfeld-Rieger anomaly is associated with various other eye
abnormalities, including underdevelopment and eventual tearing of the colored
part of the eye (iris), and a pupil that is not in the center of the eye.
html:p Rarely, affected individuals will have a condition called Raynaud phenomenon in
which the blood vessels in the fingers and toes temporarily narrow, restricting
blood flow to the fingertips and the ends of the toes. As a result, the skin
around the affected area may turn white or blue for a brief period of time and
the area may tingle or throb. Raynaud phenomenon is typically triggered by
changes in temperature and usually causes no long term damage.
related-gene-list
Hereditary antithrombin deficiency https://ghr.nlm.nih.gov/condition/hereditary-antithrombin-deficiency Hereditary antithrombin deficiency is estimated to occur in about 1 in html:p Hereditary antithrombin deficiency is a disorder of blood clotting. People with ad autosomal dominant SERPINC1 https://ghr.nlm.nih.gov/gene/SERPINC1 Antithrombin III Deficiency db key 2013-02 2017-12-29
遺傳性抗凝血酶缺乏症 2,000 to 3,000 individuals. Of people who have experienced an abnormal blood this condition are at higher than average risk for developing abnormal blood Congenital Antithrombin III Deficiency GTR C0272375
(Blood) clot, about 1 in 20 to 200 have hereditary antithrombin deficiency. clots, particularly a type of clot that occurs in the deep veins of the legs. (Blood) db key
This type of clot is called a deep vein thrombosis (DVT). Affected individuals MeSH D020152
also have an increased risk of developing a pulmonary embolism (PE), which is a db key
clot that travels through the bloodstream and lodges in the lungs. In hereditary OMIM 107300
antithrombin deficiency, abnormal blood clots usually form only in veins, db key
although they may rarely occur in arteries. Orphanet 82
html:p About half of people with hereditary antithrombin deficiency will develop at db key
least one abnormal blood clot during their lifetime. These clots usually develop SNOMED CT 36351005
after adolescence. db key
html:p Other factors can increase the risk of abnormal blood clots in people with SNOMED CT 439699000
hereditary antithrombin deficiency. These factors include increasing age,
surgery, or immobility. The combination of hereditary antithrombin deficiency
and other inherited disorders of blood clotting can also influence risk. Women
with hereditary antithrombin deficiency are at increased risk of developing an
abnormal blood clot during pregnancy or soon after delivery. They also may have
an increased risk for pregnancy loss (miscarriage) or stillbirth.
related-gene-list
Hereditary cerebral amyloid angiopathy https://ghr.nlm.nih.gov/condition/hereditary-cerebral-amyloid-angiopathy The prevalence of hereditary cerebral amyloid angiopathy is unknown. The html:p Hereditary cerebral amyloid angiopathy is a condition that can cause a ad autosomal dominant APP https://ghr.nlm.nih.gov/gene/APP autosomal dominant cerebrovascular amyloidosis db key 2012-05 2017-12-29
遺傳性大腦類澱粉血管病變 Dutch type is the most common, with over 200 affected individuals reported in progressive loss of intellectual function (dementia), stroke, and other related-gene gene-symbol ghr-page CAA GTR C1527338
the scientific literature. neurological problems starting in mid-adulthood. Due to neurological decline, CST3 https://ghr.nlm.nih.gov/gene/CST3 cerebral amyloid angiopathy, familial db key
this condition is typically fatal in one's sixties, although there is variation related-gene gene-symbol ghr-page cerebral amyloid angiopathy, genetic GTR C1861735
depending on the severity of the signs and symptoms. Most affected individuals ITM2B https://ghr.nlm.nih.gov/gene/ITM2B HCHWA db key
die within a decade after signs and symptoms first appear, although some people GTR C1867773
with the disease have survived longer. db key
html:p There are many different types of hereditary cerebral amyloid angiopathy. The GTR C2751536
different types are distinguished by their genetic cause and the signs and db key
symptoms that occur. The various types of hereditary cerebral amyloid angiopathy ICD-10-CM I68.0
are named after the regions where they were first diagnosed. db key
html:p The Dutch type of hereditary cerebral amyloid angiopathy is the most common MeSH D028243
form. Stroke is frequently the first sign of the Dutch type and is fatal in db key
about one third of people who have this condition. Survivors often develop OMIM 105150
dementia and have recurrent strokes. About half of individuals with the Dutch db key
type who have one or more strokes will have recurrent seizures (epilepsy). OMIM 117300
html:p People with the Flemish and Italian types of hereditary cerebral amyloid db key
angiopathy are prone to recurrent strokes and dementia. Individuals with the OMIM 176500
Piedmont type may have one or more strokes and typically experience impaired db key
movements, numbness or tingling (paresthesias), confusion, or dementia. OMIM 605714
html:p The first sign of the Icelandic type of hereditary cerebral amyloid angiopathy db key
is typically a stroke followed by dementia. Strokes associated with the Orphanet 85458
Icelandic type usually occur earlier than the other types, with individuals db key
typically experiencing their first stroke in their twenties or thirties. SNOMED CT 230724001
html:p Strokes are rare in people with the Arctic type of hereditary cerebral amyloid db key
angiopathy, in which the first sign is usually memory loss that then progresses SNOMED CT 237867001
to severe dementia. Strokes are also uncommon in individuals with the Iowa type. db key
This type is characterized by memory loss, problems with vocabulary and the SNOMED CT 45639009
production of speech, personality changes, and involuntary muscle twitches db key
(myoclonus). SNOMED CT 56453003
html:p Two types of hereditary cerebral amyloid angiopathy, known as familial British db key
dementia and familial Danish dementia, are characterized by dementia and SNOMED CT 703220002
movement problems. Strokes are uncommon in these types. People with the Danish
type may also have clouding of the lens of the eyes (cataracts) or deafness.
related-gene-list
Hereditary diffuse gastric cancer https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer Gastric cancer is the fourth most common form of cancer worldwide, html:p Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly ad autosomal dominant CDH1 https://ghr.nlm.nih.gov/gene/CDH1 E-cadherin-associated hereditary gastric cancer db key 2016-08 2017-12-29
(Cancer) affecting 900,000 people per year. HDGC probably accounts for less than 1 increases the chance of developing a form of stomach (gastric) cancer. In this related-gene gene-symbol ghr-page familial diffuse gastric cancer GTR C1708349
percent of these cases. form, known as diffuse gastric cancer, there is no solid tumor. Instead CTNNA1 https://ghr.nlm.nih.gov/gene/CTNNA1 FDGC db key
cancerous (malignant) cells multiply underneath the stomach lining, making the HDGC GeneReviews hgc
lining thick and rigid. The invasive nature of this type of cancer makes it hereditary diffuse gastric adenocarcinoma db key
highly likely that these cancer cells will spread (metastasize) to other MeSH D013274
tissues, such as the liver or nearby bones. db key
html:p Symptoms of diffuse gastric cancer occur late in the disease and can include OMIM 137215
stomach pain, nausea, vomiting, difficulty swallowing (dysphagia), decreased db key
appetite, and weight loss. If the cancer metastasizes to other tissues, it may Orphanet 26106
lead to an enlarged liver, yellowing of the eyes and skin (jaundice), an db key
abnormal buildup of fluid in the abdominal cavity (ascites), firm lumps under SNOMED CT 716859000
the skin, or broken bones.
html:p In HDGC, gastric cancer usually occurs in a person's late thirties or early
forties, although it can develop anytime during adulthood. If diffuse gastric
cancer is detected early, the survival rate is high; however, because this type
of cancer is hidden underneath the stomach lining, it is usually not diagnosed
until the cancer has become widely invasive. At that stage of the disease, the
survival rate is approximately 20 percent.
html:p Some people with HDGC have an increased risk of developing other types of
cancer, such as a form of breast cancer in women that begins in the
milk-producing glands (lobular breast cancer); prostate cancer; and cancers of
the colon (large intestine) and rectum, which are collectively referred to as
colorectal cancer. Most people with HDGC have family members who have had one of
the types of cancer associated with HDGC. In some families, all the affected
members have diffuse gastric cancer. In other families, some affected members
have diffuse gastric cancer and others have another associated form of cancer,
such as lobular breast cancer. Frequently, HDGC-related cancers develop in
individuals before the age of 50.
Hereditary Epidermolysis Bullosa
遺傳性表皮分解性水皰症 (泡泡龍)
related-gene-list
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and https://ghr.nlm.nih.gov/condition/hereditary-fibrosing-poikiloderma-with-tendon- The prevalence of POIKTMP is unknown. At least 25 affected individuals have html:p Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and ad autosomal dominant FAM111B https://ghr.nlm.nih.gov/gene/FAM111B hereditary sclerosing poikiloderma with tendon and pulmonary involvement db key 2017-02 2017-12-29
pulmonary fibrosis contractures-myopathy-and-pulmonary-fibrosis been described in the medical literature. POIKTMP is thought to be pulmonary fibrosis (abbreviated POIKTMP), is a disorder that affects many parts HFP GTR C3810325
under-diagnosed because affected individuals may have only one or a few features of the body, particularly the skin, muscles, lungs, and pancreas. Signs and POIKTMP db key
of the disorder, and health care providers may not recognize these features as symptoms vary among affected individuals. GeneReviews hfpoik-tmp
part of POIKTMP. html:p People with POIKTMP have patchy changes in skin coloring and small clusters of db key
blood vessels just under the skin (telangiectases), a combination known as MeSH D012873
poikiloderma. These skin changes begin in infancy and occur primarily on the db key
face. They can also have red, scaly skin patches and mild swelling (lymphedema) OMIM 615704
of the arms and legs; thickened skin on the palms of the hands and soles of the db key
feet (palmoplantar keratoderma); and abnormal hardening (sclerosis) of tissues Orphanet 221043
in the fingers and toes. People with this disorder usually have sparse scalp db key
hair, and their eyelashes and eyebrows can also be sparse or absent. Affected SNOMED CT 402769003
individuals have a decreased ability to sweat (hypohidrosis), which impairs
their ability to tolerate heat.
html:p Reduced movement of joints (contractures) caused by shortening of the connective
tissues that attach muscles to bone (tendons) usually develops during childhood
in people with POIKTMP. These contractures often affect the calf, resulting in
turning in (valgus deformity) of the feet. Contractures can also affect the
elbows and wrists. In addition, people with POIKTMP usually develop muscle
weakness (myopathy) in the arms and legs, and medical imaging shows abnormal
fatty tissue in the muscles.
html:p Adults with POIKTMP can develop a condition called pulmonary fibrosis, in which
scar tissue forms in the lungs. Pulmonary fibrosis eventually causes difficulty
breathing and can be life-threatening within a few years after symptoms begin.
html:p In addition to the skin, muscle, and lung problems that give this condition its
name, people with POIKTMP can also have a shortage (deficiency) of enzymes
produced by the pancreas to aid in the digestion of fats. This deficiency can
lead to diarrhea and poor absorption of fats and fat-soluble vitamins. Liver
problems, short stature, and delayed puberty can also occur in affected
individuals. Intellectual development is not affected by this disorder.
related-gene-list
Hereditary folate malabsorption https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption The prevalence of hereditary folate malabsorption is unknown. Approximately html:p Hereditary folate malabsorption is a disorder that interferes with the body's ar autosomal recessive SLC46A1 https://ghr.nlm.nih.gov/gene/SLC46A1 congenital defect of folate absorption db key 2009-05 2017-12-29
15 affected families have been reported worldwide. Researchers believe that ability to absorb certain B vitamins (called folates) from food. Folates are Congenital folate malabsorption GTR C0342705
some infants with this disorder may not get diagnosed or treated, particularly important for many cell functions, including the production of DNA and its Folic acid transport defect db key
in areas where advanced medical care is not available. chemical cousin, RNA. GeneReviews folate-mal
html:p Infants with hereditary folate malabsorption are born with normal amounts of db key
folates in their body because they obtain these vitamins from their mother's MeSH D008286
blood before birth. They generally begin to show signs and symptoms of the db key
disorder within the first few months of life because their ability to absorb OMIM 229050
folates from food is impaired. db key
html:p Infants with hereditary folate malabsorption experience feeding difficulties, Orphanet 90045
diarrhea, and failure to gain weight and grow at the expected rate (failure to db key
thrive). Affected individuals usually develop a blood disorder called SNOMED CT 62578003
megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number
of red blood cells (anemia), and the remaining red blood cells are larger than
normal (megaloblastic). The symptoms of this blood disorder may include
decreased appetite, lack of energy, headaches, pale skin, and tingling or
numbness in the hands and feet. People with hereditary folate malabsorption may
also have a deficiency of white blood cells (leukopenia), leading to increased
susceptibility to infections. In addition, they may have a reduction in the
amount of platelets (thrombocytopenia), which can result in easy bruising and
abnormal bleeding.
html:p Some infants with hereditary folate malabsorption exhibit neurological problems
such as developmental delay and seizures. Over time, untreated individuals may
develop intellectual disability and difficulty coordinating movements (ataxia).
related-gene-list
Hereditary fructose intolerance https://ghr.nlm.nih.gov/condition/hereditary-fructose-intolerance The incidence of hereditary fructose intolerance is estimated to be 1 in html:p Hereditary fructose intolerance is a condition that affects a person's ability ar autosomal recessive ALDOB https://ghr.nlm.nih.gov/gene/ALDOB ALDOB deficiency db key 2011-06 2017-12-29
遺傳性果糖不耐症 20,000 to 30,000 individuals each year worldwide. to digest the sugar fructose. Fructose is a simple sugar found primarily in aldolase B deficiency GTR C0016751
fruits. Affected individuals develop signs and symptoms of the disorder in fructose-1-phosphate aldolase deficiency db key
infancy when fruits, juices, or other foods containing fructose are introduced fructose-1,6-biphosphate aldolase deficiency GeneReviews hfi
into the diet. After ingesting fructose, individuals with hereditary fructose fructose aldolase B deficiency db key
intolerance may experience nausea, bloating, abdominal pain, diarrhea, vomiting, fructose intolerance ICD-10-CM E74.12
and low blood sugar (hypoglycemia). Affected infants may fail to grow and gain fructosemia db key
weight at the expected rate (failure to thrive). MeSH D005633
html:p Repeated ingestion of fructose-containing foods can lead to liver and kidney db key
damage. The liver damage can result in a yellowing of the skin and whites of the OMIM 229600
eyes (jaundice), an enlarged liver (hepatomegaly), and chronic liver disease db key
(cirrhosis). Continued exposure to fructose may result in seizures, coma, and Orphanet 469
ultimately death from liver and kidney failure. Due to the severity of symptoms db key
experienced when fructose is ingested, most people with hereditary fructose SNOMED CT 20052008
intolerance develop a dislike for fruits, juices, and other foods containing
fructose.
html:p Hereditary fructose intolerance should not be confused with a condition called
fructose malabsorption. In people with fructose malabsorption, the cells of the
intestine cannot absorb fructose normally, leading to bloating, diarrhea or
constipation, flatulence, and stomach pain. Fructose malabsorption is thought to
affect approximately 40 percent of individuals in the Western hemisphere; its
cause is unknown.
related-gene-list
Hereditary hemochromatosis https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis Type 1 hemochromatosis is one of the most common genetic disorders in the html:p Hereditary hemochromatosis is a disorder that causes the body to absorb too much ad autosomal dominant HAMP https://ghr.nlm.nih.gov/gene/HAMP bronze diabetes db key 2015-05 2017-12-29
遺傳性血鐵沉著症 United States, affecting about 1 million people. It most often affects people iron from the diet. The excess iron is stored in the body's tissues and organs, code memo related-gene gene-symbol ghr-page bronzed cirrhosis GTR C0392514
(Blood) of Northern European descent. The other types of hemochromatosis are considered particularly the skin, heart, liver, pancreas, and joints. Because humans ar autosomal recessive HFE https://ghr.nlm.nih.gov/gene/HFE familial hemochromatosis db key
rare and have been studied in only a small number of families worldwide. cannot increase the excretion of iron, excess iron can overload and eventually related-gene gene-symbol ghr-page genetic hemochromatosis GTR C1853733
damage tissues and organs. For this reason, hereditary hemochromatosis is also HFE2 https://ghr.nlm.nih.gov/gene/HFE2 haemochromatosis db key
called an iron overload disorder. related-gene gene-symbol ghr-page HC GTR C1858664
html:p Early symptoms of hereditary hemochromatosis are nonspecific and may include PNPLA3 https://ghr.nlm.nih.gov/gene/PNPLA3 hemochromatosis db key
fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and related-gene gene-symbol ghr-page hereditary haemochromatosis GTR C1865614
symptoms can include arthritis, liver disease, diabetes, heart abnormalities, SLC40A1 https://ghr.nlm.nih.gov/gene/SLC40A1 HH db key
and skin discoloration. The appearance and progression of symptoms can be related-gene gene-symbol ghr-page HLAH GeneReviews hemochromatosis
affected by environmental and lifestyle factors such as the amount of iron in TFR2 https://ghr.nlm.nih.gov/gene/TFR2 iron storage disorder db key
the diet, alcohol use, and infections. pigmentary cirrhosis GeneReviews jh
html:p Hereditary hemochromatosis is classified by type depending on the age of onset primary hemochromatosis db key
and other factors such as genetic cause and mode of inheritance. Type 1, the Troisier-Hanot-Chauffard syndrome GeneReviews tfr2
most common form of the disorder, and type 4 (also called ferroportin disease) Von Recklenhausen-Applebaum disease db key
begin in adulthood. Men with type 1 or type 4 hemochromatosis typically develop ICD-10-CM E83.11
symptoms between the ages of 40 and 60, and women usually develop symptoms after db key
menopause. ICD-10-CM E83.110
html:p Type 2 hemochromatosis is a juvenile-onset disorder. Iron accumulation begins db key
early in life, and symptoms may appear in childhood. By age 20, decreased or ICD-10-CM E83.118
absent secretion of sex hormones is evident. Females usually begin menstruation db key
in a normal manner, but menses stop after a few years. Males may experience ICD-10-CM E83.119
delayed puberty or symptoms related to a shortage of sex hormones. If the db key
disorder is untreated, heart disease becomes evident by age 30. MeSH D006432
html:p The onset of type 3 hemochromatosis is usually intermediate between types 1 and db key
2. Symptoms of type 3 hemochromatosis generally begin before age 30. OMIM 235200
db key
OMIM 602390
db key
OMIM 604250
db key
OMIM 606069
db key
Orphanet 139491
db key
Orphanet 139498
db key
Orphanet 225123
db key
Orphanet 79230
db key
SNOMED CT 35400008
db key
SNOMED CT 399126000
db key
SNOMED CT 399144008
db key
SNOMED CT 399170009
db key
SNOMED CT 50855007
db key
related-gene-list SNOMED CT 6160004
Hereditary hemorrhagic telangiectasia https://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia The incidence of hereditary hemorrhagic telangiectasia is difficult to html:p Hereditary hemorrhagic telangiectasia is a disorder that results in the ad autosomal dominant ACVRL1 https://ghr.nlm.nih.gov/gene/ACVRL1 HHT db key 2016-07 2017-12-29
遺傳性出血性之血管擴張症 determine because the severity of symptoms can vary widely and some symptoms, development of multiple abnormalities in the blood vessels. related-gene gene-symbol ghr-page Osler-Weber-Rendu syndrome GTR C0039445
such as frequent nosebleeds, are common in the general population. In addition, html:p In the circulatory system, blood carrying oxygen from the lungs is normally ENG https://ghr.nlm.nih.gov/gene/ENG db key
arteriovenous malformations may be associated with other medical conditions. pumped by the heart into the arteries at high pressure. The pressure allows the related-gene gene-symbol ghr-page GTR C1832774
Hereditary hemorrhagic telangiectasia is widely distributed, occurring in many blood to make its way through the arteries to the smaller vessels (arterioles GDF2 https://ghr.nlm.nih.gov/gene/GDF2 db key
ethnic groups around the world. It is believed to affect between 1 in 5,000 and and capillaries) that supply oxygen to the body's tissues. By the time blood related-gene gene-symbol ghr-page GTR C1832942
1 in 10,000 people. reaches the capillaries, the pressure is much lower. The blood then proceeds SMAD4 https://ghr.nlm.nih.gov/gene/SMAD4 db key
from the capillaries into veins, through which it eventually returns to the GTR C1838163
heart. db key
html:p In hereditary hemorrhagic telangiectasia, some arterial vessels flow directly GTR C1857688
into veins rather than into the capillaries. These abnormalities are called db key
arteriovenous malformations. When they occur in vessels near the surface of the GTR CN034812
skin, where they are visible as red markings, they are known as telangiectases db key
(the singular is telangiectasia). GeneReviews hht
html:p Without the normal buffer of the capillaries, the blood moves from the arteries db key
at high pressure into the thinner walled, less elastic veins. The extra pressure ICD-10-CM I78.0
tends to strain and enlarge these blood vessels, and may result in compression db key
or irritation of adjacent tissues and frequent episodes of severe bleeding MeSH D013683
(hemorrhage). Nosebleeds are very common in people with hereditary hemorrhagic db key
telangiectasia, and more serious problems may arise from hemorrhages in the OMIM 175050
brain, liver, lungs, or other organs. db key
html:p There are several forms of hereditary hemorrhagic telangiectasia, distinguished OMIM 187300
mainly by their genetic cause but with some differences in patterns of signs and db key
symptoms. People with type 1 tend to develop symptoms earlier than those with OMIM 600376
type 2, and are more likely to have blood vessel malformations in the lungs and db key
brain. Type 2 and type 3 may be associated with a higher risk of liver OMIM 601101
involvement. Women are more likely than men to develop blood vessel db key
malformations in the lungs with type 1, and are also at higher risk of liver OMIM 610655
involvement with both type 1 and type 2. Individuals with any form of hereditary db key
hemorrhagic telangiectasia, however, can have any of these problems. Orphanet 774
html:p Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is a condition db key
that involves both arteriovenous malformations and a tendency to develop SNOMED CT 21877004
growths (polyps) in the gastrointestinal tract. Hereditary hemorrhagic
telangiectasia types 1, 2 and 3 do not appear to increase the likelihood of such
polyps.
related-gene-list
Hereditary hyperekplexia https://ghr.nlm.nih.gov/condition/hereditary-hyperekplexia The exact prevalence of hereditary hyperekplexia is unknown. This condition html:p Hereditary hyperekplexia is a condition in which affected infants have increased ad autosomal dominant ARHGEF9 https://ghr.nlm.nih.gov/gene/ARHGEF9 congenital stiff-man syndrome db key 2010-04 2017-12-29
先天性過度驚嚇症 has been identified in more than 70 families worldwide. muscle tone (hypertonia) and an exaggerated startle reaction to unexpected code memo related-gene gene-symbol ghr-page congenital stiff-person syndrome GTR C0234166
stimuli, especially loud noises. Following the startle reaction, infants ar autosomal recessive GLRA1 https://ghr.nlm.nih.gov/gene/GLRA1 familial hyperekplexia db key
experience a brief period in which they are very rigid and unable to move. related-gene gene-symbol ghr-page hyperekplexia GTR C1835614
During these rigid periods, some infants stop breathing, which, if prolonged, GLRB https://ghr.nlm.nih.gov/gene/GLRB startle syndrome db key
can be fatal. This condition may explain some cases of sudden infant death related-gene gene-symbol ghr-page STHE GTR C1845102
syndrome (SIDS), which is a major cause of unexplained death in babies younger GPHN https://ghr.nlm.nih.gov/gene/GPHN stiff-baby syndrome db key
than 1 year. Infants with hereditary hyperekplexia have hypertonia at all times, related-gene gene-symbol ghr-page GTR C3553288
except when they are sleeping. SLC6A5 https://ghr.nlm.nih.gov/gene/SLC6A5 db key
html:p Other signs and symptoms of hereditary hyperekplexia can include muscle twitches GTR C3553291
when falling asleep (hypnagogic myoclonus) and movements of the arms or legs db key
while asleep. Some infants, when tapped on the nose, extend their head forward GeneReviews hyperek
and have spasms of the limb and neck muscles. Rarely, infants with hereditary db key
hyperekplexia experience recurrent seizures (epilepsy). ICD-10-CM G25.82
html:p The signs and symptoms of hereditary hyperekplexia typically fade by age 1. db key
However, older individuals with hereditary hyperekplexia may still startle MeSH D016750
easily and have periods of rigidity, which can cause them to fall down. Some db key
individuals with this condition have a low tolerance for crowded places and loud OMIM 149400
noises. Some affected people have persistent limb movements during sleep. db key
Affected individuals who have epilepsy have the disorder throughout their lives. OMIM 300607
db key
OMIM 614618
db key
OMIM 614619
db key
Orphanet 3197
db key
related-gene-list SNOMED CT 19557000
Hereditary hypophosphatemic rickets https://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets X-linked hypophosphatemic rickets is the most common form of rickets that html:p Hereditary hypophosphatemic rickets is a disorder related to low levels of ad autosomal dominant CLCN5 https://ghr.nlm.nih.gov/gene/CLCN5 hypophosphatemia db key 2010-09 2017-12-29
runs in families. It affects about 1 in 20,000 newborns. Each of the other forms phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is code memo related-gene gene-symbol ghr-page VDRR GTR C0342642
of hereditary hypophosphatemic rickets has been identified in only a few essential for the normal formation of bones and teeth. ar autosomal recessive DMP1 https://ghr.nlm.nih.gov/gene/DMP1 vitamin D-resistant rickets db key
families. html:p In most cases, the signs and symptoms of hereditary hypophosphatemic rickets code memo related-gene gene-symbol ghr-page GTR C0342643
begin in early childhood. The features of the disorder vary widely, even among xd X-linked dominant ENPP1 https://ghr.nlm.nih.gov/gene/ENPP1 db key
affected members of the same family. Mildly affected individuals may have code memo related-gene gene-symbol ghr-page GTR C0342645
hypophosphatemia without other signs and symptoms. More severely affected xr X-linked recessive FGF23 https://ghr.nlm.nih.gov/gene/FGF23 db key
children experience slow growth and are shorter than their peers. They develop related-gene gene-symbol ghr-page GTR C0733682
bone abnormalities that can interfere with movement and cause bone pain. The PHEX https://ghr.nlm.nih.gov/gene/PHEX db key
most noticeable of these abnormalities are bowed legs or knock knees (a related-gene gene-symbol ghr-page GTR C2750078
condition in which the lower legs are positioned at an outward angle). These SLC34A3 https://ghr.nlm.nih.gov/gene/SLC34A3 db key
abnormalities become apparent with weight-bearing activities such as walking. If GeneReviews rickets-xlh
untreated, they tend to worsen with time. db key
html:p Other signs and symptoms of hereditary hypophosphatemic rickets can include ICD-10-CM E83.31
premature fusion of the skull bones (craniosynostosis) and dental abnormalities. db key
The disorder may also cause abnormal bone growth where ligaments and tendons MeSH D053098
attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by db key
a softening of the bones known as osteomalacia. OMIM 193100
html:p Researchers have described several forms of hereditary hypophosphatemic rickets, db key
which are distinguished by their pattern of inheritance and genetic cause. The OMIM 241520
most common form of the disorder is known as X-linked hypophosphatemic rickets db key
(XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, OMIM 241530
autosomal dominant, and autosomal recessive forms of the disorder are much db key
rarer. OMIM 300554
html:p Another rare type of the disorder is known as hereditary hypophosphatemic db key
rickets with hypercalciuria (HHRH). In addition to hypophosphatemia, this OMIM 307800
condition is characterized by the excretion of high levels of calcium in the db key
urine (hypercalciuria). OMIM 613312
db key
Orphanet 89937
db key
SNOMED CT 237889002
db key
SNOMED CT 237891005
db key
SNOMED CT 4996001
db key
SNOMED CT 82236004
db key
related-gene-list SNOMED CT 90505000
Hereditary leiomyomatosis and renal cell cancer https://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cance HLRCC has been reported in approximately 100 families worldwide. Its html:p Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which ad autosomal dominant FH https://ghr.nlm.nih.gov/gene/FH hereditary leiomyomatosis and renal cell carcinoma db key 2008-04 2017-12-29
(Cancer) r prevalence is unknown. affected individuals tend to develop benign tumors containing smooth muscle HLRCC GTR C1708350
tissue (leiomyomas) in the skin and, in females, the uterus. This condition also leiomyomatosis and renal cell cancer db key
increases the risk of kidney cancer. LRCC GeneReviews hlrcc
html:p In this disorder, growths on the skin (cutaneous leiomyomas) typically develop MCL db key
in the third decade of life. Most of these growths arise from the tiny muscles MCUL MeSH D009386
around the hair follicles that cause "goosebumps". They appear as bumps or multiple cutaneous and uterine leiomyomata db key
nodules on the trunk, arms, legs, and occasionally on the face. Cutaneous multiple cutaneous leiomyoma OMIM 150800
leiomyomas may be the same color as the surrounding skin, or they may be darker. Reed's syndrome db key
Some affected individuals have no cutaneous leiomyomas or only a few, but the Orphanet 151
growths tend to increase in size and number over time. Cutaneous leiomyomas are db key
often more sensitive than the surrounding skin to cold or light touch, and may SNOMED CT 404043000
be painful.
html:p Most women with HLRCC also develop uterine leiomyomas (fibroids). While uterine
fibroids are very common in the general population, women with HLRCC tend to
have numerous large fibroids that appear earlier than in the general population.
html:p Approximately 10 percent to 16 percent of people with HLRCC develop a type of
kidney cancer called renal cell cancer. The signs and symptoms of renal cell
cancer may include lower back pain, blood in the urine, or a mass in the kidney
that can be felt upon physical examination. Some people with renal cell cancer
have no symptoms until the disease is advanced. The average age at which people
with HLRCC are diagnosed with kidney cancer is in their forties.
html:p This disorder, especially if it appears in individuals or families without renal
cell cancer, is also sometimes called multiple cutaneous leiomyomatosis (MCL)
or multiple cutaneous and uterine leiomyomatosis (MCUL).
related-gene-list
Hereditary multiple osteochondromas https://ghr.nlm.nih.gov/condition/hereditary-multiple-osteochondromas The incidence of hereditary multiple osteochondromas is estimated to be 1 html:p Hereditary multiple osteochondromas is a condition in which people develop ad autosomal dominant EXT1 https://ghr.nlm.nih.gov/gene/EXT1 Bessel-Hagen disease db key 2016-03 2017-12-29
遺傳性多發性骨生疣 in 50,000 individuals. This condition occurs more frequently in some isolated multiple benign (noncancerous) bone tumors called osteochondromas. The number of related-gene gene-symbol ghr-page diaphyseal aclasis GTR C0015306
populations: the incidence is approximately 1 in 1,000 in the Chamorro osteochondromas and the bones on which they are located vary greatly among EXT2 https://ghr.nlm.nih.gov/gene/EXT2 exostoses, multiple hereditary db key
population of Guam and 1 in 77 in the Ojibway Indian population of Manitoba, affected individuals. The osteochondromas are not present at birth, but familial exostoses GTR C1851413
Canada. approximately 96 percent of affected people develop multiple osteochondromas by hereditary multiple exostoses db key
the time they are 12 years old. Osteochondromas typically form at the end of multiple cartilaginous exostoses GeneReviews ext
long bones and on flat bones such as the hip and shoulder blade. multiple congenital exostosis db key
html:p Multiple osteochondromas can disrupt bone growth and can cause growth multiple hereditary exostoses ICD-10-CM Q78.6
disturbances of the arms, hands, and legs, leading to short stature. Often these multiple osteochondromas db key
problems with bone growth do not affect the right and left limb equally, multiple osteochondromatosis MeSH D005097
resulting in uneven limb lengths (limb length discrepancy). Bowing of the db key
forearm or ankle and abnormal development of the hip joints (hip dysplasia) OMIM 133700
caused by osteochondromas can lead to difficulty walking and general discomfort. db key
Multiple osteochondromas may also result in pain, limited range of joint OMIM 133701
movement, and pressure on nerves, blood vessels, the spinal cord, and tissues db key
surrounding the osteochondromas. Orphanet 321
html:p Osteochondromas are typically benign; however, in some instances these tumors db key
become malignant (cancerous). Researchers estimate that people with hereditary SNOMED CT 254044004
multiple osteochondromas have a 1 in 20 to 1 in 200 lifetime risk of developing
cancerous osteochondromas (called sarcomas).
related-gene-list
Hereditary myopathy with early respiratory failure https://ghr.nlm.nih.gov/condition/hereditary-myopathy-with-early-respiratory-fai HMERF is a rare condition. It has been reported in several families of html:p Hereditary myopathy with early respiratory failure (HMERF) is an inherited ad autosomal dominant TTN https://ghr.nlm.nih.gov/gene/TTN Edstrom myopathy db key 2012-02 2017-12-29
lure Swedish and French descent, and in at least one individual from Italy. muscle disease that predominantly affects muscles close to the center of the HMERF GTR C1863599
body (proximal muscles) and muscles that are needed for breathing. MPRM db key
html:p The major signs and symptoms of HMERF usually appear in adulthood, on average myopathy, proximal, with early respiratory muscle involvement GeneReviews hmerf
around age 35. Among the earliest muscles affected in HMERF are the neck db key
flexors, which are muscles at the front of the neck that help hold the head up. MeSH D009135
Other proximal muscles that become weak in people with HMERF include those of db key
the hips, thighs, and upper arms. Some affected individuals have also reported MeSH D012131
weakness in muscles of the lower leg and foot called the dorsal foot extensors. db key
html:p HMERF also causes severe weakness in muscles of the chest that are involved in OMIM 603689
breathing, particularly the diaphragm. This weakness leads to breathing problems db key
and life-threatening respiratory failure. Orphanet 178464
db key
related-gene-list SNOMED CT 702373006
Hereditary neuralgic amyotrophy https://ghr.nlm.nih.gov/condition/hereditary-neuralgic-amyotrophy Hereditary neuralgic amyotrophy is a rare disorder, but its specific html:p Hereditary neuralgic amyotrophy is a disorder characterized by episodes of ad autosomal dominant SEPT9 https://ghr.nlm.nih.gov/gene/SEPT9 Amyotrophic Neuralgia db key 2009-09 2017-12-29
遺傳性神經性肌萎縮 prevalence is unknown. Approximately 200 families affected by the disorder have severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Brachial Neuralgia GTR C1834304
been identified worldwide. Neuralgic pain is felt along the path of one or more nerves and often has no Brachial Neuritis db key
obvious physical cause. The network of nerves involved in hereditary neuralgic Brachial Plexus Neuritis GeneReviews hna
amyotrophy, called the brachial plexus, controls movement and sensation in the familial brachial plexus neuritis db key
shoulders and arms. hereditary brachial plexus neuropathy ICD-10-CM G54.5
html:p People with hereditary neuralgic amyotrophy usually begin experiencing attacks heredofamilial neuritis with brachial plexus predilection db key
in their twenties, but episodes have occurred as early as the age of 1 year in HNA MeSH D020968
some individuals. The attacks may be spontaneous or triggered by stress such as NAPB db key
strenuous exercise, childbirth, surgery, exposure to cold, infections, Neuralgic Amyotrophy OMIM 162100
immunizations, or emotional disturbance. While the frequency of the episodes neuritis with brachial predilection db key
tends to decrease with age, affected individuals are often left with residual Shoulder Girdle Neuropathy Orphanet 2901
problems, such as chronic pain and impaired movement, that accumulate over time. db key
html:p Typically an attack begins with severe pain on one or both sides of the body; SNOMED CT 26609002
right-sided involvement is most common. The pain may be difficult to control
with medication and usually lasts about a month. Within a period of time ranging
from a few hours to a couple of weeks, the muscles in the affected area begin
to weaken and waste away (atrophy), and movement becomes difficult. Muscle
wasting may cause changes in posture or in the appearance of the shoulder, back,
and arm. In particular, weak shoulder muscles tend to make the shoulder blades
(scapulae) "stick out" from the back, a common sign known as scapular winging.
Additional features of hereditary neuralgic amyotrophy may include decreased
sensation (hypoesthesia) and abnormal sensations in the skin such as numbness or
tingling (paresthesias). Areas other than the shoulder and arm may also be
involved.
html:p In a few affected families, individuals with hereditary neuralgic amyotrophy
also have unusual physical characteristics including short stature, excess skin
folds on the neck and arms, an opening in the roof of the mouth (cleft palate),
a split in the soft flap of tissue that hangs from the back of the mouth (bifid
uvula), and partially webbed or fused fingers or toes (partial syndactyly). They
may also have distinctive facial features including eyes set close together
(ocular hypotelorism), a narrow opening of the eyelids (short palpebral
fissures) with a skin fold covering the inner corner of the eye (epicanthal
fold), a long nasal bridge, a narrow mouth, and differences between one side of
the face and the other (facial asymmetry).
related-gene-list
Hereditary neuropathy with liability to pressure palsies, HNPP https://ghr.nlm.nih.gov/condition/hereditary-neuropathy-with-liability-to-pressu Hereditary neuropathy with liability to pressure palsies is estimated to html:p Hereditary neuropathy with liability to pressure palsies is a disorder that ad autosomal dominant PMP22 https://ghr.nlm.nih.gov/gene/PMP22 compression neuropathy db key 2016-07 2017-12-29
遺傳性壓力敏感性周圍神經病變 re-palsies occur in 2 to 5 per 100,000 individuals. affects peripheral nerves. These nerves connect the brain and spinal cord to entrapment neuropathy GTR C0393814
muscles and sensory cells that detect touch, pain, and temperature. In people familial pressure sensitive neuropathy db key
with this disorder, the peripheral nerves are unusually sensitive to pressure, hereditary motor and sensory neuropathy GeneReviews hnpp
such as the pressure that occurs when carrying heavy grocery bags, leaning on an hereditary pressure sensitive neuropathy db key
elbow, or sitting without changing position, particularly with crossed legs. HNPP MeSH D006211
These activities would not normally cause sensation problems in people without inherited tendency to pressure palsies db key
the disorder. tomaculous neuropathy MeSH D015417
html:p Hereditary neuropathy with liability to pressure palsies is characterized by db key
recurrent episodes of numbness, tingling, and loss of muscle function (palsy) in OMIM 162500
the region associated with the affected nerve, usually an arm, hand, leg, or db key
foot. An episode can last from several minutes to several months, but recovery Orphanet 640
is usually complete. Repeated incidents, however, can cause permanent muscle db key
weakness or loss of sensation. This disorder is also associated with pain in the SNOMED CT 230558006
limbs, especially the hands.
html:p A pressure palsy episode results from pressure on a single nerve, and any
peripheral nerve can be affected. Although episodes often recur, they can affect
different nerves. The most common problem sites involve nerves in the wrists,
elbows, and knees. The fingers, shoulders, hands, feet, and scalp can also be
affected. Many people with this disorder experience carpal tunnel syndrome,
which occurs when a nerve in the wrist (the median nerve) is involved. Carpal
tunnel syndrome is characterized by numbness, tingling, and weakness in the hand
and fingers. An episode in the hand may affect fine motor activities such as
writing, opening jars, and fastening buttons. An episode of nerve compression in
the knee can lead to a condition called foot drop, which makes walking,
climbing stairs, or driving difficult or impossible.
html:p The symptoms of hereditary neuropathy with liability to pressure palsies usually
begin during adolescence or early adulthood but may develop anytime from
childhood to late adulthood. Symptoms vary in severity; many people never
realize they have the disorder, while some people experience prolonged
disability. Hereditary neuropathy with liability to pressure palsies does not
affect life expectancy.
Hereditary nonpolyposis colorectal cancer,HNPCC
遺傳性結腸直腸癌
related-gene-list
Hereditary pancreatitis https://ghr.nlm.nih.gov/condition/hereditary-pancreatitis Hereditary pancreatitis is thought to be a rare condition. In Europe, its html:p Hereditary pancreatitis is a genetic condition characterized by recurrent ad autosomal dominant CFTR https://ghr.nlm.nih.gov/gene/CFTR autosomal dominant hereditary pancreatitis db key 2012-10 2017-12-29
prevalence is estimated to be 3 to 6 per million individuals. episodes of inflammation of the pancreas (pancreatitis). The pancreas produces related-gene gene-symbol ghr-page familial pancreatitis GTR C0238339
enzymes that help digest food, and it also produces insulin, a hormone that CTRC https://ghr.nlm.nih.gov/gene/CTRC hereditary chronic pancreatitis db key
controls blood sugar levels in the body. Episodes of pancreatitis can lead to related-gene gene-symbol ghr-page HP GeneReviews pancreatitis-ov
permanent tissue damage and loss of pancreatic function. PRSS1 https://ghr.nlm.nih.gov/gene/PRSS1 db key
html:p Signs and symptoms of this condition usually begin in late childhood with an related-gene gene-symbol ghr-page GeneReviews prss1-hp
episode of acute pancreatitis. A sudden (acute) attack can cause abdominal pain, SPINK1 https://ghr.nlm.nih.gov/gene/SPINK1 db key
fever, nausea, or vomiting. An episode typically lasts from one to three days, ICD-10-CM K86.1
although some people may experience severe episodes that last longer. Hereditary db key
pancreatitis progresses to recurrent acute pancreatitis with multiple episodes MeSH D050500
of acute pancreatitis that recur over a period of at least a year; the number of db key
episodes a person experiences varies. Recurrent acute pancreatitis leads to OMIM 167800
chronic pancreatitis, which occurs when the pancreas is persistently inflamed. db key
Chronic pancreatitis usually develops by early adulthood in affected Orphanet 676
individuals. Signs and symptoms of chronic pancreatitis include occasional or db key
frequent abdominal pain of varying severity, flatulence, and bloating. Many SNOMED CT 235949005
individuals with hereditary pancreatitis also develop abnormal calcium deposits db key
in the pancreas (pancreatic calcifications) by early adulthood. SNOMED CT 235956004
html:p Years of inflammation damage the pancreas, causing the formation of scar tissue db key
(fibrosis) in place of functioning pancreatic tissue. Pancreatic fibrosis leads SNOMED CT 68072000
to the loss of pancreatic function in many affected individuals. This loss of
function can impair the production of digestive enzymes and disrupt normal
digestion, leading to fatty stool (steatorrhea), weight loss, and protein and
vitamin deficiencies. Because of a decrease in insulin production due to a loss
of pancreatic function, about a quarter of individuals with hereditary
pancreatitis will develop type 1 diabetes mellitus by mid-adulthood; the risk of
developing diabetes increases with age.
html:p Chronic pancreatic inflammation and damage to the pancreas increase the risk of
developing pancreatic cancer. The risk is particularly high in people with
hereditary pancreatitis who also smoke, use alcohol, have type 1 diabetes
mellitus, or have a family history of cancer. In affected individuals who
develop pancreatic cancer, it is typically diagnosed in mid-adulthood.
html:p Complications from pancreatic cancer and type 1 diabetes mellitus are the most
common causes of death in individuals with hereditary pancreatitis, although
individuals with this condition are thought to have a normal life expectancy.
related-gene-list
Hereditary paraganglioma-pheochromocytoma https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma Hereditary paraganglioma-pheochromocytoma occurs in approximately 1 in 1 html:p Hereditary paraganglioma-pheochromocytoma is an inherited condition ad autosomal dominant SDHA https://ghr.nlm.nih.gov/gene/SDHA familial paraganglioma-pheochromocytoma syndromes db key 2016-11 2017-12-29
遺傳性副神經節嗜鉻細胞瘤 million people. characterized by the growth of noncancerous (benign) tumors in structures called related-gene gene-symbol ghr-page familial paraganglioma syndrome GTR C1854336
paraganglia. Paraganglia are groups of cells that are found near nerve cell SDHAF2 https://ghr.nlm.nih.gov/gene/SDHAF2 FPGL db key
bunches called ganglia. A tumor involving the paraganglia is known as a related-gene gene-symbol ghr-page FPGL/PHEO GTR C1861848
paraganglioma. A type of paraganglioma known as a pheochromocytoma develops in SDHB https://ghr.nlm.nih.gov/gene/SDHB hereditary paraganglioma-pheochromocytoma syndromes db key
the adrenal glands, which are located on top of each kidney and produce hormones related-gene gene-symbol ghr-page hereditary pheochromocytoma-paraganglioma GTR C1866552
in response to stress. Other types of paraganglioma are usually found in the SDHC https://ghr.nlm.nih.gov/gene/SDHC paragangliomas 1 db key
head, neck, or trunk. People with hereditary paraganglioma-pheochromocytoma related-gene gene-symbol ghr-page paragangliomas 2 GTR C1868633
develop one or more paragangliomas, which may include pheochromocytomas. SDHD https://ghr.nlm.nih.gov/gene/SDHD paragangliomas 3 db key
html:p Pheochromocytomas and some other paragangliomas are associated with ganglia of paragangliomas 4 GTR C3279992
the sympathetic nervous system. The sympathetic nervous system controls the db key
"fight-or-flight" response, a series of changes in the body due to hormones GeneReviews paragangliomas
released in response to stress. Sympathetic paragangliomas found outside the db key
adrenal glands, usually in the abdomen, are called extra-adrenal paragangliomas. MeSH D010235
Most sympathetic paragangliomas, including pheochromocytomas, produce hormones db key
called catecholamines, such as epinephrine (adrenaline) or norepinephrine. These OMIM 115310
excess catecholamines can cause signs and symptoms such as high blood pressure db key
(hypertension), episodes of rapid heartbeat (palpitations), headaches, or OMIM 168000
sweating. db key
html:p Most paragangliomas are associated with ganglia of the parasympathetic nervous OMIM 601650
system, which controls involuntary body functions such as digestion and saliva db key
formation. Parasympathetic paragangliomas, typically found in the head and neck, OMIM 605373
usually do not produce hormones. However, large tumors may cause signs and db key
symptoms such as coughing, hearing loss in one ear, or difficulty swallowing. OMIM 614165
html:p Although most paragangliomas and pheochromocytomas are noncancerous, some can db key
become cancerous (malignant) and spread to other parts of the body Orphanet 29072
(metastasize). Extra-adrenal paragangliomas become malignant more often than db key
other types of paraganglioma or pheochromocytoma. SNOMED CT 716857003
html:p Researchers have identified several types of hereditary
paraganglioma-pheochromocytoma. Each type is distinguished by its genetic cause.
People with types 1, 2, and 3 typically develop paragangliomas in the head or
neck region. People with type 4 usually develop extra-adrenal paragangliomas in
the abdomen and are at higher risk for malignant tumors that metastasize. The
other types are very rare. Hereditary paraganglioma-pheochromocytoma is
typically diagnosed in a person's 30s.
html:p Paragangliomas and pheochromocytomas can occur in individuals with other
inherited disorders, such as von-Hippel Lindau syndrome, Carney-Stratakis
syndrome, and certain types of multiple endocrine neoplasia. These other
disorders feature additional tumor types and have different genetic causes. Some
paragangliomas and pheochromocytomas occur in people with no history of the
tumors in their families and appear not to be inherited. These cases are
designated as sporadic.
related-gene-list
Hereditary sensory and autonomic neuropathy type IE https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-ty HSAN IE is a rare disorder; its prevalence is unknown. Small numbers of html:p Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that ad autosomal dominant DNMT1 https://ghr.nlm.nih.gov/gene/DNMT1 DNMT1-complex disorder db key 2017-06 2017-12-29
pe-ie affected families have been identified in populations around the world. affects the nervous system. It is characterized by three main features: hearing DNMT1-related dementia, deafness, and sensory neuropathy GTR C3279885
loss, a decline of intellectual function (dementia), and a worsening loss of hereditary sensory and autonomic neuropathy type 1 with dementia and hearing db key
sensation in the feet and legs (peripheral neuropathy). loss GeneReviews dnmt1-ddsn
html:p People with HSAN IE develop hearing loss that is caused by abnormalities in the hereditary sensory neuropathy type IE db key
inner ear (sensorineural hearing loss). The hearing loss, which affects both HSAN1E MeSH D009477
ears, gets worse over time and usually progresses to moderate or severe deafness HSN IE db key
between the ages of 20 and 35. HSNIE OMIM 614116
html:p Affected individuals experience dementia typically beginning in their thirties. db key
In some people with HSAN IE, changes in personality, such as irritability, Orphanet 36386
apathy, or lack of impulse control, become apparent before problems with db key
thinking skills. SNOMED CT 397734008
html:p Peripheral neuropathy is caused by impaired function of nerve cells called
sensory neurons, which transmit information about sensations such as pain,
temperature, and touch. Loss of sensation in the feet and legs, which usually
begins in adolescence or early adulthood in people with HSAN IE and worsens over
time, can cause difficulty walking. Affected individuals may not be aware of
injuries to their feet, which can lead to complications such as open sores and
infections. If these complications are severe, amputation of the affected areas
may be required.
html:p Some people with HSAN IE also experience recurrent seizures (epilepsy) and sleep
problems. The severity of the signs and symptoms of HSAN IE and their age of
onset are variable, even among affected members of the same family.
related-gene-list
Hereditary sensory and autonomic neuropathy type II https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-ty HSAN2 is a rare disease; however, the prevalence is unknown. html:p Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that ar autosomal recessive KIF1A https://ghr.nlm.nih.gov/gene/KIF1A congenital sensory neuropathy db key 2017-04 2017-12-29
pe-ii primarily affects the sensory nerve cells (sensory neurons), which transmit related-gene gene-symbol ghr-page hereditary sensory and autonomic neuropathy type 2 GTR C0020072
information about sensations such as pain, temperature, and touch to the brain. RETREG1 https://ghr.nlm.nih.gov/gene/RETREG1 HSAN type II db key
These sensations are impaired in people with HSAN2. In some affected people, the related-gene gene-symbol ghr-page HSAN2 GTR C2751092
condition may also cause mild abnormalities of the autonomic neurons, which SCN9A https://ghr.nlm.nih.gov/gene/SCN9A HSAN2A db key
control involuntary body functions such as heart rate, digestion, and breathing. related-gene gene-symbol ghr-page HSAN2B GTR C2752089
The sensory and autonomic neurons are part of the body's peripheral nervous WNK1 https://ghr.nlm.nih.gov/gene/WNK1 HSAN2C db key
system, which comprises the nerves outside the brain and spinal cord. HSAN2 is HSAN2D GeneReviews hsan2
considered a form of peripheral neuropathy. HSANII db key
html:p The signs and symptoms of HSAN2 typically begin in infancy or early childhood. HSN type II MeSH D009477
The first sign of the condition is usually numbness in the hands and feet. Soon Morvan disease db key
after, affected individuals lose the ability to feel pain or sense hot and cold. OMIM 201300
In people with HSAN2, unnoticed injuries often lead to open sores (ulcers) on db key
the hands and feet. Because affected individuals cannot feel the pain of these OMIM 613115
sores, they may not seek treatment right away. Without treatment, the ulcers can db key
become infected and may require amputation of the affected area. People with Orphanet 970
HSAN2 often injure themselves unintentionally, typically by biting the tongue, db key
lips, or fingers. These injuries may lead to loss of the affected areas, such as SNOMED CT 398148000
the tip of the tongue. Affected individuals often have injuries and fractures
in their hands, feet, limbs, and joints that go untreated because of the
inability to feel pain. Repeated injury can lead to a condition called Charcot
joints, in which the bones and tissue surrounding joints are damaged.
html:p The effects of HSAN2 on the autonomic nervous system are more variable. Some
infants with HSAN2 have digestive problems such as the backflow of stomach acids
into the esophagus (gastroesophageal reflux) or slow eye-blink or gag reflexes.
Affected individuals may also have weak deep-tendon reflexes, such as the
reflex being tested when a doctor taps the knee with a hammer.
html:p Some people with HSAN2 lose a type of taste bud on the tip of the tongue called
lingual fungiform papillae and have a diminished sense of taste.
related-gene-list
Hereditary sensory and autonomic neuropathy type V https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-ty HSAN5 is very rare. Only a few people with the condition have been html:p Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that ar autosomal recessive NGF https://ghr.nlm.nih.gov/gene/NGF congenital insensitivity to pain db key 2011-07 2017-12-29
pe-v identified. primarily affects the sensory nerve cells (sensory neurons), which transmit congenital sensory neuropathy with selective loss of small myelinated fibers GTR C0020075
information about sensations such as pain, temperature, and touch. These hereditary sensory and autonomic neuropathy, type 5 db key
sensations are impaired in people with HSAN5. HSAN type V MeSH D009477
html:p The signs and symptoms of HSAN5 appear early, usually at birth or during HSAN V db key
infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep HSAN5 OMIM 608654
pain perception, the feeling of pain from injuries to bones, ligaments, or db key
muscles, is especially affected in people with HSAN5. Because of the inability Orphanet 64752
to feel deep pain, affected individuals suffer repeated severe injuries such as db key
bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to SNOMED CT 128206006
a condition called Charcot joints, in which the bones and tissue surrounding
joints are destroyed.
related-gene-list
Hereditary sensory neuropathy type IA https://ghr.nlm.nih.gov/condition/hereditary-sensory-neuropathy-type-ia Hereditary sensory neuropathy type IA is a rare condition; its prevalence html:p Hereditary sensory neuropathy type IA is a condition characterized by nerve ad autosomal dominant SPTLC1 https://ghr.nlm.nih.gov/gene/SPTLC1 autosomal dominant hereditary sensory radicular neuropathy, type 1A db key 2015-03 2017-12-29
is estimated to be 1 to 2 per 100,000 individuals. abnormalities in the legs and feet (peripheral neuropathy). Many people with hereditary sensory and autonomic neuropathy, type IA GTR C0020071
this condition experience prickling or tingling sensations (paresthesias), HSAN IA db key
numbness, and a reduced ability to feel pain and sense hot and cold. Some HSAN1A GeneReviews hsn1
affected individuals do not lose sensation, but instead feel shooting pains in HSN IA db key
their legs and feet. As the disorder progresses, the sensory abnormalities can HSN1A ICD-10-CM G60.8
affect the hands, arms, shoulders, joints, and abdomen. Affected individuals may db key
also experience muscle wasting and weakness as they get older. Weakness in the MeSH D009477
ankle muscles can make walking difficult. As the condition progresses, some db key
people with hereditary sensory neuropathy type IA require wheelchair assistance. OMIM 162400
html:p Individuals with hereditary sensory neuropathy type IA typically get open sores db key
(ulcers) on their feet or hands or infections of the soft tissue of the Orphanet 36386
fingertips (whitlows) that are slow to heal. Because affected individuals cannot db key
feel the pain of these sores, they may not seek immediate treatment. Without SNOMED CT 397734008
treatment, the ulcers can become infected and may require amputation of the
surrounding area or limb.
html:p Some people with hereditary sensory neuropathy type IA develop hearing loss
caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing
loss typically develops in middle to late adulthood.
html:p The signs and symptoms of hereditary sensory neuropathy type IA can begin
anytime between adolescence and late adulthood. While the features of this
condition tend to worsen over time, affected individuals have a normal life
expectancy if signs and symptoms are properly treated.
related-gene-list
Hereditary spherocytosis https://ghr.nlm.nih.gov/condition/hereditary-spherocytosis Hereditary spherocytosis occurs in 1 in 2,000 individuals of Northern html:p Hereditary spherocytosis is a condition that affects red blood cells. People ad autosomal dominant ANK1 https://ghr.nlm.nih.gov/gene/ANK1 congenital spherocytic hemolytic anemia db key 2013-09 2017-12-29
遺傳性球形紅血球增多症 European ancestry. This condition is the most common cause of inherited anemia with this condition typically experience a shortage of red blood cells (anemia), code memo related-gene gene-symbol ghr-page congenital spherocytosis GTR C0037889
in that population. The prevalence of hereditary spherocytosis in people of yellowing of the eyes and skin (jaundice), and an enlarged spleen ar autosomal recessive EPB42 https://ghr.nlm.nih.gov/gene/EPB42 HS db key
other ethnic backgrounds is unknown, but it is much less common. (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, related-gene gene-symbol ghr-page spherocytic anemia GTR C2674219
although it improves after the first year of life. Splenomegaly can occur SLC4A1 https://ghr.nlm.nih.gov/gene/SLC4A1 spherocytosis, type 1 db key
anytime from early childhood to adulthood. About half of affected individuals related-gene gene-symbol ghr-page GTR C2675192
develop hard deposits in the gallbladder called gallstones, which typically SPTA1 https://ghr.nlm.nih.gov/gene/SPTA1 db key
occur from late childhood to mid-adulthood. related-gene gene-symbol ghr-page GTR C2675212
html:p There are four forms of hereditary spherocytosis, which are distinguished by the SPTB https://ghr.nlm.nih.gov/gene/SPTB db key
severity of signs and symptoms. They are known as the mild form, the moderate GTR C2678338
form, the moderate/severe form, and the severe form. It is estimated that 20 to db key
30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 GTR CN068423
percent have the moderate form, 10 percent have the moderate/severe form, and 3 db key
to 5 percent have the severe form. GeneReviews epb42-spherocytosis
html:p People with the mild form may have very mild anemia or sometimes have no db key
symptoms. People with the moderate form typically have anemia, jaundice, and ICD-10-CM D58.0
splenomegaly. Many also develop gallstones. The signs and symptoms of moderate db key
hereditary spherocytosis usually appear in childhood. Individuals with the MeSH D013103
moderate/severe form have all the features of the moderate form but also have db key
severe anemia. Those with the severe form have life-threatening anemia that OMIM 182870
requires frequent blood transfusions to replenish their red blood cell supply. db key
They also have severe splenomegaly, jaundice, and a high risk for developing OMIM 182900
gallstones. Some individuals with the severe form have short stature, delayed db key
sexual development, and skeletal abnormalities. OMIM 270970
db key
OMIM 612653
db key
OMIM 612690
db key
Orphanet 822
Hereditary thrombophilia, Protein C deficiency
先天性血栓形成體質
db key
related-gene-list SNOMED CT 55995005
Hereditary xanthinuria https://ghr.nlm.nih.gov/condition/hereditary-xanthinuria The combined incidence of hereditary xanthinuria types I and II is html:p Hereditary xanthinuria is a condition that most often affects the kidneys. It is ar autosomal recessive MOCOS https://ghr.nlm.nih.gov/gene/MOCOS combined deficiency of xanthine dehydrogenase and aldehyde oxidase db key 2015-12 2017-12-29
遺傳性黃嘌呤尿症 estimated to be about 1 in 69,000 people worldwide. However, researchers suspect characterized by high levels of a compound called xanthine and very low levels related-gene gene-symbol ghr-page xanthine dehydrogenase deficiency GTR C0268118
that the true incidence may be higher because some affected individuals have no of another compound called uric acid in the blood and urine. The excess xanthine XDH https://ghr.nlm.nih.gov/gene/XDH xanthine oxidase deficiency db key
symptoms and are never diagnosed with the condition. Hereditary xanthinuria can accumulate in the kidneys and other tissues. In the kidneys, xanthine forms xanthinuria GTR C1863688
appears to be more common in people of Mediterranean or Middle Eastern ancestry. tiny crystals that occasionally build up to create kidney stones. These stones XDH deficiency db key
About 150 cases of this condition have been reported in the medical literature. can impair kidney function and ultimately cause kidney failure. Related signs MeSH D008661
and symptoms can include abdominal pain, recurrent urinary tract infections, and db key
blood in the urine (hematuria). Less commonly, xanthine crystals build up in OMIM 278300
the muscles, causing pain and cramping. In some people with hereditary db key
xanthinuria, the condition does not cause any health problems. OMIM 603592
html:p Researchers have described two major forms of hereditary xanthinuria, types I db key
and II. The types are distinguished by the enzymes involved; they have the same Orphanet 3467
signs and symptoms. db key
Orphanet 93601
db key
Orphanet 93602
db key
SNOMED CT 124147007
db key
SNOMED CT 29692004
db key
SNOMED CT 54627004
db key
related-gene-list SNOMED CT 72682008
Hermansky-Pudlak syndrome https://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome Hermansky-Pudlak syndrome is a rare disorder in most populations and is html:p Hermansky-Pudlak syndrome is a disorder characterized by a condition called ar autosomal recessive AP3B1 https://ghr.nlm.nih.gov/gene/AP3B1 HPS db key 2014-05 2017-12-29
estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is oculocutaneous albinism, which causes abnormally light coloring (pigmentation) related-gene gene-symbol ghr-page GTR C0079504
more common in Puerto Rico, particularly in the northwestern part of the island of the skin, hair, and eyes. Affected individuals typically have fair skin and BLOC1S3 https://ghr.nlm.nih.gov/gene/BLOC1S3 db key
where about 1 in 1,800 people are affected. Type 3 is common in people from white or light-colored hair. People with this disorder have a higher than related-gene gene-symbol ghr-page GTR C2931875
central Puerto Rico. Groups of affected individuals have been identified in many average risk of skin damage and skin cancers caused by long-term sun exposure. BLOC1S6 https://ghr.nlm.nih.gov/gene/BLOC1S6 db key
other regions, including India, Japan, the United Kingdom, and Western Europe. Oculocutaneous albinism reduces pigmentation of the colored part of the eye related-gene gene-symbol ghr-page GeneReviews hps
(iris) and the light-sensitive tissue at the back of the eye (retina). Reduced DTNBP1 https://ghr.nlm.nih.gov/gene/DTNBP1 db key
vision, rapid and involuntary eye movements (nystagmus), and increased related-gene gene-symbol ghr-page ICD-10-CM E70.331
sensitivity to light (photophobia) are also common in oculocutaneous albinism. HPS1 https://ghr.nlm.nih.gov/gene/HPS1 db key
In Hermansky-Pudlak syndrome, these vision problems usually remain stable after related-gene gene-symbol ghr-page MeSH D022861
early childhood. HPS3 https://ghr.nlm.nih.gov/gene/HPS3 db key
html:p People with Hermansky-Pudlak syndrome also have problems with blood clotting related-gene gene-symbol ghr-page OMIM 203300
(coagulation) that lead to easy bruising and prolonged bleeding. HPS4 https://ghr.nlm.nih.gov/gene/HPS4 db key
html:p Some individuals with Hermansky-Pudlak syndrome develop breathing problems due related-gene gene-symbol ghr-page Orphanet 79430
to a lung disease called pulmonary fibrosis, which causes scar tissue to form in HPS5 https://ghr.nlm.nih.gov/gene/HPS5 db key
the lungs. The symptoms of pulmonary fibrosis usually appear during an related-gene gene-symbol ghr-page SNOMED CT 9311003
individual's early thirties and rapidly worsen. Individuals with HPS6 https://ghr.nlm.nih.gov/gene/HPS6
Hermansky-Pudlak syndrome who develop pulmonary fibrosis often do not live for
more than a decade after they begin to experience breathing problems.
html:p Other, less common features of Hermansky-Pudlak syndrome include inflammation of
the large intestine (granulomatous colitis) and kidney failure.
html:p There are nine different types of Hermansky-Pudlak syndrome, which can be
distinguished by their signs and symptoms and underlying genetic cause. Types 1
and 4 are the most severe forms of the disorder. Types 1, 2, and 4 are the only
types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have
the mildest symptoms. Little is known about the signs, symptoms, and severity of
types 7, 8, and 9.
related-gene-list
Heterotaxy syndrome https://ghr.nlm.nih.gov/condition/heterotaxy-syndrome The prevalence of heterotaxy syndrome is estimated to be 1 in 10,000 people html:p Heterotaxy syndrome is a condition in which the internal organs are abnormally ad autosomal dominant ACVR2B https://ghr.nlm.nih.gov/gene/ACVR2B heterotaxy db key 2016-01 2017-12-29
異源性綜合症 worldwide. However, researchers suspect that the condition is underdiagnosed, arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words code memo related-gene gene-symbol ghr-page HTX GTR C1844020
and so it may actually be more common than this. Heterotaxy syndrome accounts "heteros," meaning "other than," and "taxis," meaning "arrangement." ar autosomal recessive CFAP53 https://ghr.nlm.nih.gov/gene/CFAP53 Ivemark syndrome db key
for approximately 3 percent of all congenital heart defects. For reasons that Individuals with this condition have complex birth defects affecting the heart, code memo related-gene gene-symbol ghr-page left isomerism GTR C1853444
are unknown, the condition appears to be more common in Asian populations than lungs, liver, spleen, intestines, and other organs. n not inherited CFC1 https://ghr.nlm.nih.gov/gene/CFC1 right isomerism db key
in North America and Europe. Recent studies report that in the United States, html:p In the normal body, most of the organs in the chest and abdomen have a code memo related-gene gene-symbol ghr-page situs ambiguus GTR C1853509
the condition occurs more frequently in children born to black or Hispanic particular location on the right or left side. For example, the heart, spleen, x X-linked CITED2 https://ghr.nlm.nih.gov/gene/CITED2 situs ambiguus viscerum db key
mothers than in children born to white mothers. and pancreas are on the left side of the body, and most of the liver is on the related-gene gene-symbol ghr-page visceral heterotaxy GTR C1854334
right. This normal arrangement of the organs is known as "situs solitus." CRELD1 https://ghr.nlm.nih.gov/gene/CRELD1 db key
Rarely, the orientation of the internal organs is completely flipped from right related-gene gene-symbol ghr-page GTR C3151057
to left, a situation known as "situs inversus." This mirror-image orientation DNAH5 https://ghr.nlm.nih.gov/gene/DNAH5 db key
usually does not cause any health problems, unless it occurs as part of a related-gene gene-symbol ghr-page GTR C3178805
syndrome affecting other parts of the body. Heterotaxy syndrome is an DNAH11 https://ghr.nlm.nih.gov/gene/DNAH11 db key
arrangement of internal organs somewhere between situs solitus and situs related-gene gene-symbol ghr-page GTR C3495537
inversus; this condition is also known as "situs ambiguus." Unlike situs DNAI1 https://ghr.nlm.nih.gov/gene/DNAI1 db key
inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes related-gene gene-symbol ghr-page GTR C3553676
serious health problems. FOXH1 https://ghr.nlm.nih.gov/gene/FOXH1 db key
html:p Heterotaxy syndrome alters the structure of the heart, including the attachment related-gene gene-symbol ghr-page GeneReviews pcd
of the large blood vessels that carry blood to and from the rest of the body. It GATA4 https://ghr.nlm.nih.gov/gene/GATA4 db key
can also affect the structure of the lungs, such as the number of lobes in each related-gene gene-symbol ghr-page ICD-10-CM Q89.3
lung and the length of the tubes (called bronchi) that lead from the windpipe GDF1 https://ghr.nlm.nih.gov/gene/GDF1 db key
to the lungs. In the abdomen, the condition can cause a person to have no spleen related-gene gene-symbol ghr-page MeSH D059446
(asplenia) or multiple small, poorly functioning spleens (polysplenia). The GJA1 https://ghr.nlm.nih.gov/gene/GJA1 db key
liver may lie across the middle of the body instead of being in its normal related-gene gene-symbol ghr-page OMIM 208530
position to the right of the stomach. Some affected individuals also have LEFTY2 https://ghr.nlm.nih.gov/gene/LEFTY2 db key
intestinal malrotation, which is an abnormal twisting of the intestines that related-gene gene-symbol ghr-page OMIM 270100
occurs in the early stages of development before birth. MMP21 https://ghr.nlm.nih.gov/gene/MMP21 db key
html:p Depending on the organs involved, signs and symptoms of heterotaxy syndrome can related-gene gene-symbol ghr-page OMIM 306955
include a bluish appearance of the skin or lips (cyanosis, which is due to a NAT10 https://ghr.nlm.nih.gov/gene/NAT10 db key
shortage of oxygen), breathing difficulties, an increased risk of infections, related-gene gene-symbol ghr-page OMIM 605376
and problems with digesting food. The most serious complications are generally NKX2-5 https://ghr.nlm.nih.gov/gene/NKX2-5 db key
caused by critical congenital heart disease, a group of complex heart defects related-gene gene-symbol ghr-page OMIM 606217
that are present from birth. Biliary atresia, a problem with the bile ducts in NODAL https://ghr.nlm.nih.gov/gene/NODAL db key
the liver, can also cause severe health problems in infancy. Heterotaxy syndrome related-gene gene-symbol ghr-page OMIM 606325
is often life-threatening in infancy or childhood, even with treatment, SESN1 https://ghr.nlm.nih.gov/gene/SESN1 db key
although its severity depends on the specific abnormalities involved. related-gene gene-symbol ghr-page OMIM 613751
SHROOM3 https://ghr.nlm.nih.gov/gene/SHROOM3 db key
related-gene gene-symbol ghr-page OMIM 614779
SMAD2 https://ghr.nlm.nih.gov/gene/SMAD2 db key
related-gene gene-symbol ghr-page Orphanet 137628
ZIC3 https://ghr.nlm.nih.gov/gene/ZIC3 db key
Orphanet 157769
db key
Orphanet 97548
db key
SNOMED CT 14821001
HFE-Associated Hereditary Hemochromatosis
血鐵沈積症
db key
related-gene-list SNOMED CT 8.6E+12
Hidradenitis suppurativa https://ghr.nlm.nih.gov/condition/hidradenitis-suppurativa Hidradenitis suppurativa was once thought to be a rare condition because html:p Hidradenitis suppurativa, also known as acne inversa, is a chronic skin disease ad autosomal dominant NCSTN https://ghr.nlm.nih.gov/gene/NCSTN acne inversa db key 2013-12 2017-12-29
化膿性汗腺炎 only the most severe cases were reported. However, recent studies have shown characterized by recurrent boil-like lumps (nodules) under the skin. The nodules related-gene gene-symbol ghr-page hidradenitides, suppurative GTR C1840560
that the condition affects at least 1 in 100 people when milder cases are also become inflamed and painful. They tend to break open (rupture), causing PSEN1 https://ghr.nlm.nih.gov/gene/PSEN1 hidradenitis, suppurative db key
considered. For reasons that are unclear, women are about twice as likely as men abscesses that drain fluid and pus. As the abscesses heal, they produce related-gene gene-symbol ghr-page suppurative hidradenitides ICD-10-CM L73.2
to develop the condition. significant scarring of the skin. PSENEN https://ghr.nlm.nih.gov/gene/PSENEN suppurative hidradenitis db key
html:p The signs and symptoms of hidradenitis suppurativa appear after puberty, usually MeSH D017497
in a person's teens or twenties. Nodules are most likely to form in the armpits db key
and groin. They may also develop around the anus, on the buttocks, or under the OMIM 142690
breasts. In some cases, nodules appear in other areas, such as the nape of the db key
neck, waist, and inner thighs. OMIM 613736
html:p The recurrent nodules and abscesses cause chronic pain and can lead to db key
self-consciousness, social isolation, and depression. Rarely, nodules on the OMIM 613737
buttocks can develop into a type of skin cancer called squamous cell carcinoma. db key
Orphanet 387
db key
related-gene-list SNOMED CT 59393003
Hirschsprung disease https://ghr.nlm.nih.gov/condition/hirschsprung-disease Hirschsprung disease occurs in approximately 1 in 5,000 newborns. html:p Hirschsprung disease is an intestinal disorder characterized by the absence of ad autosomal dominant EDN3 https://ghr.nlm.nih.gov/gene/EDN3 aganglionic megacolon db key 2012-08 2017-12-29
赫普隆氏症 nerves in parts of the intestine. This condition occurs when the nerves in the related-gene gene-symbol ghr-page congenital intestinal aganglionosis GTR C1838564
congenital megacolon intestine (enteric nerves) do not form properly during development before birth EDNRB https://ghr.nlm.nih.gov/gene/EDNRB congenital megacolon db key
先天性巨結腸症 (embryonic development). This condition is usually identified in the first two related-gene gene-symbol ghr-page Hirschsprung's disease GTR C2931739
months of life, although less severe cases may be diagnosed later in childhood. GDNF https://ghr.nlm.nih.gov/gene/GDNF HSCR db key
html:p Enteric nerves trigger the muscle contractions that move stool through the related-gene gene-symbol ghr-page GTR C2931876
intestine. Without these nerves in parts of the intestine, the material cannot NRG1 https://ghr.nlm.nih.gov/gene/NRG1 db key
be pushed through, causing severe constipation or complete blockage of the related-gene gene-symbol ghr-page GTR C3150975
intestine in people with Hirschsprung disease. Other signs and symptoms of this NRTN https://ghr.nlm.nih.gov/gene/NRTN db key
condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, related-gene gene-symbol ghr-page GeneReviews hirschsprung-ov
malnutrition, and slow growth. People with this disorder are at risk of RET https://ghr.nlm.nih.gov/gene/RET db key
developing more serious conditions such as inflammation of the intestine ICD-10-CM Q43.1
(enterocolitis) or a hole in the wall of the intestine (intestinal perforation), db key
which can cause serious infection and may be fatal. MeSH D006627
html:p There are two main types of Hirschsprung disease, known as short-segment disease db key
and long-segment disease, which are defined by the region of the intestine OMIM 142623
lacking nerve cells. In short-segment disease, nerve cells are missing from only db key
the last segment of the large intestine. This type is most common, occurring in OMIM 600155
approximately 80 percent of people with Hirschsprung disease. For unknown db key
reasons, short-segment disease is four times more common in men than in women. OMIM 613711
Long-segment disease occurs when nerve cells are missing from most of the large db key
intestine and is the more severe type. Long-segment disease is found in OMIM 613712
approximately 20 percent of people with Hirschsprung disease and affects men and db key
women equally. Very rarely, nerve cells are missing from the entire large SNOMED CT 204739008
intestine and sometimes part of the small intestine (total colonic db key
aganglionosis) or from all of the large and small intestine (total intestinal SNOMED CT 253780003
aganglionosis).
html:p Hirschsprung disease can occur in combination with other conditions, such as
Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central
hypoventilation syndrome. These cases are described as syndromic. Hirschsprung
disease can also occur without other conditions, and these cases are referred to
as isolated or nonsyndromic.
related-gene-list
Histidinemia https://ghr.nlm.nih.gov/condition/histidinemia Estimates of the incidence of histidinemia vary widely, ranging between 1 html:p Histidinemia is an inherited condition characterized by elevated blood levels of ar autosomal recessive HAL https://ghr.nlm.nih.gov/gene/HAL HAL deficiency db key 2009-08 2017-12-29
组氨酸血症 in 8,600 to 1 in 90,000 people. the amino acid histidine, a building block of most proteins. Histidinemia is HIS deficiency GTR C0220992
caused by the shortage (deficiency) of the enzyme that breaks down histidine. histidase deficiency db key
Histidinemia typically causes no health problems, and most people with elevated histidine ammonia-lyase deficiency ICD-10-CM E70.41
histidine levels are unaware that they have this condition. hyperhistidinemia db key
html:p The combination of histidinemia and a medical complication during or soon after MeSH D000592
birth (such as a temporary lack of oxygen) might increase a person's chances of db key
developing intellectual disability, behavioral problems, or learning disorders. OMIM 235800
db key
Orphanet 2157
db key
SNOMED CT 124628005
db key
inheritance-pattern-list related-gene-list SNOMED CT 410058007
Histiocytosis-lymphadenopathy plus syndrome https://ghr.nlm.nih.gov/condition/histiocytosis-lymphadenopathy-plus-syndrome Histiocytosis-lymphadenopathy plus syndrome is a rare disorder, affecting html:p html:i ar autosomal recessive SLC29A3 synonym db-key db key 2014-12 2017-12-29
approximately 100 individuals worldwide. SLC29A3 synonym GTR C1864445
db-key db key
MeSH D015614
db-key db key
OMIM 602782
db-key db key
Orphanet 158014
db-key db key
Orphanet 168569
db-key db key
html:p A feature common to the disorders in this spectrum is histiocytosis, which is SNOMED CT 711159002
the overgrowth of immune system cells called histiocytes. The cells abnormally
accumulate in one or more tissues in the body, which can lead to organ or tissue
damage. The buildup often occurs in the lymph nodes, leading to swelling of the
lymph nodes (lymphadenopathy). Other areas of cell accumulation can include the
skin, kidneys, brain and spinal cord (central nervous system), or digestive
tract.
html:p This spectrum is known as histiocytosis-lymphadenopathy plus syndrome because
the disorders that make up the spectrum can have additional signs and symptoms.
A characteristic feature of H syndrome is abnormal patches of skin (lesions),
typically on the lower body. These lesions are unusually dark (hyperpigmented)
and have excessive hair growth (hypertrichosis). In addition, histiocytes
accumulate at the site of the skin lesions. Other features of H syndrome include
enlargement of the liver (hepatomegaly), heart abnormalities, hearing loss,
reduced amounts of hormones that direct sexual development (hypogonadism), and
short stature.
html:p Like H syndrome, PHID causes patches of hyperpigmented skin with hypertrichosis.
PHID is also characterized by the development of type 1 diabetes (also known as
insulin-dependent diabetes mellitus), which usually begins in childhood. Type 1
diabetes occurs when the body does not produce enough of the hormone insulin,
leading to dysregulation of blood sugar levels.
html:p Faisalabad histiocytosis typically causes lymphadenopathy and swelling of the
eyelids due to accumulation of histiocytes. Affected individuals can also have
joint deformities called contractures in their fingers or toes and hearing loss.
html:p The most common feature of familial Rosai-Dorfman disease is lymphadenopathy,
usually affecting lymph nodes in the neck. Histiocytes can also accumulate in
other parts of the body.
inheritance-pattern-list related-gene-list
HIVEP2-related intellectual disability https://ghr.nlm.nih.gov/condition/hivep2-related-intellectual-disability HIVEP2-related intellectual disability is a rare disorder. At least nine html:p html:i ad autosomal dominant ghr-page mental retardation, autosomal dominant 43 db-key db key 2017-01 2017-12-29
individuals with the condition have been described in the medical literature. HIVEP2 https://ghr.nlm.nih.gov/gene/HIVEP2 MRD43 MeSH D008607
db-key db key
OMIM 616977
-related intellectual disability also have unusual physical features, such as
widely spaced eyes (hypertelorism), a broad nasal bridge, or fingers with
tapered ends, although there is no characteristic pattern of such features among
affected individuals. Many people with the condition exhibit behavioral
problems, such as hyperactivity, attention deficit disorder, aggression,
anxiety, and autism spectrum disorder, which is a group of developmental
disorders characterized by impaired communication and social interaction.
html:p html:i
HIVEP2
-related intellectual disability have gastrointestinal problems, which can
include backflow of acidic stomach contents into the esophagus (gastroesophageal
reflux) and constipation.
related-gene-list
Holocarboxylase synthetase deficiency https://ghr.nlm.nih.gov/condition/holocarboxylase-synthetase-deficiency The exact incidence of this condition is unknown, but it is estimated to html:p Holocarboxylase synthetase deficiency is an inherited disorder in which the body ar autosomal recessive HLCS https://ghr.nlm.nih.gov/gene/HLCS Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency db key 2007-06 2017-12-29
全羧化酶合成酶缺乏症 affect 1 in 87,000 people. is unable to use the vitamin biotin effectively. This disorder is classified Early-Onset Combined Carboxylase Deficiency GTR C0268581
as a multiple carboxylase deficiency (多發性羧化酶缺乏症 (多發性生物素輔酶酵素缺乏症)), a group of disorders characterized by HLCS deficiency db key
impaired activity of certain enzymes that depend on biotin. Infantile Multiple Carboxylase Deficiency ICD-10-CM D81.818
html:p The signs and symptoms of holocarboxylase synthetase deficiency typically appear Multiple Carboxylase Deficiency, Neonatal Form db key
within the first few months of life, but the age of onset varies. Affected MeSH D028922
infants often have difficulty feeding, breathing problems, a skin rash, hair db key
loss (alopecia), and a lack of energy (lethargy). Immediate treatment and OMIM 253270
lifelong management with biotin supplements may prevent many of these db key
complications. If left untreated, the disorder can lead to delayed development, Orphanet 148
seizures, and coma. These medical problems may be life-threatening in some db key
cases. SNOMED CT 15307001
Holoprosencephaly, HPE
前腦發育畸形
related-gene-list
Holt-Oram syndrome https://ghr.nlm.nih.gov/condition/holt-oram-syndrome Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals. html:p Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and ad autosomal dominant TBX5 https://ghr.nlm.nih.gov/gene/TBX5 atrio-digital syndrome db key 2014-06 2017-12-29
Holt-Oram氏综合征 arms (upper limbs) and heart problems. atriodigital dysplasia GTR C0265264
心手症候群 html:p People with Holt-Oram syndrome have abnormally developed bones in their upper cardiac-limb syndrome db key
limbs. At least one abnormality in the bones of the wrist (carpal bones) is heart-hand syndrome, type 1 GeneReviews hos
present in affected individuals. Often, these wrist bone abnormalities can be HOS db key
detected only by x-ray. Individuals with Holt-Oram syndrome may have additional ventriculo-radial syndrome MeSH D006330
bone abnormalities including a missing thumb, a long thumb that looks like a db key
finger, partial or complete absence of bones in the forearm, an underdeveloped MeSH D038062
bone of the upper arm, and abnormalities of the collar bone or shoulder blades. db key
These skeletal abnormalities may affect one or both of the upper limbs. If both OMIM 142900
upper limbs are affected, the bone abnormalities can be the same or different on db key
each side. In cases where the skeletal abnormalities are not the same on both Orphanet 392
sides of the body, the left side is usually more severely affected than the db key
right side. SNOMED CT 19092004
html:p About 75 percent of individuals with Holt-Oram syndrome have heart (cardiac)
problems, which can be life-threatening. The most common problem is a defect in
the muscular wall (septum) that separates the right and left sides of the heart.
A hole in the septum between the upper chambers of the heart (atria) is called
an atrial septal defect (ASD), and a hole in the septum between the lower
chambers of the heart (ventricles) is called a ventricular septal defect (VSD).
Some people with Holt-Oram syndrome have cardiac conduction disease, which is
caused by abnormalities in the electrical system that coordinates contractions
of the heart chambers. Cardiac conduction disease can lead to problems such as a
slower-than-normal heart rate (bradycardia) or a rapid and uncoordinated
contraction of the heart muscle (fibrillation). Cardiac conduction disease can
occur along with other heart defects (such as ASD or VSD) or as the only heart
problem in people with Holt-Oram syndrome.
html:p The features of Holt-Oram syndrome are similar to those of a condition called
Duane-radial ray syndrome; however, these two disorders are caused by mutations
in different genes.
related-gene-list
Homocystinuria https://ghr.nlm.nih.gov/condition/homocystinuria The most common form of homocystinuria affects at least 1 in 200,000 to html:p Homocystinuria is an inherited disorder in which the body is unable to process ar autosomal recessive CBS https://ghr.nlm.nih.gov/gene/CBS cystathionine beta synthase deficiency db key 2016-03 2017-12-29
高胱胺酸尿症 335,000 people worldwide. The disorder appears to be more common in some certain building blocks of proteins (amino acids) properly. There are multiple related-gene gene-symbol ghr-page homocysteinemia GTR C0019880
countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in forms of homocystinuria, which are distinguished by their signs and symptoms and MMADHC https://ghr.nlm.nih.gov/gene/MMADHC db key
6,400), and Qatar (1 in 1,800). The rarer forms of homocystinuria each have a genetic cause. The most common form of homocystinuria is characterized by related-gene gene-symbol ghr-page GTR C1848553
small number of cases reported in the scientific literature. nearsightedness (myopia), dislocation of the lens at the front of the eye, an MTHFR https://ghr.nlm.nih.gov/gene/MTHFR db key
increased risk of abnormal blood clotting, and brittle bones that are prone to related-gene gene-symbol ghr-page GTR C1856058
fracture (osteoporosis) or other skeletal abnormalities. Some affected MTR https://ghr.nlm.nih.gov/gene/MTR db key
individuals also have developmental delay and learning problems. related-gene gene-symbol ghr-page GTR C3150344
html:p Less common forms of homocystinuria can cause intellectual disability, failure MTRR https://ghr.nlm.nih.gov/gene/MTRR db key
to grow and gain weight at the expected rate (failure to thrive), seizures, GeneReviews cbl
problems with movement, and a blood disorder called megaloblastic anemia. db key
Megaloblastic anemia occurs when a person has a low number of red blood cells GeneReviews homocystinuria
(anemia), and the remaining red blood cells are larger than normal db key
(megaloblastic). ICD-10-CM E72.11
html:p The signs and symptoms of homocystinuria typically develop within the first year db key
of life, although some mildly affected people may not develop features until ICD-10-CM E72.12
later in childhood or adulthood. db key
MeSH D006712
db key
OMIM 236200
db key
OMIM 236250
db key
OMIM 236270
db key
OMIM 250940
db key
OMIM 277410
db key
Orphanet 394
db key
Orphanet 395
db key
Orphanet 622
db key
SNOMED CT 11282001
db key
SNOMED CT 24308003
db key
SNOMED CT 28093001
Homozygous familial hypercholestrolemia
同合子家族性高膽固醇血症
db key
related-gene-list SNOMED CT 360373000
Horizontal gaze palsy with progressive scoliosis https://ghr.nlm.nih.gov/condition/horizontal-gaze-palsy-with-progressive-scoliosis HGPPS has been reported in several dozen families worldwide. html:p Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that ar autosomal recessive ROBO3 https://ghr.nlm.nih.gov/gene/ROBO3 familial horizontal gaze palsy with progressive scoliosis db key 2009-03 2017-12-29
affects vision and also causes an abnormal curvature of the spine (scoliosis). familial idiopathic scoliosis associated with congenital encephalopathy GTR C1846496
People with this condition are unable to move their eyes side-to-side familial infantile scoliosis associated with bilateral paralysis of conjugate db key
(horizontally). As a result, affected individuals must turn their head instead gaze MeSH D012600
of moving their eyes to track moving objects. Up-and-down (vertical) eye gaze palsy, familial horizontal, with progressive scoliosis db key
movements are typically normal. HGPPS MeSH D015785
html:p In people with HGPPS, an abnormal side-to-side curvature of the spine develops ophthalmoplegia, progressive external, and scoliosis db key
in infancy or childhood. It tends to be moderate to severe and worsens over OMIM 607313
time. Because the abnormal spine position can be painful and interfere with db key
movement, it is often treated with surgery early in life. Orphanet 2744
db key
synonym-list db-key-list SNOMED CT 702381007
Horner syndrome https://ghr.nlm.nih.gov/condition/horner-syndrome About 1 in 6,250 babies are born with Horner syndrome. The incidence of html:p Horner syndrome is a disorder that affects the eye and surrounding tissues on ad autosomal dominant synonym Horner's syndrome key 2017-12-29
霍納氏症候群 Horner syndrome that appears later is unknown, but it is considered an uncommon one side of the face and results from paralysis of certain nerves. Horner synonym oculosympathetic palsy db-key C1840475
disorder. syndrome can appear at any time of life; in about 5 percent of affected synonym von Passow syndrome key
individuals, the disorder is present from birth (congenital). db-key G90.2
html:p Horner syndrome is characterized by drooping of the upper eyelid (ptosis) on the key
affected side, a constricted pupil in the affected eye (miosis) resulting in db-key D006732
unequal pupil size (anisocoria), and absent sweating (anhidrosis) on the key
affected side of the face. Sinking of the eye into its cavity (enophthalmos) and db-key 143000
a bloodshot eye often occur in this disorder. In people with Horner syndrome key
that occurs before the age of 2, the colored part (iris) of the eyes may differ db-key 164018003
in color (iris heterochromia), with the iris of the affected eye being lighter key
in color than that of the unaffected eye. Individuals who develop Horner db-key 192915005
syndrome after age 2 do not generally have iris heterochromia. key
html:p The abnormalities in the eye area related to Horner syndrome do not generally 271730003
affect vision or health. However, the nerve damage that causes Horner syndrome
may result from other health problems, some of which can be life-threatening.
related-gene-list
Huntington disease https://ghr.nlm.nih.gov/condition/huntington-disease Huntington disease affects an estimated 3 to 7 per 100,000 people of html:p Huntington disease is a progressive brain disorder that causes uncontrolled ad autosomal dominant HTT https://ghr.nlm.nih.gov/gene/HTT Huntington chorea db key 2013-06 2017-12-29
亨丁頓舞蹈症 European ancestry. The disorder appears to be less common in some other movements, emotional problems, and loss of thinking ability (cognition). Huntington chronic progressive hereditary chorea GTR C0020179
populations, including people of Japanese, Chinese, and African descent. html:p Adult-onset Huntington disease, the most common form of this disorder, usually Huntington's chorea db key
appears in a person's thirties or forties. Early signs and symptoms can include Huntington's disease GTR C0751208
irritability, depression, small involuntary movements, poor coordination, and db key
trouble learning new information or making decisions. Many people with GeneReviews huntington
Huntington disease develop involuntary jerking or twitching movements known as db key
chorea. As the disease progresses, these movements become more pronounced. ICD-10-CM G10
Affected individuals may have trouble walking, speaking, and swallowing. People db key
with this disorder also experience changes in personality and a decline in MeSH D006816
thinking and reasoning abilities. Individuals with the adult-onset form of db key
Huntington disease usually live about 15 to 20 years after signs and symptoms OMIM 143100
begin. db key
html:p A less common form of Huntington disease known as the juvenile form begins in Orphanet 399
childhood or adolescence. It also involves movement problems and mental and db key
emotional changes. Additional signs of the juvenile form include slow movements, SNOMED CT 230299004
clumsiness, frequent falling, rigidity, slurred speech, and drooling. School db key
performance declines as thinking and reasoning abilities become impaired. SNOMED CT 230300007
Seizures occur in 30 percent to 50 percent of children with this condition. db key
Juvenile Huntington disease tends to progress more quickly than the adult-onset SNOMED CT 58756001
form; affected individuals usually live 10 to 15 years after signs and symptoms
appear.
related-gene-list
Huntington disease-like syndrome https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome Overall, HDL syndromes are rare. They are much less common than Huntington html:p As its name suggests, a Huntington disease-like (HDL) syndrome is a condition ad autosomal dominant JPH3 https://ghr.nlm.nih.gov/gene/JPH3 Huntington disease-like syndromes db key 2008-08 2017-12-29
disease, which affects an estimated 3 to 7 per 100,000 people of European that resembles Huntington disease. Researchers have described four HDL code memo related-gene gene-symbol ghr-page Huntington's disease-like syndromes GTR C1846707
ancestry.Of the four described HDL syndromes, HDL4 appears to be the most syndromes, designated Huntington disease-like 1 (HDL1) through Huntington ar autosomal recessive PRNP https://ghr.nlm.nih.gov/gene/PRNP Huntington's disease phenocopies db key
common. HDL2 is the second most common and occurs almost exclusively in people disease-like 4 (HDL4). These progressive brain disorders are characterized by related-gene gene-symbol ghr-page Huntington's disease phenocopy syndromes GTR C1847987
of African heritage (especially black South Africans). HDL1 has been reported uncontrolled movements, emotional problems, and loss of thinking ability. HDL TBP https://ghr.nlm.nih.gov/gene/TBP db key
in only one family. HDL3 has been found in two families, both of which were syndromes occur in people with the characteristic features of Huntington disease GTR C1858114
from Saudi Arabia. who do not have a mutation in HD, the gene typically associated with that db key
disorder. GTR C1864112
html:p HDL1, HDL2, and HDL4 usually appear in early to mid-adulthood, although they can db key
begin earlier in life. The first signs and symptoms of these conditions often GeneReviews hd-l2
include irritability, emotional problems, small involuntary movements, poor db key
coordination, and trouble learning new information or making decisions. Many GeneReviews sca17
affected people develop involuntary jerking or twitching movements known as db key
chorea. As the disease progresses, these abnormal movements become more MeSH D006816
pronounced. Affected individuals may develop problems with walking, speaking, db key
and swallowing. People with these disorders also experience changes in MeSH D020271
personality and a decline in thinking and reasoning abilities. Individuals with db key
an HDL syndrome can live for a few years to more than a decade after signs and OMIM 603218
symptoms begin. db key
html:p HDL3 begins much earlier in life than most of the other HDL syndromes (usually OMIM 604802
around age 3 or 4). Affected children experience a decline in thinking ability, db key
difficulties with movement and speech, and seizures. Because HDL3 has a OMIM 606438
somewhat different pattern of signs and symptoms and a different pattern of db key
inheritance, researchers are unsure whether it belongs in the same category as OMIM 607136
the other HDL syndromes. db key
Orphanet 158266
db key
related-gene-list SNOMED CT 702376003
Hutchinson-Gilford progeria syndrome https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome This condition is very rare; it is reported to occur in 1 in 4 million html:p Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the ad autosomal dominant LMNA https://ghr.nlm.nih.gov/gene/LMNA HGPS db key 2016-05 2017-12-29
早年衰老症候群 newborns worldwide. More than 130 cases have been reported in the scientific dramatic, rapid appearance of aging beginning in childhood. Affected children Hutchinson-Gilford syndrome GTR C0033300
literature since the condition was first described in 1886. typically look normal at birth and in early infancy, but then grow more slowly progeria db key
than other children and do not gain weight at the expected rate (failure to progeria of childhood GTR C2750285
thrive). They develop a characteristic facial appearance including prominent db key
eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding GTR C4016241
ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), db key
aged-looking skin, joint abnormalities, and a loss of fat under the skin GeneReviews hgps
(subcutaneous fat). This condition does not affect intellectual development or db key
the development of motor skills such as sitting, standing, and walking. MeSH D011371
html:p People with Hutchinson-Gilford progeria syndrome experience severe hardening of db key
the arteries (arteriosclerosis) beginning in childhood. This condition greatly OMIM 176670
increases the chances of having a heart attack or stroke at a young age. These db key
serious complications can worsen over time and are life-threatening for affected Orphanet 740
individuals. db key
Hydroxyprolinemia
高羥脯氨酸血症
related-gene-list SNOMED CT 238870004
Hypercholesterolemia https://ghr.nlm.nih.gov/condition/hypercholesterolemia More than 34 million American adults have elevated blood cholesterol levels html:p Hypercholesterolemia is a condition characterized by very high levels of ad autosomal dominant APOB https://ghr.nlm.nih.gov/gene/APOB Elevated cholesterol db key 2007-03 2017-12-29
高胆固醇血症 (higher than 240 mg/dL). Inherited forms of hypercholesterolemia, which cause cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is code memo related-gene gene-symbol ghr-page GTR C0020445
even higher levels of cholesterol, occur less frequently. The most common produced in the body and obtained from foods that come from animals ar autosomal recessive LDLR https://ghr.nlm.nih.gov/gene/LDLR db key
inherited form of high cholesterol is called familial hypercholesterolemia. (particularly egg yolks, meat, poultry, fish, and dairy products). The body related-gene gene-symbol ghr-page GTR C1704417
This condition affects about 1 in 500 people in most countries. Familial needs this substance to build cell membranes, make certain hormones, and produce LDLRAP1 https://ghr.nlm.nih.gov/gene/LDLRAP1 db key
hypercholesterolemia occurs more frequently in certain populations, including compounds that aid in fat digestion. Too much cholesterol, however, increases a related-gene gene-symbol ghr-page GTR C1863512
Afrikaners in South Africa, French Canadians, Lebanese, and Finns. person's risk of developing heart disease. PCSK9 https://ghr.nlm.nih.gov/gene/PCSK9 db key
html:p People with hypercholesterolemia have a high risk of developing a form of heart GTR C1863551
disease called coronary artery disease. This condition occurs when excess db key
cholesterol in the bloodstream is deposited in the walls of blood vessels, GeneReviews hyperchol
particularly in the arteries that supply blood to the heart (coronary arteries). db key
The abnormal buildup of cholesterol forms clumps (plaque) that narrow and ICD-10-CM E78.0
harden artery walls. As the clumps get bigger, they can clog the arteries and db key
restrict the flow of blood to the heart. The buildup of plaque in coronary MeSH D006937
arteries causes a form of chest pain called angina and greatly increases a db key
person's risk of having a heart attack. OMIM 143890
html:p Inherited forms of hypercholesterolemia can also cause health problems related db key
to the buildup of excess cholesterol in other tissues. If cholesterol OMIM 144010
accumulates in tendons, it causes characteristic growths called tendon db key
xanthomas. These growths most often affect the Achilles tendons and tendons in OMIM 603776
the hands and fingers. Yellowish cholesterol deposits under the skin of the db key
eyelids are known as xanthelasmata. Cholesterol can also accumulate at the OMIM 603813
edges of the clear, front surface of the eye (the cornea), leading to a db key
gray-colored ring called an arcus cornealis. Orphanet 406
db key
SNOMED CT 238076009
db key
SNOMED CT 238081000
db key
SNOMED CT 397915002
db key
related-gene-list SNOMED CT 398036000
Hyperferritinemia-cataract syndrome https://ghr.nlm.nih.gov/condition/hyperferritinemia-cataract-syndrome Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in html:p Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of ad autosomal dominant FTL https://ghr.nlm.nih.gov/gene/FTL Bonneau-Beaumont syndrome db key 2012-08 2017-12-29
(Blood) 200,000 individuals. an iron storage protein called ferritin in the blood (hyperferritinemia) and hereditary hyperferritinemia-cataract syndrome GTR C1833213
tissues of the body. A buildup of this protein begins early in life, leading to hereditary hyperferritinemia with congenital cataracts db key
clouding of the lenses of the eyes (cataracts). In affected individuals, HHCS MeSH D019189
cataracts usually develop in infancy, rather than after age 60 as typically db key
occurs in the general population. Cataracts that are not removed surgically OMIM 600886
cause progressive dimming and blurriness of vision because the clouded lenses db key
reduce and distort incoming light. Orphanet 163
html:p Although the hyperferritinemia in this disorder does not usually cause any db key
health problems other than cataracts, the elevated ferritin levels in the blood SNOMED CT 702398007
can be mistaken for a sign of certain liver disorders. These conditions result
in excess iron in the body and may be treated by blood-drawing. However,
individuals with hyperferritinemia-cataract syndrome do not have an excess of
iron, and with repeated blood draws will develop reduced iron levels leading to
a low number of red blood cells (anemia). Therefore, correct diagnosis of
hyperferritinemia-cataract syndrome is important to avoid unnecessary treatments
or invasive test procedures such as liver biopsies.
related-gene-list
Hyperkalemic periodic paralysis https://ghr.nlm.nih.gov/condition/hyperkalemic-periodic-paralysis Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people. html:p Hyperkalemic periodic paralysis is a condition that causes episodes of extreme ad autosomal dominant SCN4A https://ghr.nlm.nih.gov/gene/SCN4A adynamia episodica hereditaria db key 2013-08 2017-12-29
低血鉀週期性麻痺症 muscle weakness or paralysis, usually beginning in infancy or early childhood. familial hyperkalemic periodic paralysis GTR C0238357
Most often, these episodes involve a temporary inability to move muscles in the Gamstorp disease db key
arms and legs. Episodes tend to increase in frequency until mid-adulthood, after Gamstorp episodic adynamy GTR CN074266
which they occur less frequently. Factors that can trigger attacks include rest hyperKPP db key
after exercise, potassium-rich foods such as bananas and potatoes, stress, hyperPP GeneReviews hyper-pp
fatigue, alcohol, pregnancy, exposure to cold temperatures, certain medications, primary hyperkalemic periodic paralysis db key
and periods without food (fasting). Muscle strength usually returns to normal ICD-10-CM G72.3
between attacks, although many affected people continue to experience mild db key
stiffness (myotonia), particularly in muscles of the face and hands. MeSH D020513
html:p Most people with hyperkalemic periodic paralysis have increased levels of db key
potassium in their blood (hyperkalemia) during attacks. Hyperkalemia results OMIM 170500
when the weak or paralyzed muscles release potassium ions into the bloodstream. db key
In other cases, attacks are associated with normal blood potassium levels Orphanet 682
(normokalemia). Ingesting potassium can trigger attacks in affected individuals, db key
even if blood potassium levels do not go up. SNOMED CT 304737009
related-gene-list
Hyperlysinemia https://ghr.nlm.nih.gov/condition/hyperlysinemia The incidence of hyperlysinemia is unknown. html:p Hyperlysinemia is an inherited condition characterized by elevated blood levels ar autosomal recessive AASS https://ghr.nlm.nih.gov/gene/AASS alpha-aminoadipic semialdehyde deficiency disease db key 2009-08 2017-12-29
高離氨酸血症 of the amino acid lysine, a building block of most proteins. Hyperlysinemia is familial hyperlysinemia GTR C0268553
caused by the shortage (deficiency) of the enzyme that breaks down lysine. lysine alpha-ketoglutarate reductase deficiency disease db key
Hyperlysinemia typically causes no health problems, and most people with saccharopine dehydrogenase deficiency disease GTR C0268556
elevated lysine levels are unaware that they have this condition. Rarely, saccharopinuria db key
people with hyperlysinemia have intellectual disability or behavioral problems. ICD-10-CM E72.3
It is not clear whether these problems are due to hyperlysinemia or another db key
cause. MeSH D020167
db key
OMIM 238700
db key
OMIM 268700
db key
Orphanet 2203
db key
SNOMED CT 111397004
db key
SNOMED CT 340519003
db key
SNOMED CT 341536001
db key
SNOMED CT 342553006
db key
SNOMED CT 58558003
db key
related-gene-list SNOMED CT 66002008
Hypermanganesemia with dystonia https://ghr.nlm.nih.gov/condition/hypermanganesemia-with-dystonia The prevalence of hypermanganesemia with dystonia is unknown. A small html:p Hypermanganesemia with dystonia is an inherited disorder in which excessive ar autosomal recessive SLC30A10 https://ghr.nlm.nih.gov/gene/SLC30A10 familial manganese-induced neurotoxicity db key 2017-10 2017-12-29
number of cases of each type have been described in the scientific literature. amounts of the element manganese accumulate in the body (hypermanganesemia). One related-gene gene-symbol ghr-page HMNDYT GTR C2750442
place manganese builds up in particular is in a region of the brain responsible SLC39A14 https://ghr.nlm.nih.gov/gene/SLC39A14 db key
for the coordination of movement, causing neurological problems that make GTR C4310765
controlling movement difficult. Consequently, the condition is characterized by db key
involuntary, sustained muscle contractions (dystonia) and other uncontrolled GeneReviews hmdpc
movements. Two types of hypermanganesemia with dystonia, called db key
hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) and GeneReviews slc39a14-def
hypermanganesemia with dystonia 2, have been identified. They are distinguished db key
by their genetic causes and certain specific features. MeSH D008664
html:p In HMDPC (also known as hypermanganesemia with dystonia 1), manganese db key
accumulates in the blood, brain, and liver. Signs and symptoms of the condition OMIM 613280
can begin in childhood (early-onset), typically between ages 2 and 15, or in db key
adulthood (adult-onset). Most children with the early-onset form of HMDPC OMIM 617013
experience dystonia in the arms and legs, which often leads to a characteristic db key
high-stepping walk described as a "cock-walk gait." Other neurological symptoms Orphanet 309854
in affected children include involuntary trembling (tremor), unusually slow db key
movement (bradykinesia), and slurred speech (dysarthria). The adult-onset form SNOMED CT 702377007
of HMDPC is characterized by a pattern of movement abnormalities known as
parkinsonism, which includes bradykinesia, tremor, muscle rigidity, and an
inability to hold the body upright and balanced (postural instability).
html:p Individuals with HMDPC have an increased number of red blood cells
(polycythemia) and low levels of iron stored in the body. Additional features of
HMDPC can include an enlarged liver (hepatomegaly) due to manganese
accumulation in the organ, scarring (fibrosis) in the liver, and irreversible
liver disease (cirrhosis).
html:p In hypermanganesemia with dystonia 2, manganese accumulates in the blood and
brain. Signs and symptoms of this type of the disorder usually begin between
ages 6 months and 3 years. Development of motor skills, such as sitting and
walking, may be delayed, or if already learned, they may be lost. Dystonia can
affect any part of the body and worsens over time. By late childhood, the
sustained muscle contractions often result in joints that are permanently bent
(contractures) and an inability to walk unassisted. Some affected individuals
have an abnormal curvature of the spine (scoliosis). People with
hypermanganesemia with dystonia 2 can have other neurological problems similar
to those in HMDPC, such as tremor, bradykinesia, parkinsonism, and dysarthria.
Unlike in HMDPC, individuals with hypermanganesemia with dystonia 2 do not
develop polycythemia or liver problems.
related-gene-list
Hypermethioninemia https://ghr.nlm.nih.gov/condition/hypermethioninemia Primary hypermethioninemia that is not caused by other disorders or excess html:p Hypermethioninemia is an excess of a particular protein building block (amino ad autosomal dominant AHCY https://ghr.nlm.nih.gov/gene/AHCY Deficiency of methionine adenosyltransferase db key 2007-04 2017-12-29
高甲硫胺酸血症 methionine intake appears to be rare; only a small number of cases have been acid), called methionine, in the blood. This condition can occur when methionine code memo related-gene gene-symbol ghr-page glycine N-methyltransferase deficiency GTR C0268621
Methionine adenosyltransferase deficiency , MET reported. The actual incidence is difficult to determine, however, since many is not broken down (metabolized) properly in the body. ar autosomal recessive GNMT https://ghr.nlm.nih.gov/gene/GNMT GNMT deficiency db key
individuals with hypermethioninemia have no symptoms. html:p People with hypermethioninemia often do not show any symptoms. Some individuals related-gene gene-symbol ghr-page Hepatic methionine adenosyltransferase deficiency GTR C1847720
with hypermethioninemia exhibit intellectual disability and other neurological MAT1A https://ghr.nlm.nih.gov/gene/MAT1A MAT deficiency db key
problems; delays in motor skills such as standing or walking; sluggishness; MET GTR C3151058
muscle weakness; liver problems; unusual facial features; and their breath, methionine adenosyltransferase deficiency db key
sweat, or urine may have a smell resembling boiled cabbage. methioninemia MeSH D000592
html:p Hypermethioninemia can occur with other metabolic disorders, such as S-adenosylhomocysteine hydrolase deficiency db key
homocystinuria, tyrosinemia and galactosemia, which also involve the faulty OMIM 250850
breakdown of particular molecules. It can also result from liver disease or db key
excessive dietary intake of methionine from consuming large amounts of protein OMIM 606664
or a methionine-enriched infant formula. db key
OMIM 613752
db key
Orphanet 168598
db key
Orphanet 289891
db key
Orphanet 88618
db key
SNOMED CT 124283007
db key
related-gene-list SNOMED CT 43123004
Hyperparathyroidism-jaw tumor syndrome https://ghr.nlm.nih.gov/condition/hyperparathyroidism-jaw-tumor-syndrome The exact prevalence of hyperparathyroidism-jaw tumor syndrome is unknown. html:p Hyperparathyroidism-jaw tumor syndrome is a condition characterized by ad autosomal dominant CDC73 https://ghr.nlm.nih.gov/gene/CDC73 familial cystic parathyroid adenomatosis db key 2010-07 2017-12-29
Approximately 200 cases have been reported in the medical literature. overactivity of the parathyroid glands (hyperparathyroidism). The four familial primary hyperparathyroidism with multiple ossifying jaw fibromas GTR C1704981
parathyroid glands are located in the neck and secrete a hormone that regulates hereditary hyperparathyroidism-jaw tumor syndrome db key
the body's use of calcium. Hyperparathyroidism disrupts the normal balance of HPT-JT GeneReviews hrpt2
calcium in the blood, which can lead to kidney stones, thinning of the bones hyperparathyroidism 2 db key
(osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, MeSH D049950
and fatigue. db key
html:p In people with hyperthyroidism-jaw tumor syndrome, hyperparathyroidism is caused OMIM 145001
by tumors that form in the parathyroid glands. Typically only one of the four db key
parathyroid glands is affected, but in some people, tumors are found in more Orphanet 99880
than one gland. The tumors are usually noncancerous (benign), in which case db key
they are called adenomas. Approximately 15 percent of people with SNOMED CT 702378002
hyperparathyroidism-jaw tumor syndrome develop a cancerous tumor called
parathyroid carcinoma. People with hyperparathyroidism-jaw tumor syndrome may
also have a type of benign tumor called a fibroma in the jaw. Even though jaw
tumors are specified in the name of this condition, it is estimated that only 25
to 50 percent of affected individuals have this symptom.
html:p Other tumors, both benign and cancerous, are often seen in
hyperparathyroidism-jaw tumor syndrome. For example, tumors of the uterus occur
in about 75 percent of women with this condition. The kidneys are affected in
about 20 percent of people with hyperparathyroidism-jaw tumor syndrome. Benign
kidney cysts are the most common kidney feature, but a rare tumor called Wilms
tumor and other types of kidney tumor have also been found.
related-gene-list
Hyperphosphatemic familial tumoral calcinosis https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis The prevalence of HFTC is unknown, but it is thought to be a rare html:p Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition ar autosomal recessive FGF23 https://ghr.nlm.nih.gov/gene/FGF23 HFTC db key 2012-08 2017-12-29
condition. It occurs most often in Middle Eastern and African populations. characterized by an increase in the levels of phosphate in the blood related-gene gene-symbol ghr-page hyperphosphatemia hyperostosis GTR C1876187
(hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) GALNT3 https://ghr.nlm.nih.gov/gene/GALNT3 hyperphosphatemia hyperostosis syndrome db key
in the body's tissues. Calcinosis typically develops in early childhood to early related-gene gene-symbol ghr-page hyperphosphatemia tumoral calcinosis MeSH D054559
adulthood, although in some people the deposits first appear in infancy or in KL https://ghr.nlm.nih.gov/gene/KL primary hyperphosphatemic tumoral calcinosis db key
late adulthood. Calcinosis usually occurs in and just under skin tissue around OMIM 211900
the joints, most often the hips, shoulders, and elbows. Calcinosis may also db key
develop in the soft tissue of the feet, legs, and hands. Rarely, calcinosis Orphanet 53715
occurs in blood vessels or in the brain and can cause serious health problems. db key
The deposits develop over time and vary in size. Larger deposits form masses SNOMED CT 20165001
that are noticeable under the skin and can interfere with the function of joints db key
and impair movement. These large deposits may appear tumor-like (tumoral), but SNOMED CT 61778004
they are not tumors or cancerous. The number and frequency of deposits varies
among affected individuals; some develop few deposits during their lifetime,
while others may develop many in a short period of time.
html:p Other features of HFTC include eye abnormalities such as calcium buildup in the
clear front covering of the eye (corneal calcification) or angioid streaks that
occur when tiny breaks form in the layer of tissue at the back of the eye called
Bruch's membrane. Inflammation of the long bones (diaphysis) or excessive bone
growth (hyperostosis) may occur. Some affected individuals have dental
abnormalities. In males, small crystals of cholesterol can accumulate
(microlithiasis) in the testicles, which usually causes no health problems.
html:p A similar condition called hyperphosphatemia-hyperostosis syndrome (HHS) results
in increased levels of phosphate in the blood, excessive bone growth, and bone
lesions. This condition used to be considered a separate disorder, but it is now
thought to be a mild variant of HFTC.
related-gene-list
Hyperprolinemia https://ghr.nlm.nih.gov/condition/hyperprolinemia It is difficult to determine the prevalence of hyperprolinemia type I html:p Hyperprolinemia is an excess of a particular protein building block (amino ar autosomal recessive ALDH4A1 https://ghr.nlm.nih.gov/gene/ALDH4A1 proline oxidase deficiency db key 2007-06 2017-12-29
高脯胺酸血症 because most people with the condition do not have any symptoms. Hyperprolinemia acid), called proline, in the blood. This condition generally occurs when related-gene gene-symbol ghr-page prolinemia GTR C0268529
type II is a rare condition; its prevalence is also unknown. proline is not broken down properly by the body. There are two inherited forms PRODH https://ghr.nlm.nih.gov/gene/PRODH pyrroline-5-carboxylate dehydrogenase deficiency db key
of hyperprolinemia, called type I and type II. pyrroline carboxylate dehydrogenase deficiency GTR C2931835
html:p People with hyperprolinemia type I often do not show any symptoms, although they db key
have proline levels in their blood between 3 and 10 times the normal level. MeSH D000592
Some individuals with hyperprolinemia type I exhibit seizures, intellectual db key
disability, or other neurological or psychiatric problems. OMIM 239500
html:p Hyperprolinemia type II results in proline levels in the blood between 10 and 15 db key
times higher than normal, and high levels of a related compound called OMIM 239510
pyrroline-5-carboxylate. This form of the disorder has signs and symptoms that db key
vary in severity, and is more likely than type I to involve seizures or Orphanet 419
intellectual disability. db key
html:p Hyperprolinemia can also occur with other conditions, such as malnutrition or Orphanet 79101
liver disease. In particular, individuals with conditions that cause elevated db key
levels of lactic acid in the blood (lactic acidemia) may have hyperprolinemia as SNOMED CT 59655002
well, because lactic acid inhibits the breakdown of proline.
related-gene-list
Hypochondrogenesis https://ghr.nlm.nih.gov/condition/hypochondrogenesis Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal html:p Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is ad autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 achondrogenesis type II/hypochondrogenesis db key 2008-07 2017-12-29
软骨发育不良 disorder) together affect 1 in 40,000 to 60,000 newborns. characterized by a small body, short limbs, and abnormal bone formation GTR C0220685
(ossification) in the spine and pelvis. db key
html:p Affected infants have short arms and legs, a small chest with short ribs, and GTR C0542428
underdeveloped lungs. Bones in the skull develop normally, but the bones of the db key
spine (vertebrae) and pelvis do not harden (ossify) properly. The face ICD-10-CM Q77.0
appears flat and oval-shaped, with widely spaced eyes, a small chin, and, in db key
some cases, an opening in the roof of the mouth called a cleft palate. MeSH D003095
Individuals with hypochondrogenesis have an enlarged abdomen and may have a db key
condition called hydrops fetalis in which excess fluid builds up in the body MeSH D010009
before birth. db key
html:p As a result of these serious health problems, some affected fetuses do not OMIM 200610
survive to term. Infants born with hypochondrogenesis usually die at birth or db key
shortly thereafter from respiratory failure. Babies who live past the newborn Orphanet 932
period are usually reclassified as having spondyloepiphyseal dysplasia db key
congenita, a related but milder disorder that similarly affects bone SNOMED CT 205483007
development. db key
related-gene-list SNOMED CT 254061001
Hypochondroplasia https://ghr.nlm.nih.gov/condition/hypochondroplasia The incidence of hypochondroplasia is unknown. Researchers believe that it html:p Hypochondroplasia is a form of short-limbed dwarfism. This condition affects ad autosomal dominant FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 HCH db key 2012-10 2017-12-29
季肋發育不全 may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 the conversion of cartilage into bone (a process called ossification), Hypochondrodysplasia GTR C0410529
newborns. More than 200 people worldwide have been diagnosed with particularly in the long bones of the arms and legs. Hypochondroplasia is db key
hypochondroplasia. similar to another skeletal disorder called achondroplasia, but the features GeneReviews hypochondroplasia
tend to be milder. db key
html:p All people with hypochondroplasia have short stature. The adult height for men ICD-10-CM Q77.4
with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 db key
inches to 5 feet, 5 inches). The height range for adult women is 128 MeSH D004392
centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches). db key
html:p People with hypochondroplasia have short arms and legs and broad, short hands OMIM 146000
and feet. Other characteristic features include a large head, limited range of db key
motion at the elbows, a sway of the lower back (lordosis), and bowed legs. Orphanet 429
These signs are generally less pronounced than those seen with achondroplasia db key
and may not be noticeable until early or middle childhood. Some studies have SNOMED CT 205468002
reported that a small percentage of people with hypochondroplasia have mild to
moderate intellectual disability or learning problems, but other studies have
produced conflicting results.
related-gene-list
Hypochromic microcytic anemia with iron overload https://ghr.nlm.nih.gov/condition/hypochromic-microcytic-anemia-with-iron-overlo Hypochromic microcytic anemia with iron overload is likely a rare disorder; html:p Hypochromic microcytic anemia with iron overload is a condition that impairs the ar autosomal recessive SLC11A2 https://ghr.nlm.nih.gov/gene/SLC11A2 microcytic anemia and hepatic iron overload db key 2014-11 2017-12-29
ad at least five affected families have been reported in the scientific normal transport of iron in cells. Iron is an essential component of microcytic anemia with liver iron overload GTR C2673913
literature. hemoglobin, which is the substance that red blood cells use to carry oxygen to db key
cells and tissues throughout the body. In this condition, red blood cells cannot MeSH D000747
access iron in the blood, so there is a decrease of red blood cell production db key
(anemia) that is apparent at birth. The red blood cells that are produced are OMIM 206100
abnormally small (microcytic) and pale (hypochromic). Hypochromic microcytic db key
anemia with iron overload can lead to pale skin (pallor), tiredness (fatigue), Orphanet 83642
and slow growth. db key
html:p In hypochromic microcytic anemia with iron overload, the iron that is not used SNOMED CT 711161006
by red blood cells accumulates in the liver, which can impair its function over
time. The liver problems typically become apparent in adolescence or early
adulthood.
related-gene-list
Hypohidrotic ectodermal dysplasia https://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia Hypohidrotic ectodermal dysplasia is the most common form of ectodermal html:p Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal ad autosomal dominant EDA https://ghr.nlm.nih.gov/gene/EDA Anhidrotic Ectodermal Dysplasia db key 2006-08 2017-12-29
dysplasia in humans. It is estimated to affect at least 1 in 17,000 people dysplasia in humans. Before birth, these disorders result in the abnormal code memo related-gene gene-symbol ghr-page Christ-Siemens-Touraine Syndrome GTR C0162359
worldwide. development of structures including the skin, hair, nails, teeth, and sweat ar autosomal recessive EDAR https://ghr.nlm.nih.gov/gene/EDAR CST syndrome db key
glands. code memo related-gene gene-symbol ghr-page HED GTR C0406702
html:p Most people with hypohidrotic ectodermal dysplasia have a reduced ability to xr X-linked recessive EDARADD https://ghr.nlm.nih.gov/gene/EDARADD db key
sweat (hypohidrosis) because they have fewer sweat glands than normal or their GTR C1720965
sweat glands do not function properly. Sweating is a major way that the body db key
controls its temperature; as sweat evaporates from the skin, it cools the body. GeneReviews x-hed
An inability to sweat can lead to a dangerously high body temperature db key
(hyperthermia), particularly in hot weather. In some cases, hyperthermia can ICD-10-CM Q82.4
cause life-threatening medical problems. db key
html:p Affected individuals tend to have sparse scalp and body hair (hypotrichosis). MeSH D053358
The hair is often light-colored, brittle, and slow-growing. This condition is db key
also characterized by absent teeth (hypodontia) or teeth that are malformed. MeSH D053359
The teeth that are present are frequently small and pointed. db key
html:p Hypohidrotic ectodermal dysplasia is associated with distinctive facial features MeSH D053360
including a prominent forehead, thick lips, and a flattened bridge of the nose. db key
Additional features of this condition include thin, wrinkled, and dark-colored OMIM 129490
skin around the eyes; chronic skin problems such as eczema; and a bad-smelling db key
discharge from the nose (ozena). OMIM 224900
db key
OMIM 305100
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Orphanet 181
db key
Orphanet 248
db key
Orphanet 1810
db key
SNOMED CT 239007005
db key
SNOMED CT 27025001
db key
related-gene-list SNOMED CT 7731005
Hypokalemic periodic paralysis, HOKPP https://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis Although its exact prevalence is unknown, hypokalemic periodic paralysis is html:p Hypokalemic periodic paralysis is a condition that causes episodes of extreme ad autosomal dominant CACNA1S https://ghr.nlm.nih.gov/gene/CACNA1S Familial Hypokalemic Periodic Paralysis db key 2017-10 2017-12-29
低血鉀週期性麻痹症 estimated to affect 1 in 100,000 people. Men tend to experience symptoms of muscle weakness typically beginning in childhood or adolescence. Most often, related-gene gene-symbol ghr-page HOKPP GTR C0238358
this condition more often than women. these episodes involve a temporary inability to move muscles in the arms and SCN4A https://ghr.nlm.nih.gov/gene/SCN4A HypoKPP db key
legs. Attacks cause severe weakness or paralysis that usually lasts from hours HypoPP GTR C2750061
to days. Some people may have episodes almost every day, while others Primary Hypokalemic Periodic Paralysis db key
experience them weekly, monthly, or only rarely. Attacks can occur without Westphall disease GTR C3714580
warning or can be triggered by factors such as rest after exercise, a viral db key
illness, or certain medications. Often, a large, carbohydrate-rich meal or GeneReviews hpp
vigorous exercise in the evening can trigger an attack upon waking the following db key
morning. Although affected individuals usually regain their muscle strength ICD-10-CM G72.3
between attacks, repeated episodes can lead to persistent muscle weakness later db key
in life. MeSH D020514
html:p People with hypokalemic periodic paralysis have reduced levels of potassium in db key
their blood (hypokalemia) during episodes of muscle weakness. Researchers are OMIM 170400
investigating how low potassium levels may be related to the muscle db key
abnormalities in this condition. Orphanet 681
db key
related-gene-list SNOMED CT 82732003
Hypomagnesemia with secondary hypocalcemia https://ghr.nlm.nih.gov/condition/hypomagnesemia-with-secondary-hypocalcemia Hypomagnesemia with secondary hypocalcemia is thought to be a rare html:p Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by ar autosomal recessive TRPM6 https://ghr.nlm.nih.gov/gene/TRPM6 familial primary hypomagnesemia with hypocalcuria db key 2015-01 2017-12-29
condition, but its prevalence is unknown. the body's inability to absorb and retain magnesium that is taken in through the HOMG GTR C1865974
diet. As a result, magnesium levels in the blood are severely low HSH db key
(hypomagnesemia). hypomagnesemic tetany MeSH D006996
html:p Hypomagnesemia impairs the function of the parathyroid glands, which are small intestinal hypomagnesemia 1 db key
hormone-producing glands located in the neck. Normally, the parathyroid glands intestinal hypomagnesemia with secondary hypocalcemia OMIM 602014
release a hormone that increases blood calcium levels when they are low. db key
Magnesium is required for the production and release of parathyroid hormone, so Orphanet 30924
when magnesium is too low, insufficient parathyroid hormone is produced and db key
blood calcium levels are also reduced (hypocalcemia). The hypocalcemia is SNOMED CT 711151004
described as "secondary" because it occurs as a consequence of hypomagnesemia.
html:p Shortages of magnesium and calcium can cause neurological problems that begin in
infancy, including painful muscle spasms (tetany) and seizures. If left
untreated, hypomagnesemia with secondary hypocalcemia can lead to developmental
delay, intellectual disability, a failure to gain weight and grow at the
expected rate (failure to thrive), and heart failure.
related-gene-list
Hypomyelination and congenital cataract https://ghr.nlm.nih.gov/condition/hypomyelination-and-congenital-cataract The prevalence of hypomyelination and congenital cataract is unknown. html:p Hypomyelination and congenital cataract is an inherited condition that affects ar autosomal recessive FAM126A https://ghr.nlm.nih.gov/gene/FAM126A HCC db key 2009-07 2017-12-29
the nervous system and the eyes. This disease is one of a group of genetic GTR C1864663
disorders called leukoencephalopathies. Leukoencephalopathies involve db key
abnormalities of the brain's white matter. White matter consists of nerve fibers GeneReviews hypo-mcc
covered by a fatty substance called myelin. Myelin insulates nerve fibers and db key
promotes the rapid transmission of nerve impulses. Hypomyelination and MeSH D020279
congenital cataract is caused by a reduced ability to form myelin db key
(hypomyelination). Additionally, people with this disorder are typically born OMIM 610532
with a clouding of the lens (cataract) in both eyes. db key
html:p People with this condition usually have normal development throughout the first Orphanet 85163
year of life. Development slows around the age of 1. Most affected children db key
learn to walk between the ages of 1 and 2, although they usually need some type SNOMED CT 702379005
of support. Over time they experience muscle weakness and wasting (atrophy) in
their legs, and many affected people eventually require wheelchair assistance.
Weakness in the muscles of the trunk and a progressive abnormal curvature of the
spine (scoliosis) further impair walking in some individuals. Most people with
hypomyelination and congenital cataract have reduced sensation in their arms
and legs (peripheral neuropathy). In addition, affected individuals typically
have speech difficulties (dysarthria) and mild to moderate intellectual
disability.
related-gene-list
Hypophosphatasia https://ghr.nlm.nih.gov/condition/hypophosphatasia Severe forms of hypophosphatasia affect an estimated 1 in 100,000 newborns. html:p Hypophosphatasia is an inherited disorder that affects the development of bones ad autosomal dominant ALPL https://ghr.nlm.nih.gov/gene/ALPL Deficiency of alkaline phosphatase db key 2007-09 2017-12-29
低磷酸酯酶症 Milder cases, such as those that appear in childhood or adulthood, probably and teeth. This condition disrupts a process called mineralization, in which code memo Phosphoethanolaminuria GTR C0020630
occur more frequently.Hypophosphatasia has been reported worldwide in people of minerals such as calcium and phosphorus are deposited in developing bones and ar autosomal recessive db key
various ethnic backgrounds. This condition appears to be most common in white teeth. Mineralization is critical for the formation of bones that are strong GTR C0220743
populations. It is particularly frequent in a Mennonite population in Manitoba, and rigid and teeth that can withstand chewing and grinding. db key
Canada, where about 1 in 2,500 infants is born with severe features of the html:p The signs and symptoms of hypophosphatasia vary widely and can appear anywhere GTR C0268412
condition. from before birth to adulthood. The most severe forms of the disorder tend to db key
occur before birth and in early infancy. Hypophosphatasia weakens and softens GTR C0268413
the bones, causing skeletal abnormalities similar to another childhood bone db key
disorder called rickets. Affected infants are born with short limbs, an GeneReviews hops
abnormally shaped chest, and soft skull bones. Additional complications in db key
infancy include poor feeding and a failure to gain weight, respiratory problems, MeSH D007014
and high levels of calcium in the blood (hypercalcemia), which can lead to db key
recurrent vomiting and kidney problems. These complications are OMIM 146300
life-threatening in some cases. db key
html:p The forms of hypophosphatasia that appear in childhood or adulthood are OMIM 241500
typically less severe than those that appear in infancy. Early loss of primary db key
(baby) teeth is one of the first signs of the condition in children. Affected OMIM 241510
children may have short stature with bowed legs or knock knees, enlarged wrist db key
and ankle joints, and an abnormal skull shape. Adult forms of hypophosphatasia Orphanet 436
are characterized by a softening of the bones known as osteomalacia. In adults, db key
recurrent fractures in the foot and thigh bones can lead to chronic pain. SNOMED CT 190859005
Affected adults may lose their secondary (adult) teeth prematurely and are at db key
increased risk for joint pain and inflammation. SNOMED CT 20756002
html:p The mildest form of this condition, called odontohypophosphatasia, only affects db key
the teeth. People with this disorder typically experience abnormal tooth SNOMED CT 30174008
development and premature tooth loss, but do not have the skeletal abnormalities db key
seen in other forms of hypophosphatasia. SNOMED CT 360792001
Hypophosphatemic Rickets
低磷酸鹽佝僂症
db key
Hypothalamic dysfunction Syndrome
下視丘功能障礙症候群
related-gene-list SNOMED CT 55236002
Hystrix-like ichthyosis with deafness https://ghr.nlm.nih.gov/condition/hystrix-like-ichthyosis-with-deafness HID is a rare disorder. Its prevalence is unknown. html:p Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, ad autosomal dominant GJB2 https://ghr.nlm.nih.gov/gene/GJB2 HID syndrome db key 2012-11 2017-12-29
scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like ichthyosis, hystrix-like, with deafness GTR C1865234
means resembling a porcupine; in this type of ichthyosis, the scales may be db key
thick and spiky, giving the appearance of porcupine quills. MeSH D007057
html:p Newborns with HID typically develop reddened skin. The skin abnormalities worsen db key
over time, and the ichthyosis eventually covers most of the body, although the OMIM 602540
palms of the hands and soles of the feet are usually only mildly affected. db key
Breaks in the skin may occur and in severe cases can lead to life-threatening Orphanet 477
infections. Affected individuals have an increased risk of developing a type of db key
skin cancer called squamous cell carcinoma, which can also affect mucous SNOMED CT 254173004
membranes such as the inner lining of the mouth. People with HID may also have
patchy hair loss caused by scarring on particular areas of skin.
related-gene-list
Ichthyosis with confetti https://ghr.nlm.nih.gov/condition/ichthyosis-with-confetti Ichthyosis with confetti is a rare disorder. Fewer than 20 affected html:p Ichthyosis with confetti is a disorder of the skin. Individuals with this ad autosomal dominant KRT10 https://ghr.nlm.nih.gov/gene/KRT10 congenital reticular ichthyosiform erythroderma db key 2014-02 2017-12-29
魚鱗病與五彩紙屑 individuals have been described in the medical literature. condition are born with red, scaly skin all over the body, which can be itchy in CRIE GTR C1836681
some people. In childhood or adolescence, hundreds to thousands of small ichthyosis variegata db key
patches of normal skin appear, usually on the torso. The numerous pale spots IWC MeSH D016113
surrounded by red skin look like confetti, giving the condition its name. The db key
patches of normal skin increase in number and size over time. OMIM 609165
html:p In addition to red, scaly skin, people with ichthyosis with confetti typically db key
have abnormally thick skin on the palms of the hands and soles of the feet Orphanet 281190
(palmoplantar keratoderma). Many affected individuals have excess hair db key
(hirsutism) on some parts of the body, particularly on the arms and legs. SNOMED CT 703504006
Because of their skin abnormalities, people with ichthyosis with confetti are at
increased risk of developing skin infections.
related-gene-list
Idiopathic infantile hypercalcemia https://ghr.nlm.nih.gov/condition/idiopathic-infantile-hypercalcemia Infantile hypercalcemia 1 and 2 are thought to be rare conditions, although html:p Idiopathic infantile hypercalcemia is a condition characterized by high levels ar autosomal recessive CYP24A1 https://ghr.nlm.nih.gov/gene/CYP24A1 autosomal recessive infantile hypercalcemia db key 2017-12 2017-12-29
特發性嬰兒高鈣血症 their prevalence is unknown. of calcium in the blood (hypercalcemia). Two types of idiopathic infantile related-gene gene-symbol ghr-page IIH GTR CN203398
hypercalcemia have been identified and are distinguished by their genetic SLC34A1 https://ghr.nlm.nih.gov/gene/SLC34A1 vitamin D hypersensitivity db key
causes: infantile hypercalcemia 1 and infantile hypercalcemia 2. In infants with MeSH D006934
either type, hypercalcemia can cause vomiting, increased urine production db key
(polyuria), dehydration, constipation, poor feeding, weight loss, and an OMIM 143880
inability to grow and gain weight as expected (failure to thrive). As they age, db key
affected babies usually have delayed development of mental and movement OMIM 616963
abilities (psychomotor delay). Individuals with infantile hypercalcemia 1 or 2 db key
may also have high levels of calcium in their urine (hypercalciuria) and Orphanet 300547
deposits of calcium in their kidneys (nephrocalcinosis). db key
html:p With treatment, the outward symptoms of hypercalcemia, such as vomiting, SNOMED CT 276645004
dehydration, failure to thrive, and psychomotor delay, usually improve in db key
childhood. However, affected children still tend to have higher-than-normal SNOMED CT 34225008
amounts of calcium in their blood and urine and calcium deposits in their
kidneys. By adulthood, long-term hypercalcemia and hypercalciuria can lead to
the formation of kidney stones (nephrolithiasis) and may damage the kidneys and
impair their function. Affected adults may also develop calcium deposits in the
joints or in the clear outer covering of the eye (the cornea), and some have low
bone mineral density (osteoporosis).
html:p In rare cases, affected individuals do not have symptoms of hypercalcemia in
infancy, and the condition begins in later childhood or adulthood. These
individuals usually develop hypercalciuria, nephrocalcinosis, and
nephrolithiasis, although the features may not cause any obvious health
problems.
html:p Although most signs and symptoms are similar between the two known types of
idiopathic infantile hypercalcemia, individuals with infantile hypercalcemia 2
have low levels of a mineral called phosphate in the blood (hypophosphatemia),
while phosphate levels are typically normal in people with infantile
hypercalcemia 1.
related-gene-list
Idiopathic inflammatory myopathy https://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy The incidence of idiopathic inflammatory myopathy is approximately 2 to 8 html:p Idiopathic inflammatory myopathy is a group of disorders characterized by u pattern unknown HLA-DQA1 https://ghr.nlm.nih.gov/gene/HLA-DQA1 idiopathic inflammatory myopathies db key 2011-02 2017-12-29
突發性炎性肌病 cases per million people each year.For unknown reasons, polymyositis and inflammation of the muscles used for movement (skeletal muscles). Idiopathic related-gene gene-symbol ghr-page idiopathic inflammatory myositis GTR C0027121
dermatomyositis are about twice as common in women as in men, while sporadic inflammatory myopathy usually appears in adults between ages 40 and 60 or in HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 inflammatory myopathy, idiopathic db key
inclusion body myositis is more common in men. children between ages 5 and 15, though it can occur at any age. related-gene gene-symbol ghr-page GTR C0238190
html:p The primary symptom of idiopathic inflammatory myopathy is muscle weakness, IL1A https://ghr.nlm.nih.gov/gene/IL1A db key
which develops gradually over a period of weeks to months or even years. Other related-gene gene-symbol ghr-page MeSH D009220
symptoms include joint pain and general tiredness (fatigue). PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
html:p There are several forms of idiopathic inflammatory myopathy, including related-gene gene-symbol ghr-page OMIM 147421
polymyositis, dermatomyositis, and sporadic inclusion body myositis. TNF https://ghr.nlm.nih.gov/gene/TNF db key
html:p Polymyositis and dermatomyositis involve weakness of the muscles closest to the OMIM 160750
center of the body (proximal muscles), such as the muscles of the hips and db key
thighs, upper arms, and neck. People with these forms of idiopathic inflammatory Orphanet 221
myopathy may find it difficult to climb stairs, get up from a seated position, db key
or lift items above their head. In some cases, muscle weakness may make Orphanet 611
swallowing or breathing difficult. db key
html:p Polymyositis and dermatomyositis have similar symptoms, but dermatomyositis is Orphanet 732
distinguished by a reddish or purplish rash on the eyelids, elbows, knees, or db key
knuckles. Sometimes, abnormal calcium deposits form hard, painful bumps under SNOMED CT 702380008
the skin (calcinosis).
html:p In sporadic inclusion body myositis, the muscles most affected are those of the
wrists and fingers and the front of the thigh. Affected individuals may
frequently stumble while walking and find it difficult to grasp items. As in
dermatomyositis and polymyositis, swallowing can be difficult.
related-gene-list
Idiopathic pulmonary fibrosis https://ghr.nlm.nih.gov/condition/idiopathic-pulmonary-fibrosis Idiopathic pulmonary fibrosis has an estimated prevalence of 13 to 20 per html:p Idiopathic pulmonary fibrosis is a chronic, progressive lung disease. This ad autosomal dominant ELMOD2 https://ghr.nlm.nih.gov/gene/ELMOD2 cryptogenic fibrosing alveolitis db key 2015-04 2017-12-29
突發性肺纖維化 100,000 people worldwide. About 100,000 people are affected in the United condition causes scar tissue (fibrosis) to build up in the lungs, which makes related-gene gene-symbol ghr-page idiopathic fibrosing alveolitis, chronic form GTR C1800706
States, and 30,000 to 40,000 new cases are diagnosed each year.Familial the lungs unable to transport oxygen into the bloodstream effectively. The MICA https://ghr.nlm.nih.gov/gene/MICA IPF db key
pulmonary fibrosis is less common than the sporadic form of the disease. Only a disease usually affects people between the ages of 50 and 70. related-gene gene-symbol ghr-page usual interstitial pneumonia GeneReviews pf
small percentage of cases of idiopathic pulmonary fibrosis appear to run in html:p The most common signs and symptoms of idiopathic pulmonary fibrosis are MUC5B https://ghr.nlm.nih.gov/gene/MUC5B db key
families. shortness of breath and a persistent dry, hacking cough. Many affected related-gene gene-symbol ghr-page ICD-10-CM J84.10
individuals also experience a loss of appetite and gradual weight loss. Some SFTPA1 https://ghr.nlm.nih.gov/gene/SFTPA1 db key
people with idiopathic pulmonary fibrosis develop widened and rounded tips of related-gene gene-symbol ghr-page ICD-10-CM J84.11
the fingers and toes (clubbing) resulting from a shortage of oxygen. These SFTPA2 https://ghr.nlm.nih.gov/gene/SFTPA2 db key
features are relatively nonspecific; not everyone with these health problems has related-gene gene-symbol ghr-page ICD-10-CM J84.111
idiopathic pulmonary fibrosis. Other respiratory diseases, some of which are SFTPC https://ghr.nlm.nih.gov/gene/SFTPC db key
less serious, can cause similar signs and symptoms. related-gene gene-symbol ghr-page ICD-10-CM J84.112
html:p In people with idiopathic pulmonary fibrosis, scarring of the lungs increases TERC https://ghr.nlm.nih.gov/gene/TERC db key
over time until the lungs can no longer provide enough oxygen to the body's related-gene gene-symbol ghr-page ICD-10-CM J84.113
organs and tissues. Some people with idiopathic pulmonary fibrosis develop other TERT https://ghr.nlm.nih.gov/gene/TERT db key
serious lung conditions, including lung cancer, blood clots in the lungs ICD-10-CM J84.114
(pulmonary emboli), pneumonia, or high blood pressure in the blood vessels that db key
supply the lungs (pulmonary hypertension). Most affected individuals survive 3 ICD-10-CM J84.115
to 5 years after their diagnosis. However, the course of the disease is highly db key
variable; some affected people become seriously ill within a few months, while ICD-10-CM J84.116
others may live with the disease for a decade or longer. db key
html:p In most cases, idiopathic pulmonary fibrosis occurs in only one person in a ICD-10-CM J84.117
family. These cases are described as sporadic. However, a small percentage of db key
people with this disease have at least one other affected family member. When MeSH D054990
idiopathic pulmonary fibrosis occurs in multiple members of the same family, it db key
is known as familial pulmonary fibrosis. OMIM 178500
db key
Orphanet 2032
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SNOMED CT 426437004
db key
related-gene-list SNOMED CT 700250006
Imerslund-Gräsbeck syndrome https://ghr.nlm.nih.gov/condition/imerslund-grasbeck-syndrome Imerslund-Gräsbeck syndrome is a rare condition that was first described in html:p Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 ar autosomal recessive AMN https://ghr.nlm.nih.gov/gene/AMN defect of enterocyte intrinsic factor receptor db key 2014-04 2017-12-29
(Blood) Finland and Norway; in these regions, the condition is estimated to affect 1 in (also known as cobalamin). The primary feature of this condition is a blood related-gene gene-symbol ghr-page enterocyte cobalamin malabsorption GTR C4016819
200,000 people. The condition has also been reported in other countries disorder called megaloblastic anemia. In this form of anemia, which is a CUBN https://ghr.nlm.nih.gov/gene/CUBN Imerslund-Grasbeck syndrome db key
worldwide; its prevalence in these countries is unknown. disorder characterized by the shortage of red blood cells, the red cells that juvenile pernicious anemia with proteinuria due to selective intestinal GTR C4016948
are present are abnormally large. About half of people with Imerslund-Gräsbeck malabsorption of vitamin B12 db key
syndrome also have high levels of protein in their urine (proteinuria). Although megaloblastic anemia 1 MeSH D000749
proteinuria can be an indication of kidney problems, people with db key
Imerslund-Gräsbeck syndrome appear to have normal kidney function. OMIM 261100
html:p Imerslund-Gräsbeck syndrome typically begins in infancy or early childhood. The db key
blood abnormality leads to many of the signs and symptoms of the condition, Orphanet 35858
including an inability to grow and gain weight at the expected rate (failure to db key
thrive), pale skin (pallor), excessive tiredness (fatigue), and recurring SNOMED CT 26333003
gastrointestinal or respiratory infections. Other features of Imerslund-Gräsbeck
syndrome include mild neurological problems, such as weak muscle tone
(hypotonia), numbness or tingling in the hands or feet, movement problems,
delayed development, or confusion. Rarely, affected individuals have
abnormalities of organs or tissues that make up the urinary tract, such as the
bladder or the tubes that carry fluid from the kidneys to the bladder (the
ureters).
related-gene-list
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-entero IPEX syndrome is a rare disorder that affects an estimated 1 in 1.6 million html:p Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome xr X-linked recessive FOXP3 https://ghr.nlm.nih.gov/gene/FOXP3 autoimmunity-immunodeficiency syndrome, X-linked db key 2017-05 2017-12-29
IPEX syndrome pathy-x-linked-syndrome people. primarily affects males and is caused by problems with the immune system. The diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea GTR C0342288
IPEX 综合症 immune system normally protects the body from foreign invaders, such as bacteria diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked db key
and viruses, by recognizing and attacking these invaders and clearing them from enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy GeneReviews ipex
the body. However, the immune system can malfunction and attack the body's own IDDM-secretory diarrhea syndrome db key
tissues and organs instead, which is known as autoimmunity. IPEX syndrome is immunodeficiency, polyendocrinopathy, and enteropathy, X-linked MeSH D040181
characterized by the development of multiple autoimmune disorders in affected insulin-dependent diabetes mellitus secretory diarrhea syndrome db key
individuals. Although IPEX syndrome can affect many different areas of the body, IPEX syndrome OMIM 304790
autoimmune disorders involving the intestines, skin, and hormone-producing polyendocrinopathy, immune dysfunction, and diarrhea, X-linked db key
(endocrine) glands occur most often. IPEX syndrome can be life-threatening in X-linked autoimmunity-allergic dysregulation syndrome Orphanet 37042
early childhood. XLAAD db key
html:p Almost all individuals with IPEX syndrome develop a disorder of the intestines SNOMED CT 237618001
called autoimmune enteropathy. Autoimmune enteropathy occurs when certain cells
in the intestines are destroyed by a person's immune system. It causes severe
diarrhea, which is usually the first symptom of IPEX syndrome. Autoimmune
enteropathy typically begins in the first few months of life. It can cause
failure to gain weight and grow at the expected rate (failure to thrive) and
general wasting and weight loss (cachexia).
html:p People with IPEX syndrome frequently develop inflammation of the skin, called
dermatitis. Eczema is the most common type of dermatitis that occurs in this
syndrome, and it causes abnormal patches of red, irritated skin. Other skin
disorders that cause similar symptoms are sometimes present in IPEX syndrome.
html:p The term polyendocrinopathy is used in IPEX syndrome because individuals can
develop multiple disorders of the endocrine glands. Type 1 diabetes mellitus is
an autoimmune condition involving the pancreas and is the most common endocrine
disorder present in people with IPEX syndrome. It usually develops within the
first few months of life and prevents the body from properly controlling the
amount of sugar in the blood. Autoimmune thyroid disease may also develop in
people with IPEX syndrome. The thyroid gland is a butterfly-shaped organ in the
lower neck that produces hormones. This gland is commonly underactive
(hypothyroidism) in individuals with this disorder, but may become overactive
(hyperthyroidism).
html:p Individuals with IPEX syndrome typically develop other types of autoimmune
disorders in addition to those that involve the intestines, skin, and endocrine
glands. Autoimmune blood disorders are common; about half of affected
individuals have low levels of red blood cells (anemia), platelets
(thrombocytopenia), or certain white blood cells (neutropenia) because these
cells are attacked by the immune system. In some individuals, IPEX syndrome
involves the liver and kidneys.
synonym-list db-key-list
Immune thrombocytopenia https://ghr.nlm.nih.gov/condition/immune-thrombocytopenia The incidence of immune thrombocytopenia is approximately 4 per 100,000 html:p Immune thrombocytopenia is a disorder characterized by a blood abnormality u pattern unknown synonym autoimmune thrombocytopenic purpura key 2017-12-29
免疫性血小板減少症 children and 3 per 100,000 adults. In adults with immune thrombocytopenia, women called thrombocytopenia, which is a shortage of blood cell fragments called synonym idiopathic thrombocytopenic purpura db-key C0398650
are affected more often than men.It is likely that this condition is platelets that are needed for normal blood clotting. synonym immune thrombocytopenic purpura key
underdiagnosed because those with mild signs and symptoms often do not seek html:p Affected individuals can develop red or purple spots on the skin caused by synonym ITP db-key D69.3
medical attention. bleeding just under the skin's surface. Small spots of bleeding under the skin synonym Werlhof disease key
are called purpura and larger spots are called ecchymoses. People with immune db-key D016553
thrombocytopenia can have significant bleeding episodes, such as nose bleeds key
(epistaxis) or bleeding in the moist lining (mucosae) of the mouth. In severe db-key 188030
cases, individuals may have gastrointestinal bleeding or blood in the urine or key
stool, or heavy and prolonged menstrual bleeding (menorrhagia). In very rare db-key 3002
instances, bleeding inside the skull (intracranial hemorrhage) can occur, which key
can be life-threatening. A greater reduction in platelet numbers is often db-key 234490009
associated with more frequent bleeding episodes and an increased risk of severe key
bleeding. 2897005
html:p While immune thrombocytopenia can be diagnosed at any age, there are two periods
when the condition is most likely to develop: early childhood and late
adulthood. In children, the reduction in platelets is often sudden, but platelet
levels usually return to normal levels within weeks to months. Immune
thrombocytopenia in children is often preceded by a minor infection, such as an
upper respiratory infection, but the relationship between the infection and
immune thrombocytopenia is not clear. In adults, the development of immune
thrombocytopenia is usually gradual and the condition tends to persist
throughout life.
related-gene-list
Inclusion body myopathy 2 https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2 More than 200 people with inclusion body myopathy 2 have been reported. html:p Inclusion body myopathy 2 is a condition that primarily affects skeletal ar autosomal recessive GNE https://ghr.nlm.nih.gov/gene/GNE Distal myopathy with rimmed vacuoles db key 2008-12 2017-12-29
包涵體肌炎 Most are of Iranian Jewish descent; the condition affects an estimated 1 in muscles, which are muscles that the body uses for movement. This disorder causes DMRV GTR C1833373
1,500 people in this population. Additionally, at least 15 people in the muscle weakness that appears in late adolescence or early adulthood and Hereditary inclusion body myopathy db key
Japanese population have been diagnosed with this disorder. Inclusion body worsens over time. HIBM GTR C1853926
myopathy 2 has also been found in several other ethnic groups worldwide. html:p The first sign of inclusion body myopathy 2 is weakness of a muscle in the lower IBM2 db key
leg called the tibialis anterior. This muscle helps control up-and-down Inclusion body myopathy, autosomal recessive GeneReviews ibm
movement of the foot. Weakness in the tibialis anterior alters the way a person Inclusion body myopathy, quadriceps-sparing db key
walks and makes it difficult to run and climb stairs. As the disorder Nonaka myopathy MeSH D018979
progresses, weakness also develops in muscles of the upper legs, hips, QSM db key
shoulders, and hands. Unlike most forms of myopathy, inclusion body myopathy 2 Rimmed vacuole myopathy OMIM 605820
usually does not affect the quadriceps, which are a group of large muscles at db key
the front of the thigh. This condition also does not affect muscles of the eye Orphanet 602
or heart, and it does not cause neurological problems. Weakness in leg muscles db key
makes walking increasingly difficult, and most people with inclusion body SNOMED CT 702382000
myopathy 2 require wheelchair assistance within 20 years after signs and
symptoms appear.
html:p People with the characteristic features of inclusion body myopathy 2 have been
described in several different populations. When the condition was first
reported in Japanese families, researchers called it distal myopathy with rimmed
vacuoles (DMRV) or Nonaka myopathy. When a similar disorder was discovered in
Iranian Jewish families, researchers called it rimmed vacuole myopathy or
hereditary inclusion body myopathy (HIBM). It has since become clear that these
conditions are variations of a single disorder caused by mutations in the same
gene.
related-gene-list
Inclusion body myopathy with early-onset Paget disease and frontotemporal https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-with-early-onset-paget Although the prevalence of IBMPFD is unknown, this condition is rare. It html:p Inclusion body myopathy with early-onset Paget disease and frontotemporal ad autosomal dominant VCP https://ghr.nlm.nih.gov/gene/VCP IBMPFD db key 2008-12 2017-12-29
dementia -disease-and-frontotemporal-dementia has been identified in about 26 families. dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain. Inclusion body myopathy with early-onset Paget disease of bone and/or GTR C1833662
html:p The first symptom of IBMPFD is often muscle weakness (myopathy), which typically frontotemporal dementia db key
appears in mid-adulthood. Weakness first occurs in muscles of the hips and Inclusion body myopathy with Paget disease of bone and/or frontotemporal GeneReviews ibmpfd
shoulders, making it difficult to climb stairs and raise the arms above the dementia db key
shoulders. As the disorder progresses, weakness develops in other muscles in Lower motor neuron degeneration with Paget-like bone disease MeSH D010001
the arms and legs. Muscle weakness can also affect respiratory and heart Muscular dystrophy, limb-girdle, with Paget disease of bone db key
(cardiac) muscles, leading to life-threatening breathing difficulties and heart Pagetoid amyotrophic lateral sclerosis MeSH D018979
failure. Pagetoid neuroskeletal syndrome db key
html:p About half of all adults with IBMPFD develop a disorder called Paget disease of MeSH D057180
bone. This disorder most often affects bones of the hips, spine, and skull, and db key
the long bones of the arms and legs. Bone pain, particularly in the hips and OMIM 167320
spine, is usually the major symptom of Paget disease. Rarely, this condition db key
can weaken bones so much that they break (fracture). Orphanet 52430
html:p In about one-third of people with IBMPFD, the disorder also affects the brain. db key
IBMPFD is associated with a brain condition called frontotemporal dementia, SNOMED CT 703544004
which becomes noticeable in a person's forties or fifties. Frontotemporal
dementia progressively damages parts of the brain that control reasoning,
personality, social skills, speech, and language. People with this condition
initially may have trouble speaking, remembering words and names (dysnomia), and
using numbers (dyscalculia). Personality changes, a loss of judgment, and
inappropriate social behavior are also hallmarks of the disease. As the
dementia worsens, affected people ultimately become unable to speak, read, or
care for themselves.
html:p People with IBMPFD usually live into their fifties or sixties.
related-gene-list
Incontinentia pigmenti https://ghr.nlm.nih.gov/condition/incontinentia-pigmenti Incontinentia pigmenti is an uncommon disorder. Between 900 and 1,200 html:p Incontinentia pigmenti is a condition that can affect many body systems, xd X-linked dominant IKBKG https://ghr.nlm.nih.gov/gene/IKBKG Bloch-Siemens-Sulzberger Syndrome db key 2008-06 2017-12-29
色素失調症 affected individuals have been reported in the scientific literature. Most of particularly the skin. This condition occurs much more often in females than in Bloch-Siemens syndrome GTR C0021171
these individuals are female, but several dozen males with incontinentia males. Bloch-Sulzberger Syndrome db key
pigmenti have also been identified. html:p Incontinentia pigmenti is characterized by skin abnormalities that evolve IP GeneReviews i-p
throughout childhood and young adulthood. Many affected infants have a db key
blistering rash at birth and in early infancy, which heals and is followed by ICD-10-CM Q82.3
the development of wart-like skin growths. In early childhood, the skin db key
develops grey or brown patches (hyperpigmentation) that occur in a swirled MeSH D007184
pattern. These patches fade with time, and adults with incontinentia pigmenti db key
usually have lines of unusually light-colored skin (hypopigmentation) on their OMIM 308300
arms and legs. db key
html:p Other signs and symptoms of incontinentia pigmenti can include hair loss Orphanet 464
(alopecia) affecting the scalp and other parts of the body, dental abnormalities db key
(such as small teeth or few teeth), eye abnormalities that can lead to vision SNOMED CT 367520004
loss, and lined or pitted fingernails and toenails. Most people with
incontinentia pigmenti have normal intelligence; however, this condition may
affect the brain. Associated problems can include delayed development or
intellectual disability, seizures, and other neurological problems.
related-gene-list
Infantile neuroaxonal dystrophy https://ghr.nlm.nih.gov/condition/infantile-neuroaxonal-dystrophy Infantile neuroaxonal dystrophy is a very rare disorder. Its specific html:p Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous ar autosomal recessive PLA2G6 https://ghr.nlm.nih.gov/gene/PLA2G6 INAD db key 2012-09 2017-12-29
嬰兒神經軸索營養不良 incidence is unknown. system. Individuals with infantile neuroaxonal dystrophy typically do not have NBIA, PLA2G6-related GTR C0270724
any symptoms at birth, but between the ages of about 6 and 18 months they begin neurodegeneration with brain iron accumulation, PLA2G6-related db key
to experience delays in acquiring new motor and intellectual skills, such as Seitelberger disease GeneReviews inad
crawling or beginning to speak. Eventually they lose previously acquired skills Seitelberger's disease db key
(developmental regression). In some cases, signs and symptoms of infantile MeSH D019150
neuroaxonal dystrophy first appear later in childhood or during the teenage db key
years and progress more slowly. OMIM 256600
html:p Children with infantile neuroaxonal dystrophy experience progressive db key
difficulties with movement. They generally have muscles that are at first weak Orphanet 35069
and "floppy" (hypotonic), and then gradually become very stiff (spastic). db key
Eventually, affected children lose the ability to move independently. Lack of SNOMED CT 230365004
muscle strength causes difficulty with feeding. Muscle weakness can also result db key
in breathing problems that can lead to frequent infections, such as pneumonia. SNOMED CT 52713000
Seizures occur in some affected children.
html:p Rapid, involuntary eye movements (nystagmus), eyes that do not look in the same
direction (strabismus), and vision loss due to deterioration (atrophy) of the
nerve that carries information from the eye to the brain (the optic nerve) often
occur in infantile neuroaxonal dystrophy. Hearing loss may also develop.
Children with this disorder experience progressive deterioration of cognitive
functions (dementia), and they eventually lose awareness of their surroundings.
html:p Infantile neuroaxonal dystrophy is characterized by the development of swellings
called spheroid bodies in the axons, the fibers that extend from nerve cells
(neurons) and transmit impulses to muscles and other neurons. In some
individuals with infantile neuroaxonal dystrophy, abnormal amounts of iron
accumulate in a specific region of the brain called the basal ganglia. The
relationship of these features to the symptoms of infantile neuroaxonal
dystrophy is unknown.
related-gene-list
Infantile-onset ascending hereditary spastic paralysis https://ghr.nlm.nih.gov/condition/infantile-onset-ascending-hereditary-spastic-p Infantile-onset ascending hereditary spastic paralysis is a rare disorder, html:p Infantile-onset ascending hereditary spastic paralysis is one of a group of ar autosomal recessive ALS2 https://ghr.nlm.nih.gov/gene/ALS2 IAHSP db key 2016-04 2017-12-29
嬰兒發病遺傳性痙攣性癱瘓 aralysis with at least 30 cases reported in the scientific literature. genetic disorders known as hereditary spastic paraplegias. These disorders are infantile-onset ascending hereditary spastic paraplegia GTR C1846588
characterized by progressive muscle stiffness (spasticity) and eventual infantile onset ascending spastic paralysis db key
paralysis of the lower limbs (paraplegia). The spasticity and paraplegia result GeneReviews iahsp
from degeneration (atrophy) of motor neurons, which are specialized nerve cells db key
in the brain and spinal cord that control muscle movement. Hereditary spastic MeSH D010264
paraplegias are divided into two types: pure and complicated. The pure types db key
involve only the lower limbs, while the complicated types involve additional MeSH D015419
areas of the nervous system, affecting the upper limbs and other areas of the db key
body. Infantile-onset ascending hereditary spastic paralysis starts as a pure OMIM 607225
hereditary spastic paraplegia, with spasticity and weakness in the legs only, db key
but as the disorder progresses, the muscles in the arms, neck, and head become Orphanet 293168
involved and features of the disorder are more characteristic of the complicated db key
type. SNOMED CT 703543005
html:p Affected infants are typically normal at birth, then within the first 2 years of
life, the initial symptoms of infantile-onset ascending hereditary spastic
paralysis appear. Early symptoms include exaggerated reflexes (hyperreflexia)
and recurrent muscle spasms in the legs. As the condition progresses, affected
children develop abnormal tightness and stiffness in the leg muscles and
weakness in the legs and arms. Over time, muscle weakness and stiffness travels
up (ascends) the body from the legs to the head and neck. Muscles in the head
and neck usually weaken during adolescence; symptoms include slow eye movements
and difficulty with speech and swallowing. Affected individuals may lose the
ability to speak (anarthria). The leg and arm muscle weakness can become so
severe as to lead to paralysis; as a result affected individuals require
wheelchair assistance by late childhood or early adolescence. Intelligence is
not affected in this condition.
html:p A condition called juvenile primary lateral sclerosis shares many of the
features of infantile-onset ascending hereditary spastic paralysis. Both
conditions have the same genetic cause and significantly impair movement
beginning in childhood; however, the pattern of nerve degeneration is different.
Because of their similarities, these conditions are sometimes considered the
same disorder.
related-gene-list
Infantile-onset spinocerebellar ataxia https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia More than 20 individuals with IOSCA have been identified in Finland. A few html:p Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that ar autosomal recessive TWNK https://ghr.nlm.nih.gov/gene/TWNK IOSCA db key 2010-03 2017-12-29
嬰兒發病脊髓小腦性共濟失調 individuals with similar symptoms have been reported elsewhere in Europe. affects the nervous system. Babies with IOSCA develop normally during the first Ohaha syndrome GTR C1849096
year of life. During early childhood, however, they begin experiencing ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis db key
difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); GeneReviews sca-io
involuntary writhing movements of the limbs (athetosis); and decreased reflexes. db key
By their teenage years affected individuals require wheelchair assistance. MeSH D020754
html:p People with IOSCA often develop problems with the autonomic nervous system, db key
which controls involuntary body functions. As a result, they may experience OMIM 271245
excessive sweating, difficulty controlling urination, and severe constipation. db key
html:p IOSCA also leads to vision and hearing problems that begin by about age 7. Orphanet 1186
Children with this disorder develop weakness in the muscles that control eye db key
movement (ophthalmoplegia). In their teenage years they experience degeneration SNOMED CT 129609000
of the nerves that carry information from the eyes to the brain (optic atrophy),
which can result in vision loss. Hearing loss caused by nerve damage
(sensorineural hearing loss) typically occurs during childhood and progresses to
profound deafness.
html:p Individuals with IOSCA may have recurrent seizures (epilepsy). These seizures
can lead to severe brain dysfunction (encephalopathy).
html:p Most people with IOSCA survive into adulthood. However, a few individuals with
IOSCA have an especially severe form of the disorder involving liver damage and
encephalopathy that develops during early childhood. These children do not
generally live past age 5.
related-gene-list
Infantile systemic hyalinosis https://ghr.nlm.nih.gov/condition/infantile-systemic-hyalinosis The prevalence of infantile systemic hyalinosis is unknown. Fewer than 20 html:p Infantile systemic hyalinosis is a disorder that severely affects many areas of ar autosomal recessive ANTXR2 https://ghr.nlm.nih.gov/gene/ANTXR2 inherited systemic hyalinosis db key 2008-12 2017-12-29
婴儿型全身性玻璃样变性 people with this disorder have been reported. the body, including the skin, joints, bones, and internal organs. Hyalinosis GTR C2745948
嬰兒型全身性玻璃樣變性 refers to the abnormal accumulation of a clear (hyaline) substance in body db key
tissues. The signs and symptoms of this condition are present at birth or GeneReviews sys-h
develop within the first few months of life. Infantile systemic hyalinosis is db key
characterized by painful skin bumps that frequently appear on the hands, neck, MeSH D057770
scalp, ears, and nose. They also develop in joint creases and the genital db key
region. These skin bumps may be large or small and often increase in number over OMIM 228600
time. db key
html:p Lumps of noncancerous tissue also form in the muscles and internal organs of Orphanet 2176
children with infantile systemic hyalinosis, causing pain and severe db key
complications. Most affected individuals develop a condition called SNOMED CT 238867003
protein-losing enteropathy due to the formation of lumps in their intestines.
This condition results in severe diarrhea, failure to gain weight and grow at
the expected rate (failure to thrive), and general wasting and weight loss
(cachexia).
html:p Infantile systemic hyalinosis is also characterized by overgrowth of the gums
(gingival hypertrophy). Additionally, people with this condition have joint
deformities (contractures) that impair movement. Affected individuals may grow
slowly and have bone abnormalities.
html:p Although children with infantile systemic hyalinosis have severe physical
limitations, mental development is typically normal. Affected individuals often
do not survive beyond early childhood due to chronic diarrhea and recurrent
infections.
related-gene-list
Inherited thyroxine-binding globulin deficiency https://ghr.nlm.nih.gov/condition/inherited-thyroxine-binding-globulin-deficienc The complete form of inherited thyroxine-binding globulin deficiency, html:p Inherited thyroxine-binding globulin deficiency is a genetic condition that xd X-linked dominant SERPINA7 https://ghr.nlm.nih.gov/gene/SERPINA7 TBG deficiency db key 2009-09 2017-12-29
遺傳性甲状腺素结合球蛋白缺乏症 y TBG-CD, affects about 1 in 15,000 newborns worldwide. The partial form, TBG-PD, typically does not cause any health problems. GTR C1839141
affects about 1 in 4,000 newborns. These conditions appear to be more common in html:p Thyroxine-binding globulin is a protein that carries hormones made or used by db key
the Australian Aborigine population and in the Bedouin population of southern the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid MeSH D013959
Israel. hormones play an important role in regulating growth, brain development, and db key
the rate of chemical reactions in the body (metabolism). Most of the time, OMIM 314200
these hormones circulate in the bloodstream attached to thyroxine-binding db key
globulin and similar proteins. If there is a shortage (deficiency) of SNOMED CT 2241003
thyroxine-binding globulin, the amount of circulating thyroid hormones is db key
reduced. SNOMED CT 41300001
html:p Researchers have identified two forms of inherited thyroxine-binding globulin
deficiency: the complete form (TBG-CD), which results in a total loss of
thyroxine-binding globulin, and the partial form (TBG-PD), which reduces the
amount of this protein or alters its structure. Neither of these conditions
causes any problems with thyroid function. They are usually identified during
routine blood tests that measure thyroid hormones.
html:p Although inherited thyroxine-binding globulin deficiency does not cause any
health problems, it can be mistaken for more serious thyroid disorders (such as
hypothyroidism). Therefore, it is important to diagnose inherited
thyroxine-binding globulin deficiency to avoid unnecessary treatments.
insulin-like growth factor I deficiency
第一型類胰島素生長因子缺乏症
Interferon-γ receptor 1 (IFNGR1) deficiency
丙型干擾素受體1缺陷
related-gene-list
Intervertebral disc disease https://ghr.nlm.nih.gov/condition/intervertebral-disc-disease Intervertebral disc disease is estimated to affect about 5 percent of the html:p Intervertebral disc disease is a common condition characterized by the breakdown u pattern unknown ACAN https://ghr.nlm.nih.gov/gene/ACAN discogenic disease db key 2016-10 2017-12-29
椎间盘突出 population in developed countries each year. Most individuals experience disc (degeneration) of one or more of the discs that separate the bones of the spine related-gene gene-symbol ghr-page discogenic disorder GTR C0158252
degeneration as they age; however, the severity of the degeneration and the pain (vertebrae), causing pain in the back or neck and frequently in the legs and ASPN https://ghr.nlm.nih.gov/gene/ASPN disorder of intervertebral disc db key
associated with it varies. arms. The intervertebral discs provide cushioning between vertebrae and absorb related-gene gene-symbol ghr-page IDD ICD-10-CM M50.3
pressure put on the spine. CILP https://ghr.nlm.nih.gov/gene/CILP intervertebral disc degeneration db key
html:p While the discs in the lower (lumbar) region of the spine are most often related-gene gene-symbol ghr-page intervertebral disc disorder ICD-10-CM M50.9
affected in intervertebral disc disease, any part of the spine can have disc COL1A1 https://ghr.nlm.nih.gov/gene/COL1A1 intervertebral disk degeneration db key
degeneration. Depending on the location of the affected disc or discs, related-gene gene-symbol ghr-page ICD-10-CM M51
intervertebral disc disease can cause periodic or chronic pain in the back or COL9A2 https://ghr.nlm.nih.gov/gene/COL9A2 db key
neck. Pain is often worse when sitting, bending, twisting, or lifting objects. related-gene gene-symbol ghr-page ICD-10-CM M51.3
html:p Degenerated discs are prone to out-pouching (herniation); the protruding disc COL9A3 https://ghr.nlm.nih.gov/gene/COL9A3 db key
can press against one of the spinal nerves that run from the spinal cord to the related-gene gene-symbol ghr-page ICD-10-CM M51.8
rest of the body. This pressure causes pain, weakness, and numbness in the back COL11A1 https://ghr.nlm.nih.gov/gene/COL11A1 db key
and legs. Herniated discs often cause nerve pain called sciatica that travels related-gene gene-symbol ghr-page MeSH D055959
along the sciatic nerve, which runs from the lower back down the length of each IGF1R https://ghr.nlm.nih.gov/gene/IGF1R db key
leg. related-gene gene-symbol ghr-page OMIM 603932
html:p As a disc degenerates, small bony outgrowths (bone spurs) may form at the edges IL1A https://ghr.nlm.nih.gov/gene/IL1A db key
of the affected vertebrae. These bone spurs may pinch (compress) the spinal related-gene gene-symbol ghr-page SNOMED CT 77547008
nerves, leading to weakness or numbness in the arms or legs. If the bone spurs MMP2 https://ghr.nlm.nih.gov/gene/MMP2
compress the spinal cord, affected individuals can develop problems with walking related-gene gene-symbol ghr-page
and bladder and bowel control. Over time, a degenerating disc may break down MMP9 https://ghr.nlm.nih.gov/gene/MMP9
completely and leave no space between vertebrae, which can result in impaired related-gene gene-symbol ghr-page
movement, pain, and nerve damage. THBS2 https://ghr.nlm.nih.gov/gene/THBS2
related-gene gene-symbol ghr-page
VDR https://ghr.nlm.nih.gov/gene/VDR
related-gene-list
Intestinal pseudo-obstruction https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction The overall prevalence of intestinal pseudo-obstruction is unknown. html:p Intestinal pseudo-obstruction is a condition characterized by impairment of the ad autosomal dominant ACTG2 https://ghr.nlm.nih.gov/gene/ACTG2 chronic idiopathic intestinal pseudo-obstruction db key 2017-12 2017-12-29
假性腸梗阻 Researchers in Japan have estimated the prevalence of chronic intestinal muscle contractions that move food through the digestive tract. It can occur at code memo related-gene gene-symbol ghr-page CIIP GTR C1848221
pseudo-obstruction in that country as 9 cases per million people. any time of life, and its symptoms range from mild to severe. The condition may ar autosomal recessive FLNA https://ghr.nlm.nih.gov/gene/FLNA CIPO db key
arise from abnormalities of the gastrointestinal muscles themselves (myogenic) code memo related-gene gene-symbol ghr-page congenital short bowel syndrome GTR C1848586
or from problems with the nerves that control the muscle contractions xr X-linked recessive LMOD1 https://ghr.nlm.nih.gov/gene/LMOD1 enteric neuropathy db key
(neurogenic). related-gene gene-symbol ghr-page familial visceral myopathy GTR C1855732
html:p Intestinal pseudo-obstruction leads to a buildup of partially digested food in MYH11 https://ghr.nlm.nih.gov/gene/MYH11 familial visceral neuropathy db key
the intestines. This buildup can cause abdominal swelling (distention) and pain, related-gene gene-symbol ghr-page IPO GTR C1855733
nausea, vomiting, and constipation or diarrhea. Affected individuals experience MYLK https://ghr.nlm.nih.gov/gene/MYLK paralytic ileus db key
loss of appetite and impaired ability to absorb nutrients, which may lead to related-chromosome name ghr-page pseudo-obstruction of intestine GTR C1864996
malnutrition. These symptoms resemble those of an intestinal blockage X https://ghr.nlm.nih.gov/chromosome/X pseudointestinal obstruction syndrome db key
(obstruction), but in intestinal pseudo-obstruction no blockage is found. pseudoobstructive syndrome GeneReviews actg2-dis
html:p Depending on the cause of intestinal pseudo-obstruction, affected individuals db key
can have additional signs and symptoms. Some people with intestinal ICD-10-CM K56.0
pseudo-obstruction have bladder dysfunction such as an inability to pass urine. db key
Other features may include decreased muscle tone (hypotonia) or stiffness MeSH D007418
(spasticity) of the torso and limbs, weakness in the muscles that control eye db key
movement (ophthalmoplegia), intellectual disability, seizures, unusual facial OMIM 243180
features, or recurrent infections. db key
html:p When intestinal pseudo-obstruction occurs by itself, it is called primary or OMIM 243185
idiopathic intestinal pseudo-obstruction. The disorder can also develop as a db key
complication of another health problem; in these cases, it is called secondary OMIM 277320
intestinal pseudo-obstruction. The condition can be episodic (acute) or db key
persistent (chronic). OMIM 300048
db key
OMIM 609629
db key
SNOMED CT 235825006
db key
SNOMED CT 55525008
db key
related-gene-list SNOMED CT 715201005
Intrahepatic cholestasis of pregnancy https://ghr.nlm.nih.gov/condition/intrahepatic-cholestasis-of-pregnancy Intrahepatic cholestasis of pregnancy is estimated to affect 1 percent of html:p Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in ad autosomal dominant ABCB4 https://ghr.nlm.nih.gov/gene/ABCB4 obstetric cholestasis db key 2015-05 2017-12-29
肝內膽汁淤積症妊娠 women of Northern European ancestry. The condition is more common in certain pregnant women. Cholestasis is a condition that impairs the release of a related-gene gene-symbol ghr-page pregnancy-related cholestasis GTR C0268318
populations, such as women of Araucanian Indian ancestry in Chile or women of digestive fluid called bile from liver cells. As a result, bile builds up in the ABCB11 https://ghr.nlm.nih.gov/gene/ABCB11 recurrent intrahepatic cholestasis of pregnancy db key
Scandinavian ancestry. This condition is found less frequently in other liver, impairing liver function. Because the problems with bile release occur GeneReviews pfic
populations. within the liver (intrahepatic), the condition is described as intrahepatic db key
cholestasis. Intrahepatic cholestasis of pregnancy usually becomes apparent in MeSH D002780
the third trimester of pregnancy. Bile flow returns to normal after delivery of db key
the baby, and the signs and symptoms of the condition disappear. However, they OMIM 147480
can return during later pregnancies. db key
html:p This condition causes severe itchiness (pruritus) in the expectant mother. The Orphanet 69665
itchiness usually begins on the palms of the hands and the soles of the feet and db key
then spreads to other parts of the body. Occasionally, affected women have SNOMED CT 235888006
yellowing of the skin and whites of the eyes (jaundice). Some studies have shown
that women with intrahepatic cholestasis of pregnancy are more likely to
develop gallstones sometime in their life than women who do not have the
condition.
html:p Intrahepatic cholestasis of pregnancy can cause problems for the unborn baby.
This condition is associated with an increased risk of premature delivery and
stillbirth. Additionally, some infants born to mothers with intrahepatic
cholestasis of pregnancy have a slow heart rate and a lack of oxygen during
delivery (fetal distress).
related-gene-list
Intranuclear rod myopathy https://ghr.nlm.nih.gov/condition/intranuclear-rod-myopathy Intranuclear rod myopathy is a rare disorder that has been identified in html:p Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, ad autosomal dominant ACTA1 https://ghr.nlm.nih.gov/gene/ACTA1 intranuclear nemaline rod myopathy db key 2012-04 2017-12-29
核內棒肌病 only a small number of individuals. Its exact prevalence is unknown. which are muscles that the body uses for movement. People with intranuclear rod code memo nemaline myopathy with exclusively intranuclear rods GTR C1834336
intranuclear nemaline rod myopathy myopathy have severe muscle weakness (myopathy) and poor muscle tone n not inherited db key
Nemaline线状肌肉病变 (hypotonia) throughout the body. Signs and symptoms of this condition are MeSH D017696
apparent in infancy and include feeding and swallowing difficulties, a weak cry, db key
and difficulty with controlling head movements. Affected babies are sometimes OMIM 161800
described as "floppy" and may be unable to move on their own. db key
html:p The severe muscle weakness that occurs in intranuclear rod myopathy also affects SNOMED CT 129621001
the muscles used for breathing. Individuals with this disorder may take shallow
breaths (hypoventilate), especially during sleep, resulting in a shortage of
oxygen and a buildup of carbon dioxide in the blood. Frequent respiratory
infections and life-threatening breathing difficulties can occur. Because of the
respiratory problems, most affected individuals do not survive past infancy.
Those who do survive have delayed development of motor skills such as sitting,
crawling, standing, and walking.
html:p The name intranuclear rod myopathy comes from characteristic abnormal rod-shaped
structures that can be seen in the nucleus of muscle cells when muscle tissue
is viewed under a microscope.
related-gene-list
Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia https://ghr.nlm.nih.gov/condition/intrauterine-growth-restriction-metaphyseal-dy IMAGe syndrome is very rare, with only about 20 cases reported in the html:p The combination of intrauterine growth restriction, metaphyseal dysplasia, ad autosomal dominant CDKN1C https://ghr.nlm.nih.gov/gene/CDKN1C IMAGe anomaly db key 2013-04 2017-12-29
congenita, and genital anomalies splasia-adrenal-hypoplasia-congenita-and-genital-anomalies medical literature. The condition has been diagnosed more often in males than in adrenal hypoplasia congenita 先天性腎上腺發育不良, and genital anomalies is commonly known by the IMAGe association GTR C1846009
females, probably because females do not have associated genital abnormalities. acronym IMAGe. This rare syndrome has signs and symptoms that affect many parts IMAGe syndrome db key
of the body. GeneReviews image
html:p Most affected individuals grow slowly before birth (intrauterine growth db key
restriction) and are small in infancy. They have skeletal abnormalities that MeSH D000015
often become apparent in early childhood, although these abnormalities are db key
usually mild and can be difficult to recognize on x-rays. The most common bone OMIM 614732
changes are metaphyseal dysplasia and epiphyseal dysplasia; these are db key
malformations of the ends of long bones in the arms and legs. Some affected Orphanet 85173
individuals also have an abnormal side-to-side curvature of the spine db key
(scoliosis) or thinning of the bones (osteoporosis). SNOMED CT 702384004
html:p Adrenal hypoplasia congenita is the most severe feature of IMAGe syndrome. The
adrenal glands are a pair of small glands on top of each kidney. They produce a
variety of hormones that regulate many essential functions in the body.
Underdevelopment (hypoplasia) of these glands prevents them from producing
enough hormones, a condition known as adrenal insufficiency. The signs of
adrenal insufficiency begin shortly after birth and include vomiting, difficulty
with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock.
If untreated, these complications can be life-threatening.
html:p The genital abnormalities associated with IMAGe syndrome occur only in affected
males. They include an unusually small penis (micropenis), undescended testes
(cryptorchidism), and the opening of the urethra on the underside of the penis
(hypospadias).
html:p Several additional signs and symptoms have been reported in people with IMAGe
syndrome. Some affected individuals have distinctive facial features, such as a
prominent forehead, low-set ears, and a short nose with a flat nasal bridge.
Less commonly, people with this condition have premature fusion of certain bones
of the skull (craniosynostosis), a split in the soft flap of tissue that hangs
from the back of the mouth (cleft or bifid uvula), a high-arched roof of the
mouth (palate), and a small chin (micrognathia). Other possible features of
IMAGe syndrome include high levels of calcium in the blood (hypercalcemia) or
urine (hypercalcuria) and a shortage of growth hormone in childhood that results
in short stature.
inheritance-pattern-list
IRAK-4 deficiency https://ghr.nlm.nih.gov/condition/irak-4-deficiency IRAK-4 deficiency is a very rare condition, although the exact prevalence html:p IRAK-4 deficiency is an inherited disorder of the immune system (primary ar autosomal recessive gene-symbol synonym interleukin-1 receptor-associated kinase 4 deficiency db-key db key 2011-11 2017-12-29
(Immune) is unknown. At least 49 individuals with this condition have been described in immunodeficiency). This immunodeficiency leads to recurrent infections by a IRAK4 synonym IRAK4 deficiency GTR C1843256
the scientific literature. subset of bacteria known as pyogenic bacteria but not by other infectious db-key db key
agents. (Infection with pyogenic bacteria causes the production of pus.) The MeSH D007153
html:i html:i bacteria. Most people with this condition have their first bacterial infection db-key db key
Streptococcus pneumoniae Pseudomonas aeruginosa before age 2, and the infections can be life-threatening in infancy and OMIM 607676
childhood. Infections become less frequent with age. db-key db key
html:p Most people with IRAK-4 deficiency have invasive bacterial infections, which can Orphanet 70592
involve the blood (septicemia), the membrane covering the brain and spinal cord db-key db key
(meningitis), or the joints (leading to inflammation and arthritis). Invasive SNOMED CT 699869003
infections can also cause areas of tissue breakdown and pus production
(abscesses) on internal organs. In addition, affected individuals can have
localized infections of the upper respiratory tract, skin, or eyes. Although
fever is a common reaction to bacterial infections, many people with IRAK-4
deficiency do not at first develop a high fever in response to these infections,
even if the infection is severe.
related-gene-list
Iron-refractory iron deficiency anemia https://ghr.nlm.nih.gov/condition/iron-refractory-iron-deficiency-anemia Although iron deficiency anemia is relatively common, the prevalence of the html:p Iron-refractory iron deficiency anemia is one of many types of anemia, which is ar autosomal recessive TMPRSS6 https://ghr.nlm.nih.gov/gene/TMPRSS6 anemia, hypochromic microcytic, with defect in iron metabolism db key 2014-07 2017-12-29
缺鐵性貧血 iron-refractory form of the disease is unknown. At least 50 cases have been a group of conditions characterized by a shortage of healthy red blood cells. IRIDA GTR C0085576
described in the medical literature. Researchers suspect that iron-refractory This shortage prevents the blood from carrying an adequate supply of oxygen to IRIDA syndrome db key
iron deficiency anemia is underdiagnosed because affected individuals with very the body's tissues. iron-handling disorder, hereditary MeSH D018798
mild symptoms may never come to medical attention. html:p Iron-refractory iron deficiency anemia results from an inadequate amount db key
(deficiency) of iron in the bloodstream. It is described as "iron-refractory" OMIM 206200
because the condition is totally resistant (refractory) to treatment with iron db key
given orally and partially resistant to iron given in other ways, such as Orphanet 209981
intravenously (by IV). In people with this form of anemia, red blood cells are db key
abnormally small (microcytic) and pale (hypochromic). The symptoms of SNOMED CT 722005000
iron-refractory iron deficiency anemia can include tiredness (fatigue),
weakness, pale skin, and other complications. These symptoms are most pronounced
during childhood, although they tend to be mild. Affected individuals usually
have normal growth and development.
related-gene-list
Isobutyryl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/isobutyryl-coa-dehydrogenase-deficiency IBD deficiency is a rare disorder; approximately 22 cases have been html:p Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the ar autosomal recessive ACAD8 https://ghr.nlm.nih.gov/gene/ACAD8 deficiency of isobutyryl-CoA dehydrogenase db key 2010-06 2017-12-29
Isobutyryl-CoA dehydrogenase defect reported in the medical literature. breakdown of certain proteins. Normally, proteins from food are broken down into IBD deficiency GTR C1969809
Isobutyryl-CoA去氫酵素缺乏症 parts called amino acids. Amino acids can be further processed to provide isobutyryl-coenzyme A dehydrogenase deficiency db key
energy for growth and development. People with IBD deficiency have inadequate MeSH D000592
levels of an enzyme that helps break down a particular amino acid called valine. db key
html:p Most people with IBD deficiency are asymptomatic, which means they do not have OMIM 611283
any signs or symptoms of the condition. A few children with IBD deficiency have db key
developed features such as a weakened and enlarged heart (dilated Orphanet 79159
cardiomyopathy), weak muscle tone (hypotonia), and developmental delay. This db key
condition may also cause low numbers of red blood cells (anemia) and very low SNOMED CT 445274004
blood levels of carnitine, which is a natural substance that helps convert
certain foods into energy. The range of signs and symptoms associated with IBD
deficiency remains unclear because very few affected individuals have been
reported.
related-gene-list
Isodicentric chromosome 15 syndrome https://ghr.nlm.nih.gov/condition/isodicentric-chromosome-15-syndrome Isodicentric chromosome 15 syndrome occurs in about 1 in 30,000 newborns. html:p Isodicentric chromosome 15 syndrome is a developmental disorder with a broad n not inherited 15 https://ghr.nlm.nih.gov/chromosome/15 duplication/inversion 15q11 db key 2012-09 2017-12-29
spectrum of features. The signs and symptoms vary among affected individuals. idic(15) GeneReviews dup15q
html:p Poor muscle tone is commonly seen in individuals with isodicentric chromosome 15 inv dup(15) db key
syndrome and contributes to delayed development and impairment of motor skills, inverted duplication 15 MeSH D025063
including sitting and walking. isodicentric chromosome 15 db key
html:p Babies with isodicentric chromosome 15 syndrome often have trouble feeding due non-distal tetrasomy 15q Orphanet 3306
to weak facial muscles that impair sucking and swallowing; many also have db key
backflow of acidic stomach contents into the esophagus (gastroesophageal SNOMED CT 16569009
reflux). These feeding problems may make it difficult for them to gain weight.
html:p Intellectual disability in isodicentric chromosome 15 syndrome can range from
mild to profound. Speech is usually delayed and often remains absent or
impaired. Behavioral difficulties often associated with isodicentric chromosome
15 syndrome include hyperactivity, anxiety, and frustration leading to tantrums.
Other behaviors resemble features of autistic spectrum disorders, such as
repeating the words of others (echolalia), difficulty with changes in routine,
and problems with social interaction.
html:p About two-thirds of people with isodicentric chromosome 15 syndrome have
seizures. In more than half of affected individuals, the seizures begin in the
first year of life.
html:p About 40 percent of individuals with isodicentric chromosome 15 syndrome are
born with eyes that do not look in the same direction (strabismus). Hearing loss
in childhood is common and is usually caused by fluid buildup in the middle
ear. This hearing loss is often temporary. However, if left untreated during
early childhood, the hearing loss can interfere with language development and
worsen the speech problems associated with this disorder.
html:p Other problems associated with isodicentric chromosome 15 syndrome in some
affected individuals include minor genital abnormalities in males such as
undescended testes (cryptorchidism) and a spine that curves to the side
(scoliosis).
related-gene-list
Isolated Duane retraction syndrome https://ghr.nlm.nih.gov/condition/isolated-duane-retraction-syndrome Isolated Duane retraction syndrome affects an estimated 1 in 1,000 people html:p Isolated Duane retraction syndrome is a disorder of eye movement. This ad autosomal dominant CHN1 https://ghr.nlm.nih.gov/gene/CHN1 co-contractive retraction syndrome db key 2009-03 2017-12-29
單純Duane眼球後退綜合征 worldwide. This condition accounts for 1 percent to 5 percent of all cases of condition prevents outward movement of the eye (toward the ear), and in some code memo Duane anomaly, isolated GTR C0013261
(Eyes) abnormal eye alignment (strabismus). For unknown reasons, isolated Duane cases may also limit inward eye movement (toward the nose). As the eye moves ar autosomal recessive Duane retraction syndrome db key
syndrome affects females more often than males. inward, the eyelids partially close and the eyeball pulls back (retracts) into Duane syndrome GTR C0751083
its socket. Most commonly, only one eye is affected. About 10 percent of people Duane's syndrome db key
with isolated Duane retraction syndrome develop amblyopia ("lazy eye"), a ocular retraction syndrome GTR C0994516
condition that causes vision loss in the affected eye. Stilling-Turk-Duane syndrome db key
html:p About 70 percent of all cases of Duane retraction syndrome are isolated, which GeneReviews duane
means they occur without other signs and symptoms. Duane retraction syndrome can db key
also occur as part of syndromes that affect other areas of the body. For ICD-10-CM H50.81
example, Duane-radial ray syndrome is characterized by this eye disorder in db key
conjunction with abnormalities of bones in the arms and hands. ICD-10-CM H50.811
html:p Researchers have identified three forms of isolated Duane retraction syndrome, db key
designated types I, II, and III. The types vary in which eye movements are most ICD-10-CM H50.812
severely restricted (inward, outward, or both). All three types are db key
characterized by retraction of the eyeball as the eye moves inward. MeSH D004370
db key
Orphanet 233
db key
related-gene-list SNOMED CT 60318001
Isolated ectopia lentis https://ghr.nlm.nih.gov/condition/isolated-ectopia-lentis The prevalence of isolated ectopia lentis is unknown. In Denmark, an html:p Isolated ectopia lentis is a condition that affects the eyes, specifically the ad autosomal dominant ADAMTSL4 https://ghr.nlm.nih.gov/gene/ADAMTSL4 congenital ectopia lentis db key 2015-03 2017-12-29
estimated 6.4 per 100,000 individuals have ectopia lentis, but a large positioning of the lens. The lens is a clear structure at the front of the eye code memo related-gene gene-symbol ghr-page ectopia lentis GTR C1851286
proportion of these cases (about 75 percent) are syndromic. that helps focus light. In people with isolated ectopia lentis, the lens in one ar autosomal recessive FBN1 https://ghr.nlm.nih.gov/gene/FBN1 lens subluxation db key
or both eyes is not centrally positioned as it should be but is off-center subluxation of lens GTR C2673634
(displaced). Isolated ectopia lentis usually becomes apparent in childhood. The db key
lens may drift further off-center over time. GeneReviews adamtsl4-eyes
html:p Vision problems are common in isolated ectopia lentis. Affected individuals db key
often have nearsightedness (myopia) and can have an irregular curvature of the ICD-10-CM H27.11
lens or a structure that covers the front of the eye (the cornea), which causes db key
blurred vision (astigmatism). They may also develop clouding of the lenses ICD-10-CM H27.111
(cataracts) or increased pressure in the eyes (glaucoma) at an earlier age than db key
other adults. In a small number of people with isolated ectopia lentis, tearing ICD-10-CM H27.112
of the back lining of the eye (retinal detachment) occurs, which can lead to db key
further vision problems and possible blindness. ICD-10-CM H27.113
html:p In individuals with isolated ectopia lentis, each eye can be affected db key
differently. In addition, the eye problems vary among affected individuals, even ICD-10-CM H27.119
those within the same family. db key
html:p Ectopia lentis is classified as isolated when it occurs alone without signs and MeSH D004479
symptoms affecting other body systems. Ectopia lentis can also be classified as db key
syndromic, when it is part of a syndrome that affects multiple parts of the OMIM 129600
body. Ectopia lentis is a common feature of genetic syndromes such as Marfan db key
syndrome and Weill-Marchesani syndrome. OMIM 225100
db key
Orphanet 1885
db key
SNOMED CT 65814009
db key
related-gene-list SNOMED CT 74969002
Isolated growth hormone deficiency https://ghr.nlm.nih.gov/condition/isolated-growth-hormone-deficiency The incidence of isolated growth hormone deficiency is estimated to be 1 in html:p Isolated growth hormone deficiency is a condition caused by a severe shortage or ad autosomal dominant BTK https://ghr.nlm.nih.gov/gene/BTK dwarfism, growth hormone deficiency db key 2012-02 2017-12-29
(Blood) 4,000 to 10,000 individuals worldwide. absence of growth hormone. Growth hormone is a protein that is necessary for code memo related-gene gene-symbol ghr-page dwarfism, pituitary GTR C0271567
單純生长激素缺乏症 the normal growth of the body's bones and tissues. Because they do not have ar autosomal recessive GH1 https://ghr.nlm.nih.gov/gene/GH1 growth hormone deficiency dwarfism db key
enough of this hormone, people with isolated growth hormone deficiency commonly code memo related-gene gene-symbol ghr-page isolated GH deficiency GTR C0342573
experience a failure to grow at the expected rate and have unusually short xr X-linked recessive GHRHR https://ghr.nlm.nih.gov/gene/GHRHR isolated HGH deficiency db key
stature. This condition is usually apparent by early childhood. isolated human growth hormone deficiency GTR C0472813
html:p There are four types of isolated growth hormone deficiency differentiated by the isolated somatotropin deficiency db key
severity of the condition, the gene involved, and the inheritance pattern. isolated somatotropin deficiency disorder GTR C2748571
html:p Isolated growth hormone deficiency type IA is caused by an absence of growth db key
hormone and is the most severe of all the types. In people with type IA, growth ICD-10-CM D80.0
failure is evident in infancy as affected babies are shorter than normal at db key
birth. ICD-10-CM E23.0
html:p People with isolated growth hormone deficiency type IB produce very low levels db key
of growth hormone. As a result, type IB is characterized by short stature, but MeSH D004393
this growth failure is typically not as severe as in type IA. Growth failure in db key
people with type IB is usually apparent in early to mid-childhood. OMIM 173100
html:p Individuals with isolated growth hormone deficiency type II have very low levels db key
of growth hormone and short stature that varies in severity. Growth failure in OMIM 262400
these individuals is usually evident in early to mid-childhood. It is estimated db key
that nearly half of the individuals with type II have underdevelopment of the OMIM 307200
pituitary gland (pituitary hypoplasia). The pituitary gland is located at the db key
base of the brain and produces many hormones, including growth hormone. OMIM 612781
html:p Isolated growth hormone deficiency type III is similar to type II in that db key
affected individuals have very low levels of growth hormone and short stature Orphanet 231662
that varies in severity. Growth failure in type III is usually evident in early db key
to mid-childhood. People with type III may also have a weakened immune system Orphanet 231671
and are prone to frequent infections. They produce very few B cells, which are db key
specialized white blood cells that help protect the body against infection Orphanet 231679
(agammaglobulinemia). db key
Orphanet 231692
db key
SNOMED CT 18200000
db key
SNOMED CT 2109003
db key
SNOMED CT 234533006
db key
SNOMED CT 237687003
db key
Isolated Hemihypertrophy (Hemihyperplasia), IH
孤立的半高血壓
related-gene-list SNOMED CT 7990002
Isolated hyperchlorhidrosis https://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis Isolated hyperchlorhidrosis is a rare condition, although its prevalence is html:p Isolated hyperchlorhidrosis is characterized by the excessive loss of salt ar autosomal recessive CA12 https://ghr.nlm.nih.gov/gene/CA12 carbonic anhydrase XII deficiency db key 2014-05 2017-12-29
孤立的高氯血症 unknown. The condition has been found mostly in the Bedouin population of (sodium chloride or NaCl) in sweat. In particular, "hyperchlorhidrosis" refers GTR CN219251
southern Israel. to the high levels of chloride found in sweat, although both sodium and chloride db key
are released. Because the salt is abnormally released from the body in sweat, MeSH D014883
there are lower than normal levels of sodium in fluids inside the body db key
(hyponatremia). Most infants with isolated hyperchlorhidrosis experience one or OMIM 143860
more episodes of dehydration with low levels of sodium in the blood db key
(hyponatremic dehydration), which can require hospitalization. These episodes SNOMED CT 709413001
typically follow a mild illness that causes vomiting or diarrhea. Affected
infants also have poor feeding and an inability to grow and gain weight at the
expected rate (failure to thrive). By early childhood, though, weight and height
usually catch up to normal, although the abnormal loss of salt still remains.
These individuals may still experience dangerous hyponatremia when they sweat
excessively, for example in warm temperatures or when exercising.
html:p While hyperchlorhidrosis can occur as one of several features of other
conditions, such as cystic fibrosis, people with isolated hyperchlorhidrosis do
not have the additional signs and symptoms of these other conditions.
related-gene-list
Isolated hyperCKemia https://ghr.nlm.nih.gov/condition/isolated-hyperckemia The prevalence of isolated hyperCKemia is unknown. Because the condition html:p Isolated hyperCKemia is a condition characterized by elevated levels of an ad autosomal dominant CAV3 https://ghr.nlm.nih.gov/gene/CAV3 elevated serum CPK db key 2014-05 2017-12-29
has no symptoms, it is likely that some cases never come to medical attention. enzyme called creatine kinase in the blood. In affected individuals, levels of elevated serum creatine phosphokinase GTR C0241005
this enzyme are typically 3 to 10 times higher than normal. While elevated H-CK db key
creatine kinase often accompanies various muscle diseases, individuals with idiopathic hyperCKemia GeneReviews cav
isolated hyperCKemia have no muscle weakness or other symptoms. Some people with idiopathic persistent elevation of serum creatine kinase db key
this condition have abnormalities of muscle cells that can be seen with a MeSH D009135
microscope, such as unusual variability in the size of muscle fibers, but these db key
changes do not affect the function of the muscle. OMIM 123320
db key
related-gene-list SNOMED CT 432352001
Isolated lissencephaly sequence https://ghr.nlm.nih.gov/condition/isolated-lissencephaly-sequence ILS affects approximately 1 in 100,000 newborns. html:p Isolated lissencephaly sequence (ILS) is a condition that affects brain ad autosomal dominant DCX https://ghr.nlm.nih.gov/gene/DCX classical lissencephaly db key 2013-07 2017-12-29
孤立的平腦症 development before birth. Normally, the cells that make up the exterior of the code memo related-gene gene-symbol ghr-page ILS GTR C1843916
brain (cerebral cortex) are well-organized, multi-layered, and arranged into xd X-linked dominant PAFAH1B1 https://ghr.nlm.nih.gov/gene/PAFAH1B1 LIS1 db key
many folds and grooves (gyri). In people with ILS, the cells of the cerebral related-gene gene-symbol ghr-page lissencephaly type 1 GTR C1848199
cortex are disorganized, and the brain surface is abnormally smooth with an TUBA1A https://ghr.nlm.nih.gov/gene/TUBA1A lissencephaly, classic db key
absence (agyria) or reduction (pachygyria) of folds and grooves. In most cases, type 1 lissencephaly GTR C1969029
these abnormalities impair brain growth, causing the brain to be smaller than db key
normal (microcephaly). This underdevelopment of the brain causes severe GeneReviews chrom17-lis
intellectual disability, delayed development, and recurrent seizures (epilepsy) db key
in individuals with ILS. GeneReviews dcx
html:p More than 90 percent of individuals with ILS develop epilepsy, often within the db key
first year of life. Up to 80 percent of infants with ILS have a type of seizure GeneReviews tubulin-ov
called infantile spasms, these seizures can be severe enough to cause brain db key
dysfunction (epileptic encephalopathy). After the first months of life, most ICD-10-CM Q04.3
children with ILS develop a variety of seizure types, including persisting db key
infantile spasms, short periods of loss of consciousness (absence seizures); MeSH D054221
sudden episodes of weak muscle tone (drop attacks); rapid, uncontrolled muscle db key
jerks (myoclonic seizures); and episodes of muscle rigidity, convulsions, and OMIM 300067
loss of consciousness (tonic-clonic seizures). db key
html:p Infants with ILS may have poor muscle tone (hypotonia) and difficulty feeding, OMIM 607432
which leads to poor growth overall. Hypotonia also affects the muscles used for db key
breathing, which often causes breathing problems that can lead to a OMIM 611603
life-threatening bacterial lung infection known as aspiration pneumonia. db key
Children with ILS often develop muscle stiffness (spasticity) in their arms and Orphanet 48471
legs and an abnormal side-to-side curvature of the spine (scoliosis). Rarely, db key
the muscle stiffness will progress to paralysis (spastic paraplegia). SNOMED CT 253147000
Individuals with ILS cannot walk and rarely crawl. Most children with ILS do not db key
develop communication skills. SNOMED CT 715780008
related-gene-list
Isolated Pierre Robin sequence https://ghr.nlm.nih.gov/condition/isolated-pierre-robin-sequence Isolated Pierre Robin sequence affects an estimated 1 in 8,500 to 14,000 html:p Pierre Robin sequence is a set of abnormalities affecting the head and face, ad autosomal dominant SOX9 https://ghr.nlm.nih.gov/gene/SOX9 glossoptosis, micrognathia, and cleft palate db key 2016-12 2017-12-29
單純皮爾羅賓氏症 people. consisting of a small lower jaw (micrognathia), a tongue that is placed further Pierre Robin syndrome GTR C0031900
back than normal (glossoptosis), and blockage (obstruction) of the airways. Most Pierre-Robin syndrome db key
people with Pierre Robin sequence are also born with an opening in the roof of Robin sequence MeSH D010855
the mouth (a cleft palate). This feature is not generally considered necessary Robin syndrome db key
for diagnosis of the condition, although there is some disagreement among OMIM 261800
doctors. db key
html:p Some people have the features of Pierre Robin sequence as part of a syndrome Orphanet 718
that affects other organs and tissues in the body, such as Stickler syndrome or db key
campomelic dysplasia. These instances are described as syndromic. When Pierre SNOMED CT 4602007
Robin sequence occurs by itself, it is described as nonsyndromic or isolated.
Approximately 20 to 40 percent of cases of Pierre Robin sequence are isolated.
html:p This condition is described as a "sequence" because one of its features,
underdevelopment of the lower jaw (mandible), sets off a sequence of events
before birth that cause the other signs and symptoms. Specifically, having an
abnormally small jaw affects placement of the tongue, and the abnormally
positioned tongue can block the airways. In addition, micrognathia and
glossoptosis affect formation of the palate during development before birth,
which often leads to cleft palate.
html:p The combination of features characteristic of Pierre Robin sequence can lead to
difficulty breathing and problems eating early in life. As a result, some
affected babies have an inability to grow and gain weight at the expected rate
(failure to thrive). In some children with Pierre Robin sequence, growth of the
mandible catches up, and as adults these individuals have normal-sized chins.
related-gene-list
Isovaleric acidemia, IVA https://ghr.nlm.nih.gov/condition/isovaleric-acidemia Isovaleric acidemia is estimated to affect at least 1 in 250,000 people in html:p Isovaleric acidemia is a rare disorder in which the body is unable to process ar autosomal recessive IVD https://ghr.nlm.nih.gov/gene/IVD Isovaleric acid-CoA dehydrogenase deficiency db key 2007-04 2017-12-29
異戊酸血症 the United States. certain proteins properly. It is classified as an organic acid disorder, which Isovaleryl-CoA dehydrogenase deficiency GTR C0268575
is a condition that leads to an abnormal buildup of particular acids known as IVA db key
organic acids. Abnormal levels of organic acids in the blood (organic acidemia), IVD deficiency ICD-10-CM E71.110
urine (organic aciduria), and tissues can be toxic and can cause serious health db key
problems. MeSH D000592
html:p Normally, the body breaks down proteins from food into smaller parts called db key
amino acids. Amino acids can be further processed to provide energy for growth OMIM 243500
and development. People with isovaleric acidemia have inadequate levels of an db key
enzyme that helps break down a particular amino acid called leucine. Orphanet 33
html:p Health problems related to isovaleric acidemia range from very mild to db key
life-threatening. In severe cases, the features of isovaleric acidemia become SNOMED CT 87827003
apparent within a few days after birth. The initial symptoms include poor
feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms
sometimes progress to more serious medical problems, including seizures, coma,
and possibly death. A characteristic sign of isovaleric acidemia is a
distinctive odor of sweaty feet during acute illness. This odor is caused by the
buildup of a compound called isovaleric acid in affected individuals.
html:p In other cases, the signs and symptoms of isovaleric acidemia appear during
childhood and may come and go over time. Children with this condition may fail
to gain weight and grow at the expected rate (failure to thrive) and often have
delayed development. In these children, episodes of more serious health
problems can be triggered by prolonged periods without food (fasting),
infections, or eating an increased amount of protein-rich foods.
html:p Some people with gene mutations that cause isovaleric acidemia are asymptomatic,
which means they never experience any signs or symptoms of the condition.
related-gene-list
Jackson-Weiss syndrome https://ghr.nlm.nih.gov/condition/jackson-weiss-syndrome Jackson-Weiss syndrome is a rare genetic disorder; its incidence is html:p Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities ad autosomal dominant FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 JWS db key 2017-01 2017-12-29
unknown. and the premature fusion of certain skull bones (craniosynostosis). This early GTR C0795998
fusion prevents the skull from growing normally and affects the shape of the db key
head and face. GeneReviews craniosynostosis
html:p Many of the characteristic facial features of Jackson-Weiss syndrome result from db key
premature fusion of the skull bones. Abnormal growth of these bones leads to a MeSH D003398
misshapen skull, widely spaced eyes, and a bulging forehead. db key
html:p Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. OMIM 123150
The first (big) toes are short and wide, and they bend away from the other toes. db key
Additionally, the bones of some toes may be fused together (syndactyly) or Orphanet 1531
abnormally shaped. The hands are almost always normal. db key
html:p Some individuals with Jackson-Weiss syndrome have hearing impairment. People Orphanet 1540
with Jackson-Weiss syndrome usually have normal intelligence and a normal life db key
span. SNOMED CT 709105005
related-gene-list
Jacobsen syndrome https://ghr.nlm.nih.gov/condition/jacobsen-syndrome The estimated incidence of Jacobsen syndrome is 1 in 100,000 newborns. More html:p Jacobsen syndrome is a condition caused by a loss of genetic material from n not inherited ARHGAP32 https://ghr.nlm.nih.gov/gene/ARHGAP32 11q deletion disorder db key 2015-09 2017-12-29
雅各森症候群 than 200 affected individuals have been reported. chromosome 11. Because this deletion occurs at the end (terminus) of the long related-gene gene-symbol ghr-page 11q deletion syndrome GTR C0795841
(q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal ETS1 https://ghr.nlm.nih.gov/gene/ETS1 11q- deletion syndrome db key
deletion disorder. related-gene gene-symbol ghr-page 11q terminal deletion disorder MeSH D054868
html:p The signs and symptoms of Jacobsen syndrome vary considerably. Most affected FLI1 https://ghr.nlm.nih.gov/gene/FLI1 11q23 deletion disorder db key
individuals have delayed development, including the development of speech and related-chromosome name ghr-page Jacobsen thrombocytopenia OMIM 147791
motor skills (such as sitting, standing, and walking). Most also have cognitive 11 https://ghr.nlm.nih.gov/chromosome/11 db key
impairment and learning difficulties. Behavioral problems have been reported, Orphanet 851
including compulsive behavior (such as shredding paper), a short attention span, db key
and easy distractibility. Many people with Jacobsen syndrome have been Orphanet 2308
diagnosed with attention deficit-hyperactivity disorder (ADHD). Jacobsen db key
syndrome is also associated with an increased likelihood of autism spectrum SNOMED CT 4325000
disorders, which are characterized by impaired communication and socialization
skills.
html:p Jacobsen syndrome is also characterized by distinctive facial features. These
include small and low-set ears, widely set eyes (hypertelorism) with droopy
eyelids (ptosis), skin folds covering the inner corner of the eyes (epicanthal
folds), a broad nasal bridge, downturned corners of the mouth, a thin upper lip,
and a small lower jaw. Affected individuals often have a large head size
(macrocephaly) and a skull abnormality called trigonocephaly, which gives the
forehead a pointed appearance.
html:p More than 90 percent of people with Jacobsen syndrome have a bleeding disorder
called Paris-Trousseau syndrome. This condition causes a lifelong risk of
abnormal bleeding and easy bruising. Paris-Trousseau syndrome is a disorder of
platelets, which are blood cell fragments that are necessary for blood clotting.
html:p Other features of Jacobsen syndrome can include heart defects, feeding
difficulties in infancy, short stature, frequent ear and sinus infections, and
skeletal abnormalities. The disorder can also affect the digestive system,
kidneys, and genitalia. The life expectancy of people with Jacobsen syndrome is
unknown, although affected individuals have lived into adulthood.
inheritance-pattern-list
JAK3-deficient severe combined immunodeficiency https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficienc JAK3-deficient SCID accounts for an estimated 7 to 14 percent of cases of html:p html:i ar related-gene ghr-page synonym autosomal recessive T-B+NK- SCID db-key db key 2017-08 2017-12-29
y SCID. The prevalence of SCID from all genetic causes combined is approximately 1 JAK3 -deficient SCID lack the necessary immune cells to fight off certain bacteria, https://ghr.nlm.nih.gov/gene/JAK3 synonym autosomal recessive T cell-negative, B cell-positive, NK cell-negative severe GTR C1833275
in 50,000, although it may be higher in certain regions. viruses, and fungi. They are prone to repeated and persistent infections that combined immunodeficiency db-key db key
can be very serious or life-threatening. Often the organisms that cause synonym JAK3 SCID MeSH D016511
html:i -deficient SCID are described as opportunistic because they ordinarily do not synonym T-B+ severe combined immunodeficiency due to JAK3 deficiency db-key db key
JAK3 cause illness in healthy people. Affected infants typically develop chronic synonym T cell-negative, B cell-positive, NK cell-negative SCID OMIM 600802
diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and db-key db key
skin rashes. Persistent illness also causes affected individuals to grow more Orphanet 35078
html:i -deficient SCID usually live only into early childhood. db-key db key
JAK3 SNOMED CT 718107000
related-gene-list
Jervell and Lange-Nielsen syndrome https://ghr.nlm.nih.gov/condition/jervell-and-lange-nielsen-syndrome Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 html:p Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing ar autosomal recessive KCNE1 https://ghr.nlm.nih.gov/gene/KCNE1 autosomal recessive long QT syndrome (LQTS) db key 2017-09 2017-12-29
to 6 per 1 million people worldwide. This condition has a higher prevalence in loss from birth and a disruption of the heart's normal rhythm (arrhythmia). related-gene gene-symbol ghr-page cardio-auditory-syncope syndrome GTR C0022387
Denmark, Sweden, and Norway, where it affects at least 1 in 200,000 people. This disorder is a form of long QT syndrome, which is a heart condition that KCNQ1 https://ghr.nlm.nih.gov/gene/KCNQ1 cardioauditory syndrome of Jervell and Lange-Nielsen db key
causes the heart (cardiac) muscle to take longer than usual to recharge between deafness, congenital, and functional heart disease GTR C2676723
beats. Beginning in early childhood, the irregular heartbeats increase the risk Jervell-Lange Nielsen syndrome db key
of fainting (syncope) and sudden death. JLNS GTR CN034131
prolonged QT interval in EKG and sudden death db key
surdo-cardiac syndrome GeneReviews jln
db key
ICD-10-CM I45.81
db key
MeSH D029593
db key
OMIM 220400
db key
OMIM 612347
db key
Orphanet 768
db key
Orphanet 90647
db key
related-gene-list SNOMED CT 373905003
Joubert syndrome https://ghr.nlm.nih.gov/condition/joubert-syndrome Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in html:p Joubert syndrome is a disorder that affects many parts of the body. The signs ar autosomal recessive AHI1 https://ghr.nlm.nih.gov/gene/AHI1 agenesis of cerebellar vermis db key 2017-07 2017-12-29
Joubert氏综合征 100,000 newborns. However, this estimate may be too low because Joubert syndrome and symptoms of this condition vary among affected individuals, even among code memo related-gene gene-symbol ghr-page cerebello-oculo-renal syndrome GTR C0431399
has such a large range of possible features and is likely underdiagnosed. members of the same family. xr X-linked recessive ARL13B https://ghr.nlm.nih.gov/gene/ARL13B cerebellooculorenal syndrome 1 db key
Particular genetic mutations that cause this condition are more common in html:p The hallmark feature of Joubert syndrome is a combination of brain abnormalities related-gene gene-symbol ghr-page CORS GeneReviews joubert
certain ethnic groups, such as Ashkenazi Jewish, French-Canadian, and Hutterite that together are known as the molar tooth sign, which can be seen on brain B9D1 https://ghr.nlm.nih.gov/gene/B9D1 familial aplasia of the vermis db key
populations. imaging studies such as magnetic resonance imaging (MRI). This sign results from related-gene gene-symbol ghr-page JBTS MeSH D000015
the abnormal development of structures near the back of the brain, including B9D2 https://ghr.nlm.nih.gov/gene/B9D2 Joubert-Bolthauser syndrome db key
the cerebellar vermis and the brainstem. The molar tooth sign got its name related-gene gene-symbol ghr-page OMIM 213300
because the characteristic brain abnormalities resemble the cross-section of a C2CD3 https://ghr.nlm.nih.gov/gene/C2CD3 db key
molar tooth when seen on an MRI. related-gene gene-symbol ghr-page OMIM 300804
html:p Most infants with Joubert syndrome have low muscle tone (hypotonia) in infancy, C5orf42 https://ghr.nlm.nih.gov/gene/C5orf42 db key
which contributes to difficulty coordinating movements (ataxia) in early related-gene gene-symbol ghr-page OMIM 608091
childhood. Other characteristic features of the condition include episodes of CC2D2A https://ghr.nlm.nih.gov/gene/CC2D2A db key
unusually fast (hyperpnea) or slow (apnea) breathing in infancy, and abnormal related-gene gene-symbol ghr-page OMIM 608629
eye movements (ocular motor apraxia). Most affected individuals have delayed CEP41 https://ghr.nlm.nih.gov/gene/CEP41 db key
development and intellectual disability, which can range from mild to severe. related-gene gene-symbol ghr-page OMIM 609583
Distinctive facial features can also occur in Joubert syndrome; these include a CEP104 https://ghr.nlm.nih.gov/gene/CEP104 db key
broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes related-gene gene-symbol ghr-page OMIM 610188
(hypertelorism), low-set ears, and a triangle-shaped mouth. CEP120 https://ghr.nlm.nih.gov/gene/CEP120 db key
html:p Joubert syndrome can include a broad range of additional signs and symptoms. The related-gene gene-symbol ghr-page OMIM 610688
condition is sometimes associated with other eye abnormalities (such as retinal CEP290 https://ghr.nlm.nih.gov/gene/CEP290 db key
dystrophy, which can cause vision loss, and coloboma, which is a gap or split related-gene gene-symbol ghr-page OMIM 611560
in a structure of the eye), kidney disease (including polycystic kidney disease CSPP1 https://ghr.nlm.nih.gov/gene/CSPP1 db key
and nephronophthisis), liver disease, skeletal abnormalities (such as the related-gene gene-symbol ghr-page OMIM 612285
presence of extra fingers and toes), or hormone (endocrine) problems. A IFT172 https://ghr.nlm.nih.gov/gene/IFT172 db key
combination of the characteristic features of Joubert syndrome and one or more related-gene gene-symbol ghr-page OMIM 612291
of these additional signs and symptoms once characterized several separate INPP5E https://ghr.nlm.nih.gov/gene/INPP5E db key
disorders. Together, those disorders were referred to as Joubert syndrome and related-gene gene-symbol ghr-page OMIM 614173
related disorders (JSRD). Now, however, any instances that involve the molar KIAA0556 https://ghr.nlm.nih.gov/gene/KIAA0556 db key
tooth sign, including those with these additional signs and symptoms, are related-gene gene-symbol ghr-page OMIM 614424
usually considered Joubert syndrome. KIAA0586 https://ghr.nlm.nih.gov/gene/KIAA0586 db key
related-gene gene-symbol ghr-page OMIM 614464
KIF7 https://ghr.nlm.nih.gov/gene/KIF7 db key
related-gene gene-symbol ghr-page OMIM 614465
MKS1 https://ghr.nlm.nih.gov/gene/MKS1 db key
related-gene gene-symbol ghr-page OMIM 614615
NPHP1 https://ghr.nlm.nih.gov/gene/NPHP1 db key
related-gene gene-symbol ghr-page OMIM 614815
OFD1 https://ghr.nlm.nih.gov/gene/OFD1 db key
related-gene gene-symbol ghr-page OMIM 614844
PDE6D https://ghr.nlm.nih.gov/gene/PDE6D db key
related-gene gene-symbol ghr-page OMIM 614970
POC1B https://ghr.nlm.nih.gov/gene/POC1B db key
related-gene gene-symbol ghr-page OMIM 615636
RPGRIP1L https://ghr.nlm.nih.gov/gene/RPGRIP1L db key
related-gene gene-symbol ghr-page OMIM 615665
TCTN1 https://ghr.nlm.nih.gov/gene/TCTN1 db key
related-gene gene-symbol ghr-page OMIM 616490
TCTN2 https://ghr.nlm.nih.gov/gene/TCTN2 db key
related-gene gene-symbol ghr-page OMIM 616654
TCTN3 https://ghr.nlm.nih.gov/gene/TCTN3 db key
related-gene gene-symbol ghr-page OMIM 616781
TMEM67 https://ghr.nlm.nih.gov/gene/TMEM67 db key
related-gene gene-symbol ghr-page OMIM 616784
TMEM107 https://ghr.nlm.nih.gov/gene/TMEM107 db key
related-gene gene-symbol ghr-page OMIM 617120
TMEM138 https://ghr.nlm.nih.gov/gene/TMEM138 db key
related-gene gene-symbol ghr-page OMIM 617121
TMEM216 https://ghr.nlm.nih.gov/gene/TMEM216 db key
related-gene gene-symbol ghr-page Orphanet 475
TMEM231 https://ghr.nlm.nih.gov/gene/TMEM231 db key
related-gene gene-symbol ghr-page SNOMED CT 253175003
TMEM237 https://ghr.nlm.nih.gov/gene/TMEM237
related-gene gene-symbol ghr-page
TTC21B https://ghr.nlm.nih.gov/gene/TTC21B
related-gene gene-symbol ghr-page
ZNF423 https://ghr.nlm.nih.gov/gene/ZNF423
related-gene-list
Junctional epidermolysis bullosa https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa Both types of junctional epidermolysis bullosa are rare, affecting fewer html:p Junctional epidermolysis bullosa (JEB) is one of the major forms of ar autosomal recessive COL17A1 https://ghr.nlm.nih.gov/gene/COL17A1 Epidermolysis Bullosa, Junctional db key 2009-09 2017-12-29
than 1 per million people in the United States. epidermolysis bullosa, a group of genetic conditions that cause the skin to be related-gene gene-symbol ghr-page JEB GTR C0079301
very fragile and to blister easily. Blisters and skin erosions form in response LAMA3 https://ghr.nlm.nih.gov/gene/LAMA3 db key
to minor injury or friction, such as rubbing or scratching. Researchers classify related-gene gene-symbol ghr-page GTR C0079683
junctional epidermolysis bullosa into two main types: Herlitz JEB and LAMB3 https://ghr.nlm.nih.gov/gene/LAMB3 db key
non-Herlitz JEB. Although the types differ in severity, their features overlap related-gene gene-symbol ghr-page GTR C0268374
significantly, and they can be caused by mutations in the same genes. LAMC2 https://ghr.nlm.nih.gov/gene/LAMC2 db key
html:p Herlitz JEB is the more severe form of the condition. From birth or early GeneReviews ebj
infancy, affected individuals have blistering over large regions of the body. db key
Blistering also affects the mucous membranes, such as the moist lining of the ICD-10-CM Q81.8
mouth and digestive tract, which can make it difficult to eat and digest food. db key
As a result, many affected children have chronic malnutrition and slow growth. MeSH D016109
The extensive blistering leads to scarring and the formation of red, bumpy db key
patches called granulation tissue. Granulation tissue bleeds easily and OMIM 226650
profusely, making affected infants susceptible to serious infections and loss of db key
necessary proteins, minerals, and fluids. Additionally, a buildup of OMIM 226700
granulation tissue in the airway can lead to a weak, hoarse cry and difficulty db key
breathing. Orphanet 305
html:p Other complications of Herlitz JEB can include fusion of the fingers and toes, db key
abnormalities of the fingernails and toenails, joint deformities (contractures) SNOMED CT 33662006
that restrict movement, and hair loss (alopecia). Because the signs and symptoms db key
of Herlitz JEB are so severe, infants with this condition usually do not SNOMED CT 399971009
survive beyond the first year of life. db key
html:p The milder form of junctional epidermolysis bullosa is called non-Herlitz JEB. SNOMED CT 400140006
The blistering associated with non-Herlitz JEB may be limited to the hands, db key
feet, knees, and elbows, and it often improves after the newborn period. Other SNOMED CT 79855003
characteristic features of this condition include alopecia, malformed
fingernails and toenails, and irregular tooth enamel. Most affected individuals
do not have extensive scarring or granulation tissue formation, so breathing
difficulties and other severe complications are rare. Non-Herlitz JEB is
typically associated with a normal lifespan.
related-gene-list
Juvenile hyaline fibromatosis https://ghr.nlm.nih.gov/condition/juvenile-hyaline-fibromatosis The prevalence of juvenile hyaline fibromatosis is unknown. About 70 people html:p Juvenile hyaline fibromatosis is a disorder that affects the skin, joints, and ar autosomal recessive ANTXR2 https://ghr.nlm.nih.gov/gene/ANTXR2 inherited systemic hyalinosis db key 2008-12 2017-12-29
with this disorder have been reported. bones. Individuals with this condition typically begin to develop signs and juvenile hyalinosis GTR C2745948
symptoms within the first few years of life. Juvenile hyaline fibromatosis is molluscum fibrosum db key
characterized by skin bumps that frequently appear on the hands, neck, scalp, Murray syndrome GeneReviews sys-h
ears, and nose. These skin bumps can also develop in joint creases and the Puretic syndrome db key
genital region. They vary in size and are sometimes painful. Affected Systemic hyalinosis MeSH D057770
individuals usually develop more skin bumps over time. db key
html:p Juvenile hyaline fibromatosis is also characterized by overgrowth of the gums OMIM 228600
(gingival hypertrophy) and joint deformities (contractures) that can impair db key
movement. In addition, affected individuals may grow slowly and have bone Orphanet 2028
abnormalities. People with juvenile hyaline fibromatosis typically have severe db key
physical limitations, but most individuals have normal intelligence and live SNOMED CT 238861002
into adulthood.
related-gene-list
Juvenile idiopathic arthritis https://ghr.nlm.nih.gov/condition/juvenile-idiopathic-arthritis The incidence of juvenile idiopathic arthritis in North America and Europe html:p Juvenile idiopathic arthritis refers to a group of conditions involving joint u pattern unknown HLA-A https://ghr.nlm.nih.gov/gene/HLA-A arthritis, juvenile rheumatoid db key 2015-02 2017-12-29
幼年特發性關節炎 is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately inflammation (arthritis) that first appears before the age of 16. This condition related-gene gene-symbol ghr-page JIA GTR C1858558
294,000, children in the United States are affected. The most common type of is an autoimmune disorder, which means that the immune system malfunctions and HLA-B https://ghr.nlm.nih.gov/gene/HLA-B JRA db key
juvenile idiopathic arthritis in the United States is oligoarticular juvenile attacks the body's organs and tissues, in this case the joints. related-gene gene-symbol ghr-page juvenile chronic arthritis ICD-10-CM M08
idiopathic arthritis, which accounts for about half of all cases. For reasons html:p Researchers have described seven types of juvenile idiopathic arthritis. The HLA-DPB1 https://ghr.nlm.nih.gov/gene/HLA-DPB1 juvenile RA db key
that are unclear, females seem to be affected with juvenile idiopathic arthritis types are distinguished by their signs and symptoms, the number of joints related-gene gene-symbol ghr-page juvenile rheumatoid arthritis ICD-10-CM M08.0
somewhat more frequently than males. However, in enthesitis-related juvenile affected, the results of laboratory tests, and the family history. HLA-DQA1 https://ghr.nlm.nih.gov/gene/HLA-DQA1 systemic juvenile rheumatoid arthritis db key
idiopathic arthritis males are affected more often than females. The incidence html:p Systemic juvenile idiopathic arthritis causes inflammation in one or more related-gene gene-symbol ghr-page ICD-10-CM M08.00
of juvenile idiopathic arthritis varies across different populations and ethnic joints. A high daily fever that lasts at least 2 weeks either precedes or HLA-DQB1 https://ghr.nlm.nih.gov/gene/HLA-DQB1 db key
groups. accompanies the arthritis. Individuals with systemic arthritis may also have a related-gene gene-symbol ghr-page ICD-10-CM M08.01
skin rash or enlargement of the lymph nodes (lymphadenopathy), liver HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 db key
(hepatomegaly), or spleen (splenomegaly). related-gene gene-symbol ghr-page ICD-10-CM M08.02
html:p Oligoarticular juvenile idiopathic arthritis (also known as oligoarthritis) has IL2RA https://ghr.nlm.nih.gov/gene/IL2RA db key
no features other than joint inflammation. Oligoarthritis is marked by the related-gene gene-symbol ghr-page ICD-10-CM M08.2
occurrence of arthritis in four or fewer joints in the first 6 months of the IL6 https://ghr.nlm.nih.gov/gene/IL6 db key
disease. It is divided into two subtypes depending on the course of disease. If related-gene gene-symbol ghr-page ICD-10-CM M08.03
the arthritis is confined to four or fewer joints after 6 months, then the MIF https://ghr.nlm.nih.gov/gene/MIF db key
condition is classified as persistent oligoarthritis. If more than four joints related-gene gene-symbol ghr-page ICD-10-CM M08.3
are affected after 6 months, this condition is classified as extended PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
oligoarthritis. related-gene gene-symbol ghr-page ICD-10-CM M08.04
html:p Rheumatoid factor positive polyarticular juvenile idiopathic arthritis (also SLC11A1 https://ghr.nlm.nih.gov/gene/SLC11A1 db key
known as polyarthritis, rheumatoid factor positive) causes inflammation in five related-gene gene-symbol ghr-page ICD-10-CM M08.4
or more joints within the first 6 months of the disease. Individuals with this STAT4 https://ghr.nlm.nih.gov/gene/STAT4 db key
condition also have a positive blood test for proteins called rheumatoid related-gene gene-symbol ghr-page ICD-10-CM M08.05
factors. This type of arthritis closely resembles rheumatoid arthritis as seen TNF https://ghr.nlm.nih.gov/gene/TNF db key
in adults. related-gene gene-symbol ghr-page ICD-10-CM M08.06
html:p Rheumatoid factor negative polyarticular juvenile idiopathic arthritis (also TNFAIP3 https://ghr.nlm.nih.gov/gene/TNFAIP3 db key
known as polyarthritis, rheumatoid factor negative) is also characterized by related-gene gene-symbol ghr-page ICD-10-CM M08.07
arthritis in five or more joints within the first 6 months of the disease. TRAF1 https://ghr.nlm.nih.gov/gene/TRAF1 db key
Individuals with this type, however, test negative for rheumatoid factor in the related-gene gene-symbol ghr-page ICD-10-CM M08.08
blood. WISP3 https://ghr.nlm.nih.gov/gene/WISP3 db key
html:p Psoriatic juvenile idiopathic arthritis involves arthritis that usually occurs ICD-10-CM M08.8
in combination with a skin disorder called psoriasis. Psoriasis is a condition db key
characterized by patches of red, irritated skin that are often covered by flaky ICD-10-CM M08.09
white scales. Some affected individuals develop psoriasis before arthritis while db key
others first develop arthritis. Other features of psoriatic arthritis include ICD-10-CM M08.9
abnormalities of the fingers and nails or eye problems. db key
html:p Enthesitis-related juvenile idiopathic arthritis is characterized by tenderness ICD-10-CM M08.011
where the bone meets a tendon, ligament or other connective tissue. This db key
tenderness, known as enthesitis, accompanies the joint inflammation of ICD-10-CM M08.012
arthritis. Enthesitis-related arthritis may also involve inflammation in parts db key
of the body other than the joints. ICD-10-CM M08.019
html:p The last type of juvenile idiopathic arthritis is called undifferentiated db key
arthritis. This classification is given to affected individuals who do not fit ICD-10-CM M08.20
into any of the above types or who fulfill the criteria for more than one type db key
of juvenile idiopathic arthritis. ICD-10-CM M08.021
db key
ICD-10-CM M08.21
db key
ICD-10-CM M08.022
db key
ICD-10-CM M08.22
db key
ICD-10-CM M08.23
db key
ICD-10-CM M08.24
db key
ICD-10-CM M08.25
db key
ICD-10-CM M08.26
db key
ICD-10-CM M08.27
db key
ICD-10-CM M08.28
db key
ICD-10-CM M08.029
db key
ICD-10-CM M08.29
db key
ICD-10-CM M08.031
db key
ICD-10-CM M08.032
db key
ICD-10-CM M08.039
db key
ICD-10-CM M08.40
db key
ICD-10-CM M08.041
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ICD-10-CM M08.41
db key
ICD-10-CM M08.042
db key
ICD-10-CM M08.42
db key
ICD-10-CM M08.43
db key
ICD-10-CM M08.44
db key
ICD-10-CM M08.45
db key
ICD-10-CM M08.46
db key
ICD-10-CM M08.47
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ICD-10-CM M08.48
db key
ICD-10-CM M08.049
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ICD-10-CM M08.051
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ICD-10-CM M08.052
db key
ICD-10-CM M08.059
db key
ICD-10-CM M08.061
db key
ICD-10-CM M08.062
db key
ICD-10-CM M08.069
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ICD-10-CM M08.071
db key
ICD-10-CM M08.072
db key
ICD-10-CM M08.079
db key
ICD-10-CM M08.80
db key
ICD-10-CM M08.81
db key
ICD-10-CM M08.82
db key
ICD-10-CM M08.83
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ICD-10-CM M08.84
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ICD-10-CM M08.85
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ICD-10-CM M08.86
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ICD-10-CM M08.87
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ICD-10-CM M08.88
db key
ICD-10-CM M08.89
db key
ICD-10-CM M08.90
db key
ICD-10-CM M08.91
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ICD-10-CM M08.92
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ICD-10-CM M08.93
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ICD-10-CM M08.94
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ICD-10-CM M08.95
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ICD-10-CM M08.96
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ICD-10-CM M08.97
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ICD-10-CM M08.98
db key
ICD-10-CM M08.99
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ICD-10-CM M08.211
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ICD-10-CM M08.212
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ICD-10-CM M08.219
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ICD-10-CM M08.221
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ICD-10-CM M08.222
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ICD-10-CM M08.229
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ICD-10-CM M08.231
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ICD-10-CM M08.232
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ICD-10-CM M08.239
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ICD-10-CM M08.241
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ICD-10-CM M08.242
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ICD-10-CM M08.249
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ICD-10-CM M08.251
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ICD-10-CM M08.252
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ICD-10-CM M08.259
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ICD-10-CM M08.261
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ICD-10-CM M08.262
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ICD-10-CM M08.269
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ICD-10-CM M08.271
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ICD-10-CM M08.272
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ICD-10-CM M08.279
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ICD-10-CM M08.411
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ICD-10-CM M08.412
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ICD-10-CM M08.419
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ICD-10-CM M08.421
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ICD-10-CM M08.422
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ICD-10-CM M08.429
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ICD-10-CM M08.431
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ICD-10-CM M08.432
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ICD-10-CM M08.439
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ICD-10-CM M08.441
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ICD-10-CM M08.442
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ICD-10-CM M08.449
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ICD-10-CM M08.451
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ICD-10-CM M08.452
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ICD-10-CM M08.459
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ICD-10-CM M08.461
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ICD-10-CM M08.462
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ICD-10-CM M08.469
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ICD-10-CM M08.471
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ICD-10-CM M08.472
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ICD-10-CM M08.479
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ICD-10-CM M08.811
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ICD-10-CM M08.812
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ICD-10-CM M08.819
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ICD-10-CM M08.821
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ICD-10-CM M08.822
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ICD-10-CM M08.829
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ICD-10-CM M08.831
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ICD-10-CM M08.832
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ICD-10-CM M08.839
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ICD-10-CM M08.841
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ICD-10-CM M08.842
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ICD-10-CM M08.849
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ICD-10-CM M08.851
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ICD-10-CM M08.852
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ICD-10-CM M08.859
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ICD-10-CM M08.861
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ICD-10-CM M08.862
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ICD-10-CM M08.869
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ICD-10-CM M08.871
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ICD-10-CM M08.872
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ICD-10-CM M08.879
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ICD-10-CM M08.911
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ICD-10-CM M08.912
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ICD-10-CM M08.919
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ICD-10-CM M08.921
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ICD-10-CM M08.922
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ICD-10-CM M08.929
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ICD-10-CM M08.931
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ICD-10-CM M08.932
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ICD-10-CM M08.939
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ICD-10-CM M08.941
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ICD-10-CM M08.942
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ICD-10-CM M08.949
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ICD-10-CM M08.951
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ICD-10-CM M08.952
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ICD-10-CM M08.959
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ICD-10-CM M08.961
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ICD-10-CM M08.962
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ICD-10-CM M08.969
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ICD-10-CM M08.971
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ICD-10-CM M08.972
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ICD-10-CM M08.979
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MeSH D001171
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OMIM 604302
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Orphanet 92
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SNOMED CT 201796004
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SNOMED CT 239796000
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related-gene-list SNOMED CT 410502007
Juvenile myoclonic epilepsy https://ghr.nlm.nih.gov/condition/juvenile-myoclonic-epilepsy Juvenile myoclonic epilepsy affects an estimated 1 in 1,000 people html:p Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures ad autosomal dominant CACNB4 https://ghr.nlm.nih.gov/gene/CACNB4 adolescent myoclonic epilepsy db key 2015-09 2017-12-29
青少年肌阵挛性癫痫 worldwide. Approximately 5 percent of people with epilepsy have juvenile (epilepsy). This condition begins in childhood or adolescence, usually between code memo related-gene gene-symbol ghr-page Janz syndrome GTR C0393697
myoclonic epilepsy. ages 12 and 18, and lasts into adulthood. The most common type of seizure in ar autosomal recessive CLCN2 https://ghr.nlm.nih.gov/gene/CLCN2 petit mal, impulsive db key
people with this condition is myoclonic seizures, which cause rapid, related-gene gene-symbol ghr-page GTR C1850778
uncontrolled muscle jerks. People with this condition may also have generalized EFHC1 https://ghr.nlm.nih.gov/gene/EFHC1 db key
tonic-clonic seizures (also known as grand mal seizures), which cause muscle related-gene gene-symbol ghr-page GTR C2749942
rigidity, convulsions, and loss of consciousness. Sometimes, affected GABRA1 https://ghr.nlm.nih.gov/gene/GABRA1 db key
individuals have absence seizures, which cause loss of consciousness for a short related-gene gene-symbol ghr-page GTR C2750887
period that appears as a staring spell. Typically, people with juvenile GABRD https://ghr.nlm.nih.gov/gene/GABRD db key
myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, GTR C2751603
then develop generalized tonic-clonic seizures a few years later. Although db key
seizures can happen at any time, they occur most commonly in the morning, GTR C3280332
shortly after awakening. Seizures can be triggered by a lack of sleep, extreme db key
tiredness, stress, or alcohol consumption. ICD-10-CM G40.B01
db key
ICD-10-CM G40.B09
db key
ICD-10-CM G40.B11
db key
ICD-10-CM G40.B19
db key
MeSH D020190
db key
OMIM 254770
db key
OMIM 607628
db key
OMIM 607682
db key
OMIM 611136
db key
OMIM 613060
db key
OMIM 614280
db key
related-gene-list SNOMED CT 6204001
Juvenile Paget disease https://ghr.nlm.nih.gov/condition/juvenile-paget-disease Juvenile Paget disease is rare; about 50 affected individuals have been html:p Juvenile Paget disease is a disorder that affects bone growth. This disease ar autosomal recessive TNFRSF11B https://ghr.nlm.nih.gov/gene/TNFRSF11B chronic congenital idiopathic hyperphosphatasemia db key 2010-02 2017-12-29
青少年型變形性骨炎 identified worldwide. causes bones to be abnormally large, misshapen, and easily broken (fractured). familial idiopathic hyperphosphatasemia GTR C0268414
html:p The signs of juvenile Paget disease appear in infancy or early childhood. As familial osteoectasia db key
bones grow, they become progressively weaker and more deformed. These hyperostosis corticalis deformans juvenilis MeSH D010001
abnormalities usually become more severe during the adolescent growth spurt, hyperphosphatasemia with bone disease db key
when bones grow very quickly. hyperphosphatasia, familial idiopathic OMIM 239000
html:p Juvenile Paget disease affects the entire skeleton, resulting in widespread bone idiopathic hyperphosphatasia db key
and joint pain. The bones of the skull tend to grow unusually large and thick, JPD Orphanet 2801
which can lead to hearing loss. The disease also affects bones of the spine juvenile Paget's disease db key
(vertebrae). The deformed vertebrae can collapse, leading to abnormal curvature osteochalasia desmalis familiaris SNOMED CT 9723006
of the spine. Additionally, weight-bearing long bones in the legs tend to bow osteoectasia with hyperphosphatasia
and fracture easily, which can interfere with standing and walking.
related-gene-list
Juvenile polyposis syndrome https://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome Juvenile polyposis syndrome occurs in approximately 1 in 100,000 html:p Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous ad autosomal dominant BMPR1A https://ghr.nlm.nih.gov/gene/BMPR1A JIP db key 2013-10 2017-12-29
individuals worldwide. (benign) growths called juvenile polyps. People with juvenile polyposis related-gene gene-symbol ghr-page JPS GTR C0345893
syndrome typically develop polyps before age 20; however, in the name of this SMAD4 https://ghr.nlm.nih.gov/gene/SMAD4 juvenile intestinal polyposis db key
condition "juvenile" refers to the characteristics of the tissues that make up GeneReviews jps
the polyp, not the age of the affected individual. These growths occur in the db key
gastrointestinal tract, typically in the large intestine (colon). The number of ICD-10-CM D12.6
polyps varies from only a few to hundreds, even among affected members of the db key
same family. Polyps may cause gastrointestinal bleeding, a shortage of red MeSH D044483
blood cells (anemia), abdominal pain, and diarrhea. Approximately 15 percent of db key
people with juvenile polyposis syndrome have other abnormalities, such as a OMIM 174900
twisting of the intestines (intestinal malrotation), heart or brain db key
abnormalities, an opening in the roof of the mouth (cleft palate), extra fingers Orphanet 2929
or toes (polydactyly), and abnormalities of the genitalia or urinary tract. db key
html:p Juvenile polyposis syndrome is diagnosed when a person has any one of the SNOMED CT 9273005
following: (1) more than five juvenile polyps of the colon or rectum; (2)
juvenile polyps in other parts of the gastrointestinal tract; or (3) any number
of juvenile polyps and one or more affected family members. Single juvenile
polyps are relatively common in children and are not characteristic of juvenile
polyposis syndrome.
html:p Three types of juvenile polyposis syndrome have been described, based on the
signs and symptoms of the disorder. Juvenile polyposis of infancy is
characterized by polyps that occur throughout the gastrointestinal tract during
infancy. Juvenile polyposis of infancy is the most severe form of the disorder
and is associated with the poorest outcome. Children with this type may develop
a condition called protein-losing enteropathy. This condition results in severe
diarrhea, failure to gain weight and grow at the expected rate (failure to
thrive), and general wasting and weight loss (cachexia). Another type called
generalized juvenile polyposis is diagnosed when polyps develop throughout the
gastrointestinal tract. In the third type, known as juvenile polyposis coli,
affected individuals develop polyps only in their colon. People with generalized
juvenile polyposis and juvenile polyposis coli typically develop polyps during
childhood.
html:p Most juvenile polyps are benign, but there is a chance that polyps can become
cancerous (malignant). It is estimated that people with juvenile polyposis
syndrome have a 10 to 50 percent risk of developing a cancer of the
gastrointestinal tract. The most common type of cancer seen in people with
juvenile polyposis syndrome is colorectal cancer.
related-gene-list
Juvenile primary lateral sclerosis https://ghr.nlm.nih.gov/condition/juvenile-primary-lateral-sclerosis Juvenile primary lateral sclerosis is a rare disorder, with few reported html:p Juvenile primary lateral sclerosis is a rare disorder characterized by ar autosomal recessive ALS2 https://ghr.nlm.nih.gov/gene/ALS2 JPLS db key 2013-07 2017-12-29
cases. progressive weakness and tightness (spasticity) of muscles in the arms, legs, related-gene gene-symbol ghr-page juvenile PLS GTR C1853396
and face. The features of this disorder are caused by damage to motor neurons, ERLIN2 https://ghr.nlm.nih.gov/gene/ERLIN2 PLSJ db key
which are specialized nerve cells in the brain and spinal cord that control primary lateral sclerosis, juvenile GeneReviews iahsp
muscle movement. db key
html:p Symptoms of juvenile primary lateral sclerosis begin in early childhood and MeSH D016472
progress slowly over many years. Early symptoms include clumsiness, muscle db key
weakness and spasticity in the legs, and difficulty with balance. As symptoms OMIM 606353
progress, the spasticity spreads to the arms and hands and individuals develop db key
slurred speech, drooling, difficulty swallowing, and an inability to walk. SNOMED CT 717964007
related-gene-list
Juvenile primary osteoporosis https://ghr.nlm.nih.gov/condition/juvenile-primary-osteoporosis The prevalence of juvenile primary osteoporosis is unknown. Nearly 1 in 10 html:p Juvenile primary osteoporosis is a skeletal disorder characterized by thinning ad autosomal dominant LRP5 https://ghr.nlm.nih.gov/gene/LRP5 childhood-onset primary osteoporosis db key 2013-01 2017-12-29
adults over age 50 have osteoporosis, but the condition is uncommon in children. of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by idiopathic juvenile osteoporosis GTR C1866079
Osteoporosis can occur at a young age as a feature of other conditions but a shortage of calcium and other minerals in bones (decreased bone mineral db key
rarely occurs without other signs and symptoms (primary osteoporosis). density), which makes the bones brittle and prone to fracture. Affected MeSH D010024
individuals often have multiple fractures in the long bones of the arms and db key
legs, especially in the regions where new bone forms (metaphyses). They also SNOMED CT 240156000
have fractures in the bones that form the spine (vertebrae), which can cause
collapse of the affected vertebrae (compressed vertebrae). Multiple fractures
can cause bone pain and lead to movement problems.
related-gene-list
Kabuki syndrome https://ghr.nlm.nih.gov/condition/kabuki-syndrome Kabuki syndrome occurs in approximately 1 in 32,000 newborns. html:p Kabuki syndrome is a disorder that affects many parts of the body. It is ad autosomal dominant KDM6A https://ghr.nlm.nih.gov/gene/KDM6A Kabuki make-up syndrome db key 2017-01 2017-12-29
歌舞伎症候群 characterized by distinctive facial features including arched eyebrows; long related-gene gene-symbol ghr-page Kabuki makeup syndrome GTR C3275495
eyelashes; long openings of the eyelids (long palpebral fissures) with the lower KMT2D https://ghr.nlm.nih.gov/gene/KMT2D KMS db key
lids turned out (everted) at the outside edges; a flat, broadened tip of the Niikawa-Kuroki syndrome GTR CN030661
nose; and large protruding earlobes. The name of this disorder comes from the db key
resemblance of its characteristic facial appearance to stage makeup used in GeneReviews kabuki
traditional Japanese Kabuki theater. db key
html:p People with Kabuki syndrome have mild to severe developmental delay and MeSH D000015
intellectual disability. Affected individuals may also have seizures, an db key
unusually small head size (microcephaly), or weak muscle tone (hypotonia). Some OMIM 147920
have eye problems such as rapid, involuntary eye movements (nystagmus) or eyes db key
that do not look in the same direction (strabismus). OMIM 300867
html:p Other characteristic features of Kabuki syndrome include short stature and db key
skeletal abnormalities such as abnormal side-to-side curvature of the spine Orphanet 2322
(scoliosis), short fifth (pinky) fingers, or problems with the hip and knee db key
joints. The roof of the mouth may have an abnormal opening (cleft palate) or be SNOMED CT 313426007
high and arched, and dental problems are common in affected individuals. People
with Kabuki syndrome may also have fingerprints with unusual features and fleshy
pads at the tips of the fingers. These prominent finger pads are called fetal
finger pads because they normally occur in human fetuses; in most people they
disappear before birth.
html:p A wide variety of other health problems occur in some people with Kabuki
syndrome. Among the most commonly reported are heart abnormalities, frequent ear
infections (otitis media), hearing loss, and early puberty.
related-gene-list
Kallmann syndrome https://ghr.nlm.nih.gov/condition/kallmann-syndrome Kallmann syndrome occurs more often in males than in females, with an html:p Kallmann syndrome is a condition characterized by delayed or absent puberty and ad autosomal dominant ANOS1 https://ghr.nlm.nih.gov/gene/ANOS1 anosmic hypogonadism db key 2016-12 2017-12-29
卡勒曼症候群 estimated prevalence of 1 in 30,000 males and 1 in 120,000 females. an impaired sense of smell. code memo related-gene gene-symbol ghr-page anosmic idiopathic hypogonadotropic hypogonadism GTR C0162809
html:p This disorder is a form of hypogonadotropic hypogonadism, which is a condition ar autosomal recessive AXL https://ghr.nlm.nih.gov/gene/AXL hypogonadism with anosmia db key
resulting from a lack of production of certain hormones that direct sexual code memo related-gene gene-symbol ghr-page hypogonadotropic hypogonadism and anosmia GTR C1563719
development. These hormones are normally made in a part of the brain called the xr X-linked recessive CCDC141 https://ghr.nlm.nih.gov/gene/CCDC141 hypogonadotropic hypogonadism-anosmia syndrome db key
hypothalamus. Males born with hypogonadotropic hypogonadism often have an related-gene gene-symbol ghr-page Kallman's syndrome GTR C1563720
unusually small penis (micropenis) and undescended testes (cryptorchidism). At CHD7 https://ghr.nlm.nih.gov/gene/CHD7 db key
puberty, most affected individuals do not develop secondary sex characteristics, related-gene gene-symbol ghr-page GTR C1839911
such as the growth of facial hair and deepening of the voice in males, the DUSP6 https://ghr.nlm.nih.gov/gene/DUSP6 db key
start of monthly periods (menstruation) and breast development in females, and a related-gene gene-symbol ghr-page GTR C1857720
growth spurt in both sexes. Without treatment, most affected men and women are FEZF1 https://ghr.nlm.nih.gov/gene/FEZF1 db key
unable to have biological children (infertile). related-gene gene-symbol ghr-page GTR C2675188
html:p In Kallmann syndrome, the sense of smell is either diminished (hyposmia) or FGF8 https://ghr.nlm.nih.gov/gene/FGF8 db key
completely absent (anosmia). This feature distinguishes Kallmann syndrome from related-gene gene-symbol ghr-page GTR C2675302
most other forms of hypogonadotropic hypogonadism, which do not affect the sense FGF17 https://ghr.nlm.nih.gov/gene/FGF17 db key
of smell. Many people with Kallmann syndrome are not aware that they are unable related-gene gene-symbol ghr-page GTR C2930927
to detect odors until the impairment is discovered through testing. FGFR1 https://ghr.nlm.nih.gov/gene/FGFR1 db key
html:p Kallmann syndrome can have a wide variety of additional signs and symptoms. related-gene gene-symbol ghr-page GeneReviews kms
These include a failure of one kidney to develop (unilateral renal agenesis), FLRT3 https://ghr.nlm.nih.gov/gene/FLRT3 db key
abnormalities of bones in the fingers or toes, a cleft lip with or without an related-gene gene-symbol ghr-page MeSH D017436
opening in the roof of the mouth (a cleft palate), abnormal eye movements, HS6ST1 https://ghr.nlm.nih.gov/gene/HS6ST1 db key
hearing loss, and abnormalities of tooth development. Some affected individuals related-gene gene-symbol ghr-page OMIM 147950
have a feature called bimanual synkinesis, in which the movements of one hand IL17RD https://ghr.nlm.nih.gov/gene/IL17RD db key
are mirrored by the other hand. Bimanual synkinesis can make it difficult to do related-gene gene-symbol ghr-page OMIM 244200
tasks that require the hands to move separately, such as playing a musical NSMF https://ghr.nlm.nih.gov/gene/NSMF db key
instrument. related-gene gene-symbol ghr-page OMIM 308700
PROK2 https://ghr.nlm.nih.gov/gene/PROK2 db key
related-gene gene-symbol ghr-page OMIM 308750
PROKR2 https://ghr.nlm.nih.gov/gene/PROKR2 db key
related-gene gene-symbol ghr-page OMIM 610628
SEMA3A https://ghr.nlm.nih.gov/gene/SEMA3A db key
related-gene gene-symbol ghr-page Orphanet 478
SEMA7A https://ghr.nlm.nih.gov/gene/SEMA7A db key
related-gene gene-symbol ghr-page SNOMED CT 93559003
SOX10 https://ghr.nlm.nih.gov/gene/SOX10
related-gene gene-symbol ghr-page
SPRY4 https://ghr.nlm.nih.gov/gene/SPRY4
related-gene gene-symbol ghr-page
WDR11 https://ghr.nlm.nih.gov/gene/WDR11
related-gene-list
Kaufman oculocerebrofacial syndrome https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome The prevalence of Kaufman oculocerebrofacial syndrome is unknown. At least html:p Kaufman oculocerebrofacial syndrome is a disorder characterized by eye problems ar autosomal recessive UBE3B https://ghr.nlm.nih.gov/gene/UBE3B blepharophimosis-ptosis-intellectual disability syndrome db key 2017-01 2017-12-29
14 affected individuals have been described in the medical literature. (oculo-), intellectual disability (-cerebro-), and a distinctive pattern of BPIDS GTR C1855663
facial features (-facial). KOS db key
html:p Most individuals with Kaufman oculocerebrofacial syndrome have an unusually oculocerebrofacial syndrome, Kaufman type GeneReviews kos
small head size (microcephaly), and some have structural abnormalities of the db key
brain. Affected individuals have weak muscle tone (hypotonia), and are delayed MeSH D000015
in developing motor skills such as walking. Intellectual disability is severe or db key
profound. Most affected individuals never acquire the ability to speak. OMIM 244450
html:p Eye abnormalities and their effect on vision vary among people with Kaufman db key
oculocerebrofacial syndrome. Some people with this disorder have abnormally Orphanet 2707
small or poorly developed eyes (microphthalmia); microcornea, in which the clear db key
front covering of the eye (cornea) is small and abnormally curved; missing SNOMED CT 722056009
pieces of tissue in structures that form the eye (coloboma); or underdevelopment
of the nerves that carry signals between the eyes and the brain (optic nerve
hypoplasia). Eyes that do not look in the same direction (strabismus),
nearsightedness (myopia) or farsightedness (hyperopia), or an inward turning of
the lower eyelid (entropion) can also occur.
html:p Individuals with Kaufman oculocerebrofacial syndrome typically have a
characteristic pattern of facial features. These include highly arched eyebrows,
an increased distance between the inner corners of the eyes (telecanthus), a
narrowing of the eye opening (blepharophimosis), skin folds covering the inner
corner of the eyes (epicanthal folds), droopy eyelids (ptosis), and outside
corners of the eyes that point upward (upslanting palpebral fissures). Ear
abnormalities include low-set ears with small lobes and growths of skin (skin
tags) in front of the ear (preauricular tags). The nose has a narrow bridge, a
wide base, and nostrils that open to the front rather than downward (anteverted
nares). Affected individuals may also have flat cheeks; a space between the nose
and upper lip (philtrum) that is unusually long and smooth; a narrow mouth; and
an unusually small jaw (micrognathia).
html:p Other signs and symptoms that can occur in people with this disorder include
short stature; hearing loss; and abnormalities of the heart, respiratory tract,
gastrointestinal tract, kidneys, genitals, or skeleton. Affected individuals can
live into adulthood; however, their average life expectancy is unknown because
of the small number of people who have been diagnosed with this disorder.
related-gene-list
Kawasaki disease https://ghr.nlm.nih.gov/condition/kawasaki-disease In the United States and other Western countries, Kawasaki disease occurs html:p Kawasaki disease is a sudden and time-limited (acute) illness that affects u pattern unknown ITPKC https://ghr.nlm.nih.gov/gene/ITPKC acute febrile mucocutaneous lymph node syndrome db key 2015-09 2017-12-29
川崎氏病 in approximately 1 in 10,000 children under 5 each year. The condition is 10 to infants and young children. Affected children develop a prolonged fever lasting Kawasaki syndrome GTR C0026691
mucocutaneous lymph node syndrome 20 times more common in East Asia, including Japan, Korea, and Taiwan. several days, a skin rash, and swollen lymph nodes in the neck (cervical KD db key
黏膜皮膚淋巴腺综合征 lymphadenopathy). They also develop redness in the whites of the eyes mucocutaneous lymph node syndrome ICD-10-CM M30.3
(conjunctivitis) and redness (erythema) of the lips, lining of the mouth (oral db key
mucosa), tongue, palms of the hands, and soles of the feet. MeSH D009080
html:p Without treatment, 15 to 25 percent of individuals with Kawasaki disease develop db key
bulging and thinning of the walls of the arteries that supply blood to the OMIM 611775
heart muscle (coronary artery aneurysms) or other damage to the coronary db key
arteries, which can be life-threatening. Orphanet 2331
db key
related-gene-list SNOMED CT 75053002
KBG syndrome https://ghr.nlm.nih.gov/condition/kbg-syndrome KBG syndrome is a rare disorder that has been reported in more than 100 html:p KBG syndrome is a rare disorder that affects several body systems. "KBG" ad autosomal dominant ANKRD11 https://ghr.nlm.nih.gov/gene/ANKRD11 macrodontia, mental retardation, characteristic facies, short stature, and db key 2015-01 2017-12-29
individuals. For unknown reasons, males are affected more often than females. represents the surname initials of the first families diagnosed with the skeletal anomalies GTR C0220687
Doctors think the disorder is underdiagnosed because the signs and symptoms can disorder. Common signs and symptoms in individuals with this condition include short stature-characteristic facies-mental retardation-macrodontia-skeletal db key
be mild and may be attributed to other disorders. unusual facial features, skeletal abnormalities, and intellectual disability. anomalies syndrome MeSH D000015
html:p A characteristic feature of KBG syndrome is unusually large upper front teeth short stature, characteristic facies, macrodontia, mental retardation, and db key
(macrodontia). Other distinctive facial features include a wide, short skull skeletal anomalies OMIM 148050
(brachycephaly), a triangular face shape, widely spaced eyes (hypertelorism), db key
wide eyebrows that may grow together in the middle (synophrys), a prominent Orphanet 2332
nasal bridge, a long space between the nose and upper lip (philtrum), and a thin db key
upper lip. SNOMED CT 711156009
html:p A common skeletal abnormality in people with KBG syndrome is slowed
mineralization of bones (delayed bone age); for example, an affected 3-year-old
child may have bones more typical of a child of 2. In addition, affected
individuals can have abnormalities of the bones of the spine (vertebrae) and
ribs. They can also have abnormalities of the bones of the hands, including
unusually short or curved fifth (pinky) fingers (brachydactyly or clinodactyly,
respectively). Most affected individuals are shorter than average from birth.
html:p Development of mental and movement abilities is also delayed in KBG syndrome.
Most affected individuals learn to speak and walk later than normal and have
mild to moderate intellectual disability. Some people with this condition have
behavioral or emotional problems, such as hyperactivity or anxiety.
html:p Less common features of KBG syndrome include hearing loss, seizures, and heart
defects.
inheritance-pattern-list related-gene-list
KCNK9 imprinting syndrome https://ghr.nlm.nih.gov/condition/kcnk9-imprinting-syndrome KCNK9 imprinting syndrome is a rare condition. At least 19 affected html:p html:i ad autosomal dominant KCNK9 synonym db-key db key 2017-06 2017-12-29
individuals have been described in the medical literature. KCNK9 synonym GTR C2676770
synonym db-key db key
synonym GeneReviews kcnk9-is
synonym db-key db key
MeSH D008607
db-key db key
OMIM 612292
db-key db key
html:p html:i Orphanet 166108
KCNK9
html:p This condition is associated with unusual facial features, including an
elongated face that narrows at the temples; an upper lip that points outward
(called a tented lip); a short, broad space between the lip and the nose
(philtrum); a small lower jaw (micrognathia); and abnormally shaped eyebrows.
Some affected individuals have an opening in the roof of the mouth (cleft
html:i
KCNK9
related-gene-list
Kearns-Sayre syndrome https://ghr.nlm.nih.gov/condition/kearns-sayre-syndrome The prevalence of Kearns-Sayre syndrome is approximately 1 to 3 per 100,000 html:p Kearns-Sayre syndrome is a condition that affects many parts of the body, m mitochondrial mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna Kearns-Sayre mitochondrial cytopathy db key 2011-12 2017-12-29
Kearns-Sayre氏症候群 individuals. especially the eyes. The features of Kearns-Sayre syndrome usually appear before KSS GTR C0022541
age 20, and the condition is diagnosed by a few characteristic signs and db key
symptoms. People with Kearns-Sayre syndrome have progressive external GeneReviews kss
ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs db key
eye movement and causes drooping eyelids (ptosis). Affected individuals also ICD-10-CM H49.81
have an eye condition called pigmentary retinopathy, which results from db key
breakdown (degeneration) of the light-sensing tissue at the back of the eye (the ICD-10-CM H49.811
retina) that gives it a speckled and streaked appearance. The retinopathy may db key
cause loss of vision. In addition, people with Kearns-Sayre syndrome have at ICD-10-CM H49.812
least one of the following signs or symptoms: abnormalities of the electrical db key
signals that control the heartbeat (cardiac conduction defects), problems with ICD-10-CM H49.813
coordination and balance that cause unsteadiness while walking (ataxia), or db key
abnormally high levels of protein in the fluid that surrounds and protects the ICD-10-CM H49.819
brain and spinal cord (the cerebrospinal fluid or CSF). db key
html:p People with Kearns-Sayre syndrome may also experience muscle weakness in their MeSH D007625
limbs, deafness, kidney problems, or a deterioration of cognitive functions db key
(dementia). Affected individuals often have short stature. In addition, diabetes OMIM 530000
mellitus is occasionally seen in people with Kearns-Sayre syndrome. db key
html:p When the muscle cells of affected individuals are stained and viewed under a Orphanet 480
microscope, these cells usually appear abnormal. The abnormal muscle cells db key
contain an excess of structures called mitochondria and are known as ragged-red SNOMED CT 25792000
fibers.
html:p A related condition called ophthalmoplegia-plus may be diagnosed if an
individual has many of the signs and symptoms of Kearns-Sayre syndrome but not
all the criteria are met.
Kenny-Caffey syndrome
Kenny-Caffey 症候群
related-gene-list
Keratitis-ichthyosis-deafness syndrome https://ghr.nlm.nih.gov/condition/keratitis-ichthyosis-deafness-syndrome KID syndrome is a rare disorder. Its prevalence is unknown. Approximately html:p Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, ad autosomal dominant GJB2 https://ghr.nlm.nih.gov/gene/GJB2 ichthyosiform erythroderma, corneal involvement, and deafness db key 2012-11 2017-12-29
100 cases have been reported. skin abnormalities, and hearing loss. code memo keratitis, ichthyosis, and deafness GTR C1275089
html:p People with KID syndrome usually have keratitis, which is inflammation of the ar autosomal recessive KID syndrome db key
front surface of the eye (the cornea). The keratitis may cause pain, increased GTR C1835678
sensitivity to light (photophobia), abnormal blood vessel growth over the cornea db key
(neovascularization), and scarring. Over time, affected individuals experience MeSH D007634
a loss of sharp vision (reduced visual acuity); in severe cases the keratitis db key
can lead to blindness. OMIM 148210
html:p Most people with KID syndrome have thick, hard skin on the palms of the hands db key
and soles of the feet (palmoplantar keratoderma). Affected individuals also have OMIM 242150
thick, reddened patches of skin (erythrokeratoderma) that are dry and scaly db key
(ichthyosis). These dry patches can occur anywhere on the body, although they SNOMED CT 239059004
most commonly affect the neck, groin, and armpits. Breaks in the skin often db key
occur and may lead to infections. In severe cases these infections can be SNOMED CT 403780007
life-threatening, especially in infancy. Approximately 12 percent of people with
KID syndrome develop a type of skin cancer called squamous cell carcinoma,
which may also affect mucous membranes such as the lining of the mouth.
html:p Partial hair loss is a common feature of KID syndrome, and often affects the
eyebrows and eyelashes. Affected individuals may also have small, abnormally
formed nails.
html:p Hearing loss in this condition is usually profound, but occasionally is less
severe.
related-gene-list
Keratoconus https://ghr.nlm.nih.gov/condition/keratoconus Keratoconus is estimated to affect 1 in 500 to 2,000 individuals worldwide. html:p Keratoconus is an eye condition that affects the shape of the cornea, which is ad autosomal dominant CAST https://ghr.nlm.nih.gov/gene/CAST bulging cornea db key 2017-07 2017-12-29
圆锥角膜病 the clear outer covering of the eye. In this condition, the cornea thins and code memo related-gene gene-symbol ghr-page conical cornea GTR C0022578
(Eyes) bulges outward, eventually resembling a cone shape. These corneal abnormalities, ar autosomal recessive COL4A3 https://ghr.nlm.nih.gov/gene/COL4A3 KC db key
which worsen over time, can lead to nearsightedness (myopia), blurred vision code memo related-gene gene-symbol ghr-page GTR C1835677
that cannot be improved with corrective lenses (irregular astigmatism), and n not inherited COL4A4 https://ghr.nlm.nih.gov/gene/COL4A4 db key
vision loss. related-gene gene-symbol ghr-page GTR C3553302
html:p Other corneal changes typical of keratoconus that can be seen during an eye exam COL5A1 https://ghr.nlm.nih.gov/gene/COL5A1 db key
include iron deposits in the cornea that form a yellow-to-brownish ring, called related-gene gene-symbol ghr-page GTR C3553306
the Fleischer ring, surrounding the colored part of the eye (iris). Affected DOCK9 https://ghr.nlm.nih.gov/gene/DOCK9 db key
individuals may also develop Vogt's striae, which are thin, vertical, white related-gene gene-symbol ghr-page GTR C3553307
lines in the tissue at the back of the cornea. FNDC3B https://ghr.nlm.nih.gov/gene/FNDC3B db key
html:p Keratoconus may affect only one eye at first, but eventually the corneas of both related-gene gene-symbol ghr-page GTR C3553308
eyes become misshapen, although they might not be affected with the same FOXO1 https://ghr.nlm.nih.gov/gene/FOXO1 db key
severity. As keratoconus worsens, people with this condition can develop corneal related-gene gene-symbol ghr-page ICD-10-CM H18.6
scarring, often caused by exposure of the abnormally thin cornea to prolonged HGF https://ghr.nlm.nih.gov/gene/HGF db key
contact lens use or excessive eye rubbing. related-gene gene-symbol ghr-page MeSH D007640
html:p The eye changes characteristic of keratoconus typically begin in adolescence and IL1A https://ghr.nlm.nih.gov/gene/IL1A db key
slowly worsen until mid-adulthood at which point the shape of the cornea related-gene gene-symbol ghr-page OMIM 148300
remains stable. IL1RN https://ghr.nlm.nih.gov/gene/IL1RN db key
related-gene gene-symbol ghr-page OMIM 608586
LOX https://ghr.nlm.nih.gov/gene/LOX db key
related-gene gene-symbol ghr-page OMIM 608932
MIR184 https://ghr.nlm.nih.gov/gene/MIR184 db key
related-gene gene-symbol ghr-page OMIM 609271
RAB3GAP1 https://ghr.nlm.nih.gov/gene/RAB3GAP1 db key
related-gene gene-symbol ghr-page OMIM 614622
SLC4A11 https://ghr.nlm.nih.gov/gene/SLC4A11 db key
related-gene gene-symbol ghr-page OMIM 614623
TGFBI https://ghr.nlm.nih.gov/gene/TGFBI db key
related-gene gene-symbol ghr-page OMIM 614628
VSX1 https://ghr.nlm.nih.gov/gene/VSX1 db key
related-gene gene-symbol ghr-page OMIM 614629
WNT10A https://ghr.nlm.nih.gov/gene/WNT10A db key
related-gene gene-symbol ghr-page Orphanet 2335
ZEB1 https://ghr.nlm.nih.gov/gene/ZEB1 db key
related-gene gene-symbol ghr-page SNOMED CT 65636009
ZNF469 https://ghr.nlm.nih.gov/gene/ZNF469
related-gene-list
Keratoderma with woolly hair https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair Keratoderma with woolly hair is rare; its prevalence worldwide is html:p Keratoderma with woolly hair is a group of related conditions that affect the ar autosomal recessive DSC2 https://ghr.nlm.nih.gov/gene/DSC2 KWWH db key 2015-11 2017-12-29
unknown.Type I (Naxos disease) was first described in families from the Greek skin and hair and in many cases increase the risk of potentially related-gene gene-symbol ghr-page GTR C1832600
island of Naxos. Since then, affected families have been found in other Greek life-threatening heart problems. People with these conditions have hair that is DSP https://ghr.nlm.nih.gov/gene/DSP db key
islands, Turkey, and the Middle East. This form of the condition may affect up unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also related-gene gene-symbol ghr-page GTR C1864850
to 1 in 1,000 people from the Greek islands.Type II (Carvajal syndrome), type sparse. The woolly hair texture typically affects only scalp hair and is JUP https://ghr.nlm.nih.gov/gene/JUP db key
III, and type IV have each been identified in only a small number of families present from birth. Starting early in life, affected individuals also develop related-gene gene-symbol ghr-page GTR C4014393
worldwide. palmoplantar keratoderma, a condition that causes skin on the palms of the hands KANK2 https://ghr.nlm.nih.gov/gene/KANK2 db key
and the soles of the feet to become thick, scaly, and calloused. GTR C4015202
html:p Cardiomyopathy, which is a disease of the heart muscle, is a life-threatening db key
health problem that can develop in people with keratoderma with woolly hair. GeneReviews arvd
Unlike the other features of this condition, signs and symptoms of db key
cardiomyopathy may not appear until adolescence or later. Complications of GeneReviews dcm-ov
cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, db key
and sudden death. MeSH D006201
html:p Keratoderma with woolly hair comprises several related conditions with db key
overlapping signs and symptoms. Researchers have recently proposed classifying MeSH D006331
keratoderma with woolly hair into four types, based on the underlying genetic db key
cause. Type I, also known as Naxos disease, is characterized by palmoplantar MeSH D007645
keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic db key
right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal OMIM 601214
syndrome, has hair and skin abnormalities similar to type I but features a db key
different form of cardiomyopathy, called dilated left ventricular OMIM 605676
cardiomyopathy. Type III also has signs and symptoms similar to those of type I, db key
including ARVC, although the hair and skin abnormalities are often milder. Type OMIM 610476
IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as db key
well as abnormal fingernails and toenails. Type IV does not appear to cause OMIM 615821
cardiomyopathy. db key
OMIM 616099
db key
Orphanet 34217
db key
Orphanet 420686
db key
Orphanet 65282
db key
related-gene-list SNOMED CT 52564001
Kindler syndrome https://ghr.nlm.nih.gov/condition/kindler-syndrome Kindler syndrome appears to be rare. About 250 cases have been reported html:p Kindler syndrome is a rare type of epidermolysis bullosa, which is a group of ar autosomal recessive FERMT1 https://ghr.nlm.nih.gov/gene/FERMT1 congenital bullous poikiloderma db key 2016-06 2017-12-29
金德勒綜合症 worldwide. genetic conditions that cause the skin to be very fragile and to blister easily. Kindler's syndrome GTR C0406557
(Skin) html:p From early infancy, people with Kindler syndrome have skin blistering, poikiloderma of Kindler db key
particularly on the backs of the hands and the tops of the feet. The blisters GeneReviews kindler
occur less frequently over time, although repeated blistering on the hands can db key
cause scarring that fuses the skin between the fingers and between the toes. MeSH D004820
Affected individuals also develop thin, papery skin starting on the hands and db key
feet and later affecting other parts of the body. Other skin abnormalities that OMIM 173650
occur with Kindler syndrome include patchy changes in skin coloring and small db key
clusters of blood vessels just under the skin (telangiectases), a combination Orphanet 2908
known as poikiloderma. In some affected individuals, the skin on the palms of db key
the hands and soles of the feet thickens and hardens (hyperkeratosis). Kindler SNOMED CT 238836000
syndrome can also cause people to be highly sensitive to ultraviolet (UV) rays
from the sun and to sunburn easily.
html:p Kindler syndrome can also affect the moist lining (mucosae) of the mouth, eyes,
esophagus, intestines, genitals, and urinary system, causing these tissues to be
very fragile and easily damaged. Affected individuals commonly develop severe
gum disease that can lead to early tooth loss. The moist tissues that line the
eyelids and the white part of the eyes (the conjunctiva) can become inflamed
(conjunctivitis), and damage to the clear outer covering of the eye (the cornea)
can affect vision. Narrowing (stenosis) of the esophagus, which is the tube
that carries food from the mouth to the stomach, causes difficulty with
swallowing that worsens over time. Some affected individuals develop health
problems related to inflammation of the colon (colitis) or damage to the mucosa
in the vagina, the anus, or the tube that carries urine from the bladder out of
the body (the urethra).
html:p Kindler syndrome increases the risk of developing a form of cancer called
squamous cell carcinoma. This type of cancer arises from squamous cells, which
are found in the outer layer of skin (the epidermis) and in the mucosae. In
people with Kindler syndrome, squamous cell carcinoma occurs most often on the
skin, lips, and the lining of the mouth (oral mucosa).
related-gene-list
Kleefstra syndrome https://ghr.nlm.nih.gov/condition/kleefstra-syndrome The prevalence of Kleefstra syndrome is unknown. Only recently has testing html:p Kleefstra syndrome is a disorder that involves many parts of the body. ad autosomal dominant EHMT1 https://ghr.nlm.nih.gov/gene/EHMT1 9q subtelomeric deletion syndrome db key 2016-01 2017-12-29
Kleefstra综合征 become available to distinguish it from other disorders with similar features. Characteristic features of Kleefstra syndrome include developmental delay and related-chromosome name ghr-page 9q- syndrome GTR C0795833
intellectual disability, severely limited or absent speech, and weak muscle tone 9 https://ghr.nlm.nih.gov/chromosome/9 9q34.3 deletion syndrome db key
(hypotonia). Affected individuals also have an unusually small head size 9q34.3 microdeletion syndrome GeneReviews kleefstra
(microcephaly) and a wide, short skull (brachycephaly). Distinctive facial chromosome 9q deletion syndrome db key
features include eyebrows that grow together in the middle (synophrys), widely MeSH D025063
spaced eyes (hypertelorism), a sunken appearance of the middle of the face db key
(midface hypoplasia), nostrils that open to the front rather than downward OMIM 610253
(anteverted nares), a protruding jaw (prognathism), rolled out (everted) lips, db key
and a large tongue (macroglossia). Affected individuals may have a high birth Orphanet 261494
weight and childhood obesity. db key
html:p People with Kleefstra syndrome may also have structural brain abnormalities, SNOMED CT 43420005
congenital heart defects, genitourinary abnormalities, seizures, and a tendency
to develop severe respiratory infections. During childhood they may exhibit
features of autism or related developmental disorders affecting communication
and social interaction. In adolescence, they may develop a general loss of
interest and enthusiasm (apathy) or unresponsiveness (catatonia).
related-gene-list
Klinefelter syndrome https://ghr.nlm.nih.gov/condition/klinefelter-syndrome Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants html:p Klinefelter syndrome is a chromosomal condition that affects male physical and n not inherited X https://ghr.nlm.nih.gov/chromosome/X Klinefelter's syndrome db key 2013-01 2017-12-29
Klinefelter's Syndrome of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer cognitive development. Its signs and symptoms vary among affected individuals. XXY syndrome GTR C0022735
柯林菲特氏症 newborns.Researchers suspect that Klinefelter syndrome is underdiagnosed because html:p Affected individuals typically have small testes that do not produce as much XXY trisomy db key
the condition may not be identified in people with mild signs and symptoms. testosterone as usual. Testosterone is the hormone that directs male sexual ICD-10-CM Q98.0
Additionally, the features of the condition vary and overlap significantly with development before birth and during puberty. A shortage of testosterone can lead db key
those of other conditions. to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced ICD-10-CM Q98.1
facial and body hair, and an inability to have biological children db key
(infertility). Some affected individuals also have genital differences including ICD-10-CM Q98.4
undescended testes (cryptorchidism), the opening of the urethra on the db key
underside of the penis (hypospadias), or an unusually small penis (micropenis). MeSH D007713
html:p Older children and adults with Klinefelter syndrome tend to be taller than their db key
peers. Compared with unaffected men, adults with Klinefelter syndrome have an Orphanet 484
increased risk of developing breast cancer and a chronic inflammatory disease db key
called systemic lupus erythematosus. Their chance of developing these disorders SNOMED CT 205700008
is similar to that of women in the general population. db key
html:p Children with Klinefelter syndrome may have learning disabilities and delayed SNOMED CT 22053006
speech and language development. They tend to be quiet, sensitive, and db key
unassertive, but personality characteristics vary among affected individuals. SNOMED CT 38847009
db key
related-gene-list SNOMED CT 405769009
Klippel-Feil syndrome https://ghr.nlm.nih.gov/condition/klippel-feil-syndrome Klippel-Feil syndrome is estimated to occur in 1 in 40,000 to 42,000 html:p Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining ad autosomal dominant GDF3 https://ghr.nlm.nih.gov/gene/GDF3 cervical fusion syndrome db key 2015-06 2017-12-29
Klippel-Feil综合征 newborns worldwide. Females seem to be affected slightly more often than males. (fusion) of two or more spinal bones in the neck (cervical vertebrae). The code memo related-gene gene-symbol ghr-page cervical vertebral fusion GTR C0022738
vertebral fusion is present from birth. Three major features result from this ar autosomal recessive GDF6 https://ghr.nlm.nih.gov/gene/GDF6 cervical vertebral fusion syndrome db key
vertebral fusion: a short neck, the resulting appearance of a low hairline at related-gene gene-symbol ghr-page congenital dystrophia brevicollis GTR C1859209
the back of the head, and a limited range of motion in the neck. Most affected MEOX1 https://ghr.nlm.nih.gov/gene/MEOX1 dystrophia brevicollis congenita db key
people have one or two of these characteristic features. Less than half of all fusion of cervical vertebrae GTR C1861689
individuals with Klippel-Feil syndrome have all three classic features of this KFS db key
condition. Klippel-Feil deformity GTR C3150967
html:p In people with Klippel-Feil syndrome, the fused vertebrae can limit the range of Klippel-Feil sequence db key
movement of the neck and back as well as lead to chronic headaches and muscle vertebral cervical fusion syndrome ICD-10-CM Q76.1
pain in the neck and back that range in severity. People with minimal bone db key
involvement often have fewer problems compared to individuals with several MeSH D007714
vertebrae affected. The shortened neck can cause a slight difference in the size db key
and shape of the right and left sides of the face (facial asymmetry). Trauma to OMIM 118100
the spine, such as a fall or car accident, can aggravate problems in the fused db key
area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or OMIM 214300
back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing db key
of the spinal canal (spinal stenosis) in the neck, which can compress and damage OMIM 613702
the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal db key
sensations or involuntary movements in people with Klippel-Feil syndrome. Orphanet 2345
Affected individuals may develop a painful joint disorder called osteoarthritis db key
around the areas of fused bone or experience painful involuntary tensing of the SNOMED CT 5601008
neck muscles (cervical dystonia). In addition to the fused cervical bones,
people with this condition may have abnormalities in other vertebrae. Many
people with Klippel-Feil syndrome have abnormal side-to-side curvature of the
spine (scoliosis) due to malformation of the vertebrae; fusion of additional
vertebrae below the neck may also occur.
html:p People with Klippel-Feil syndrome may have a wide variety of other features in
addition to their spine abnormalities. Some people with this condition have
hearing difficulties, eye abnormalities, an opening in the roof of the mouth
(cleft palate), genitourinary problems such as abnormal kidneys or reproductive
organs, heart abnormalities, or lung defects that can cause breathing problems.
Affected individuals may have other skeletal defects including arms or legs of
unequal length (limb length discrepancy), which can result in misalignment of
the hips or knees. Additionally, the shoulder blades may be underdeveloped so
that they sit abnormally high on the back, a condition called Sprengel
deformity. Rarely, structural brain abnormalities or a type of birth defect that
occurs during the development of the brain and spinal cord (neural tube defect)
can occur in people with Klippel-Feil syndrome.
html:p In some cases, Klippel-Feil syndrome occurs as a feature of another disorder or
syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these
instances, affected individuals have the signs and symptoms of both Klippel-Feil
syndrome and the additional disorder.
related-gene-list
Klippel-Trenaunay syndrome, KTS https://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 html:p Klippel-Trenaunay syndrome is a condition that affects the development of blood n not inherited PIK3CA https://ghr.nlm.nih.gov/gene/PIK3CA angio-osteohypertrophy syndrome db key 2016-07 2017-12-29
克-特二氏综合征 people worldwide. vessels, soft tissues (such as skin and muscles), and bones. The disorder has congenital dysplastic angiopathy GTR C0022739
先天性靜脈畸形骨肥大症候群 three characteristic features: a red birthmark called a port-wine stain, Klippel-Trenaunay disease db key
abnormal overgrowth of soft tissues and bones, and vein malformations. KTS MeSH D007715
html:p Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. db key
This type of birthmark is caused by swelling of small blood vessels near the OMIM 149000
surface of the skin. Port-wine stains are typically flat and can vary from pale db key
pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the Orphanet 2346
port-wine stain usually covers part of one limb. The affected area may become db key
lighter or darker with age. Occasionally, port-wine stains develop small red SNOMED CT 721105004
blisters that break open and bleed easily.
html:p Klippel-Trenaunay syndrome is also associated with overgrowth of bones and soft
tissues beginning in infancy. Usually this abnormal growth is limited to one
limb, most often one leg. However, overgrowth can also affect the arms or,
rarely, the torso. The abnormal growth can cause pain, a feeling of heaviness,
and reduced movement in the affected area. If the overgrowth causes one leg to
be longer than the other, it can also lead to problems with walking.
html:p Malformations of veins are the third major feature of Klippel-Trenaunay
syndrome. These abnormalities include varicose veins, which are swollen and
twisted veins near the surface of the skin that often cause pain. Varicose veins
usually occur on the sides of the upper legs and calves. Veins deep in the
limbs can also be abnormal in people with Klippel-Trenaunay syndrome.
Malformations of deep veins increase the risk of a type of blood clot called a
deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges
in the lungs, it can cause a life-threatening blood clot known as a pulmonary
embolism (PE).
html:p Other complications of Klippel-Trenaunay syndrome can include a type of skin
infection called cellulitis, swelling caused by a buildup of fluid (lymphedema),
and internal bleeding from abnormal blood vessels. Less commonly, this
condition is also associated with fusion of certain fingers or toes (syndactyly)
or the presence of extra digits (polydactyly).
related-gene-list
Kniest dysplasia https://ghr.nlm.nih.gov/condition/kniest-dysplasia Kniest dysplasia is a rare condition; the exact incidence is unknown. html:p Kniest dysplasia is a disorder of bone growth characterized by short stature ad autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 Kniest chondrodystrophy db key 2008-07 2017-12-29
(dwarfism) with other skeletal abnormalities and problems with vision and Kniest syndrome GTR C0265279
hearing. Metatropic dwarfism, type II db key
html:p People with Kniest dysplasia are born with a short trunk and shortened arms and Metatropic dysplasia type II MeSH D003095
legs. Adult height ranges from 42 inches to 58 inches. Affected individuals Swiss cheese cartilage dysplasia db key
have abnormally large joints that can cause pain and restrict movement, limiting MeSH D010009
physical activity. These joint problems can also lead to arthritis. Other db key
skeletal features may include a rounded upper back that also curves to the side OMIM 156550
(kyphoscoliosis), severely flattened bones of the spine (platyspondyly), db key
dumbbell-shaped bones in the arms and legs, long and knobby fingers, and an Orphanet 485
inward- and upward-turning foot (clubfoot). db key
html:p Individuals with Kniest dysplasia have a round, flat face with bulging and SNOMED CT 53974002
wide-set eyes. Some affected infants are born with an opening in the roof of
the mouth called a cleft palate. Infants may also have breathing problems due
to weakness of the windpipe. Severe nearsightedness (myopia) and other eye
problems are common in Kniest dysplasia. Some eye problems, such as tearing of
the back lining of the eye (retinal detachment), can lead to blindness. Hearing
loss resulting from recurrent ear infections is also possible.
related-gene-list
Knobloch syndrome https://ghr.nlm.nih.gov/condition/knobloch-syndrome Knobloch syndrome is a rare condition. However, the exact prevalence of the html:p Knobloch syndrome is a rare condition characterized by severe vision problems ar autosomal recessive COL18A1 https://ghr.nlm.nih.gov/gene/COL18A1 retinal detachment and occipital encephalocele db key 2011-06 2017-12-29
condition is unknown. and a skull defect. GTR C1849409
html:p A characteristic feature of Knobloch syndrome is extreme nearsightedness (high db key
myopia). In addition, several other eye abnormalities are common in people with MeSH D012164
this condition. Most affected individuals have vitreoretinal degeneration, which db key
is breakdown (degeneration) of two structures in the eye called the vitreous OMIM 267750
and the retina. The vitreous is the gelatin-like substance that fills the eye, db key
and the retina is the light-sensitive tissue at the back of the eye. Orphanet 1571
Vitreoretinal degeneration often leads to separation of the retina from the back db key
of the eye (retinal detachment). Affected individuals may also have SNOMED CT 703542000
abnormalities in the central area of the retina, called the macula. The macula
is responsible for sharp central vision, which is needed for detailed tasks such
as reading, driving, and recognizing faces. Due to abnormalities in the
vitreous, retina, and macula, people with Knobloch syndrome often develop
blindness in one or both eyes.
html:p Another characteristic feature of Knobloch syndrome is a skull defect called an
occipital encephalocele, which is a sac-like protrusion of the brain
(encephalocele) through a defect in the bone at the base of the skull (occipital
bone). Some affected individuals have been diagnosed with a different skull
defect in the occipital region, and it is unclear whether the defect is always a
true encephalocele. In other conditions, encephaloceles may be associated with
intellectual disability; however, most people with Knobloch syndrome have normal
intelligence.
related-gene-list
Koolen-de Vries syndrome https://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome The prevalence of Koolen-de Vries syndrome is estimated to be 1 in 16,000. html:p Koolen-de Vries syndrome is a disorder characterized by developmental delay and ad autosomal dominant KANSL1 https://ghr.nlm.nih.gov/gene/KANSL1 17q21.31 deletion syndrome db key 2013-03 2017-12-29
However, the underlying genetic cause is often not identified in people with mild to moderate intellectual disability. People with this disorder typically related-chromosome name ghr-page 17q21.31 microdeletion syndrome GTR C1864871
intellectual disability, so this condition is likely underdiagnosed. have a disposition that is described as cheerful, sociable, and cooperative. 17 https://ghr.nlm.nih.gov/chromosome/17 chromosome 17q21.31 microdeletion syndrome db key
They usually have weak muscle tone (hypotonia) in childhood. About half have KANSL1-related intellectual disability syndrome GeneReviews mdel17q21_31
recurrent seizures (epilepsy). KDVS db key
html:p Affected individuals often have distinctive facial features including a high, Koolen syndrome MeSH D025063
broad forehead; droopy eyelids (ptosis); a narrowing of the eye openings microdeletion 17q21.31 syndrome db key
(blepharophimosis); outer corners of the eyes that point upward (upward-slanting monosomy 17q21.31 OMIM 610443
palpebral fissures); skin folds covering the inner corner of the eyes db key
(epicanthal folds); a bulbous nose; and prominent ears. Males with Koolen-de Orphanet 96169
Vries syndrome often have undescended testes (cryptorchidism). Defects in the db key
walls between the chambers of the heart (septal defects) or other cardiac SNOMED CT 717338006
abnormalities, kidney problems, and skeletal anomalies such as foot deformities
occur in some affected individuals.
related-gene-list
Krabbe disease https://ghr.nlm.nih.gov/condition/krabbe-disease In the United States, Krabbe disease affects about 1 in 100,000 html:p Krabbe disease (also called globoid cell leukodystrophy) is a degenerative ar autosomal recessive GALC https://ghr.nlm.nih.gov/gene/GALC Diffuse Globoid Body Sclerosis db key 2012-08 2017-12-29
Krabbe氏症 individuals. A higher incidence (6 cases per 1,000 people) has been reported in disorder that affects the nervous system. It is caused by the shortage Galactosylceramidase Deficiency Disease GTR C0023521
Globoid Cell Leukodystrophy a few isolated communities in Israel. (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency Galactosylceramide lipidosis db key
球細胞腦白質失養症(Krabbe氏症) impairs the growth and maintenance of myelin, the protective covering around galactosylcerebrosidase deficiency GeneReviews krabbe
certain nerve cells that ensures the rapid transmission of nerve impulses. galactosylsphingosine lipidosis db key
Krabbe disease is part of a group of disorders known as leukodystrophies, which GALC deficiency ICD-10-CM E75.23
result from the loss of myelin (demyelination). This disorder is also GCL db key
characterized by the abnormal presence of globoid cells, which are globe-shaped GLD MeSH D007965
cells that usually have more than one nucleus. psychosine lipidosis db key
html:p The symptoms of Krabbe disease usually begin before the age of 1 year (the OMIM 245200
infantile form). Initial signs and symptoms typically include irritability, db key
muscle weakness, feeding difficulties, episodes of fever without any sign of Orphanet 487
infection, stiff posture, and slowed mental and physical development. As the db key
disease progresses, muscles continue to weaken, affecting the infant's ability SNOMED CT 189979005
to move, chew, swallow, and breathe. Affected infants also experience vision db key
loss and seizures. SNOMED CT 192782005
html:p Less commonly, onset of Krabbe disease can occur in childhood, adolescence, or db key
adulthood (late-onset forms). Visual problems and walking difficulties are the SNOMED CT 41142009
most common initial symptoms in this form of the disorder, however, signs and
symptoms vary considerably among affected individuals.
related-gene-list
Kuskokwim syndrome https://ghr.nlm.nih.gov/condition/kuskokwim-syndrome Kuskokwim syndrome is extremely rare. It affects a small number of people html:p Kuskokwim syndrome is characterized by joint deformities called contractures ar autosomal recessive FKBP10 https://ghr.nlm.nih.gov/gene/FKBP10 arthrogryposis-like syndrome db key 2013-11 2017-12-29
Kuskokwim綜合症 from the Yup'ik Eskimo population in southwest Alaska. that restrict the movement of affected joints. This condition has been found Bruck syndrome 1 GTR C1850168
only in a population of native Alaskans known as Yup'ik Eskimos, who live in and Kuskokwim disease db key
around a region of southwest Alaska known as the Kuskokwim River Delta. MeSH D001176
html:p In Kuskokwim syndrome, contractures most commonly affect the knees, ankles, and db key
elbows, although other joints, particularly of the lower body, can be affected. Orphanet 1149
The contractures are usually present at birth and worsen during childhood. They db key
tend to stabilize after childhood, and they remain throughout life. SNOMED CT 702447002
html:p Some individuals with this condition have other bone abnormalities, most
commonly affecting the spine, pelvis, and feet. Affected individuals can develop
an inward curve of the lower back (lordosis), a spine that curves to the side
(scoliosis), wedge-shaped spinal bones, or an abnormality of the collarbones
(clavicles) described as clubbing. Affected individuals are typically shorter
than their peers and they may have an abnormally large head (macrocephaly).
related-gene-list
L1 syndrome https://ghr.nlm.nih.gov/condition/l1-syndrome The prevalence of L1 syndrome overall is unknown; however, HSAS is html:p L1 syndrome describes a group of conditions that primarily affect the nervous x X-linked L1CAM https://ghr.nlm.nih.gov/gene/L1CAM adducted thumbs-mental retardation syndrome db key 2017-04 2017-12-29
estimated to affect 1 in 30,000 males. system and occur almost exclusively in males. These conditions vary in severity corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic GTR C0265216
and include, from most severe to least, X-linked hydrocephalus with stenosis of paraplegia, hydrocephalus syndrome db key
the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and CRASH syndrome GTR C0795953
X-linked complicated corpus callosum agenesis. mental retardation-clasped thumb syndrome db key
html:p HSAS is an acronym for the characteristic features of the condition: a buildup X-linked hydrocephalus syndrome GTR C1839909
of fluid in the brain (hydrocephalus) that is often present from before birth, db key
muscle stiffness (spasticity), thumbs that are permanently bent toward the palms GTR CN118845
(adducted thumbs), and narrowing (stenosis) of a passageway in the brain called db key
the aqueduct of Sylvius. In individuals with HSAS, stenosis of the aqueduct of GeneReviews hsp
Sylvius causes hydrocephalus by impeding the flow of cerebrospinal fluid (CSF) db key
out of fluid-filled cavities called ventricles. Individuals with HSAS often have GeneReviews l1cam
severe intellectual disability and may have seizures. db key
html:p MASA syndrome is also named for the characteristic features of the condition, MeSH D015419
which are intellectual disability (mental retardation) that can range from mild db key
to moderate, delayed speech (aphasia), spasticity, and adducted thumbs. OMIM 303350
Individuals with MASA syndrome may have mild enlargement of the ventricles. db key
html:p Spastic paraplegia type 1 is characterized by progressive muscle stiffness OMIM 304100
(spasticity) and the development of paralysis of the limbs (paraplegia). db key
Affected individuals also have mild to moderate intellectual disability. People OMIM 307000
with spastic paraplegia type 1 do not usually have major abnormalities in db key
structures of the brain. Orphanet 2466
html:p X-linked complicated corpus callosum agenesis is defined by underdevelopment db key
(hypoplasia) or absence (agenesis) of the tissue that connects the left and Orphanet 275543
right halves of the brain (the corpus callosum). People with this condition can db key
have spastic paraplegia and mild to moderate intellectual disability. SNOMED CT 302882002
html:p The life expectancy of individuals with L1 syndrome varies depending on the db key
severity of the signs and symptoms. Severely affected individuals may survive SNOMED CT 716996008
only a short time after birth, while those with mild features live into db key
adulthood. SNOMED CT 71779008
html:p The conditions that make up L1 syndrome were once thought to be distinct
disorders, but since they were found to share a genetic cause, they are now
considered to be part of the same syndrome. Family members with L1 syndrome
caused by the same mutation may have different forms of the condition.
related-gene-list
Lacrimo-auriculo-dento-digital syndrome https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome LADD syndrome appears to be a rare condition; at least 60 cases have been html:p Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly ad autosomal dominant FGF10 https://ghr.nlm.nih.gov/gene/FGF10 lacrimoauriculodentodigital syndrome db key 2013-06 2017-12-29
described in the scientific literature. affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by related-gene gene-symbol ghr-page LADD syndrome GTR C0265269
defects in the tear-producing lacrimal system (lacrimo-), ear problems FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 Levy-Hollister syndrome db key
(auriculo-), dental abnormalities (dento-), and deformities of the fingers related-gene gene-symbol ghr-page MeSH D019465
(digital). FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 db key
html:p The lacrimal system consists of structures in the eye that produce and secrete OMIM 149730
tears. Lacrimal system malformations that can occur with LADD syndrome include db key
an underdeveloped or absent opening to the tear duct at the edge of the eyelid Orphanet 2363
(lacrimal puncta) and blockage of the channel (nasolacrimal duct) that connects db key
the inside corner of the eye where tears gather (tear sac) to the nasal cavity. SNOMED CT 23817003
These malformations of the lacrimal system can lead to chronic tearing
(epiphora), inflammation of the tear sac (dacryocystitis), inflammation of the
front surface of the eye (keratoconjunctivitis), or an inability to produce
tears.
html:p Ears that are low-set and described as cup-shaped, often accompanied by hearing
loss, are a common feature of LADD syndrome. The hearing loss may be mild to
severe and can be caused by changes in the inner ear (sensorineural deafness),
changes in the middle ear (conductive hearing loss), or both (mixed hearing
loss).
html:p People with LADD syndrome may have underdeveloped or absent salivary glands,
which impairs saliva production. A decrease in saliva leads to dry mouth
(xerostomia) and a greater susceptibility to cavities. Individuals with LADD
syndrome often have small, underdeveloped teeth with thin enamel and peg-shaped
front teeth (incisors).
html:p Hand deformities are also a frequent feature of LADD syndrome. Affected
individuals may have abnormally small or missing thumbs. Alternatively, the
thumb might be duplicated, fused with the index finger (syndactyly), abnormally
placed, or have three bones instead of the normal two and resemble a finger.
Abnormalities of the fingers include syndactyly of the second and third fingers,
extra or missing fingers, and curved pinky fingers (fifth finger clinodactyly).
Sometimes, the forearm is also affected. It can be shorter than normal with
abnormal wrist and elbow joint development that limits movement.
html:p People with LADD syndrome may also experience other signs and symptoms. They can
have kidney problems that include hardening of the kidneys (nephrosclerosis)
and urine accumulation in the kidneys (hydronephrosis), which can impair kidney
function. Recurrent urinary tract infections and abnormalities of the
genitourinary system can also occur. Some people with LADD syndrome have an
opening in the roof of the mouth (cleft palate) with or without a split in the
upper lip (cleft lip). The signs and symptoms of this condition vary widely,
even among affected family members.
related-gene-list
Lactate dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency Lactate dehydrogenase deficiency is a rare disorder. In Japan, this html:p Lactate dehydrogenase deficiency is a condition that affects how the body breaks ar autosomal recessive LDHA https://ghr.nlm.nih.gov/gene/LDHA deficiency of lactate dehydrogenase db key 2012-02 2017-12-29
(Metabolic) condition affects 1 in 1 million individuals; the prevalence of lactate down sugar to use as energy in cells, primarily muscle cells. related-gene gene-symbol ghr-page lactate dehydrogenase subunit deficiencies GTR C1835592
dehydrogenase deficiency in other countries is unknown. html:p There are two types of this condition: lactate dehydrogenase-A deficiency LDHB https://ghr.nlm.nih.gov/gene/LDHB LDH deficiency db key
(sometimes called glycogen storage disease XI) and lactate dehydrogenase-B GTR C2752022
deficiency. db key
html:p People with lactate dehydrogenase-A deficiency experience fatigue, muscle pain, MeSH D002239
and cramps during exercise (exercise intolerance). In some people with lactate db key
dehydrogenase-A deficiency, high-intensity exercise or other strenuous activity OMIM 612933
leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of db key
muscle tissue releases a protein called myoglobin, which is processed by the OMIM 614128
kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to db key
be red or brown. This protein can also damage the kidneys, in some cases Orphanet 2364
leading to life-threatening kidney failure. Some people with lactate db key
dehydrogenase-A deficiency develop skin rashes. The severity of the signs and SNOMED CT 124115002
symptoms among individuals with lactate dehydrogenase-A deficiency varies db key
greatly. SNOMED CT 124116001
html:p People with lactate dehydrogenase-B deficiency typically do not have any signs db key
or symptoms of the condition. They do not have difficulty with physical activity SNOMED CT 124141008
or any specific physical features related to the condition. Affected db key
individuals are usually discovered only when routine blood tests reveal reduced SNOMED CT 237982007
lactate dehydrogenase activity. db key
related-gene-list SNOMED CT 55783001
Lactose intolerance https://ghr.nlm.nih.gov/condition/lactose-intolerance Lactose intolerance in infancy resulting from congenital lactase deficiency html:p Lactose intolerance is an impaired ability to digest lactose, a sugar found in ad autosomal dominant LCT https://ghr.nlm.nih.gov/gene/LCT alactasia db key 2010-05 2017-12-29
乳糖不耐 is a rare disorder. Its incidence is unknown. This condition is most common in milk and other dairy products. Lactose is normally broken down by an enzyme code memo related-gene gene-symbol ghr-page dairy product intolerance GTR C0268179
Finland, where it affects an estimated 1 in 60,000 newborns.Approximately 65 called lactase, which is produced by cells in the lining of the small intestine. ar autosomal recessive MCM6 https://ghr.nlm.nih.gov/gene/MCM6 hypolactasia db key
percent of the human population has a reduced ability to digest lactose after html:p Congenital lactase deficiency, also called congenital alactasia, is a disorder lactose malabsorption GTR C0268181
infancy. Lactose intolerance in adulthood is most prevalent in people of East in which infants are unable to break down lactose in breast milk or formula. milk sugar intolerance db key
Asian descent, affecting more than 90 percent of adults in some of these This form of lactose intolerance results in severe diarrhea. If affected infants ICD-10-CM E73
communities. Lactose intolerance is also very common in people of West African, are not given a lactose-free infant formula, they may develop severe db key
Arab, Jewish, Greek, and Italian descent.The prevalence of lactose intolerance dehydration and weight loss. ICD-10-CM E73.0
is lowest in populations with a long history of dependence on unfermented milk html:p Lactose intolerance in adulthood is caused by reduced production of lactase db key
products as an important food source. For example, only about 5 percent of after infancy (lactase nonpersistence). If individuals with lactose intolerance ICD-10-CM E73.1
people of Northern European descent are lactose intolerant. consume lactose-containing dairy products, they may experience abdominal pain, db key
bloating, flatulence, nausea, and diarrhea beginning 30 minutes to 2 hours ICD-10-CM E73.8
later. db key
html:p Most people with lactase nonpersistence retain some lactase activity and can ICD-10-CM E73.9
include varying amounts of lactose in their diets without experiencing symptoms. db key
Often, affected individuals have difficulty digesting fresh milk but can eat MeSH D007787
certain dairy products such as cheese or yogurt without discomfort. These foods db key
are made using fermentation processes that break down much of the lactose in OMIM 223000
milk. db key
OMIM 223100
db key
SNOMED CT 267425008
db key
SNOMED CT 38032004
db key
related-gene-list SNOMED CT 5388008
Lafora progressive myoclonus epilepsy https://ghr.nlm.nih.gov/condition/lafora-progressive-myoclonus-epilepsy The prevalence of Lafora progressive myoclonus epilepsy is unknown. html:p Lafora progressive myoclonus epilepsy is a brain disorder characterized by ar autosomal recessive EPM2A https://ghr.nlm.nih.gov/gene/EPM2A epilepsy, progressive myoclonic, Lafora db key 2016-08 2017-12-29
肌陣攣性癲癇 Although the condition occurs worldwide, it appears to be most common in recurrent seizures (epilepsy) and a decline in intellectual function. The signs related-gene gene-symbol ghr-page Lafora body disease GTR C0751783
Lafora Mediterranean countries (including Spain, France, and Italy), parts of Central and symptoms of the disorder usually appear in late childhood or adolescence and NHLRC1 https://ghr.nlm.nih.gov/gene/NHLRC1 Lafora disease db key
Asia, India, Pakistan, North Africa, and the Middle East. worsen with time. Lafora progressive myoclonic epilepsy GeneReviews lafora
html:p Myoclonus is a term used to describe episodes of sudden, involuntary muscle Lafora type progressive myoclonic epilepsy db key
jerking or twitching that can affect part of the body or the entire body. myoclonic epilepsy of Lafora MeSH D020192
Myoclonus can occur when an affected person is at rest, and it is made worse by progressive myoclonic epilepsy type 2 db key
motion, excitement, or flashing light (photic stimulation). In the later stages progressive myoclonus epilepsy, Lafora type OMIM 254780
of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously db key
and affects the entire body. Orphanet 501
html:p Several types of seizures commonly occur in people with Lafora progressive db key
myoclonus epilepsy. Generalized tonic-clonic seizures (also known as grand mal SNOMED CT 230425004
seizures) affect the entire body, causing muscle rigidity, convulsions, and loss
of consciousness. Affected individuals may also experience occipital seizures,
which can cause temporary blindness and visual hallucinations. Over time, the
seizures worsen and become more difficult to treat. A life-threatening seizure
condition called status epilepticus may also develop. Status epilepticus is a
continuous state of seizure activity lasting longer than several minutes.
html:p About the same time seizures begin, intellectual function starts to decline.
Behavioral changes, depression, confusion, and speech difficulties (dysarthria)
are among the early signs and symptoms of this disorder. As the condition
worsens, a continued loss of intellectual function (dementia) impairs memory,
judgment, and thought. Affected people lose the ability to perform the
activities of daily living by their mid-twenties, and they ultimately require
comprehensive care. People with Lafora progressive myoclonus epilepsy generally
survive up to 10 years after symptoms first appear.
related-gene-list
Laing distal myopathy https://ghr.nlm.nih.gov/condition/laing-distal-myopathy Although Laing distal myopathy is thought to be rare, its prevalence is html:p Laing distal myopathy is a condition that affects skeletal muscles, which are ad autosomal dominant MYH7 https://ghr.nlm.nih.gov/gene/MYH7 distal myopathy 1 db key 2016-12 2017-12-29
(Muscle) unknown. Several families with the condition have been identified worldwide. muscles that the body uses for movement. This disorder causes progressive Laing early-onset distal myopathy GTR CN074249
muscle weakness that appears in childhood. The first sign of Laing distal MPD1 db key
myopathy is usually weakness in certain muscles in the feet and ankles. This GeneReviews mpd1
weakness leads to tightening of the Achilles tendon (the band that connects the db key
heel of the foot to the calf muscles), an inability to lift the first (big) toe, MeSH D049310
and a high-stepping walk. Months to years later, muscle weakness develops in db key
the hands and wrists. Weakness in these muscles makes it difficult to lift the OMIM 160500
fingers, particularly the third and fourth fingers. Many affected people also db key
experience hand tremors. Orphanet 59135
html:p In addition to muscle weakness in the hands and feet, Laing distal myopathy db key
causes weakness in several muscles of the neck and face. A decade or more after SNOMED CT 193230001
the onset of symptoms, mild weakness also spreads to muscles in the legs, hips,
and shoulders. Laing distal myopathy progresses very gradually, and most
affected people remain mobile throughout life. Life expectancy is normal in
people with this condition.
inheritance-pattern-list
LAMA2-related muscular dystrophy https://ghr.nlm.nih.gov/condition/lama2-related-muscular-dystrophy The prevalence of early-onset LAMA2-related muscular dystrophy is estimated html:p LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally app ar related-gene ghr-page synonym LAMA2 MD db-key db key 2013-09 2017-12-29
(Muscle) at 1 in 30,000 individuals. This condition accounts for between 30 and 40 ears in one of two ways: as a severe, early-onset type https://ghr.nlm.nih.gov/gene/LAMA2 synonym laminin alpha 2 deficiency GTR C1263858
percent of total cases of congenital muscular dystrophy, although its or a milder, late-onset form. synonym laminin alpha-2 deficient muscular dystrophy db-key db key
contribution may be higher or lower than this range in specific populations. synonym MDC1A GTR C1842898
Late-onset LAMA2-related muscular dystrophy is rare; its prevalence is unknown. html:p Early-onset LAMA2-related muscular dystrophy is apparent at birth synonym merosin-deficient muscular dystrophy db-key db key
or within the first few months of life. It is considered part synonym muscular dystrophy due to LAMA2 deficiency GeneReviews mdef-cmd
of a class of muscle disorders called congenital muscular dystrophies db-key db key
and is sometimes called congenital muscular dystrophy type 1A. MeSH D009136
Affected infants have severe muscle weakness, lack of muscle tone (hypotonia), db-key db key
little spontaneous movement, and joint deformities (contractures). Weakness of OMIM 607855
the muscles in the face and throat can result in feeding difficulties and an inability to db-key db key
grow and gain weight at the expected rate (failure to thrive). Hypotonia also affects the muscles Orphanet 258
used for breathing, which causes a weak cry and breathing problems that can lead to frequent, db-key db key
potentially life-threatening lung infections. SNOMED CT 111503008
html:p As affected children grow, they often develop an abnormal, gradually worsening side-to-side
curvature of the spine (scoliosis) and inward curvature of the back (lordosis). Children with
early-onset LAMA2-related muscular dystrophy usually do not learn to walk unassisted.
Speech problems may result from weakness of the facial muscles and tongue, but
intelligence is usually normal. Heart problems and seizures occasionally occur in
early-onset LAMA2-related muscular dystrophy. Because of the serious health problems
that occur in this form of the disorder, many affected individuals do not survive past adolescence.
Late-onset LAMA2-related muscular dystrophy occurs later in childhood or in adulthood.
html:p Signs and symptoms of this form of the disorder are milder than in the early-onset type
and are similar to those of a group of muscle disorders classified as limb-girdle muscular
dystrophies. In late-onset LAMA2-related muscular dystrophy, the muscles most affected
are those closest to the body (proximal muscles), specifically the muscles of the shoulders,
upper arms, pelvic area, and thighs. Children with late-onset LAMA2-related muscular
dystrophy sometimes have delayed development of motor skills such as walking, but generally
achieve the ability to walk without assistance. Over time, they may develop rigidity of the back,
joint contractures, scoliosis, and breathing problems. However, most affected individuals retain
the ability to walk and climb stairs, and life expectancy and intelligence are usually not affected
in late-onset LAMA2-related muscular dystrophy.
related-gene-list
Lamellar ichthyosis https://ghr.nlm.nih.gov/condition/lamellar-ichthyosis Lamellar ichthyosis is estimated to affect 1 in 100,000 individuals in the html:p Lamellar ichthyosis is a condition that mainly affects the skin. Infants with ar autosomal recessive ABCA12 https://ghr.nlm.nih.gov/gene/ABCA12 collodion baby db key 2015-03 2017-12-29
膠膜兒 United States. This condition is more common in Norway, where an estimated 1 in this condition are typically born with a tight, clear sheath covering their skin related-gene gene-symbol ghr-page collodion baby syndrome GTR C0020758
ichthyoses, lamellar 91,000 individuals are affected. called a collodion membrane. This membrane usually dries and peels off during CYP4F22 https://ghr.nlm.nih.gov/gene/CYP4F22 ichthyoses, lamellar db key
層狀魚鱗癬（自體隱性遺傳型） the first few weeks of life, and then it becomes obvious that affected babies related-gene gene-symbol ghr-page ichthyosis, lamellar GTR C1832550
have scaly skin, and eyelids and lips that are turned outward. People with LIPN https://ghr.nlm.nih.gov/gene/LIPN LI db key
lamellar ichthyosis typically have large, dark, plate-like scales covering their related-gene gene-symbol ghr-page GTR C1847849
skin on most of their body. Infants with lamellar ichthyosis may develop NIPAL4 https://ghr.nlm.nih.gov/gene/NIPAL4 db key
infections, an excessive loss of fluids (dehydration), and respiratory problems. related-gene gene-symbol ghr-page GTR C1858142
Affected individuals may also have hair loss (alopecia), abnormally formed TGM1 https://ghr.nlm.nih.gov/gene/TGM1 db key
fingernails and toenails (nail dystrophy), a decreased ability to sweat GTR C3151377
(hypohidrosis), an increased sensitivity to heat, and a thickening of the skin db key
on the palms of the hands and soles of the feet (keratoderma). Less frequently, GeneReviews li-ar
affected individuals have reddened skin (erythema) and joint deformities db key
(contractures). ICD-10-CM Q80.2
db key
MeSH D017490
db key
OMIM 242300
db key
OMIM 601277
db key
OMIM 604777
db key
OMIM 606545
db key
Orphanet 313
db key
SNOMED CT 205550003
db key
SNOMED CT 254163001
db key
related-gene-list SNOMED CT 403777006
Langer mesomelic dysplasia https://ghr.nlm.nih.gov/condition/langer-mesomelic-dysplasia The prevalence of Langer mesomelic dysplasia is unknown, although the html:p Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals ar autosomal recessive SHOX https://ghr.nlm.nih.gov/gene/SHOX dyschondrosteosis homozygous db key 2012-01 2017-12-29
condition appears to be rare. Several dozen affected individuals have been typically have extreme shortening of the long bones in the arms and legs code memo Langer mesomelic dwarfism GTR C0432230
reported in the scientific literature. (mesomelia). As a result of the shortened leg bones, people with Langer xr X-linked recessive LMD db key
mesomelic dysplasia have very short stature. A bone in the forearm called the mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type MeSH D009139
ulna and a bone in the lower leg called the fibula are often underdeveloped or db key
absent, while other bones in the forearm (the radius) and lower leg (the tibia) OMIM 249700
are unusually short, thick, and curved. Some people with Langer mesomelic db key
dysplasia also have an abnormality of the wrist and forearm bones called Orphanet 2632
Madelung deformity, which may cause pain and limit wrist movement. Additionally, db key
some affected individuals have mild underdevelopment of the lower jaw bone SNOMED CT 38494008
(mandible).
related-gene-list
Langerhans cell histiocytosis https://ghr.nlm.nih.gov/condition/langerhans-cell-histiocytosis Langerhans cell histiocytosis is a rare disorder. Its prevalence is html:p Langerhans cell histiocytosis is a disorder in which excess immune system cells u pattern unknown BRAF https://ghr.nlm.nih.gov/gene/BRAF Hashimoto-Pritzger disease db key 2017-10 2017-12-29
朗格汉斯组织细胞增多症 estimated at 1 to 2 in 100,000 people. called Langerhans cells build up in the body. Langerhans cells, which help related-gene gene-symbol ghr-page histiocytosis X GTR C0019621
regulate the immune system, are normally found throughout the body, especially MAP2K1 https://ghr.nlm.nih.gov/gene/MAP2K1 Langerhans cell granulomatosis db key
in the skin, lymph nodes, spleen, lungs, liver, and bone marrow. In Langerhans related-gene gene-symbol ghr-page LCH ICD-10-CM C96.0
cell histiocytosis, excess immature Langerhans cells usually form tumors called MAP3K1 https://ghr.nlm.nih.gov/gene/MAP3K1 db key
granulomas. Many researchers now consider Langerhans cell histiocytosis to be a ICD-10-CM C96.5
form of cancer, but this classification remains controversial. db key
html:p In approximately 80 percent of affected individuals, one or more granulomas ICD-10-CM C96.6
develop in the bones, causing pain and swelling. The granulomas, which usually db key
occur in the skull or the long bones of the arms or legs, may cause the bone to ICD-10-CM J84.82
fracture. db key
html:p Granulomas also frequently occur in the skin, appearing as blisters, reddish MeSH D006646
bumps, or rashes which can be mild to severe. The pituitary gland may also be db key
affected; this gland is located at the base of the brain and produces hormones OMIM 604856
that control many important body functions. Without hormone supplementation, db key
affected individuals may experience delayed or absent puberty or an inability to Orphanet 389
have children (infertility). In addition, pituitary gland damage may result in db key
the production of excessive amounts of urine (diabetes insipidus) and SNOMED CT 65399007
dysfunction of another gland called the thyroid. Thyroid dysfunction can affect
the rate of chemical reactions in the body (metabolism), body temperature, skin
and hair texture, and behavior.
html:p In 15 to 20 percent of cases, Langerhans cell histiocytosis affects the lungs,
liver, or blood-forming (hematopoietic) system; damage to these organs and
tissues may be life-threatening. Lung involvement, which appears as swelling of
the small airways (bronchioles) and blood vessels of the lungs, results in
stiffening of the lung tissue, breathing problems, and increased risk of
infection. Hematopoietic involvement, which occurs when the Langerhans cells
crowd out blood-forming cells in the bone marrow, leads to a general reduction
in the number of blood cells (pancytopenia). Pancytopenia results in fatigue due
to low numbers of red blood cells (anemia), frequent infections due to low
numbers of white blood cells (neutropenia), and clotting problems due to low
numbers of platelets (thrombocytopenia).
html:p Other signs and symptoms that may occur in Langerhans cell histiocytosis,
depending on which organs and tissues have Langerhans cell deposits, include
swollen lymph nodes, abdominal pain, yellowing of the skin and whites of the
eyes (jaundice), delayed puberty, protruding eyes, dizziness, irritability, and
seizures. About 1 in 50 affected individuals experience deterioration of
neurological function (neurodegeneration).
html:p Langerhans cell histiocytosis is often diagnosed in childhood, usually between
ages 2 and 3, but can appear at any age. Most individuals with adult-onset
Langerhans cell histiocytosis are current or past smokers; in about two-thirds
of adult-onset cases the disorder affects only the lungs.
html:p The severity of Langerhans cell histiocytosis, and its signs and symptoms, vary
widely among affected individuals. Certain presentations or forms of the
disorder were formerly considered to be separate diseases. Older names that were
sometimes used for forms of Langerhans cell histiocytosis include eosinophilic
granuloma, Hand-Schüller-Christian disease, and Letterer-Siwe disease.
html:p In many people with Langerhans cell histiocytosis, the disorder eventually goes
away with appropriate treatment. It may even disappear on its own, especially if
the disease occurs only in the skin. However, some complications of the
condition, such as diabetes insipidus or other effects of tissue and organ
damage, may be permanent.
related-gene-list
Laron syndrome https://ghr.nlm.nih.gov/condition/laron-syndrome Laron syndrome is a rare disorder. About 350 people have been diagnosed html:p Laron syndrome is a rare form of short stature that results from the body's ad autosomal dominant GHR https://ghr.nlm.nih.gov/gene/GHR GH-R deficiency db key 2015-04 2017-12-29
Laron氏症候群 with the condition worldwide. The largest single group of affected individuals inability to use growth hormone, a substance produced by the brain's pituitary code memo growth hormone insensitivity syndrome GTR C0271568
Laron dwarfism (about 100 people) lives in an area of southern Ecuador. gland that helps promote growth. Affected individuals are close to normal size ar autosomal recessive growth hormone receptor defect db key
Laron氏侏儒症候群 at birth, but they experience slow growth from early childhood that results in growth hormone receptor deficiency ICD-10-CM E34.3
very short stature. If the condition is not treated, adult males typically reach Laron dwarfism db key
a maximum height of about 4.5 feet; adult females may be just over 4 feet tall. Laron-type dwarfism MeSH D046150
html:p Other features of untreated Laron syndrome include reduced muscle strength and Laron-type isolated somatotropin defect db key
endurance, low blood sugar levels (hypoglycemia) in infancy, small genitals and Laron-type pituitary dwarfism OMIM 262500
delayed puberty, hair that is thin and fragile, and dental abnormalities. Many Laron-type short stature db key
affected individuals have a distinctive facial appearance, including a pituitary dwarfism II Orphanet 633
protruding forehead, a sunken bridge of the nose (saddle nose), and a blue tint primary GH resistance db key
to the whites of the eyes (blue sclerae). Affected individuals have short limbs primary growth hormone resistance SNOMED CT 38196001
compared to the size of their torso, as well as small hands and feet. Adults severe GH insensitivity
with this condition tend to develop obesity. However, the signs and symptoms of
Laron syndrome vary, even among affected members of the same family.
html:p Studies suggest that people with Laron syndrome have a significantly reduced
risk of cancer and type 2 diabetes. Affected individuals appear to develop these
common diseases much less frequently than their unaffected relatives, despite
having obesity (a risk factor for both cancer and type 2 diabetes). However,
people with Laron syndrome do not seem to have an increased lifespan compared
with their unaffected relatives.
related-gene-list
Larsen syndrome https://ghr.nlm.nih.gov/condition/larsen-syndrome Larsen syndrome occurs in approximately 1 in 100,000 newborns. html:p Larsen syndrome is a disorder that affects the development of bones throughout ad autosomal dominant FLNB https://ghr.nlm.nih.gov/gene/FLNB LRS db key 2011-09 2017-12-29
Larsen氏症候群 (顎裂-先天性脫位症候群) the body. The signs and symptoms of Larsen syndrome vary widely even within the GTR C0175778
same family. Affected individuals are usually born with inward- and db key
upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. GTR C1835564
They generally have small extra bones in their wrists and ankles that are db key
visible on x-ray images. The tips of their fingers, especially the thumbs, are GeneReviews flnb-dis
typically blunt and square-shaped (spatulate). db key
html:p People with Larsen syndrome may also have an unusually large range of joint MeSH D010009
movement (hypermobility) and short stature. They can also have abnormal db key
curvature of the spine (kyphosis or scoliosis) that may compress the spinal cord OMIM 150250
and lead to weakness of the limbs. db key
html:p Characteristic facial features include a prominent forehead (frontal bossing), OMIM 245600
flattening of the bridge of the nose and of the middle of the face (midface db key
hypoplasia), and wide-set eyes (ocular hypertelorism). Some people with Larsen Orphanet 503
syndrome have an opening in the roof of the mouth (a cleft palate) or hearing db key
loss caused by malformations in the tiny bones in the ears (ossicles). Some SNOMED CT 63387002
affected individuals experience respiratory problems as a result of weakness of
the airways that can lead to partial closing, short pauses in breathing (apnea),
and frequent respiratory infections. People with Larsen syndrome can survive
into adulthood and intelligence is unaffected.
related-gene-list
Laryngo-onycho-cutaneous syndrome https://ghr.nlm.nih.gov/condition/laryngo-onycho-cutaneous-syndrome LOC syndrome is a rare disorder that primarily affects families of Punjabi html:p Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to ar autosomal recessive LAMA3 https://ghr.nlm.nih.gov/gene/LAMA3 JEB-LOC db key 2014-09 2017-12-29
background from India and Pakistan, although the condition has also been abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and laryngoonychocutaneous syndrome GTR C1328355
reported in one family from Iran. skin (cutaneous). Many of the condition's signs and symptoms are related to the LOC syndrome db key
abnormal growth of granulation tissue in different parts of the body. This red, LOCS MeSH D016109
bumpy tissue is normally produced during wound healing and is usually replaced LOGIC syndrome db key
by skin cells as healing continues. However, in people with LOC syndrome, this Shabbir syndrome OMIM 245660
tissue grows even when there is no major injury. db key
html:p One of the first symptoms in infants with LOC syndrome is a hoarse cry due to Orphanet 2407
ulcers or overgrowth of granulation tissue in the voicebox (the larynx). Excess db key
granulation tissue can also block the airways, leading to life-threatening SNOMED CT 722675000
breathing problems; as a result many affected individuals do not survive past
childhood.
html:p In LOC syndrome, granulation tissue also grows in the eyes, specifically the
conjunctiva, which are the moist tissues that line the eyelids and the white
part of the eyes. Affected individuals often have impairment or complete loss of
vision due to the tissue overgrowth.
html:p Another common feature of LOC syndrome is missing patches of skin (cutaneous
erosions). The erosions heal slowly and may become infected. People with LOC
syndrome can also have malformed nails and small, abnormal teeth. The hard,
white material that forms the protective outer layer of each tooth (enamel) is
thin, which contributes to frequent cavities.
html:p LOC syndrome is typically considered a subtype of another skin condition called
junctional epidermolysis bullosa, which is characterized by fragile skin that
blisters easily. While individuals with junctional epidermolysis bullosa can
have some of the features of LOC syndrome, they do not usually have overgrowth
of granulation tissue in the conjunctiva.
related-gene-list
Lateral meningocele syndrome https://ghr.nlm.nih.gov/condition/lateral-meningocele-syndrome Lateral meningocele syndrome is a very rare disorder. Only a small number html:p Lateral meningocele syndrome is a disorder that affects the nervous system, the ad autosomal dominant NOTCH3 https://ghr.nlm.nih.gov/gene/NOTCH3 Lehman syndrome db key 2016-08 2017-12-29
of cases have been described in the medical literature. bones and muscles, and other body systems. The condition is characterized by LMS GTR C1851710
abnormalities known as lateral meningoceles. Lateral meningoceles are db key
protrusions of the membranes surrounding the spinal cord (known as the meninges) GeneReviews lms
through gaps in the bones of the spine (vertebrae). The protrusions are most db key
common and typically larger in the lower spine. MeSH D000015
html:p The meningoceles associated with this disorder may damage the nerves that spread db key
from the spine to the rest of the body. Damage to the nerves that control MeSH D008588
bladder function, a condition called neurogenic bladder, causes affected db key
individuals to have progressive difficulty controlling the flow of urine. OMIM 130720
Prickling or tingling sensations (paresthesias), progressive stiffness and db key
weakness in the legs (paraparesis), and back pain can also occur. Delayed Orphanet 2789
development of motor skills in infancy, such as sitting and crawling, often db key
occurs in this disorder; intelligence is usually unaffected. SNOMED CT 253166000
html:p Other features of lateral meningocele syndrome can include low muscle tone
(hypotonia) during infancy, decreased muscle bulk, loose (hyperextensible)
joints that can lead to dislocations, and protrusion of organs through gaps in
muscles (hernias). Spinal abnormalities are also common, including side-to-side
curvature of the spine (scoliosis), abnormal joining (fusion) of two or more
vertebrae, and vertebrae that are unusually shaped (scalloped).
html:p People with lateral meningocele syndrome typically have a particular pattern of
facial features that may include high arched eyebrows, widely spaced eyes
(hypertelorism), outside corners of the eyes that point downward (downslanting
palpebral fissures), and droopy eyelids (ptosis). Affected individuals may have
a flat appearance of the middle of the face and cheekbones (midface and malar
hypoplasia); low-set ears; a long area between the nose and mouth (long
philtrum); a thin upper lip; a high, narrow roof of the mouth, occasionally with
an abnormal opening (a cleft palate); a small jaw (micrognathia); coarse hair;
and a low hairline at the back of the neck.
html:p Other signs and symptoms that can occur in lateral meningocele syndrome include
a high and nasal voice, hearing loss, abnormalities of the heart or the
genitourinary system, poor feeding, difficulty swallowing (dysphagia), and
backflow of stomach acids into the esophagus (called gastroesophageal reflux or
GERD).
related-gene-list
Lattice corneal dystrophy type I https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-i Lattice corneal dystrophy type I is one of the most common disorders in a html:p Lattice corneal dystrophy type I is an eye disorder that affects the clear, ad autosomal dominant TGFBI https://ghr.nlm.nih.gov/gene/TGFBI Biber-Haab-Dimmer dystrophy db key 2012-04 2017-12-29
(Eyes) group of conditions that are characterized by protein deposits in the cornea outer covering of the eye called the cornea. The cornea must remain clear for an GTR C1690006
(corneal dystrophies); however, it is still a rare condition. The prevalence of individual to see properly; however, in lattice corneal dystrophy type I, db key
lattice corneal dystrophy type I is unknown. protein clumps known as amyloid deposits cloud the cornea, which leads to vision ICD-10-CM H18.54
impairment. The cornea is made up of several layers of tissue, and in lattice db key
corneal dystrophy type I, the deposits form in the stromal layer. The amyloid MeSH D003317
deposits form as delicate, branching fibers that create a lattice pattern. db key
html:p Affected individuals often have recurrent corneal erosions, which are caused by OMIM 122200
separation of particular layers of the cornea from one another. Corneal erosions db key
are very painful and can cause sensitivity to bright light (photophobia). SNOMED CT 419197009
Lattice corneal dystrophy type I is usually bilateral, which means it affects
both eyes. The condition becomes apparent in childhood or adolescence and leads
to vision problems by early adulthood.
related-gene-list
Lattice corneal dystrophy type II https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-ii Lattice corneal dystrophy type II is a rare condition; however, the html:p Lattice corneal dystrophy type II is characterized by an accumulation of protein ad autosomal dominant GSN https://ghr.nlm.nih.gov/gene/GSN amyloid cranial neuropathy with lattice corneal dystrophy db key 2012-04 2017-12-29
(Eyes) prevalence is unknown. While this condition can be found in populations clumps called amyloid deposits in tissues throughout the body. The deposits amyloidosis due to mutant gelsolin GTR C1622345
worldwide, it was first described in Finland and is more common there. frequently occur in blood vessel walls and basement membranes, which are thin, amyloidosis V db key
sheet-like structures that separate and support cells in many tissues. Amyloid amyloidosis, Finnish type ICD-10-CM H18.54
deposits lead to characteristic signs and symptoms involving the eyes, nerves, amyloidosis, Meretoja type db key
and skin that worsen with age. familial amyloid polyneuropathy type IV MeSH D028226
html:p The earliest sign of this condition, which is usually identified in a person's familial amyloidosis, Finnish type db key
twenties, is accumulation of amyloid deposits in the cornea (lattice corneal gelsolin-related amyloidosis OMIM 105120
dystrophy). The cornea is the clear, outer covering of the eye. It is made up of Kymenlaakso syndrome db key
several layers of tissue, and in lattice corneal dystrophy type II, the amyloid lattice corneal dystrophy, gelsolin type SNOMED CT 419087002
deposits form in the stromal layer. The amyloid deposits form as delicate, Meretoja syndrome db key
branching fibers that create a lattice pattern. Because these protein deposits SNOMED CT 419398009
cloud the cornea, they often lead to vision impairment. In addition, affected
individuals can have recurrent corneal erosions, which are caused by separation
of particular layers of the cornea from one another. Corneal erosions are very
painful and can cause sensitivity to bright light (photophobia). Amyloid
deposits and corneal erosions are usually bilateral, which means they affect
both eyes.
html:p As lattice corneal dystrophy type II progresses, the nerves become involved,
typically starting in a person's forties. It is thought that the amyloid
deposits disrupt nerve function. Dysfunction of the nerves in the head and face
(cranial nerves) can cause paralysis of facial muscles (facial palsy); decreased
sensations in the face (facial hypoesthesia); and difficulty speaking, chewing,
and swallowing. Dysfunction of the nerves that connect the brain and spinal
cord to muscles and to sensory cells that detect sensations such as touch, pain,
and heat (peripheral nerves) can cause loss of sensation and weakness in the
limbs (peripheral neuropathy). Peripheral neuropathy usually occurs in the lower
legs and arms, leading to muscle weakness, clumsiness, and difficulty sensing
vibrations.
html:p The skin is also commonly affected in people with lattice corneal dystrophy type
II, typically beginning in a person's forties. People with this condition may
have thickened, sagging skin, especially on the scalp and forehead, and a
condition called cutis laxa, which is characterized by loose skin that lacks
elasticity. The skin can also be dry and itchy. Because of loose skin and muscle
paralysis in the face, individuals with lattice corneal dystrophy type II can
have a facial expression that appears sad.
related-gene-list
Leber congenital amaurosis, LCA https://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis Leber congenital amaurosis occurs in 2 to 3 per 100,000 newborns. It is one html:p Leber congenital amaurosis is an eye disorder that primarily affects the retina, ad autosomal dominant AIPL1 https://ghr.nlm.nih.gov/gene/AIPL1 amaurosis, Leber congenital db key 2010-08 2017-12-29
萊伯氏先天性黑矇 of the most common causes of blindness in children. which is the specialized tissue at the back of the eye that detects light and code memo related-gene gene-symbol ghr-page congenital amaurosis of retinal origin GTR C0339527
color. People with this disorder typically have severe visual impairment ar autosomal recessive CEP290 https://ghr.nlm.nih.gov/gene/CEP290 congenital retinal blindness db key
beginning in infancy. The visual impairment tends to be stable, although it may related-gene gene-symbol ghr-page CRB GTR C1837873
worsen very slowly over time. CRB1 https://ghr.nlm.nih.gov/gene/CRB1 dysgenesis neuroepithelialis retinae db key
html:p Leber congenital amaurosis is also associated with other vision problems, related-gene gene-symbol ghr-page hereditary epithelial dysplasia of retina GTR C1840284
including an increased sensitivity to light (photophobia), involuntary movements CRX https://ghr.nlm.nih.gov/gene/CRX hereditary retinal aplasia db key
of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, related-gene gene-symbol ghr-page heredoretinopathia congenitalis GTR C1854260
which usually expand and contract in response to the amount of light entering GUCY2D https://ghr.nlm.nih.gov/gene/GUCY2D LCA db key
the eye, do not react normally to light. Instead, they expand and contract more related-gene gene-symbol ghr-page Leber abiotrophy GTR C1857743
slowly than normal, or they may not respond to light at all. Additionally, the IMPDH1 https://ghr.nlm.nih.gov/gene/IMPDH1 Leber congenital tapetoretinal degeneration db key
clear front covering of the eye (the cornea) may be cone-shaped and abnormally related-gene gene-symbol ghr-page Leber's amaurosis GTR C1857821
thin, a condition known as keratoconus. IQCB1 https://ghr.nlm.nih.gov/gene/IQCB1 db key
html:p A specific behavior called Franceschetti's oculo-digital sign is characteristic related-gene gene-symbol ghr-page GTR C1858301
of Leber congenital amaurosis. This sign consists of poking, pressing, and LCA5 https://ghr.nlm.nih.gov/gene/LCA5 db key
rubbing the eyes with a knuckle or finger. Researchers suspect that this related-gene gene-symbol ghr-page GTR C1858386
behavior may contribute to deep-set eyes and keratoconus in affected children. LRAT https://ghr.nlm.nih.gov/gene/LRAT db key
html:p In rare cases, delayed development and intellectual disability have been related-gene gene-symbol ghr-page GTR C1858677
reported in people with the features of Leber congenital amaurosis. However, NMNAT1 https://ghr.nlm.nih.gov/gene/NMNAT1 db key
researchers are uncertain whether these individuals actually have Leber related-gene gene-symbol ghr-page GTR C1859844
congenital amaurosis or another syndrome with similar signs and symptoms. RD3 https://ghr.nlm.nih.gov/gene/RD3 db key
html:p At least 13 types of Leber congenital amaurosis have been described. The types related-gene gene-symbol ghr-page GTR C2675186
are distinguished by their genetic cause, patterns of vision loss, and related RDH12 https://ghr.nlm.nih.gov/gene/RDH12 db key
eye abnormalities. related-gene gene-symbol ghr-page GTR C2750063
RPE65 https://ghr.nlm.nih.gov/gene/RPE65 db key
related-gene gene-symbol ghr-page GTR C2931258
RPGRIP1 https://ghr.nlm.nih.gov/gene/RPGRIP1 db key
related-gene gene-symbol ghr-page GTR C3151192
SPATA7 https://ghr.nlm.nih.gov/gene/SPATA7 db key
related-gene gene-symbol ghr-page GTR C3151202
TULP1 https://ghr.nlm.nih.gov/gene/TULP1 db key
GTR C3151206
db key
GeneReviews lca
db key
MeSH D057130
db key
OMIM 204000
db key
OMIM 204100
db key
OMIM 604232
db key
OMIM 604393
db key
OMIM 604537
db key
OMIM 608553
db key
OMIM 610612
db key
OMIM 611755
db key
OMIM 612712
db key
OMIM 613341
db key
Orphanet 65
db key
related-gene-list SNOMED CT 193413001
Leber hereditary optic neuropathy, LHON https://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy The prevalence of LHON in most populations is unknown. It affects 1 in html:p Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. m mitochondrial MT-ND1 https://ghr.nlm.nih.gov/gene/MT-ND1 hereditary optic neuroretinopathy db key 2013-12 2017-12-29
Leber氏遺傳性視神經病變 30,000 to 50,000 people in northeast England and Finland. Although this condition usually begins in a person's teens or twenties, rare related-gene gene-symbol ghr-page Leber hereditary optic atrophy GTR C0917796
雷伯氏遺傳性視神經萎縮症 cases may appear in early childhood or later in adulthood. For unknown reasons, MT-ND4 https://ghr.nlm.nih.gov/gene/MT-ND4 Leber optic atrophy db key
males are affected much more often than females. related-gene gene-symbol ghr-page Leber's hereditary optic neuropathy GeneReviews lhon
html:p Blurring and clouding of vision are usually the first symptoms of LHON. These MT-ND4L https://ghr.nlm.nih.gov/gene/MT-ND4L Leber's optic atrophy db key
vision problems may begin in one eye or simultaneously in both eyes; if vision related-gene gene-symbol ghr-page Leber's optic neuropathy GeneReviews mt-overview
loss starts in one eye, the other eye is usually affected within several weeks MT-ND6 https://ghr.nlm.nih.gov/gene/MT-ND6 LHON db key
or months. Over time, vision in both eyes worsens with a severe loss of related-mitochondrial-dna name ghr-page ICD-10-CM H47.22
sharpness (visual acuity) and color vision. This condition mainly affects mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna db key
central vision, which is needed for detailed tasks such as reading, driving, and MeSH D029242
recognizing faces. Vision loss results from the death of cells in the nerve db key
that relays visual information from the eyes to the brain (the optic nerve). OMIM 308905
Although central vision gradually improves in a small percentage of cases, in db key
most cases the vision loss is profound and permanent. OMIM 535000
html:p Vision loss is typically the only symptom of LHON; however, some families with db key
additional signs and symptoms have been reported. In these individuals, the Orphanet 104
condition is described as "LHON plus." In addition to vision loss, the features db key
of LHON plus can include movement disorders, tremors, and abnormalities of the SNOMED CT 58610003
electrical signals that control the heartbeat (cardiac conduction defects). Some
affected individuals develop features similar to multiple sclerosis, which is a
chronic disorder characterized by muscle weakness, poor coordination, numbness,
and a variety of other health problems.
related-gene-list
Left ventricular noncompaction https://ghr.nlm.nih.gov/condition/left-ventricular-noncompaction Left ventricular noncompaction is estimated to affect 8 to 12 per 1 million html:p Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs ad autosomal dominant ACTC1 https://ghr.nlm.nih.gov/gene/ACTC1 fetal myocardium db key 2017-06 2017-12-29
(Heart muscle) individuals per year. However, the condition is likely more common than this when the lower left chamber of the heart (left ventricle), which helps the heart code memo related-gene gene-symbol ghr-page honeycomb myocardium GTR C1832243
estimate because individuals who do not have any related signs or symptoms may pump blood, does not develop correctly. Instead of the muscle being smooth and ar autosomal recessive DTNA https://ghr.nlm.nih.gov/gene/DTNA hypertrabeculation syndrome db key
not come to medical attention. firm, the cardiac muscle in the left ventricle is thick and appears spongy. The code memo related-gene gene-symbol ghr-page isolated noncompaction of the ventricular myocardium GTR C1858725
abnormal cardiac muscle is weak and has an impaired ability to pump blood xr X-linked recessive HCN4 https://ghr.nlm.nih.gov/gene/HCN4 left ventricular hypertrabeculation db key
because it either cannot completely contract or it cannot completely relax. For related-gene gene-symbol ghr-page left ventricular myocardial noncompaction cardiomyopathy GTR C1960469
the heart to pump blood normally, cardiac muscle must contract and relax fully. LDB3 https://ghr.nlm.nih.gov/gene/LDB3 left ventricular non-compaction db key
html:p Some individuals with left ventricular noncompaction experience no symptoms at related-gene gene-symbol ghr-page LVHT GTR C3554496
all; others have heart problems that can include sudden cardiac death. LMNA https://ghr.nlm.nih.gov/gene/LMNA non-compaction of the left ventricular myocardium db key
Additional signs and symptoms include abnormal blood clots, irregular heart related-gene gene-symbol ghr-page noncompaction cardiomyopathy GTR C3715165
rhythm (arrhythmia), a sensation of fluttering or pounding in the chest MIB1 https://ghr.nlm.nih.gov/gene/MIB1 spongy myocardium db key
(palpitations), extreme fatigue during exercise (exercise intolerance), related-gene gene-symbol ghr-page GTR C3809288
shortness of breath (dyspnea), fainting (syncope), swelling of the legs MYBPC3 https://ghr.nlm.nih.gov/gene/MYBPC3 db key
(lymphedema), and trouble laying down flat. Some affected individuals have related-gene gene-symbol ghr-page MeSH D056830
features of other heart defects. Left ventricular noncompaction can be diagnosed MYH7 https://ghr.nlm.nih.gov/gene/MYH7 db key
at any age, from birth to late adulthood. Approximately two-thirds of related-gene gene-symbol ghr-page OMIM 601493
individuals with left ventricular noncompaction develop heart failure. PRDM16 https://ghr.nlm.nih.gov/gene/PRDM16 db key
related-gene gene-symbol ghr-page OMIM 601494
SCN5A https://ghr.nlm.nih.gov/gene/SCN5A db key
related-gene gene-symbol ghr-page OMIM 604169
TAZ https://ghr.nlm.nih.gov/gene/TAZ db key
related-gene gene-symbol ghr-page OMIM 609470
TNNT2 https://ghr.nlm.nih.gov/gene/TNNT2 db key
related-gene gene-symbol ghr-page OMIM 611878
TPM1 https://ghr.nlm.nih.gov/gene/TPM1 db key
OMIM 613424
db key
OMIM 613426
db key
OMIM 615092
db key
OMIM 615373
db key
OMIM 615396
db key
Orphanet 54260
db key
related-gene-list SNOMED CT 447935001
Legg-Calvé-Perthes disease https://ghr.nlm.nih.gov/condition/legg-calve-perthes-disease The incidence of Legg-Calvé-Perthes disease varies by population. The html:p Legg-Calvé-Perthes disease is a bone disorder that affects the hips. Usually, ad autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 Calve-Perthes disease db key 2014-09 2017-12-29
小兒股骨頭缺血性壞死 condition is most common in white populations, in which it affects an estimated only one hip is involved, but in about 10 percent of cases, both hips are coxa plana GTR C0023234
(Hip bones) 1 to 3 in 20,000 children under age 15. affected. Legg-Calvé-Perthes disease begins in childhood, typically between ages LCPD db key
4 and 8, and affects boys more frequently than girls. Perthes disease ICD-10-CM M91.1
html:p In this condition, the upper end of the thigh bone, known as the femoral head, db key
breaks down. As a result, the femoral head is no longer round and does not move ICD-10-CM M91.10
easily in the hip socket, which leads to hip pain, limping, and restricted leg db key
movement. The bone eventually begins to heal itself through a normal process ICD-10-CM M91.11
called bone remodeling, by which old bone is removed and new bone is created to db key
replace it. This cycle of breakdown and healing can recur multiple times. ICD-10-CM M91.12
Affected individuals are often shorter than their peers due to the bone db key
abnormalities. Many people with Legg-Calvé-Perthes disease go on to develop a MeSH D007873
painful joint disorder called osteoarthritis in the hips at an early age. db key
OMIM 150600
db key
Orphanet 2380
db key
related-gene-list SNOMED CT 111255008
Legius syndrome https://ghr.nlm.nih.gov/condition/legius-syndrome The prevalence of Legius syndrome is unknown. Many individuals with this html:p Legius syndrome is a condition characterized by changes in skin coloring ad autosomal dominant SPRED1 https://ghr.nlm.nih.gov/gene/SPRED1 neurofibromatosis type 1-like syndrome db key 2011-02 2017-12-29
Legius綜合症 disorder are likely misdiagnosed because the signs and symptoms of Legius (pigmentation). Almost all affected individuals have multiple café-au-lait NFLS GTR C1969623
syndrome are similar to those of neurofibromatosis type 1. spots, which are flat patches on the skin that are darker than the surrounding db key
area. Another pigmentation change, freckles in the armpits and groin, may occur GeneReviews legius
in some affected individuals. db key
html:p Other signs and symptoms of Legius syndrome may include an abnormally large head MeSH D019080
(macrocephaly) and unusual facial characteristics. Although most people with db key
Legius syndrome have normal intelligence, some affected individuals have been OMIM 611431
diagnosed with learning disabilities, attention deficit disorder (ADD), or db key
attention deficit hyperactivity disorder (ADHD). SNOMED CT 703541007
html:p Many of the signs and symptoms of Legius syndrome also occur in a similar
disorder called neurofibromatosis type 1. It can be difficult to tell the two
disorders apart in early childhood. However, the features of the two disorders
differ later in life.
related-gene-list
Leigh syndrome, LS https://ghr.nlm.nih.gov/condition/leigh-syndrome Leigh syndrome affects at least 1 in 40,000 newborns. The condition is more html:p Leigh syndrome is a severe neurological disorder that usually becomes apparent ar autosomal recessive AIFM1 https://ghr.nlm.nih.gov/gene/AIFM1 infantile subacute necrotizing encephalopathy db key 2016-06 2017-12-29
Leigh症候群 common in certain populations. For example, the condition occurs in in the first year of life. This condition is characterized by progressive loss code memo related-gene gene-symbol ghr-page juvenile subacute necrotizing encephalopathy GTR C0023264
Leigh 綜合症 approximately 1 in 2,000 newborns in the Saguenay Lac-Saint-Jean region of of mental and movement abilities (psychomotor regression) and typically results m mitochondrial BCS1L https://ghr.nlm.nih.gov/gene/BCS1L Leigh disease db key
Quebec, Canada and in approximately 1 in 1,700 individuals on the Faroe Islands. in death within two to three years, usually due to respiratory failure. A small code memo related-gene gene-symbol ghr-page Leigh's disease GTR C1857355
number of individuals do not develop symptoms until adulthood or have symptoms xr X-linked recessive BTD https://ghr.nlm.nih.gov/gene/BTD subacute necrotizing encephalomyelopathy db key
that worsen more slowly. related-gene gene-symbol ghr-page GTR CN043625
html:p The first signs of Leigh syndrome seen in infancy are usually vomiting, C12orf65 https://ghr.nlm.nih.gov/gene/C12orf65 db key
diarrhea, and difficulty swallowing (dysphagia), which disrupts eating. These related-gene gene-symbol ghr-page GTR CN230159
problems often result in an inability to grow and gain weight at the expected COX10 https://ghr.nlm.nih.gov/gene/COX10 db key
rate (failure to thrive). Severe muscle and movement problems are common in related-gene gene-symbol ghr-page GeneReviews leigh-nucl-ov
Leigh syndrome. Affected individuals may develop weak muscle tone (hypotonia), COX15 https://ghr.nlm.nih.gov/gene/COX15 db key
involuntary muscle contractions (dystonia), and problems with movement and related-gene gene-symbol ghr-page GeneReviews narp
balance (ataxia). Loss of sensation and weakness in the limbs (peripheral DLAT https://ghr.nlm.nih.gov/gene/DLAT db key
neuropathy), common in people with Leigh syndrome, may also make movement related-gene gene-symbol ghr-page ICD-10-CM G31.82
difficult. DLD https://ghr.nlm.nih.gov/gene/DLD db key
html:p Several other features may occur in people with Leigh syndrome. Many individuals related-gene gene-symbol ghr-page MeSH D007888
with this condition develop weakness or paralysis of the muscles that move the EARS2 https://ghr.nlm.nih.gov/gene/EARS2 db key
eyes (ophthalmoparesis); rapid, involuntary eye movements (nystagmus); or related-gene gene-symbol ghr-page OMIM 161700
degeneration of the nerves that carry information from the eyes to the brain ECHS1 https://ghr.nlm.nih.gov/gene/ECHS1 db key
(optic atrophy). Severe breathing problems are common, and these problems can related-gene gene-symbol ghr-page OMIM 220111
worsen until they cause acute respiratory failure. Some affected individuals ETHE1 https://ghr.nlm.nih.gov/gene/ETHE1 db key
develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle related-gene gene-symbol ghr-page OMIM 256000
that forces the heart to work harder to pump blood. In addition, a substance FARS2 https://ghr.nlm.nih.gov/gene/FARS2 db key
called lactate can build up in the body, and excessive amounts are often found related-gene gene-symbol ghr-page Orphanet 506
in the blood, urine, or the fluid that surrounds and protects the brain and FBXL4 https://ghr.nlm.nih.gov/gene/FBXL4 db key
spinal cord (cerebrospinal fluid) of people with Leigh syndrome. related-gene gene-symbol ghr-page Orphanet 255210
html:p The signs and symptoms of Leigh syndrome are caused in part by patches of FOXRED1 https://ghr.nlm.nih.gov/gene/FOXRED1 db key
damaged tissue (lesions) that develop in the brains of people with this related-gene gene-symbol ghr-page SNOMED CT 29570005
condition. A medical procedure called magnetic resonance imaging (MRI) reveals GFM1 https://ghr.nlm.nih.gov/gene/GFM1
characteristic lesions in certain regions of the brain. These regions include related-gene gene-symbol ghr-page
the basal ganglia, which help control movement; the cerebellum, which controls GFM2 https://ghr.nlm.nih.gov/gene/GFM2
the ability to balance and coordinates movement; and the brainstem, which related-gene gene-symbol ghr-page
connects the brain to the spinal cord and controls functions such as swallowing GTPBP3 https://ghr.nlm.nih.gov/gene/GTPBP3
and breathing. The brain lesions are often accompanied by loss of the myelin related-gene gene-symbol ghr-page
coating around nerves (demyelination), which reduces the ability of the nerves HIBCH https://ghr.nlm.nih.gov/gene/HIBCH
to activate muscles used for movement or relay sensory information from the rest related-gene gene-symbol ghr-page
of the body back to the brain. IARS2 https://ghr.nlm.nih.gov/gene/IARS2
related-gene gene-symbol ghr-page
LIAS https://ghr.nlm.nih.gov/gene/LIAS
related-gene gene-symbol ghr-page
LIPT1 https://ghr.nlm.nih.gov/gene/LIPT1
related-gene gene-symbol ghr-page
LRPPRC https://ghr.nlm.nih.gov/gene/LRPPRC
related-gene gene-symbol ghr-page
MT-ATP6 https://ghr.nlm.nih.gov/gene/MT-ATP6
related-gene gene-symbol ghr-page
MT-CO3 https://ghr.nlm.nih.gov/gene/MT-CO3
related-gene gene-symbol ghr-page
MT-ND1 https://ghr.nlm.nih.gov/gene/MT-ND1
related-gene gene-symbol ghr-page
MT-ND2 https://ghr.nlm.nih.gov/gene/MT-ND2
related-gene gene-symbol ghr-page
MT-ND3 https://ghr.nlm.nih.gov/gene/MT-ND3
related-gene gene-symbol ghr-page
MT-ND4 https://ghr.nlm.nih.gov/gene/MT-ND4
related-gene gene-symbol ghr-page
MT-ND5 https://ghr.nlm.nih.gov/gene/MT-ND5
related-gene gene-symbol ghr-page
MT-ND6 https://ghr.nlm.nih.gov/gene/MT-ND6
related-gene gene-symbol ghr-page
MT-TI https://ghr.nlm.nih.gov/gene/MT-TI
related-gene gene-symbol ghr-page
MT-TK https://ghr.nlm.nih.gov/gene/MT-TK
related-gene gene-symbol ghr-page
MT-TL1 https://ghr.nlm.nih.gov/gene/MT-TL1
related-gene gene-symbol ghr-page
MT-TV https://ghr.nlm.nih.gov/gene/MT-TV
related-gene gene-symbol ghr-page
MT-TW https://ghr.nlm.nih.gov/gene/MT-TW
related-gene gene-symbol ghr-page
MTFMT https://ghr.nlm.nih.gov/gene/MTFMT
related-gene gene-symbol ghr-page
NARS2 https://ghr.nlm.nih.gov/gene/NARS2
related-gene gene-symbol ghr-page
NDUFA1 https://ghr.nlm.nih.gov/gene/NDUFA1
related-gene gene-symbol ghr-page
NDUFA2 https://ghr.nlm.nih.gov/gene/NDUFA2
related-gene gene-symbol ghr-page
NDUFA4 https://ghr.nlm.nih.gov/gene/NDUFA4
related-gene gene-symbol ghr-page
NDUFA9 https://ghr.nlm.nih.gov/gene/NDUFA9
related-gene gene-symbol ghr-page
NDUFA10 https://ghr.nlm.nih.gov/gene/NDUFA10
related-gene gene-symbol ghr-page
NDUFA11 https://ghr.nlm.nih.gov/gene/NDUFA11
related-gene gene-symbol ghr-page
NDUFA12 https://ghr.nlm.nih.gov/gene/NDUFA12
related-gene gene-symbol ghr-page
NDUFAF2 https://ghr.nlm.nih.gov/gene/NDUFAF2
related-gene gene-symbol ghr-page
NDUFAF5 https://ghr.nlm.nih.gov/gene/NDUFAF5
related-gene gene-symbol ghr-page
NDUFAF6 https://ghr.nlm.nih.gov/gene/NDUFAF6
related-gene gene-symbol ghr-page
NDUFS1 https://ghr.nlm.nih.gov/gene/NDUFS1
related-gene gene-symbol ghr-page
NDUFS2 https://ghr.nlm.nih.gov/gene/NDUFS2
related-gene gene-symbol ghr-page
NDUFS3 https://ghr.nlm.nih.gov/gene/NDUFS3
related-gene gene-symbol ghr-page
NDUFS4 https://ghr.nlm.nih.gov/gene/NDUFS4
related-gene gene-symbol ghr-page
NDUFS7 https://ghr.nlm.nih.gov/gene/NDUFS7
related-gene gene-symbol ghr-page
NDUFS8 https://ghr.nlm.nih.gov/gene/NDUFS8
related-gene gene-symbol ghr-page
NDUFV1 https://ghr.nlm.nih.gov/gene/NDUFV1
related-gene gene-symbol ghr-page
NDUFV2 https://ghr.nlm.nih.gov/gene/NDUFV2
related-gene gene-symbol ghr-page
PDHA1 https://ghr.nlm.nih.gov/gene/PDHA1
related-gene gene-symbol ghr-page
PDHB https://ghr.nlm.nih.gov/gene/PDHB
related-gene gene-symbol ghr-page
PDHX https://ghr.nlm.nih.gov/gene/PDHX
related-gene gene-symbol ghr-page
PDSS2 https://ghr.nlm.nih.gov/gene/PDSS2
related-gene gene-symbol ghr-page
PET100 https://ghr.nlm.nih.gov/gene/PET100
related-gene gene-symbol ghr-page
PNPT1 https://ghr.nlm.nih.gov/gene/PNPT1
related-gene gene-symbol ghr-page
POLG https://ghr.nlm.nih.gov/gene/POLG
related-gene gene-symbol ghr-page
SCO2 https://ghr.nlm.nih.gov/gene/SCO2
related-gene gene-symbol ghr-page
SDHA https://ghr.nlm.nih.gov/gene/SDHA
related-gene gene-symbol ghr-page
SDHAF1 https://ghr.nlm.nih.gov/gene/SDHAF1
related-gene gene-symbol ghr-page
SERAC1 https://ghr.nlm.nih.gov/gene/SERAC1
related-gene gene-symbol ghr-page
SLC19A3 https://ghr.nlm.nih.gov/gene/SLC19A3
related-gene gene-symbol ghr-page
SLC25A19 https://ghr.nlm.nih.gov/gene/SLC25A19
related-gene gene-symbol ghr-page
SUCLA2 https://ghr.nlm.nih.gov/gene/SUCLA2
related-gene gene-symbol ghr-page
SUCLG1 https://ghr.nlm.nih.gov/gene/SUCLG1
related-gene gene-symbol ghr-page
SURF1 https://ghr.nlm.nih.gov/gene/SURF1
related-gene gene-symbol ghr-page
TACO1 https://ghr.nlm.nih.gov/gene/TACO1
related-gene gene-symbol ghr-page
TPK1 https://ghr.nlm.nih.gov/gene/TPK1
related-gene gene-symbol ghr-page
TRMU https://ghr.nlm.nih.gov/gene/TRMU
related-gene gene-symbol ghr-page
TSFM https://ghr.nlm.nih.gov/gene/TSFM
related-gene gene-symbol ghr-page
TTC19 https://ghr.nlm.nih.gov/gene/TTC19
related-gene gene-symbol ghr-page
UQCRQ https://ghr.nlm.nih.gov/gene/UQCRQ
related-mitochondrial-dna name ghr-page
mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna
synonym-list db-key-list
Lennox-Gastaut syndrome https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome Lennox-Gastaut syndrome affects an estimated 1 in 50,000 to 1 in 100,000 html:p Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. u pattern unknown synonym LGS key 2017-12-29
雷葛氏症候群 children. This condition accounts for about 4 percent of all cases of childhood It is characterized by multiple types of seizures and intellectual disability. db-key C1853372
epilepsy. For unknown reasons, it appears to be more common in males than in html:p People with Lennox-Gastaut syndrome begin having frequent seizures in early key
females. childhood, usually between ages 3 and 5. More than three-quarters of affected db-key G40.811
individuals have tonic seizures, which cause the muscles to stiffen (contract) key
uncontrollably. These seizures occur most often during sleep. Also common are db-key G40.812
atypical absence seizures, which cause a partial or complete loss of key
consciousness. Additionally, many affected individuals have drop attacks, which db-key G40.813
are sudden episodes of weak muscle tone. Drop attacks can result in falls that key
cause serious or life-threatening injuries. Other types of seizures have been db-key G40.814
reported less frequently in people with Lennox-Gastaut syndrome. key
html:p Most of the seizures associated with Lennox-Gastaut syndrome are very brief. db-key D065768
However, more than two-thirds of affected individuals experience at least one key
prolonged period of seizure activity known as nonconvulsive status epilepticus. db-key 606369
These episodes can cause confusion and a loss of alertness lasting from hours to key
weeks. db-key 2382
html:p Almost all children with Lennox-Gastaut syndrome develop learning problems and key
intellectual disability associated with their frequent seizures. Because the 230418006
seizures associated with this condition are difficult to control with
medication, the intellectual disability tends to worsen with time. Some affected
children develop additional neurological abnormalities and behavioral problems.
Many also have delayed development of motor skills such as sitting and
crawling. As a result of their seizures and progressive intellectual disability,
most people with Lennox-Gastaut syndrome require help with some or all of the
usual activities of daily living. However, a small percentage of affected adults
live independently.
html:p People with Lennox-Gastaut syndrome have an increased risk of death compared to
their peers of the same age. Although the increased risk is not fully
understood, it is partly due to poorly controlled seizures and injuries from
falls.
related-gene-list
Lenz microphthalmia syndrome https://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome Lenz microphthalmia syndrome is a very rare condition; its incidence is html:p Lenz microphthalmia syndrome is a condition characterized by abnormal xr X-linked recessive BCOR https://ghr.nlm.nih.gov/gene/BCOR Lenz dysmorphogenic syndrome db key 2008-05 2017-12-29
unknown. It has been identified in only a few families worldwide. development of the eyes and several other parts of the body. It occurs almost Lenz dysplasia GTR C0796016
exclusively in males. Lenz syndrome db key
html:p The eye abnormalities associated with Lenz microphthalmia syndrome can affect MAA GeneReviews lenz
one or both eyes. People with this condition are born with eyeballs that are MCOPS1 db key
abnormally small (microphthalmia) or absent (anophthalmia), leading to vision microphthalmia or anophthalmos with associated anomalies MeSH D000853
loss or blindness. Other eye problems can include clouding of the lens microphthalmia, syndromic 1 db key
(cataract), involuntary eye movements (nystagmus), a gap or split in structures MeSH D008850
that make up the eye (coloboma), and a higher risk of an eye disease called db key
glaucoma. MeSH D015785
html:p Abnormalities of the ears, teeth, hands, skeleton, and urinary system are also db key
frequently seen in Lenz microphthalmia syndrome. Less commonly, heart defects OMIM 309800
have been reported in affected individuals. Many people with this condition have db key
delayed development or intellectual disability ranging from mild to severe. Orphanet 568
db key
related-gene-list SNOMED CT 438504004
Leptin receptor deficiency https://ghr.nlm.nih.gov/condition/leptin-receptor-deficiency Leptin receptor deficiency is a rare cause of obesity. Its prevalence is html:p Leptin receptor deficiency is a condition that causes severe obesity beginning ar autosomal recessive LEPR https://ghr.nlm.nih.gov/gene/LEPR congenital deficiency of the leptin receptor db key 2016-07 2017-12-29
(Metabolic) unknown. in the first few months of life. Affected individuals are of normal weight at leptin receptor-related monogenic obesity GTR C3554225
birth, but they are constantly hungry and quickly gain weight. The extreme obesity due to leptin receptor gene deficiency db key
hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning obesity, morbid, due to leptin receptor deficiency MeSH D009767
in early childhood, affected individuals develop abnormal eating behaviors such obesity, morbid, nonsyndromic 2 db key
as fighting with other children over food, hoarding food, and eating in secret. OMIM 614963
html:p People with leptin receptor deficiency also have hypogonadotropic hypogonadism, db key
which is a condition caused by reduced production of hormones that direct sexual Orphanet 179494
development. Affected individuals experience delayed puberty or do not go db key
through puberty, and they may be unable to conceive children (infertile). SNOMED CT 238136002
related-gene-list
Léri-Weill dyschondrosteosis https://ghr.nlm.nih.gov/condition/leri-weill-dyschondrosteosis The prevalence of Léri-Weill dyschondrosteosis is unknown. It is diagnosed html:p Léri-Weill dyschondrosteosis is a disorder of bone growth. Affected individuals ac autosomal codominant SHOX https://ghr.nlm.nih.gov/gene/SHOX DCO db key 2012-01 2017-12-29
Léri-Weill軟骨骨生成障礙綜合症 more often in females than in males. typically have shortening of the long bones in the arms and legs (mesomelia). As code memo dyschondrosteosis GTR C0265309
(Bone) a result of the shortened leg bones, people with Leri-Weill dyschondrosteosis xd X-linked dominant Leri-Weill dyschondrosteosis db key
typically have short stature. Most people with the condition also have an LWD GeneReviews lwd
abnormality of the wrist and forearm bones called Madelung deformity, which may db key
cause pain and limit wrist movement. This abnormality usually appears in MeSH D009139
childhood or early adolescence. Other features of Léri-Weill dyschondrosteosis db key
can include increased muscle mass (muscle hypertrophy); bowing of a bone in the OMIM 127300
lower leg called the tibia; a greater-than-normal angling of the elbow away from db key
the body (increased carrying angle); and a high arched palate. Orphanet 240
html:p Léri-Weill dyschondrosteosis occurs in both males and females, although its db key
signs and symptoms tend to be more severe in females. Researchers believe that SNOMED CT 17818006
the more severe features may result from hormonal differences.
related-gene-list
Lesch-Nyhan syndrome https://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 html:p Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It xr X-linked recessive HPRT1 https://ghr.nlm.nih.gov/gene/HPRT1 choreoathetosis self-mutilation syndrome db key 2013-02 2017-12-29
萊希－尼亨症候群 individuals. This condition occurs with a similar frequency in all populations. is characterized by neurological and behavioral abnormalities and the complete HPRT deficiency GTR C0023374
overproduction of uric acid. Uric acid is a waste product of normal chemical complete hypoxanthine-guanine phosphoribosyltransferase deficiency db key
processes and is found in blood and urine. Excess uric acid can be released from deficiency of guanine phosphoribosyltransferase GeneReviews lns
the blood and build up under the skin and cause gouty arthritis (arthritis deficiency of hypoxanthine phosphoribosyltransferase db key
caused by an accumulation of uric acid in the joints). Uric acid accumulation HGPRT deficiency ICD-10-CM E79.1
can also cause kidney and bladder stones. hypoxanthine guanine phosphoribosyltransferase deficiency db key
html:p The nervous system and behavioral disturbances experienced by people with hypoxanthine phosphoribosyltransferase deficiency MeSH D007926
Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as juvenile gout, choreoathetosis, mental retardation syndrome db key
tensing of various muscles (dystonia), jerking movements (chorea), and flailing juvenile hyperuricemia syndrome OMIM 300322
of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, Lesch-Nyhan disease db key
require assistance sitting, and generally use a wheelchair. Self-injury LND OMIM 300323
(including biting and head banging) is the most common and distinctive LNS db key
behavioral problem in individuals with Lesch-Nyhan syndrome. primary hyperuricemia syndrome Orphanet 510
total HPRT deficiency db key
total hypoxanthine-guanine phosphoribosyl transferase deficiency SNOMED CT 10406007
X-linked hyperuricemia db key
X-linked primary hyperuricemia SNOMED CT 124275001
Lethal congenital contracture syndrome 1
致死先天性攣縮綜合徵
Lethal tight skin contracture syndrome
related-gene-list X-linked uric aciduria enzyme defect
Leukocyte adhesion deficiency type 1 https://ghr.nlm.nih.gov/condition/leukocyte-adhesion-deficiency-type-1 Leukocyte adhesion deficiency type 1 is estimated to occur in 1 per million html:p Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system ar autosomal recessive ITGB2 https://ghr.nlm.nih.gov/gene/ITGB2 LAD1 db key 2014-04 2017-12-29
people worldwide. At least 300 cases of this condition have been reported in to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are leucocyte adhesion deficiency type 1 GTR C0398738
the scientific literature. conditions in which the immune system is not able to protect the body leukocyte adhesion molecule deficiency type 1 db key
effectively from foreign invaders such as viruses, bacteria, and fungi. Starting MeSH D018370
from birth, people with leukocyte adhesion deficiency type 1 develop serious db key
bacterial and fungal infections. OMIM 116920
html:p One of the first signs of leukocyte adhesion deficiency type 1 is a delay in the db key
detachment of the umbilical cord stump after birth. In newborns, the stump Orphanet 99842
normally falls off within the first two weeks of life; but, in infants with db key
leukocyte adhesion deficiency type 1, this separation usually occurs at three SNOMED CT 234582006
weeks or later. In addition, affected infants often have inflammation of the
umbilical cord stump (omphalitis) due to a bacterial infection.
html:p In leukocyte adhesion deficiency type 1, bacterial and fungal infections most
commonly occur on the skin and mucous membranes such as the moist lining of the
nose and mouth. In childhood, people with this condition develop severe
inflammation of the gums (gingivitis) and other tissue around the teeth
(periodontitis), which often results in the loss of both primary and permanent
teeth. These infections often spread to cover a large area. A hallmark of
leukocyte adhesion deficiency type 1 is the lack of pus formation at the sites
of infection. In people with this condition, wounds are slow to heal, which can
lead to additional infection.
html:p Life expectancy in individuals with leukocyte adhesion deficiency type 1 is
often severely shortened. Due to repeat infections, affected individuals may not
survive past infancy.
related-gene-list
Leukoencephalopathy with brainstem and spinal cord involvement and lactate https://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-brainstem-and-spinal- LBSL is a rare condition. Its exact prevalence is not known. html:p Leukoencephalopathy with brainstem and spinal cord involvement and lactate ar autosomal recessive DARS2 https://ghr.nlm.nih.gov/gene/DARS2 LBSL db key 2011-08 2017-12-29
elevation cord-involvement-and-lactate-elevation elevation (commonly referred to as LBSL) is a progressive disorder that affects mitochondrial aspartyl-tRNA synthetase deficiency GTR C1970180
the brain and spinal cord. Leukoencephalopathy refers to abnormalities in the db key
white matter of the brain, which is tissue containing nerve cell fibers (axons) GeneReviews lbsl
that transmit nerve impulses. db key
html:p Most affected individuals begin to develop movement problems during childhood or MeSH D056784
adolescence. However, in some individuals, these problems do not develop until db key
adulthood. People with LBSL have abnormal muscle stiffness (spasticity) and OMIM 611105
difficulty with coordinating movements (ataxia). In addition, affected db key
individuals lose the ability to sense the position of their limbs or vibrations Orphanet 137898
with their limbs. These movement and sensation problems affect the legs more db key
than the arms, making walking difficult. Most affected individuals eventually SNOMED CT 703537008
require wheelchair assistance, sometimes as early as their teens, although the
age varies.
html:p People with LBSL can have other signs and symptoms of the condition. Some
affected individuals develop recurrent seizures (epilepsy), speech difficulties
(dysarthria), learning problems, or mild deterioration of mental functioning.
Some people with this disorder are particularly vulnerable to severe
complications following minor head trauma, which may trigger a loss of
consciousness, other reversible neurological problems, or fever.
html:p Distinct changes in the brains of people with LBSL can be seen using magnetic
resonance imaging (MRI). These characteristic abnormalities typically involve
particular parts of the white matter of the brain and specific regions (called
tracts) within the brainstem and spinal cord, especially the pyramidal tract and
the dorsal column. In addition, most affected individuals have a high level of
a substance called lactate in the white matter of the brain, which is identified
using another test called magnetic resonance spectroscopy (MRS).
related-gene-list
Leukoencephalopathy with thalamus and brainstem involvement and high lactate https://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-thalamus-and-brainste LTBL is a rare condition. While its prevalence is unknown, at least 19 html:p Leukoencephalopathy with thalamus and brainstem involvement and high lactate ar autosomal recessive EARS2 https://ghr.nlm.nih.gov/gene/EARS2 combined oxidative phosphorylation deficiency 12 db key 2016-09 2017-12-29
m-involvement-and-high-lactate cases have been described in the medical literature. (LTBL) is a disorder that affects the brain. LTBL is one of a group of genetic COXPD12 GTR C3554079
disorders called leukodystrophies, which feature abnormalities of the nervous LTBL db key
system's white matter. White matter consists of nerve fibers covered by a fatty GeneReviews leukodys-ov
substance, called myelin, that insulates nerve fibers and promotes the rapid db key
transmission of nerve impulses. MeSH D056784
html:p LTBL is characterized by distinct changes in the brain, which can be seen using db key
magnetic resonance imaging (MRI). These abnormalities typically involve white OMIM 614924
matter in regions of the brain known as the cerebrum and cerebellum.
Abnormalities can also be seen in other regions of the brain, including the
brainstem, which is the part that connects to the spinal cord. Affected brain
regions include the thalamus, midbrain, pons, and medulla oblongata. Thinning of
the tissue that connects the left and right halves of the brain (the corpus
callosum) also occurs in people with LTBL. In addition, most affected
individuals have a high level of a substance called lactate in the brain and
elsewhere in the body.
html:p The severity of the condition varies. Mildly affected individuals usually
develop signs and symptoms after the age of 6 months. Loss of mental and
movement abilities (psychomotor regression), muscle stiffness (spasticity), and
extreme irritability are common, and some people with mild LTBL develop
seizures. However, after age 2, the signs and symptoms of the condition improve:
affected children regain some psychomotor abilities, seizures are reduced or
disappear, MRI results become more normal, and lactate levels drop.
html:p Severely affected individuals have features that begin soon after birth. These
infants typically have delayed development of mental and movement abilities
(psychomotor delay), weak muscle tone (hypotonia), involuntary muscle tensing
(dystonia), muscle spasticity, and seizures. Some have extremely high levels of
lactate (lactic acidosis), which can cause serious breathing problems and an
abnormal heartbeat. Liver failure occurs in some severely affected infants. In
severe cases, the signs and symptoms do not improve and can be life-threatening.
In some people with LTBL, the features fall between mild and severe.
related-gene-list
Leukoencephalopathy with vanishing white matter https://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-vanishing-white-matter The prevalence of leukoencephalopathy with vanishing white matter is html:p Leukoencephalopathy with vanishing white matter is a progressive disorder that ar autosomal recessive EIF2B1 https://ghr.nlm.nih.gov/gene/EIF2B1 CACH syndrome db key 2013-05 2017-12-29
Vanishing White Matter Disease unknown. Although it is a rare disorder, it is believed to be one of the most mainly affects the brain and spinal cord (central nervous system). This disorder related-gene gene-symbol ghr-page childhood ataxia with central nervous system hypomyelination GTR C1858991
白質消失症 common inherited diseases that affect the white matter. causes deterioration of the central nervous system's white matter, which EIF2B2 https://ghr.nlm.nih.gov/gene/EIF2B2 Cree leukoencephalopathy db key
consists of nerve fibers covered by myelin. Myelin is the fatty substance that related-gene gene-symbol ghr-page myelinosis centralis diffusa GeneReviews cach
insulates and protects nerves. EIF2B3 https://ghr.nlm.nih.gov/gene/EIF2B3 vanishing white matter disease db key
html:p In most cases, people with leukoencephalopathy with vanishing white matter show related-gene gene-symbol ghr-page vanishing white matter leukodystrophy MeSH D020279
no signs or symptoms of the disorder at birth. Affected children may have EIF2B4 https://ghr.nlm.nih.gov/gene/EIF2B4 db key
slightly delayed development of motor skills such as crawling or walking. During related-gene gene-symbol ghr-page MeSH D056784
early childhood, most affected individuals begin to develop motor symptoms, EIF2B5 https://ghr.nlm.nih.gov/gene/EIF2B5 db key
including abnormal muscle stiffness (spasticity) and difficulty with OMIM 603896
coordinating movements (ataxia). There may also be some deterioration of mental db key
functioning, but this is not usually as pronounced as the motor symptoms. Some Orphanet 135
affected females may have abnormal development of the ovaries (ovarian db key
dysgenesis). Specific changes in the brain as seen using magnetic resonance SNOMED CT 447351004
imaging (MRI) are characteristic of leukoencephalopathy with vanishing white
matter, and may be visible before the onset of symptoms.
html:p While childhood onset is the most common form of leukoencephalopathy with
vanishing white matter, some severe forms are apparent at birth. A severe,
early-onset form seen among the Cree and Chippewayan populations of Quebec and
Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident
until adolescence or adulthood, when behavioral or psychiatric problems may be
the first signs of the disease. Some females with milder forms of
leukoencephalopathy with vanishing white matter who survive to adolescence
exhibit ovarian dysfunction. This variant of the disorder is called
ovarioleukodystrophy.
html:p Progression of leukoencephalopathy with vanishing white matter is generally
uneven, with periods of relative stability interrupted by episodes of rapid
decline. People with this disorder are particularly vulnerable to stresses such
as infection, mild head trauma or other injury, or even extreme fright. These
stresses may trigger the first symptoms of the condition or worsen existing
symptoms, and can cause affected individuals to become lethargic or comatose.
related-gene-list
Leydig cell hypoplasia https://ghr.nlm.nih.gov/condition/leydig-cell-hypoplasia Leydig cell hypoplasia is a rare disorder; its prevalence is unknown. html:p Leydig cell hypoplasia is a condition that affects male sexual development. It ar autosomal recessive LHCGR https://ghr.nlm.nih.gov/gene/LHCGR 46,XY disorder of sex development due to LH defects db key 2010-04 2017-12-29
Leydig細胞發育不全 is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. LCH GTR C0266432
Leydig cells secrete male sex hormones (androgens) that are important for Leydig cell agenesis db key
normal male sexual development before birth and during puberty. LH resistance due to LH receptor deactivation MeSH D058490
html:p In Leydig cell hypoplasia, affected individuals with a typical male chromosomal male hypergonadotropic hypogonadism due to LHCGR defect db key
pattern (46,XY) may have a range of genital abnormalities. Affected males may OMIM 238320
have a small penis (micropenis), the opening of the urethra on the underside of db key
the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Orphanet 755
Because of these abnormalities, the external genitalia may not look clearly male db key
or clearly female (ambiguous genitalia). SNOMED CT 56212008
html:p In more severe cases of Leydig cell hypoplasia, people with a typical male
chromosomal pattern (46,XY) have female external genitalia. They have small
testes that are undescended, which means they are abnormally located in the
pelvis, abdomen, or groin. People with this form of the disorder do not develop
secondary sex characteristics, such as increased body hair, at puberty. Some
researchers refer to this form of Leydig cell hypoplasia as type 1 and designate
less severe cases as type 2.
related-gene-list
Li-Fraumeni syndrome https://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of html:p Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of ad autosomal dominant CHEK2 https://ghr.nlm.nih.gov/gene/CHEK2 LFS db key 2007-01 2017-12-29
李-佛美尼症候群 Li-Fraumeni syndrome patients suggests that about 400 people from 64 families developing several types of cancer, particularly in children and young adults. related-gene gene-symbol ghr-page Sarcoma family syndrome of Li and Fraumeni GTR C0085390
(Cancer) have this disorder. html:p The cancers most often associated with Li-Fraumeni syndrome include breast TP53 https://ghr.nlm.nih.gov/gene/TP53 Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome db key
cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues SBLA syndrome GTR C1835398
(such as muscle) called soft tissue sarcomas. Other cancers commonly seen in db key
this syndrome include brain tumors, cancers of blood-forming tissues GTR C1836482
(leukemias), and a cancer called adrenocortical carcinoma that affects the outer db key
layer of the adrenal glands (small hormone-producing glands on top of each GeneReviews li-fraumeni
kidney). Several other types of cancer also occur more frequently in people db key
with Li-Fraumeni syndrome. ICD-10-CM Z15.01
html:p A very similar condition called Li-Fraumeni-like syndrome shares many of the db key
features of classic Li-Fraumeni syndrome. Both conditions significantly MeSH D016864
increase the chances of developing multiple cancers beginning in childhood; db key
however, the pattern of specific cancers seen in affected family members is OMIM 151623
different. db key
OMIM 609265
db key
Orphanet 524
db key
related-gene-list SNOMED CT 428850001
Liddle syndrome https://ghr.nlm.nih.gov/condition/liddle-syndrome Liddle syndrome is a rare condition, although its prevalence is unknown. html:p Liddle syndrome is an inherited form of high blood pressure (hypertension). This ad autosomal dominant SCNN1B https://ghr.nlm.nih.gov/gene/SCNN1B pseudoaldosteronism db key 2013-03 2017-12-29
李德爾氏綜合徵 The condition has been found in populations worldwide. condition is characterized by severe hypertension that begins unusually early related-gene gene-symbol ghr-page pseudoprimary hyperaldosteronism GTR C0221043
in life, often in childhood, although some affected individuals are not SCNN1G https://ghr.nlm.nih.gov/gene/SCNN1G db key
diagnosed until adulthood. Some people with Liddle syndrome have no additional MeSH D056929
signs or symptoms, especially in childhood. Over time, however, untreated db key
hypertension can lead to heart disease or stroke, which may be fatal. OMIM 177200
html:p In addition to hypertension, affected individuals can have low levels of db key
potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include Orphanet 526
muscle weakness or pain, fatigue, constipation, or heart palpitations. The db key
shortage of potassium can also raise the pH of the blood, a condition known as SNOMED CT 707747007
metabolic alkalosis.
related-gene-list
Liebenberg syndrome https://ghr.nlm.nih.gov/condition/liebenberg-syndrome Liebenberg syndrome is a rare condition. Fewer than 10 affected families html:p Liebenberg syndrome is a condition that involves abnormal development of the ad autosomal dominant PITX1 https://ghr.nlm.nih.gov/gene/PITX1 brachydactyly-elbow wrist dysplasia syndrome db key 2016-09 2017-12-29
Liebenberg综合征 have been described in the medical literature. arms, resulting in characteristic arm malformations that can vary in severity. brachydactyly with joint dysplasia GTR C1861313
In people with this condition, bones and other tissues in the elbows, forearms, carpal synostosis with dysplastic elbow joints and brachydactyly db key
wrists, and hands have characteristics of related structures in the lower limbs. MeSH D038062
For example, bones in the elbows are abnormally shaped, which affects mobility db key
of the joints. The stiff elbows function more like knees, unable to rotate as OMIM 186550
freely as elbows normally do. Bones in the wrists are joined together (fused), db key
forming structures that resemble those in the ankles and heels and causing Orphanet 1275
permanent bending of the hand toward the thumb (radial deviation). The bones in
the hands (metacarpals) are longer than normal, and the fingers are short
(brachydactyly), similar to the proportions of bones found in the feet. In
addition, muscles and tendons that are typically found only in the hands and not
in the feet are missing in people with Liebenberg syndrome. Affected
individuals also have joint deformities (contractures) that limit movement of
the elbows, wrists, and hands. Development of the lower limbs is normal in
people with this condition.
html:p Individuals with Liebenberg syndrome have no other health problems related to
this condition, and life expectancy is normal.
related-gene-list
Limb-girdle muscular dystrophy https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy It is difficult to determine the prevalence of limb-girdle muscular html:p Limb-girdle muscular dystrophy is a term for a group of diseases that cause ad autosomal dominant ANO5 https://ghr.nlm.nih.gov/gene/ANO5 LGMD db key 2014-12 2017-12-29
肢帶型肌肉失養症 dystrophy because its features vary and overlap with those of other muscle weakness and wasting of the muscles in the arms and legs. The muscles most code memo related-gene gene-symbol ghr-page limb-girdle syndrome GTR C0686353
肢帶型肌營養不良症 disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 affected are those closest to the body (proximal muscles), specifically the ar autosomal recessive CAPN3 https://ghr.nlm.nih.gov/gene/CAPN3 myopathic limb-girdle syndrome db key
individuals. muscles of the shoulders, upper arms, pelvic area, and thighs. related-gene gene-symbol ghr-page GeneReviews cav
html:p The severity, age of onset, and features of limb-girdle muscle dystrophy vary CAV3 https://ghr.nlm.nih.gov/gene/CAV3 db key
among the many subtypes of this condition and may be inconsistent even within related-gene gene-symbol ghr-page GeneReviews lgmd-overview
the same family. Signs and symptoms may first appear at any age and generally DNAJB6 https://ghr.nlm.nih.gov/gene/DNAJB6 db key
worsen with time, although in some cases they remain mild. related-gene gene-symbol ghr-page GeneReviews lgmd2a
html:p In the early stages of limb-girdle muscular dystrophy, affected individuals may DYSF https://ghr.nlm.nih.gov/gene/DYSF db key
have an unusual walking gait, such as waddling or walking on the balls of their related-gene gene-symbol ghr-page GeneReviews miyoshi
feet, and may also have difficulty running. They may need to use their arms to FKRP https://ghr.nlm.nih.gov/gene/FKRP db key
press themselves up from a squatting position because of their weak thigh related-gene gene-symbol ghr-page MeSH D049288
muscles. As the condition progresses, people with limb-girdle muscular dystrophy FKTN https://ghr.nlm.nih.gov/gene/FKTN db key
may eventually require wheelchair assistance. related-gene gene-symbol ghr-page OMIM 159000
html:p Muscle wasting may cause changes in posture or in the appearance of the HNRNPDL https://ghr.nlm.nih.gov/gene/HNRNPDL db key
shoulder, back, and arm. In particular, weak shoulder muscles tend to make the related-gene gene-symbol ghr-page OMIM 159001
shoulder blades (scapulae) "stick out" from the back, a sign known as scapular ISPD https://ghr.nlm.nih.gov/gene/ISPD db key
winging. Affected individuals may also have an abnormally curved lower back related-gene gene-symbol ghr-page OMIM 253600
(lordosis) or a spine that curves to the side (scoliosis). Some develop joint LMNA https://ghr.nlm.nih.gov/gene/LMNA db key
stiffness (contractures) that can restrict movement in their hips, knees, related-gene gene-symbol ghr-page OMIM 253601
ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some MYOT https://ghr.nlm.nih.gov/gene/MYOT db key
people with limb-girdle muscular dystrophy. related-gene gene-symbol ghr-page OMIM 253700
html:p Weakening of the heart muscle (cardiomyopathy) occurs in some forms of POMGNT1 https://ghr.nlm.nih.gov/gene/POMGNT1 db key
limb-girdle muscular dystrophy. Some affected individuals experience mild to related-gene gene-symbol ghr-page OMIM 254110
severe breathing problems related to the weakness of muscles needed for POMT1 https://ghr.nlm.nih.gov/gene/POMT1 db key
breathing. In some cases, the breathing problems are severe enough that affected related-gene gene-symbol ghr-page OMIM 601287
individuals need to use a machine to help them breathe (mechanical POMT2 https://ghr.nlm.nih.gov/gene/POMT2 db key
ventilation). related-gene gene-symbol ghr-page OMIM 601954
html:p Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, SGCA https://ghr.nlm.nih.gov/gene/SGCA db key
developmental delay and intellectual disability have been reported in rare related-gene gene-symbol ghr-page OMIM 603511
forms of the disorder. SGCB https://ghr.nlm.nih.gov/gene/SGCB db key
related-gene gene-symbol ghr-page OMIM 604286
SGCD https://ghr.nlm.nih.gov/gene/SGCD db key
related-gene gene-symbol ghr-page OMIM 607155
SGCG https://ghr.nlm.nih.gov/gene/SGCG db key
related-gene gene-symbol ghr-page OMIM 607801
TCAP https://ghr.nlm.nih.gov/gene/TCAP db key
related-gene gene-symbol ghr-page OMIM 608099
TNPO3 https://ghr.nlm.nih.gov/gene/TNPO3 db key
related-gene gene-symbol ghr-page OMIM 608423
TRAPPC11 https://ghr.nlm.nih.gov/gene/TRAPPC11 db key
related-gene gene-symbol ghr-page OMIM 608807
TRIM32 https://ghr.nlm.nih.gov/gene/TRIM32 db key
related-gene gene-symbol ghr-page OMIM 609115
TTN https://ghr.nlm.nih.gov/gene/TTN db key
OMIM 609308
db key
OMIM 611307
db key
OMIM 611588
db key
OMIM 613157
db key
OMIM 613158
db key
OMIM 613530
db key
Orphanet 263
db key
SNOMED CT 240056002
db key
SNOMED CT 240064008
db key
related-gene-list SNOMED CT 93153005
Lipoid proteinosis https://ghr.nlm.nih.gov/condition/lipoid-proteinosis Lipoid proteinosis is thought to be a rare condition; fewer than 500 cases html:p Lipoid proteinosis is a condition that results from the formation of numerous ar autosomal recessive ECM1 https://ghr.nlm.nih.gov/gene/ECM1 hyalinosis cutis et mucosae db key 2016-07 2017-12-29
脂質蛋白沉積症 have been described in the scientific literature. This condition occurs more small clumps (deposits) of proteins and other molecules in various tissues lipid proteinosis GTR C0023795
frequently in certain areas of the world, including Turkey, Iran, and the throughout the body. These tiny clumps appear in the skin, upper respiratory lipoglycoproteinosis db key
Northern Cape province of South Africa. tract, the moist tissues that line body openings such as the eyelids and the lipoid proteinosis of Urbach and Wiethe GeneReviews lipoid-p
inside of the mouth (mucous membranes), and other areas. lipoidosis cutis et mucosae db key
html:p The first symptom of this condition is usually a hoarse voice, which is due to lipoidproteinosis MeSH D008065
deposits in the vocal cords. In infancy the hoarseness is expressed as a weak lipoproteinosis db key
cry. The voice abnormalities persist throughout life and can ultimately cause Urbach-Wiethe disease OMIM 247100
difficulty speaking or complete loss of speech. Involvement of the throat, Urbach-Wiethe lipoid proteinosis db key
tonsils, and lips can result in breathing problems and upper respiratory tract Urbach-Wiethe syndrome Orphanet 530
infections. Deposits in the tongue can result in a thick and shortened tongue. db key
They can also thicken the band of tissue that connects the tongue to the bottom SNOMED CT 38692000
of the mouth (frenulum), making it difficult to extend the tongue. The tongue
may also have a smooth appearance due to damage to the taste buds.
html:p A characteristic feature of lipoid proteinosis is the presence of multiple tiny,
bead-like bumps lining the upper and lower eyelids along the lash line. These
bumps are known as moniliform blepharosis. They may cause eyeball irritation or
itching but generally do not impair vision.
html:p The skin and mucous membranes are often fragile in children with lipoid
proteinosis, leading to bleeding and scabbing following minor trauma. These
problems often first appear in infancy in the mouth and on the face and limbs.
Over time, these scabs form blisters and scars. Deposits accumulate in the skin,
which causes the skin to become thickened and yellowish in color. Skin damage
appears more frequently on areas that experience friction, such as the hands,
elbows, knees, buttocks, and armpits. Some people with this condition have hair
loss (alopecia) affecting their scalp, eyelashes, and eyebrows.
html:p Neurologic features are also common in people with lipoid proteinosis. Affected
individuals may have recurrent seizures (epilepsy) or behavioral and
neurological problems, which can include headaches, aggressive behaviors,
paranoia, hallucinations, short-term memory loss, and absence of fear. These
features are thought to be associated with the presence of deposits and an
accumulation of calcium (calcification) in areas of the brain called the
temporal lobes. The temporal lobes help process hearing, speech, memory, and
emotion. The brain abnormalities and neurological features do not always occur
together, so the cause of the neurological features is still unclear.
html:p Deposits can be found in some internal organs, including the stomach, a section
of the small intestine called the duodenum, and the colon. The deposits in these
tissues often do not cause any symptoms and may disappear over time.
related-gene-list
Lissencephaly with cerebellar hypoplasia https://ghr.nlm.nih.gov/condition/lissencephaly-with-cerebellar-hypoplasia LCH is a rare condition, although its prevalence is unknown. html:p Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, ad autosomal dominant RELN https://ghr.nlm.nih.gov/gene/RELN LCH db key 2013-08 2017-12-29
無腦回畸形小腦發育不全 resulting in the brain having a smooth appearance (lissencephaly) instead of its code memo related-gene gene-symbol ghr-page LIS2 GTR C0796089
normal folds and grooves. In addition, the part of the brain that coordinates ar autosomal recessive TUBA1A https://ghr.nlm.nih.gov/gene/TUBA1A LIS3 db key
movement is unusually small and underdeveloped (cerebellar hypoplasia). Other lissencephaly 2 GTR C1969029
parts of the brain are also often underdeveloped in LCH, including the lissencephaly 3 db key
hippocampus, which plays a role in learning and memory, and the part of the lissencephaly syndrome, Norman-Roberts type ICD-10-CM Q04.3
brain that is connected to the spinal cord (the brainstem). Norman-Roberts syndrome db key
html:p Individuals with LCH have moderate to severe intellectual disability and delayed MeSH D054221
development. They have few or no communication skills, extremely poor muscle db key
tone (hypotonia), problems with coordination and balance (ataxia), and OMIM 257320
difficulty sitting or standing without support. Most affected children db key
experience recurrent seizures (epilepsy) that begin within the first months of OMIM 611603
life. Some affected individuals have nearsightedness (myopia), involuntary eye db key
movements (nystagmus), or puffiness or swelling caused by a buildup of fluids in Orphanet 89844
the body's tissues (lymphedema). db key
SNOMED CT 715817007
db key
related-gene-list SNOMED CT 717977003
Loeys-Dietz syndrome https://ghr.nlm.nih.gov/condition/loeys-dietz-syndrome The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome html:p Loeys-Dietz syndrome is a disorder that affects the connective tissue in many ad autosomal dominant SMAD3 https://ghr.nlm.nih.gov/gene/SMAD3 LDS db key 2017-03 2017-12-29
Loeys-Dietz综合征 types I and II appear to be the most common forms. parts of the body. Connective tissue provides strength and flexibility to related-gene gene-symbol ghr-page Loeys-Dietz aortic aneurysm syndrome GTR C2674876
Loeys-Dietz 症候群 structures such as bones, ligaments, muscles, and blood vessels. TGFB2 https://ghr.nlm.nih.gov/gene/TGFB2 db key
(Connective tissue) html:p There are five types of Loeys-Dietz syndrome, labelled types I through V, which related-gene gene-symbol ghr-page GTR C2697932
are distinguished by their genetic cause. Regardless of the type, signs and TGFB3 https://ghr.nlm.nih.gov/gene/TGFB3 db key
symptoms of Loeys-Dietz syndrome can become apparent anytime from childhood related-gene gene-symbol ghr-page GTR C2697933
through adulthood, and the severity is variable. TGFBR1 https://ghr.nlm.nih.gov/gene/TGFBR1 db key
html:p Loeys-Dietz syndrome is characterized by enlargement of the aorta, which is the related-gene gene-symbol ghr-page GTR C3151087
large blood vessel that distributes blood from the heart to the rest of the TGFBR2 https://ghr.nlm.nih.gov/gene/TGFBR2 db key
body. The aorta can weaken and stretch, causing a bulge in the blood vessel wall GTR C3553762
(an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the db key
layers in the aorta wall (aortic dissection). People with Loeys-Dietz syndrome GTR C3810012
can also have aneurysms or dissections in arteries throughout the body and have db key
arteries with abnormal twists and turns (arterial tortuosity). GeneReviews loeys-dietz
html:p Individuals with Loeys-Dietz syndrome often have skeletal problems including db key
premature fusion of the skull bones (craniosynostosis), an abnormal side-to-side MeSH D055947
curvature of the spine (scoliosis), either a sunken chest (pectus excavatum) or db key
a protruding chest (pectus carinatum), an inward- and upward-turning foot OMIM 609192
(clubfoot), flat feet (pes planus), or elongated limbs with joint deformities db key
called contractures that restrict the movement of certain joints. A membrane OMIM 610168
called the dura, which surrounds the brain and spinal cord, can be abnormally db key
enlarged (dural ectasia). In individuals with Loeys-Dietz syndrome, dural OMIM 613795
ectasia typically does not cause health problems. Malformation or instability of db key
the spinal bones (vertebrae) in the neck is a common feature of Loeys-Dietz OMIM 614816
syndrome and can lead to injuries to the spinal cord. Some affected individuals db key
have joint inflammation (osteoarthritis) that commonly affects the knees and the OMIM 615582
joints of the hands, wrists, and spine. db key
html:p People with Loeys-Dietz syndrome may bruise easily and develop abnormal scars Orphanet 60030
after wound healing. The skin is frequently described as translucent, often with db key
stretch marks (striae) and visible underlying veins. Some individuals with SNOMED CT 446263001
Loeys-Dietz syndrome develop an abnormal accumulation of air in the chest cavity
that can result in the collapse of a lung (spontaneous pneumothorax) or a
protrusion of organs through gaps in muscles (hernias). Other characteristic
features include widely spaced eyes (hypertelorism), eyes that do not point in
the same direction (strabismus), a split in the soft flap of tissue that hangs
from the back of the mouth (bifid uvula), and an opening in the roof of the
mouth (cleft palate).
html:p Individuals with Loeys-Dietz syndrome frequently develop immune system-related
problems such as food allergies, asthma, or inflammatory disorders such as
eczema or inflammatory bowel disease.
related-gene-list
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency The incidence of LCHAD deficiency is unknown. One estimate, based on a html:p Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare ar autosomal recessive HADHA https://ghr.nlm.nih.gov/gene/HADHA 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency db key 2017-05 2017-12-29
iciency Finnish population, indicates that 1 in 62,000 pregnancies is affected by this condition that prevents the body from converting certain fats to energy, LCHAD deficiency GTR CN074230
disorder. In the United States, the incidence is probably much lower. particularly during periods without food (fasting). long-chain 3-hydroxy acyl CoA dehydrogenase deficiency db key
html:p Signs and symptoms of LCHAD deficiency typically appear during infancy or early long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency MeSH D008052
childhood and can include feeding difficulties, lack of energy (lethargy), low long-chain 3-OH acyl-CoA dehydrogenase deficiency db key
blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and trifunctional protein deficiency, type 1 OMIM 609016
abnormalities in the light-sensitive tissue at the back of the eye (retina). db key
Later in childhood, people with this condition may experience muscle pain, Orphanet 5
breakdown of muscle tissue, and a loss of sensation in their arms and legs db key
(peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for SNOMED CT 307127004
serious heart problems, breathing difficulties, coma, and sudden death.
html:p Problems related to LCHAD deficiency can be triggered when the body is under
stress, for example during periods of fasting, illnesses such as viral
infections, or weather extremes. This disorder is sometimes mistaken for Reye
syndrome, a severe disorder that may develop in children while they appear to be
recovering from viral infections such as chicken pox or flu. Most cases of Reye
syndrome are associated with the use of aspirin during these viral infections.
related-gene-list
Lowe syndrome https://ghr.nlm.nih.gov/condition/lowe-syndrome Lowe syndrome is an uncommon condition. It has an estimated prevalence of html:p Lowe syndrome is a condition that primarily affects the eyes, brain, and xr X-linked recessive OCRL https://ghr.nlm.nih.gov/gene/OCRL cerebrooculorenal syndrome db key 2013-11 2017-12-29
Lowe 氏综合征 1 in 500,000 people. kidneys. This disorder occurs almost exclusively in males. Lowe oculocerebrorenal syndrome GTR C0028860
Lowe氏症候群 html:p Infants with Lowe syndrome are born with thick clouding of the lenses in both oculocerebrorenal syndrome db key
eyes (congenital cataracts), often with other eye abnormalities that can impair oculocerebrorenal syndrome of Lowe GeneReviews lowe
vision. About half of affected infants develop an eye disease called infantile phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency db key
glaucoma, which is characterized by increased pressure within the eyes. ICD-10-CM E72.03
html:p Many individuals with Lowe syndrome have delayed development, and intellectual db key
ability ranges from normal to severely impaired. Behavioral problems and MeSH D009800
seizures have also been reported in children with this condition. Most affected db key
children have weak muscle tone from birth (neonatal hypotonia), which can OMIM 309000
contribute to feeding difficulties, problems with breathing, and delayed db key
development of motor skills such as sitting, standing, and walking. Orphanet 534
html:p Kidney (renal) abnormalities, most commonly a condition known as renal Fanconi db key
syndrome, frequently develop in individuals with Lowe syndrome. The kidneys play SNOMED CT 79385002
an essential role in maintaining the right amounts of minerals, salts, water,
and other substances in the body. In individuals with renal Fanconi syndrome,
the kidneys are unable to reabsorb important nutrients into the bloodstream.
Instead, the nutrients are excreted in the urine. These kidney problems lead to
increased urination, dehydration, and abnormally acidic blood (metabolic
acidosis). A loss of salts and nutrients may also impair growth and result in
soft, bowed bones (hypophosphatemic rickets), especially in the legs.
Progressive kidney problems in older children and adults with Lowe syndrome can
lead to life-threatening renal failure and end-stage renal disease (ESRD).
related-gene-list
Lujan syndrome https://ghr.nlm.nih.gov/condition/lujan-syndrome Lujan syndrome appears to be an uncommon condition, but its prevalence is html:p Lujan syndrome is a condition characterized by intellectual disability, xr X-linked recessive MED12 https://ghr.nlm.nih.gov/gene/MED12 LFS db key 2012-12 2017-12-29
鲁扬综合征 unknown. behavioral problems, and certain physical features. It occurs almost exclusively Lujan-Fryns syndrome GTR C0796022
in males. X-linked intellectual deficit with marfanoid habitus db key
html:p The intellectual disability associated with Lujan syndrome is usually mild to X-linked mental retardation with marfanoid habitus GeneReviews fg
moderate. Behavioral problems can include hyperactivity, aggressiveness, extreme XLMR with marfanoid features db key
shyness, and excessive attention-seeking. Some affected individuals have MeSH D038901
features of autism or related developmental disorders affecting communication db key
and social interaction. A few have been diagnosed with psychiatric problems such OMIM 309520
as delusions and hallucinations. db key
html:p Characteristic physical features of Lujan syndrome include a tall, thin body and Orphanet 776
an unusually large head (macrocephaly). Affected individuals also have a long, db key
thin face with distinctive facial features such as a prominent top of the nose SNOMED CT 422437002
(high nasal root); a short space between the nose and the upper lip (philtrum);
a narrow roof of the mouth (palate); crowded teeth; and a small chin
(micrognathia). Almost all people with this condition have weak muscle tone
(hypotonia).
html:p Additional signs and symptoms of Lujan syndrome can include abnormal speech,
heart defects, and abnormalities of the genitourinary system. Many affected
individuals have long fingers and toes with an unusually large range of joint
movement (hyperextensibility). Seizures and abnormalities of the tissue that
connects the left and right halves of the brain (corpus callosum) have also been
reported in people with this condition.
related-gene-list
Lung cancer https://ghr.nlm.nih.gov/condition/lung-cancer In the United States, it is estimated that more than 221,000 people develop html:p Lung cancer is a disease in which certain cells in the lungs become abnormal and ad autosomal dominant ALK https://ghr.nlm.nih.gov/gene/ALK cancer of bronchus db key 2015-10 2017-12-29
lung cancer each year. An estimated 72 to 80 percent of lung cancer cases occur multiply uncontrollably to form a tumor. Lung cancer may or may not cause signs code memo related-gene gene-symbol ghr-page cancer of the lung GTR C0007131
in tobacco smokers.Approximately 6.6 percent of individuals will develop lung or symptoms in its early stages. Some people with lung cancer have chest pain, n not inherited BRAF https://ghr.nlm.nih.gov/gene/BRAF lung malignancies db key
cancer during their lifetime. It is the leading cause of cancer deaths, frequent coughing, breathing problems, trouble swallowing or speaking, blood in related-gene gene-symbol ghr-page lung malignant tumors GTR C0684249
accounting for an estimated 27 percent of all cancer deaths in the United the mucus, loss of appetite and weight loss, fatigue, or swelling in the face or DDR2 https://ghr.nlm.nih.gov/gene/DDR2 lung neoplasms db key
States. neck. Lung cancer occurs most often in adults in their sixties or seventies. related-gene gene-symbol ghr-page malignant lung tumor ICD-10-CM C34
Most people who develop lung cancer have a history of long-term tobacco smoking; EGFR https://ghr.nlm.nih.gov/gene/EGFR malignant neoplasm of lung db key
however, the condition can occur in people who have never smoked. related-gene gene-symbol ghr-page malignant tumor of lung ICD-10-CM C34.0
html:p Lung cancer is generally divided into two types, small cell lung cancer and ERBB2 https://ghr.nlm.nih.gov/gene/ERBB2 pulmonary cancer db key
non-small cell lung cancer, based on the size of the affected cells when viewed related-gene gene-symbol ghr-page pulmonary carcinoma ICD-10-CM C34.00
under a microscope. Non-small cell lung cancer accounts for 85 percent of lung KRAS https://ghr.nlm.nih.gov/gene/KRAS pulmonary neoplasms db key
cancer, while small cell lung cancer accounts for the remaining 15 percent. related-gene gene-symbol ghr-page respiratory carcinoma ICD-10-CM C34.01
html:p Small cell lung cancer grows quickly and often spreads to other tissues MAP2K1 https://ghr.nlm.nih.gov/gene/MAP2K1 db key
(metastasizes), most commonly to the adrenal glands (small hormone-producing related-gene gene-symbol ghr-page ICD-10-CM C34.1
glands located on top of each kidney), liver, brain, and bones. In more than NRAS https://ghr.nlm.nih.gov/gene/NRAS db key
half of cases, the small cell lung cancer has spread beyond the lung at the time related-gene gene-symbol ghr-page ICD-10-CM C34.02
of diagnosis. After diagnosis, most people with small cell lung cancer survive PIK3CA https://ghr.nlm.nih.gov/gene/PIK3CA db key
for about one year; less than seven percent survive 5 years. related-gene gene-symbol ghr-page ICD-10-CM C34.2
html:p Non-small cell lung cancer is divided into three main subtypes: adenocarcinoma, PTEN https://ghr.nlm.nih.gov/gene/PTEN db key
squamous cell carcinoma, and large cell lung carcinoma. Adenocarcinoma arises related-gene gene-symbol ghr-page ICD-10-CM C34.3
from the cells that line the small air sacs (alveoli) located throughout the RET https://ghr.nlm.nih.gov/gene/RET db key
lungs. Squamous cell carcinoma arises from the squamous cells that line the related-gene gene-symbol ghr-page ICD-10-CM C34.9
passages leading from the windpipe to the lungs (bronchi). Large cell carcinoma RIT1 https://ghr.nlm.nih.gov/gene/RIT1 db key
describes non-small cell lung cancers that do not appear to be adenocarcinomas related-gene gene-symbol ghr-page ICD-10-CM C34.10
or squamous cell carcinomas. As the name suggests, the tumor cells are large ROS1 https://ghr.nlm.nih.gov/gene/ROS1 db key
when viewed under a microscope. The 5-year survival rate for people with ICD-10-CM C34.11
non-small cell lung cancer is usually between 11 and 17 percent; it can be lower db key
or higher depending on the subtype and stage of the cancer. ICD-10-CM C34.12
db key
ICD-10-CM C34.30
db key
ICD-10-CM C34.31
db key
ICD-10-CM C34.32
db key
ICD-10-CM C34.90
db key
ICD-10-CM C34.91
db key
ICD-10-CM C34.92
db key
MeSH D002289
db key
MeSH D008175
db key
MeSH D055752
db key
OMIM 211980
db key
Orphanet 70573
db key
related-gene-list SNOMED CT 363358000
Lymphangioleiomyomatosis https://ghr.nlm.nih.gov/condition/lymphangioleiomyomatosis LAM occurs in approximately 30 percent of women with tuberous sclerosis html:p Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the n not inherited TSC1 https://ghr.nlm.nih.gov/gene/TSC1 LAM db key 2017-03 2017-12-29
淋巴管平滑肌增生症 complex. Sporadic LAM, which occurs without tuberous sclerosis complex, is kidneys, and the lymphatic system. The lymphatic system consists of a network of related-gene gene-symbol ghr-page lymphangiomyomatosis GTR C0751674
(Cancer) estimated to affect 3.3 to 7.4 per million women worldwide. This condition may vessels that transport lymph fluid and immune cells throughout the body. Lymph TSC2 https://ghr.nlm.nih.gov/gene/TSC2 db key
be underdiagnosed because its symptoms are similar to those of other lung fluid helps exchange immune cells, proteins, and other substances between the ICD-10-CM J84.81
disorders such as asthma, bronchitis, and chronic obstructive pulmonary disease. blood and tissues. db key
html:p LAM is found almost exclusively in women. It often occurs as a feature of an MeSH D018192
inherited syndrome called tuberous sclerosis complex. When LAM occurs alone it db key
is called isolated or sporadic LAM. OMIM 606690
html:p Signs and symptoms of LAM most often appear during a woman's thirties. Affected db key
women have an overgrowth of abnormal smooth muscle-like cells (LAM cells) in the Orphanet 538
lungs, resulting in the formation of lung cysts and the destruction of normal db key
lung tissue. They may also have an accumulation of fluid in the cavity around SNOMED CT 277844007
the lungs (chylothorax).
html:p The lung abnormalities resulting from LAM may cause difficulty breathing
(dyspnea), chest pain, and coughing, which may bring up blood (hemoptysis). Many
women with this disorder have recurrent episodes of collapsed lung (spontaneous
pneumothorax). The lung problems may be progressive and, without lung
transplantation, may eventually lead to limitations in activities of daily
living, the need for oxygen therapy, and respiratory failure. Although LAM cells
are not considered cancerous, they may spread between tissues (metastasize). As
a result, the condition may recur even after lung transplantation.
html:p Women with LAM may develop cysts in the lymphatic vessels of the chest and
abdomen. These cysts are called lymphangioleiomyomas. Affected women may also
develop tumors called angiomyolipomas made up of LAM cells, fat cells, and blood
vessels. Angiomyolipomas usually develop in the kidneys. Internal bleeding is a
common complication of angiomyolipomas.
related-gene-list
Lymphedema-distichiasis syndrome https://ghr.nlm.nih.gov/condition/lymphedema-distichiasis-syndrome The prevalence of lymphedema-distichiasis syndrome is unknown. Because html:p Lymphedema-distichiasis syndrome is a condition that affects the normal function ad autosomal dominant FOXC2 https://ghr.nlm.nih.gov/gene/FOXC2 distichiasis-lymphedema syndrome db key 2014-02 2017-12-29
the extra eyelashes can be overlooked during a medical examination, researchers of the lymphatic system, which is a part of the circulatory and immune systems. lymphedema with distichiasis GTR C0265345
believe that some people with this condition may be misdiagnosed as having The lymphatic system produces and transports fluids and immune cells throughout db key
lymphedema only. the body. People with lymphedema-distichiasis syndrome develop puffiness or GeneReviews lds
swelling (lymphedema) of the limbs, typically the legs and feet. Another db key
characteristic of this syndrome is the growth of extra eyelashes (distichiasis), MeSH D008209
ranging from a few extra eyelashes to a full extra set on both the upper and db key
lower lids. These eyelashes do not grow along the edge of the eyelid, but out OMIM 153400
of its inner lining. When the abnormal eyelashes touch the eyeball, they can db key
cause damage to the clear covering of the eye (cornea). Related eye problems can Orphanet 33001
include an irregular curvature of the cornea causing blurred vision db key
(astigmatism) or scarring of the cornea. Other health problems associated with SNOMED CT 8634009
this disorder include swollen and knotted (varicose) veins, droopy eyelids
(ptosis), heart abnormalities, and an opening in the roof of the mouth (a cleft
palate).
html:p All people with lymphedema-distichiasis syndrome have extra eyelashes present at
birth. The age of onset of lymphedema varies, but it most often begins during
puberty. Males usually develop lymphedema earlier than females, but all affected
individuals will develop lymphedema by the time they are in their forties.
related-gene-list
Lynch syndrome https://ghr.nlm.nih.gov/condition/lynch-syndrome In the United States, about 140,000 new cases of colorectal cancer are html:p Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), ad autosomal dominant EPCAM https://ghr.nlm.nih.gov/gene/EPCAM cancer family syndrome db key 2013-05 2017-12-29
(Cancer) diagnosed each year. Approximately 3 to 5 percent of these cancers are caused by is an inherited disorder that increases the risk of many types of cancer, related-gene gene-symbol ghr-page familial nonpolyposis colon cancer GTR C1333990
Lynch综合症 Lynch syndrome. particularly cancers of the colon (large intestine) and rectum, which are MLH1 https://ghr.nlm.nih.gov/gene/MLH1 hereditary nonpolyposis colorectal cancer db key
collectively referred to as colorectal cancer. People with Lynch syndrome also related-gene gene-symbol ghr-page hereditary nonpolyposis colorectal neoplasms GTR C1333991
have an increased risk of cancers of the stomach, small intestine, liver, MSH2 https://ghr.nlm.nih.gov/gene/MSH2 HNPCC db key
gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women related-gene gene-symbol ghr-page GTR C1833477
with this disorder have a high risk of cancer of the ovaries and lining of the MSH6 https://ghr.nlm.nih.gov/gene/MSH6 db key
uterus (the endometrium). People with Lynch syndrome may occasionally have related-gene gene-symbol ghr-page GTR C1838333
noncancerous (benign) growths (polyps) in the colon, called colon polyps. In PMS2 https://ghr.nlm.nih.gov/gene/PMS2 db key
individuals with this disorder, colon polyps occur earlier but not in greater GTR C1838344
numbers than they do in the general population. db key
GTR C2750471
db key
GTR C2936783
db key
GeneReviews hnpcc
db key
MeSH D003123
db key
OMIM 114500
db key
OMIM 120435
db key
Orphanet 144
db key
related-gene-list SNOMED CT 716318002
Lysinuric protein intolerance https://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance Lysinuric protein intolerance is estimated to occur in 1 in 60,000 newborns html:p Lysinuric protein intolerance is a disorder caused by the body's inability to ar autosomal recessive SLC7A7 https://ghr.nlm.nih.gov/gene/SLC7A7 Congenital lysinuria db key 2008-03 2017-12-29
賴氨酸蛋白不耐受 in Finland and 1 in 57,000 newborns in Japan. Outside these populations this digest and use certain protein building blocks (amino acids), namely lysine, Hyperdibasic aminoaciduria GTR C0268647
condition occurs less frequently, but the exact incidence is unknown. arginine, and ornithine. Because the body cannot effectively break down these LPI db key
amino acids, which are found in many protein-rich foods, nausea and vomiting are LPI - Lysinuric protein intolerance GeneReviews lpi
typically experienced after ingesting protein. db key
html:p People with lysinuric protein intolerance have features associated with protein MeSH D020157
intolerance, including an enlarged liver and spleen (hepatosplenomegaly), short db key
stature, muscle weakness, impaired immune function, and progressively brittle OMIM 222700
bones that are prone to fracture (osteoporosis). A lung disorder called db key
pulmonary alveolar proteinosis may also develop. This disorder is characterized Orphanet 470
by protein deposits in the lungs, which interfere with lung function and can be db key
life-threatening. An accumulation of amino acids in the kidneys can cause SNOMED CT 303852004
end-stage renal disease (ESRD) in which the kidneys become unable to filter db key
fluids and waste products from the body effectively. A lack of certain amino SNOMED CT 50056009
acids can cause elevated levels of ammonia in the blood. If ammonia levels are db key
too high for too long, they can cause coma and intellectual disability. SNOMED CT 71751002
html:p The signs and symptoms of lysinuric protein intolerance typically appear after
infants are weaned and receive greater amounts of protein from solid foods.
related-gene-list
Lysosomal acid lipase deficiency https://ghr.nlm.nih.gov/condition/lysosomal-acid-lipase-deficiency Lysosomal acid lipase deficiency is estimated to occur in 1 in 40,000 to html:p Lysosomal acid lipase deficiency is an inherited condition characterized by ar autosomal recessive LIPA https://ghr.nlm.nih.gov/gene/LIPA acid esterase deficiency db key 2017-02 2017-12-29
溶酶體酸性脂肪酶缺乏症 300,000 individuals, varying by population. The later-onset form is more common problems with the breakdown and use of fats and cholesterol in the body (lipid acid lipase deficiency GTR C0043208
than the early-onset form. metabolism). In affected individuals, harmful amounts of fats (lipids) familial visceral xanthomatosis db key
accumulate in cells and tissues throughout the body, which typically causes familial xanthomatosis GeneReviews lal-def
liver disease. There are two forms of the condition. The most severe and rarest LAL deficiency db key
form begins in infancy. The less severe form can begin from childhood to late LIPA deficiency MeSH D015223
adulthood. primary familial xanthomatosis db key
html:p In the severe, early-onset form of lysosomal acid lipase deficiency, lipids primary familial xanthomatosis with adrenal calcification OMIM 278000
accumulate throughout the body, particularly in the liver, within the first db key
weeks of life. This accumulation of lipids leads to several health problems, Orphanet 275761
including an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, a db key
yellow tint to the skin and the whites of the eyes (jaundice), vomiting, Orphanet 75233
diarrhea, fatty stool (steatorrhea), and poor absorption of nutrients from food db key
(malabsorption). In addition, affected infants often have calcium deposits in Orphanet 75234
small hormone-producing glands on top of each kidney (adrenal glands), low db key
amounts of iron in the blood (anemia), and developmental delay. Scar tissue SNOMED CT 715923003
quickly builds up in the liver, leading to liver disease (cirrhosis). Infants
with this form of lysosomal acid lipase deficiency develop multi-organ failure
and severe malnutrition and generally do not survive past 1 year.
html:p In the later-onset form of lysosomal acid lipase deficiency, signs and symptoms
vary and usually begin in mid-childhood, although they can appear anytime up to
late adulthood. Nearly all affected individuals develop an enlarged liver
(hepatomegaly); an enlarged spleen (splenomegaly) may also occur. About
two-thirds of individuals have liver fibrosis, eventually leading to cirrhosis.
Approximately one-third of individuals with the later-onset form have
malabsorption, diarrhea, vomiting, and steatorrhea. Individuals with this form
of lysosomal acid lipase deficiency may have increased liver enzymes and high
cholesterol levels, which can be detected with blood tests.
html:p Some people with this later-onset form of lysosomal acid lipase deficiency
develop an accumulation of fatty deposits on the artery walls (atherosclerosis).
Although these deposits are common in the general population, they usually
begin at an earlier age in people with lysosomal acid lipase deficiency. The
deposits narrow the arteries, increasing the chance of heart attack or stroke.
The expected lifespan of individuals with later-onset lysosomal acid lipase
deficiency depends on the severity of the associated health problems.
html:p The two forms of lysosomal acid lipase deficiency were once thought to be
Infantile Form Lysosomal Acid Lipase Deficiency (Wolman Disease) separate disorders. The early-onset form was known as Wolman disease, and the
嬰兒型溶酶體酸性脂肪酶缺乏症 (又稱伍爾曼氏症) later-onset form was known as cholesteryl ester storage disease. Although these
cholesteryl ester storage disease two disorders have the same genetic cause and are now considered to be forms of
後發溶酶體酸性脂肪酶缺乏症 (又稱伍爾曼氏症) a single condition, these names are still sometimes used to distinguish between
the forms of lysosomal acid lipase deficiency.
related-gene-list
Mabry syndrome https://ghr.nlm.nih.gov/condition/mabry-syndrome Mabry syndrome is likely a rare condition, but its prevalence is unknown. html:p Mabry syndrome is a condition characterized by intellectual disability, ar autosomal recessive PGAP2 https://ghr.nlm.nih.gov/gene/PGAP2 hyperphosphatasia with mental retardation syndrome db key 2013-08 2017-12-29
More than 20 cases have been described in the scientific literature. distinctive facial features, increased levels of an enzyme called alkaline related-gene gene-symbol ghr-page hyperphosphatasia with seizures and neurologic deficit GTR C1855923
phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. PIGO https://ghr.nlm.nih.gov/gene/PIGO db key
html:p People with Mabry syndrome have intellectual disability that is often moderate related-gene gene-symbol ghr-page GTR C3280153
to severe. They typically have little to no speech development and are delayed PIGV https://ghr.nlm.nih.gov/gene/PIGV db key
in the development of motor skills (such as sitting, crawling, and walking). GTR C3553637
Many affected individuals have low muscle tone (hypotonia) and develop recurrent db key
seizures (epilepsy) in early childhood. Seizures are usually the generalized GTR CN168513
tonic-clonic type, which involve muscle rigidity, convulsions, and loss of db key
consciousness. MeSH D054559
html:p Individuals with Mabry syndrome have distinctive facial features that include db key
wide-set eyes (hypertelorism), long openings of the eyelids (long palpebral OMIM 239300
fissures), a nose with a broad bridge and a rounded tip, downturned corners of db key
the mouth, and a thin upper lip. These facial features usually become less OMIM 614207
pronounced over time. db key
html:p Hyperphosphatasia begins within the first year of life in people with Mabry OMIM 614749
syndrome. There are many different types of alkaline phosphatase found in db key
tissues; the type that is increased in Mabry syndrome is called the tissue Orphanet 247262
non-specific type and is found throughout the body. In affected individuals, db key
alkaline phosphatase levels in the blood are usually increased by one to two SNOMED CT 33982008
times the normal amount, but can be up to 20 times higher than normal. The
elevated enzyme levels remain relatively stable over a person's lifetime.
Hyperphosphatasia appears to cause no negative health effects, but this finding
can help health professionals diagnose Mabry syndrome.
html:p Another common feature of Mabry syndrome is shortened bones at the ends of
fingers (brachytelephalangy), which can be seen on x-ray imaging. Underdeveloped
fingernails (nail hypoplasia) may also occur. Sometimes, individuals with Mabry
syndrome have abnormalities of the digestive system, including narrowing or
blockage of the anus (anal stenosis or anal atresia) or Hirschsprung disease, a
disorder that causes severe constipation or blockage of the intestine. Rarely,
affected individuals experience hearing loss.
html:p The signs and symptoms of Mabry syndrome vary among affected individuals. Those
who are least severely affected have only intellectual disability and
hyperphosphatasia, without distinctive facial features or the other health
problems listed above.
related-gene-list
Macrozoospermia https://ghr.nlm.nih.gov/condition/macrozoospermia Macrozoospermia is estimated to affect 1 in 10,000 males in North Africa. html:p Macrozoospermia is a condition that affects only males. It is characterized by ar autosomal recessive AURKC https://ghr.nlm.nih.gov/gene/AURKC infertility associated with multi-tailed spermatozoa and excessive DNA db key 2015-01 2017-12-29
大头精子畸形 The prevalence of the condition outside this region is unknown. abnormal sperm and leads to an inability to father biological children large-headed multiflagellar polyploid spermatozoa GTR C0403812
(infertility). spermatogenic failure 5 db key
html:p In affected males, almost all sperm cells have abnormally large and misshapen MeSH D000072660
heads. The head of the sperm cell contains the male's genetic information that db key
is to be passed on to the next generation. Normally, the head of a sperm cell OMIM 243060
contains one copy of each chromosome. In men with macrozoospermia, the sperm db key
cell head contains extra chromosomes, usually four copies of each instead of the SNOMED CT 236817003
usual one. This additional genetic material accounts for the larger head size
of the sperm cell. Additionally, instead of having one tail (flagellum) per
sperm cell, affected sperm have multiple flagella, most often four.
html:p Because of the additional genetic material, if one of these abnormal sperm cells
combines with an egg cell, the embryo will not develop or the pregnancy will
result in miscarriage.
related-gene-list
Maffucci syndrome https://ghr.nlm.nih.gov/condition/maffucci-syndrome Maffucci syndrome is very rare. Since it was first described in 1881, fewer html:p Maffucci syndrome is a disorder that primarily affects the bones and skin. It is n not inherited IDH1 https://ghr.nlm.nih.gov/gene/IDH1 chondrodysplasia with hemangioma db key 2016-02 2017-12-29
Maffucci綜合徵 than 200 cases have been reported worldwide. characterized by multiple enchondromas, which are noncancerous (benign) growths related-gene gene-symbol ghr-page chondroplasia angiomatosis GTR C0024454
of cartilage that develop within the bones. These growths most commonly occur IDH2 https://ghr.nlm.nih.gov/gene/IDH2 dyschondroplasia and cavernous hemangioma db key
in the limb bones, especially in the bones of the hands and feet; however, they enchondromatosis with hemangiomata MeSH D004687
may also occur in the skull, ribs, and bones of the spine (vertebrae). hemangiomata with dyschondroplasia db key
Enchondromas may result in severe bone deformities, shortening of the limbs, and hemangiomatosis chondrodystrophica OMIM 614569
fractures. Kast syndrome db key
html:p The signs and symptoms of Maffucci syndrome may be detectable at birth, although multiple angiomas and endochondromas Orphanet 163634
they generally do not become apparent until around the age of 5. Enchondromas db key
develop near the ends of bones, where normal growth occurs, and they frequently SNOMED CT 46041001
stop forming after affected individuals stop growing in early adulthood. As a
result of the bone deformities associated with Maffucci syndrome, people with
this disorder generally have short stature and underdeveloped muscles.
html:p Maffucci syndrome is distinguished from a similar disorder that involves
enchondromas (Ollier disease) by the presence of red or purplish growths in the
skin consisting of tangles of abnormal blood vessels (hemangiomas). In addition
to hemangiomas, individuals with Maffucci syndrome occasionally also have
lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid
(lymphatic vessels). These growths may appear anywhere on the body.
html:p Although the enchondromas associated with Maffucci syndrome start out as benign,
they may become cancerous (malignant). In particular, affected individuals may
develop bone cancers called chondrosarcomas, especially in the skull. People
with Maffucci syndrome also have an increased risk of other cancers, such as
ovarian or liver cancer.
html:p People with Maffucci syndrome usually have a normal lifespan, and intelligence
is unaffected. The extent of their physical impairment depends on their
individual skeletal deformities, but in most cases they have no major
limitations in their activities.
related-gene-list
Mainzer-Saldino syndrome https://ghr.nlm.nih.gov/condition/mainzer-saldino-syndrome Mainzer-Saldino syndrome is a rare disorder; its prevalence is unknown. At html:p Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye ar autosomal recessive IFT140 https://ghr.nlm.nih.gov/gene/IFT140 conorenal dysplasia db key 2013-05 2017-12-29
least 20 cases have been reported. problems, and skeletal abnormalities. conorenal syndrome GTR C1849437
html:p People with Mainzer-Saldino syndrome have chronic kidney disease that begins in Mainzer-Saldino chondrodysplasia db key
childhood and gets worse over time. The rate at which the kidney disease worsens Mainzer-Saldino disease MeSH D052177
is variable, but the condition eventually leads to kidney failure in most MZSDS db key
affected individuals. renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal OMIM 266920
html:p Degeneration of the light-sensitive tissue at the back of the eye (the retina) dysplasia db key
almost always occurs in this disorder, but the age at which this feature Saldino-Mainzer dysplasia Orphanet 140969
develops varies. Some affected individuals are blind or have severe vision Saldino-Mainzer syndrome db key
impairment beginning in infancy, with the pattern of vision loss resembling a short-rib thoracic dysplasia 9 SNOMED CT 254092004
condition called Leber congenital amaurosis. In other people with SRTD9
Mainzer-Saldino syndrome, the retinal degeneration begins in childhood, but some
vision is retained into early adulthood. The vision loss in these affected
individuals resembles a category of retinal disorders called rod-cone
dystrophies. The most common rod-cone dystrophy is called retinitis pigmentosa,
and the vision problems in Mainzer-Saldino syndrome are sometimes referred to as
such. However, the abnormal deposits of pigment in the retina from which
retinitis pigmentosa gets its name are often not found in Mainzer-Saldino
syndrome. As a result, some researchers use terms such as "atypical retinitis
pigmentosa without pigment" to describe the retinal degeneration that occurs in
Mainzer-Saldino syndrome.
html:p The skeletal abnormality most characteristic of Mainzer-Saldino syndrome
consists of cone-shaped ends of the bones (epiphyses) in the fingers (phalanges)
that can be seen on x-ray images after the first year of life. Affected
individuals may also have abnormalities of the thigh bones that occur in the
epiphyses and adjacent areas where bone growth occurs (the metaphyses).
Occasionally, other skeletal abnormalities occur, including short stature and
premature fusion of certain skull bones (craniosynostosis) that affects the
shape of the head and face. Affected individuals may also have a small rib cage,
which sometimes causes breathing problems in infancy, but the breathing
problems are usually mild.
html:p A small number of individuals with this disorder have additional problems
affecting other organs. These can include liver disease resulting in a buildup
of scar tissue in the liver (hepatic fibrosis); cerebellar ataxia, which is
difficulty with coordination and balance arising from problems with a part of
the brain called the cerebellum; and mild intellectual disability.
related-gene-list
Majeed syndrome https://ghr.nlm.nih.gov/condition/majeed-syndrome Majeed syndrome appears to be very rare; it has been reported in three html:p Majeed syndrome is a rare condition characterized by recurrent episodes of fever ar autosomal recessive LPIN2 https://ghr.nlm.nih.gov/gene/LPIN2 chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, db key 2009-08 2017-12-29
families, all from the Middle East. and inflammation in the bones and skin. and neutrophilic dermatosis GTR C1864997
html:p One of the major features of Majeed syndrome is an inflammatory bone condition db key
known as chronic recurrent multifocal osteomyelitis (CRMO). This condition GeneReviews majeed
causes recurrent episodes of pain and joint swelling beginning in infancy or db key
early childhood. These symptoms persist into adulthood, although they may MeSH D010019
improve for short periods. CRMO can lead to complications such as slow growth db key
and the development of joint deformities called contractures, which restrict the OMIM 609628
movement of certain joints. db key
html:p Another feature of Majeed syndrome is a blood disorder called congenital Orphanet 77297
dyserythropoietic anemia. This disorder is one of many types of anemia, all of db key
which involve a shortage of red blood cells. Without enough of these cells, the SNOMED CT 703540008
blood cannot carry an adequate supply of oxygen to the body's tissues. The
resulting symptoms can include tiredness (fatigue), weakness, pale skin, and
shortness of breath. Complications of congenital dyserythropoietic anemia can
range from mild to severe.
html:p Most people with Majeed syndrome also develop inflammatory disorders of the
skin, most often a condition known as Sweet syndrome. The symptoms of Sweet
syndrome include fever and the development of painful bumps or blisters on the
face, neck, back, and arms.
related-gene-list
Mal de Meleda https://ghr.nlm.nih.gov/condition/mal-de-meleda Mal de Meleda is a rare disorder; its prevalence is unknown. The disorder html:p Mal de Meleda is a rare skin disorder that begins in early infancy. Affected ar autosomal recessive SLURP1 https://ghr.nlm.nih.gov/gene/SLURP1 acroerythrokeratoderma db key 2014-11 2017-12-29
Meleda disease was first identified on the Croatian island of Mljet (called Meleda in Italian) individuals have a condition known as palmoplantar keratoderma, in which the keratosis palmoplantaris transgrediens of Siemens GTR C0025221
Meleda島病 and has since been found in populations worldwide. skin of the palms of the hands and soles of the feet becomes thick, hard, and Meleda disease (Meleda岛病) db key
callused. In mal de Meleda, the thickened skin is also found on the back of the transgrediens palmoplantar keratoderma of Siemens MeSH D007645
hands and feet and on the wrists and ankles. In addition, affected individuals db key
may have rough, thick pads on the joints of the fingers and toes and on the OMIM 248300
elbows and knees. Some people with mal de Meleda have recurrent fungal db key
infections in the thickened skin, which can lead to a strong odor. Other Orphanet 87503
features of this disorder can include short fingers and toes (brachydactyly), db key
nail abnormalities, red skin around the mouth, and excessive sweating SNOMED CT 239069005
(hyperhidrosis).
related-gene-list
Malignant hyperthermia https://ghr.nlm.nih.gov/condition/malignant-hyperthermia Malignant hyperthermia occurs in 1 in 5,000 to 50,000 instances in which html:p Malignant hyperthermia is a severe reaction to particular drugs that are often ad autosomal dominant CACNA1S https://ghr.nlm.nih.gov/gene/CACNA1S anesthesia related hyperthermia db key 2007-10 2017-12-29
惡性高熱 people are given anesthetic gases. Susceptibility to malignant hyperthermia is used during surgery and other invasive procedures. Specifically, this reaction related-gene gene-symbol ghr-page Hyperpyrexia, Malignant GTR C1835161
致命高熱 probably more frequent, because many people with an increased risk of this occurs in response to some anesthetic gases, which are used to block the CACNA2D1 https://ghr.nlm.nih.gov/gene/CACNA2D1 Hyperthermia, Malignant db key
condition are never exposed to drugs that trigger a reaction. sensation of pain, and with a muscle relaxant that is used to temporarily related-gene gene-symbol ghr-page Malignant Hyperpyrexia GTR C1838102
paralyze a person during a surgical procedure. If given these drugs, people at RYR1 https://ghr.nlm.nih.gov/gene/RYR1 MHS - Malignant hyperthermia db key
risk for malignant hyperthermia may experience muscle rigidity, breakdown of GTR C1866076
muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood db key
and other tissues (acidosis), and a rapid heart rate. Without prompt treatment, GTR C2930982
the complications of malignant hyperthermia can be life-threatening. db key
html:p People at increased risk for this disorder are said to have malignant GTR C2930984
hyperthermia susceptibility. Affected individuals may never know they have the db key
condition unless they undergo testing or have a severe reaction to anesthesia GTR CN031421
during a surgical procedure. While this condition often occurs in people without db key
other serious medical problems, certain inherited muscle diseases (including GeneReviews mhs
central core disease and multiminicore disease) are associated with malignant db key
hyperthermia susceptibility. ICD-10-CM T88.3
db key
MeSH D008305
db key
OMIM 145600
db key
OMIM 154275
db key
OMIM 154276
db key
OMIM 600467
db key
OMIM 601887
db key
OMIM 601888
db key
Orphanet 423
db key
SNOMED CT 213026003
db key
related-gene-list SNOMED CT 405501007
Malignant migrating partial seizures of infancy https://ghr.nlm.nih.gov/condition/malignant-migrating-partial-seizures-of-infanc MMPSI is a rare condition. Although its prevalence is unknown, html:p Malignant migrating partial seizures of infancy (MMPSI) is a severe form of n not inherited KCNT1 https://ghr.nlm.nih.gov/gene/KCNT1 early infantile epileptic encephalopathy 14 db key 2014-03 2017-12-29
y approximately 100 cases have been described in the medical literature. epilepsy that begins very early in life. Recurrent seizures begin before the age related-gene gene-symbol ghr-page EIEE14 GTR C3554195
of 6 months but commonly start within a few weeks of birth. The seizures do not SCN1A https://ghr.nlm.nih.gov/gene/SCN1A malignant migrating partial epilepsy of infancy db key
respond well to treatment. Although affected individuals may develop normally related-gene gene-symbol ghr-page migrating partial epilepsy of infancy MeSH D013036
at first, progression stalls and skills decline when seizures begin; as a TBC1D24 https://ghr.nlm.nih.gov/gene/TBC1D24 migrating partial seizures in infancy db key
result, affected individuals have profound developmental delay. migrating partial seizures of infancy OMIM 614959
html:p The seizures in MMPSI are described as partial (or focal) because the seizure MMPSI db key
activity occurs in regions of the brain rather than affecting the entire brain. Orphanet 293181
Seizure activity can appear in multiple locations in the brain or move (migrate) db key
from one region to another during an episode. Depending on the region affected, SNOMED CT 4.3E+14
seizures can involve sudden redness and warmth (flushing) of the face;
drooling; short pauses in breathing (apnea); movement of the head or eyes to one
side; twitches in the eyelids or tongue; chewing motions; or jerking of an arm,
leg, or both on one side of the body. If seizure activity spreads to affect the
entire brain, it causes a loss of consciousness, muscle stiffening, and
rhythmic jerking (tonic-clonic seizure). Episodes that begin as partial seizures
and spread throughout the brain are known as secondarily generalized seizures.
html:p Initially, the seizures associated with MMPSI are relatively infrequent,
occurring every few weeks. Within a few months of the seizures starting, though,
the frequency increases. Affected individuals can have clusters of five to 30
seizures several times a day. Each seizure typically lasts seconds to a couple
of minutes, but they can be prolonged (classified as status epilepticus). In
some cases, the seizure activity may be almost continuous for several days.
After a year or more of persistent seizures, the episodes become less frequent.
html:p Seizures can affect growth of the brain and lead to a small head size
(microcephaly). The problems with brain development can also cause profound
developmental delay and intellectual impairment. Affected babies often lose the
mental and motor skills they developed after birth, such as the ability to make
eye contact and control their head movement. Many have weak muscle tone
(hypotonia) and become "floppy." If seizures can be controlled for a short
period, development may improve. Some affected children learn to reach for
objects or walk. However, most children with this condition do not develop
language skills.
html:p Because of the serious health problems caused by MMPSI, many affected
individuals do not survive past infancy or early childhood.
related-gene-list
Malonyl-CoA decarboxylase deficiency https://ghr.nlm.nih.gov/condition/malonyl-coa-decarboxylase-deficiency This condition is very rare; fewer than 30 cases have been reported. html:p Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from ar autosomal recessive MLYCD https://ghr.nlm.nih.gov/gene/MLYCD deficiency of malonyl-CoA decarboxylase db key 2010-01 2017-12-29
(Metabolic) converting certain fats to energy. The signs and symptoms of this disorder malonic aciduria GTR C0342793
typically appear in early childhood. Almost all affected children have delayed malonyl-coenzyme A decarboxylase deficiency db key
development. Additional signs and symptoms can include weak muscle tone MCD deficiency MeSH D008661
(hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A db key
heart condition called cardiomyopathy, which weakens and enlarges the heart OMIM 248360
muscle, is another common feature of malonyl-CoA decarboxylase deficiency. db key
Orphanet 943
db key
related-gene-list SNOMED CT 124594007
Mandibuloacral dysplasia https://ghr.nlm.nih.gov/condition/mandibuloacral-dysplasia Mandibuloacral dysplasia is a rare condition; its prevalence is unknown. html:p Mandibuloacral dysplasia is a condition that causes a variety of abnormalities ar autosomal recessive LMNA https://ghr.nlm.nih.gov/gene/LMNA mandibuloacral dysostosis db key 2013-08 2017-12-29
颅骨下颌骨皮肤发育不全 involving bone development, skin coloring (pigmentation), and fat distribution. related-gene gene-symbol ghr-page GTR C0432291
People with this condition may grow slowly after birth. Most affected ZMPSTE24 https://ghr.nlm.nih.gov/gene/ZMPSTE24 db key
individuals are born with an underdeveloped lower jaw bone (mandible) and small GTR C1837756
collar bones (clavicles), leading to the characteristic features of a small chin db key
and sloped shoulders. Other bone problems include loss of bone from the tips of MeSH D008060
the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure db key
of certain skull bones; and joint deformities (contractures). OMIM 248370
html:p People with mandibuloacral dysplasia can have mottled or patchy skin db key
pigmentation or other skin abnormalities. Some people with this condition have OMIM 608612
features of premature aging (a condition called progeria), such as thin skin, db key
loss of teeth, loss of hair, and a beaked nose. Some individuals with Orphanet 2457
mandibuloacral dysplasia have metabolic problems, such as diabetes. db key
html:p A common feature of mandibuloacral dysplasia is a lack of fatty tissue under the SNOMED CT 109419009
skin (lipodystrophy) in certain regions of the body. The two types of this
disorder, mandibuloacral dysplasia with type A lipodystrophy (MADA) and
mandibuloacral dysplasia with type B lipodystrophy (MADB) are distinguished by
the pattern of fat distribution throughout the body. Type A is described as
partial lipodystrophy; affected individuals have a loss of fatty tissue from the
torso and limbs, but it may build up around the neck and shoulders. Type B is a
generalized lipodystrophy, with loss of fatty tissue in the face, torso, and
limbs.
html:p MADA usually begins in adulthood, although children can be affected. MADB begins
earlier, often just after birth. Many babies with MADB are born prematurely.
related-gene-list
Mandibulofacial dysostosis with microcephaly https://ghr.nlm.nih.gov/condition/mandibulofacial-dysostosis-with-microcephaly MFDM is a rare disorder; its exact prevalence is unknown. More than 60 html:p Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes ad autosomal dominant EFTUD2 https://ghr.nlm.nih.gov/gene/EFTUD2 mandibulofacial dysostosis, Guion-Almeida type db key 2014-09 2017-12-29
affected individuals have been described in the medical literature. abnormalities of the head and face. People with this disorder often have an MFDGA GTR C1864652
unusually small head at birth, and the head does not grow at the same rate as MFDM db key
the rest of the body, so it appears that the head is getting smaller as the body GeneReviews mf-dys-mic
grows (progressive microcephaly). Affected individuals have developmental delay db key
and intellectual disability that can range from mild to severe. Speech and ICD-10-CM Q75.4
language problems are also common in this disorder. db key
html:p Facial abnormalities that occur in MFDM include underdevelopment of the middle MeSH D008342
of the face and the cheekbones (midface and malar hypoplasia) and an unusually db key
small lower jaw (mandibular hypoplasia, also called micrognathia). The external OMIM 610536
ears are small and abnormally shaped, and they may have skin growths in front of db key
them called preauricular tags. There may also be abnormalities of the ear Orphanet 79113
canal, the tiny bones in the ears (ossicles), or a part of the inner ear called db key
the semicircular canals. These ear abnormalities lead to hearing loss in most SNOMED CT 711543008
affected individuals. Some people with MFDM have an opening in the roof of the
mouth (cleft palate), which may also contribute to hearing loss by increasing
the risk of ear infections. Affected individuals can also have a blockage of the
nasal passages (choanal atresia) that can cause respiratory problems.
html:p Heart problems, abnormalities of the thumbs, and short stature are other
features that can occur in MFDM. Some people with this disorder also have
blockage of the esophagus (esophageal atresia). In esophageal atresia, the upper
esophagus does not connect to the lower esophagus and stomach. Most babies born
with esophageal atresia (EA) also have a tracheoesophageal fistula (TEF), in
which the esophagus and the trachea are abnormally connected, allowing fluids
from the esophagus to get into the airways and interfere with breathing.
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening
condition; without treatment, it prevents normal feeding and can cause lung
damage from repeated exposure to esophageal fluids.
related-gene-list
Manitoba oculotrichoanal syndrome https://ghr.nlm.nih.gov/condition/manitoba-oculotrichoanal-syndrome Manitoba oculotrichoanal syndrome is estimated to occur in 2 to 6 in 1,000 html:p Manitoba oculotrichoanal syndrome is a condition involving several ar autosomal recessive FREM1 https://ghr.nlm.nih.gov/gene/FREM1 Marles-Greenberg-Persaud syndrome db key 2011-05 2017-12-29
曼尼托巴省Oculotrichoanal综合症 people in a small isolated Ojibway-Cree community in northern Manitoba, Canada. characteristic physical features, particularly affecting the eyes (oculo-), hair Marles Greenberg Persaud syndrome GTR C1855425
Although this region has the highest incidence of the condition, it has also (tricho-), and anus (-anal). Marles syndrome db key
been diagnosed in a few people from other parts of the world. html:p People with Manitoba oculotrichoanal syndrome have widely spaced eyes MOTA GeneReviews mota
(hypertelorism). They may also have other eye abnormalities including small eyes db key
(microphthalmia), a notched or partially absent upper eyelid (upper eyelid MeSH D000015
coloboma), eyelids that are attached to the front surface of the eye db key
(corneopalpebral synechiae), or eyes that are completely covered by skin and OMIM 248450
usually malformed (cryptophthalmos). These abnormalities may affect one or both db key
eyes. SNOMED CT 703539006
html:p Individuals with Manitoba oculotrichoanal syndrome usually have abnormalities of
the front hairline, such as hair growth extending from the temple to the eye on
one or both sides of the face. One or both eyebrows may be completely or
partially missing. Most people with this disorder also have a wide nose with a
notched tip; in some cases this notch extends up from the tip so that the nose
appears to be divided into two halves (bifid nose).
html:p About 20 percent of people with Manitoba oculotrichoanal syndrome have defects
in the abdominal wall, such as a soft out-pouching around the belly-button (an
umbilical hernia) or an opening in the wall of the abdomen (an omphalocele) that
allows the abdominal organs to protrude through the navel. Another
characteristic feature of Manitoba oculotrichoanal syndrome is a narrow anus
(anal stenosis) or an anal opening farther forward than usual. Umbilical wall
defects or anal malformations may require surgical correction. Some affected
individuals also have malformations of the kidneys.
html:p The severity of the features of Manitoba oculotrichoanal syndrome may vary even
within the same family. With appropriate treatment, affected individuals
generally have normal growth and development, intelligence, and life expectancy.
related-gene-list
Mannose-binding lectin deficiency https://ghr.nlm.nih.gov/condition/mannose-binding-lectin-deficiency Mannose-binding lectin deficiency is thought to affect approximately 5 to html:p Mannose-binding lectin deficiency is a condition that affects the immune system. u pattern unknown MBL2 https://ghr.nlm.nih.gov/gene/MBL2 mannose-binding lectin protein deficiency db key 2012-03 2017-12-29
(Immune) 10 percent of people worldwide; however, many affected individuals have no signs People with this condition have low levels of an immune system protein called mannose-binding protein deficiency GTR C1835140
or symptoms related to low mannose-binding lectin levels. The condition is more mannose-binding lectin in their blood. These individuals are prone to recurrent MBL deficiency db key
common in certain populations, such as sub-Saharan Africans. infections, including infections of the upper respiratory tract and other body MBL2 deficiency MeSH D007153
systems. People with this condition may also contract more serious infections MBP deficiency db key
such as pneumonia and meningitis. Depending on the type of infection, the OMIM 614372
symptoms caused by the infections vary in frequency and severity. db key
html:p Infants and young children with mannose-binding lectin deficiency seem to be SNOMED CT 703538003
more susceptible to infections, but adults can also develop recurrent
infections. In addition, affected individuals undergoing chemotherapy or taking
drugs that suppress the immune system are especially prone to infections.
related-gene-list
Maple syrup urine disease https://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease Maple syrup urine disease affects an estimated 1 in 185,000 infants html:p Maple syrup urine disease is an inherited disorder in which the body is unable ar autosomal recessive BCKDHA https://ghr.nlm.nih.gov/gene/BCKDHA BCKD deficiency db key 2017-07 2017-12-29
楓糖漿尿症 worldwide. The disorder occurs much more frequently in the Old Order Mennonite to process certain protein building blocks (amino acids) properly. The condition related-gene gene-symbol ghr-page branched-chain alpha-keto acid dehydrogenase deficiency GTR C0024776
population, with an estimated incidence of about 1 in 380 newborns. gets its name from the distinctive sweet odor of affected infants' urine. It is BCKDHB https://ghr.nlm.nih.gov/gene/BCKDHB branched-chain ketoaciduria db key
also characterized by poor feeding, vomiting, lack of energy (lethargy), related-gene gene-symbol ghr-page ketoacidemia GTR C0268568
abnormal movements, and delayed development. If untreated, maple syrup urine DBT https://ghr.nlm.nih.gov/gene/DBT MSUD db key
disease can lead to seizures, coma, and death. related-gene gene-symbol ghr-page GTR C1621920
html:p Maple syrup urine disease is often classified by its pattern of signs and PPM1K https://ghr.nlm.nih.gov/gene/PPM1K db key
symptoms. The most common and severe form of the disease is the classic type, GeneReviews msud
which becomes apparent soon after birth. Variant forms of the disorder become db key
apparent later in infancy or childhood and are typically milder, but they still ICD-10-CM E71.0
lead to delayed development and other health problems if not treated. db key
MeSH D008375
db key
OMIM 248600
db key
OMIM 615135
db key
Orphanet 511
db key
Orphanet 268145
db key
Orphanet 268162
db key
SNOMED CT 27718001
db key
SNOMED CT 31368008
db key
SNOMED CT 405287008
db key
SNOMED CT 405288003
db key
related-gene-list SNOMED CT 54064006
Marfan syndrome https://ghr.nlm.nih.gov/condition/marfan-syndrome The incidence of Marfan syndrome is approximately 1 in 5,000 worldwide. html:p Marfan syndrome is a disorder that affects the connective tissue in many parts ad autosomal dominant FBN1 https://ghr.nlm.nih.gov/gene/FBN1 Marfan's syndrome db key 2012-03 2017-12-29
馬凡氏症候群 of the body. Connective tissue provides strength and flexibility to structures MFS GTR C0024796
such as bones, ligaments, muscles, blood vessels, and heart valves. The signs db key
and symptoms of Marfan syndrome vary widely in severity, timing of onset, and GeneReviews marfan
rate of progression. db key
html:p The two primary features of Marfan syndrome are vision problems caused by a ICD-10-CM Q87.4
dislocated lens (ectopia lentis) in one or both eyes and defects in the large db key
blood vessel that distributes blood from the heart to the rest of the body (the ICD-10-CM Q87.40
aorta). The aorta can weaken and stretch, which may lead to a bulge in the blood db key
vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve ICD-10-CM Q87.41
to leak, which can lead to a sudden tearing of the layers in the aorta wall db key
(aortic dissection). Aortic aneurysm and dissection can be life threatening. ICD-10-CM Q87.42
html:p Many people with Marfan syndrome have additional heart problems including a leak db key
in the valve that connects two of the four chambers of the heart (mitral valve ICD-10-CM Q87.43
prolapse) or the valve that regulates blood flow from the heart into the aorta db key
(aortic valve regurgitation). Leaks in these valves can cause shortness of ICD-10-CM Q87.410
breath, fatigue, and an irregular heartbeat felt as skipped or extra beats db key
(palpitations). ICD-10-CM Q87.418
html:p Individuals with Marfan syndrome are usually tall and slender, have elongated db key
fingers and toes (arachnodactyly), and have an arm span that exceeds their body MeSH D008382
height. Other common features include a long and narrow face, crowded teeth, an db key
abnormal curvature of the spine (scoliosis or kyphosis), and either a sunken OMIM 154700
chest (pectus excavatum) or a protruding chest (pectus carinatum). Some db key
individuals develop an abnormal accumulation of air in the chest cavity that can Orphanet 558
result in the collapse of a lung (spontaneous pneumothorax). A membrane called db key
the dura, which surrounds the brain and spinal cord, can be abnormally enlarged SNOMED CT 19346006
(dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in db key
the back, abdomen, legs, or head. Most individuals with Marfan syndrome have SNOMED CT 234035006
some degree of nearsightedness (myopia). Clouding of the lens (cataract) may db key
occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs SNOMED CT 57201002
more frequently in people with Marfan syndrome than in those without the
condition.
html:p The features of Marfan syndrome can become apparent anytime between infancy and
adulthood. Depending on the onset and severity of signs and symptoms, Marfan can
be fatal early in life; however, the majority of affected individuals survive
into mid- to late adulthood.
related-gene-list
Marinesco-Sjögren syndrome https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome Marinesco-Sjögren syndrome appears to be a rare condition. More than 100 html:p Marinesco-Sjögren syndrome is a condition that has a variety of signs and ar autosomal recessive SIL1 https://ghr.nlm.nih.gov/gene/SIL1 Garland-Moorhouse syndrome db key 2015-02 2017-12-29
cases have been reported worldwide. symptoms affecting many tissues. People with Marinesco-Sjögren syndrome have hereditary oligophrenic cerebello-lental degeneration GTR C0024814
clouding of the lens of the eyes (cataracts) that usually develops soon after Marinesco-Garland syndrome db key
birth or in early childhood. Affected individuals also have muscle weakness MSS GeneReviews mss
(myopathy) and difficulty coordinating movements (ataxia), which may impair db key
their ability to walk. People with Marinesco-Sjögren syndrome may experience MeSH D013132
further decline in muscle function later in life. db key
html:p Most people with Marinesco-Sjögren syndrome have mild to moderate intellectual OMIM 248800
disability. They also have skeletal abnormalities including short stature and a db key
spine that curves to the side (scoliosis). Other features of Marinesco-Sjögren Orphanet 559
syndrome include eyes that do not look in the same direction (strabismus), db key
involuntary eye movements (nystagmus), and impaired speech (dysarthria). SNOMED CT 80734006
html:p Affected individuals may have hypergonadotropic hypogonadism, which affects the
production of hormones that direct sexual development. As a result, puberty is
either delayed or absent.
related-gene-list
Maternally inherited diabetes and deafness https://ghr.nlm.nih.gov/condition/maternally-inherited-diabetes-and-deafness About 1 percent of people with diabetes have MIDD. The condition is most html:p Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is m mitochondrial MT-TE https://ghr.nlm.nih.gov/gene/MT-TE Ballinger-Wallace syndrome db key 2012-10 2017-12-29
母系遗传的糖尿病和耳聋 common in the Japanese population and has been found in populations worldwide. often accompanied by hearing loss, especially of high tones. The diabetes in related-gene gene-symbol ghr-page diabetes mellitus, type II, with deafness GTR C0342289
MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from MT-TK https://ghr.nlm.nih.gov/gene/MT-TK maternally transmitted diabetes-deafness syndrome db key
a shortage of the hormone insulin, which regulates the amount of sugar in the related-gene gene-symbol ghr-page MIDD ICD-10-CM E13.69
blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, MT-TL1 https://ghr.nlm.nih.gov/gene/MT-TL1 mitochondrial inherited diabetes and deafness db key
although the age that they occur varies from childhood to late adulthood. related-mitochondrial-dna name ghr-page NIDDM with deafness MeSH D003920
Typically, hearing loss occurs before diabetes. mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna noninsulin-dependent diabetes mellitus with deafness db key
html:p Some people with MIDD develop an eye disorder called macular retinal dystrophy, OMIM 520000
which is characterized by colored patches in the light-sensitive tissue that db key
lines the back of the eye (the retina). This disorder does not usually cause Orphanet 225
vision problems in people with MIDD. Individuals with MIDD also may experience db key
muscle cramps or weakness, particularly during exercise; heart problems; kidney SNOMED CT 237619009
disease; and constipation. Individuals with MIDD are often shorter than their
peers.
related-gene-list
Mayer-Rokitansky-Küster-Hauser syndrome https://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome MRKH syndrome affects approximately 1 in 4,500 newborn girls. html:p Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in ad autosomal dominant LHX1 https://ghr.nlm.nih.gov/gene/LHX1 congenital absence of the uterus and vagina (CAUV) db key 2017-05 2017-12-29
苗勒管發育不全 females and mainly affects the reproductive system. This condition causes the code memo related-gene gene-symbol ghr-page genital renal ear syndrome (GRES) GTR C1698581
苗勒管發育不全 vagina and uterus to be underdeveloped or absent, although external genitalia u pattern unknown SHOX https://ghr.nlm.nih.gov/gene/SHOX MRKH syndrome db key
are normal. Affected women usually do not have menstrual periods due to the related-gene gene-symbol ghr-page Mullerian agenesis MeSH D058489
absent uterus. Often, the first noticeable sign of MRKH syndrome is that TBX6 https://ghr.nlm.nih.gov/gene/TBX6 Mullerian aplasia db key
menstruation does not begin by age 16 (primary amenorrhea). Women with MRKH Mullerian dysgenesis OMIM 277000
syndrome have a female chromosome pattern (46,XX) and normally functioning Rokitansky Kuster Hauser syndrome db key
ovaries. They also have normal breast and pubic hair development. Although women Rokitansky syndrome OMIM 601076
with this condition are usually unable to carry a pregnancy, they may be able db key
to have children through assisted reproduction. Orphanet 2578
html:p When only reproductive organs are affected, the condition is classified as MRKH db key
syndrome type 1. Some women with MRKH syndrome also have abnormalities in other Orphanet 3109
parts of the body; in these cases, the condition is classified as MRKH syndrome db key
type 2. In this form of the condition, the kidneys may be abnormally formed or Orphanet 247775
positioned, or one kidney may fail to develop (unilateral renal agenesis). db key
Affected individuals commonly develop skeletal abnormalities, particularly of SNOMED CT 253828000
the spinal bones (vertebrae). Females with MRKH syndrome type 2 may also have
hearing loss or heart defects.
related-gene-list
McCune-Albright syndrome https://ghr.nlm.nih.gov/condition/mccune-albright-syndrome McCune-Albright syndrome occurs in between 1 in 100,000 and 1 in 1,000,000 html:p McCune-Albright syndrome is a disorder that affects the bones, skin, and several n not inherited GNAS https://ghr.nlm.nih.gov/gene/GNAS Albright-McCune-Sternberg syndrome db key 2009-01 2017-12-29
McCune Albright氏症候群 (纖維性骨失養症) people worldwide. hormone-producing (endocrine) tissues. Albright-Sternberg syndrome GTR C0242292
McCune Albright氏症候群 html:p People with McCune-Albright syndrome develop areas of abnormal scar-like Albright syndrome db key
纖維性骨失養症 (fibrous) tissue in their bones, a condition called polyostotic fibrous Albright's disease GeneReviews mccune-albright
dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many Albright's disease of bone db key
bones; often they are confined to one side of the body. Replacement of bone with Albright's syndrome ICD-10-CM Q78.1
fibrous tissue may lead to fractures, uneven growth, and deformity. When Albright's syndrome with precocious puberty db key
lesions occur in the bones of the skull and jaw it can result in uneven fibrous dysplasia with pigmentary skin changes and precocious puberty MeSH D005359
(asymmetric) growth of the face. Asymmetry may also occur in the long bones; MAS db key
uneven growth of leg bones may cause limping. Abnormal curvature of the spine osteitis fibrosa disseminata OMIM 174800
(scoliosis) may also occur. Bone lesions may become cancerous, but this happens PFD db key
in fewer than 1 percent of people with McCune-Albright syndrome. POFD Orphanet 562
html:p In addition to bone abnormalities, affected individuals usually have light brown polyostotic fibrous dysplasia db key
patches of skin called café-au-lait spots, which may be present from birth. The SNOMED CT 36517007
irregular borders of the café-au-lait spots in McCune-Albright syndrome are
often compared to a map of the coast of Maine. By contrast, café-au-lait spots
in other disorders have smooth borders, which are compared to the coast of
California. Like the bone lesions, the café-au-lait spots in McCune-Albright
syndrome often appear on only one side of the body.
html:p Girls with McCune-Albright syndrome usually reach puberty early. These girls
usually have menstrual bleeding by age two, many years before secondary sex
characteristics such as breast enlargement and pubic hair are evident. This
early onset of menstruation is believed to be caused by excess estrogen, a
female sex hormone, produced by cysts that develop in one of the ovaries. Less
commonly, boys with McCune-Albright syndrome may also experience early puberty.
html:p Other endocrine problems may also occur in people with McCune-Albright syndrome.
The thyroid gland, a butterfly-shaped organ at the base of the neck, may become
enlarged (a condition called a goiter) or develop masses called nodules. About
50 percent of affected individuals produce excessive amounts of thyroid hormone
(hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight
loss, tremors, sweating, and other symptoms. The pituitary gland (a structure at
the base of the brain that makes several hormones) may produce too much growth
hormone. Excess growth hormone can result in acromegaly, a condition
characterized by large hands and feet, arthritis, and distinctive facial
features that are often described as "coarse." Rarely, affected individuals
develop Cushing's syndrome, an excess of the hormone cortisol produced by the
adrenal glands, which are small glands located on top of each kidney. Cushing's
syndrome causes weight gain in the face and upper body, slowed growth in
children, fragile skin, fatigue, and other health problems.
related-gene-list
McKusick-Kaufman syndrome https://ghr.nlm.nih.gov/condition/mckusick-kaufman-syndrome This condition was first described in the Old Order Amish population, where html:p McKusick-Kaufman syndrome is a condition that affects the development of the ar autosomal recessive MKKS https://ghr.nlm.nih.gov/gene/MKKS HMCS db key 2008-05 2017-12-29
it affects an estimated 1 in 10,000 people. The incidence of McKusick-Kaufman hands and feet, heart, and reproductive system. It is characterized by a Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation GTR C0948368
syndrome in non-Amish populations is unknown. combination of three features: extra fingers and/or toes (polydactyly), heart Kaufman-McKusick syndrome db key
defects, and genital abnormalities. MKS GeneReviews mkks
html:p Most females with McKusick-Kaufman syndrome are born with a genital abnormality db key
called hydrometrocolpos, which is a large accumulation of fluid in the pelvis. MeSH D006330
Hydrometrocolpos results from a blockage of the vagina before birth, which can db key
occur if part of the vagina fails to develop (vaginal agenesis) or if a membrane MeSH D017689
blocks the opening of the vagina. This blockage allows fluid to build up in db key
the vagina and uterus, stretching these organs and leading to a fluid-filled MeSH D052202
mass. Genital abnormalities in males with McKusick-Kaufman syndrome can include db key
placement of the urethral opening on the underside of the penis (hypospadias), OMIM 236700
a downward-curving penis (chordee), and undescended testes (cryptorchidism). db key
html:p The signs and symptoms of McKusick-Kaufman syndrome overlap significantly with Orphanet 2473
those of another genetic disorder, Bardet-Biedl syndrome. Bardet-Biedl syndrome db key
has several features that are not seen in McKusick-Kaufman syndrome, however. SNOMED CT 702407009
These include vision loss, delayed development, obesity, and kidney (renal)
failure. Because some of these features are not apparent at birth, the two
conditions can be difficult to tell apart in infancy and early childhood.
related-gene-list
McLeod neuroacanthocytosis syndrome https://ghr.nlm.nih.gov/condition/mcleod-neuroacanthocytosis-syndrome McLeod neuroacanthocytosis syndrome is rare; approximately 150 cases have html:p McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that xr X-linked recessive XK https://ghr.nlm.nih.gov/gene/XK McLeod syndrome db key 2015-04 2017-12-29
McLeod症候群 been reported worldwide. occurs almost exclusively in boys and men. This disorder affects movement in GTR C0398568
McLeod神經棘細胞增多症 many parts of the body. People with McLeod neuroacanthocytosis syndrome also db key
have abnormal star-shaped red blood cells (acanthocytosis). This condition is GeneReviews mcleod
one of a group of disorders called neuroacanthocytoses that involve neurological db key
problems and abnormal red blood cells. MeSH D054546
html:p McLeod neuroacanthocytosis syndrome affects the brain and spinal cord (central db key
nervous system). Affected individuals have involuntary movements, including OMIM 314850
jerking motions (chorea), particularly of the arms and legs, and muscle tensing db key
(dystonia) in the face and throat, which can cause grimacing and vocal tics Orphanet 59306
(such as grunting and clicking noises). Dystonia of the tongue can lead to db key
swallowing difficulties. Seizures occur in approximately half of all people with SNOMED CT 234411007
McLeod neuroacanthocytosis syndrome. Individuals with this condition may
develop difficulty processing, learning, and remembering information (cognitive
impairment). They may also develop psychiatric disorders, such as depression,
bipolar disorder, psychosis, or obsessive-compulsive disorder.
html:p People with McLeod neuroacanthocytosis syndrome also have problems with their
muscles, including muscle weakness (myopathy) and muscle degeneration (atrophy).
Sometimes, nerves that connect to muscles atrophy (neurogenic atrophy), leading
to loss of muscle mass and impaired movement. Individuals with McLeod
neuroacanthocytosis syndrome may also have reduced sensation and weakness in
their arms and legs (peripheral neuropathy). Life-threatening heart problems
such as irregular heartbeats (arrhythmia) and a weakened and enlarged heart
(dilated cardiomyopathy) are common in individuals with this disorder.
html:p The signs and symptoms of McLeod neuroacanthocytosis syndrome usually begin in
mid-adulthood. Behavioral changes, such as lack of self-restraint, the inability
to take care of oneself, anxiety, depression, and changes in personality may be
the first signs of this condition. While these behavioral changes are
typically not progressive, the movement and muscle problems and intellectual
impairments tend to worsen with age.
related-gene-list
MDA5 deficiency https://ghr.nlm.nih.gov/condition/mda5-deficiency MDA5 deficiency is likely a rare disorder. Its prevalence is unknown. html:p MDA5 deficiency is a disorder of the immune system (immunodeficiency) that leads ad autosomal dominant IFIH1 https://ghr.nlm.nih.gov/gene/IFIH1 IFIH1 deficiency db key 2017-11 2017-12-29
to recurrent, severe infections of the lungs and airways (respiratory tract) code memo MeSH D007153
beginning in infancy. These infections are most frequently caused by rhinovirus ar autosomal recessive
(the virus that causes the common cold). Respiratory syncytial virus (RSV) and
the influenza (flu) virus may also cause recurrent infections in affected
individuals. While infection by these viruses is common in all children, it
usually causes mild symptoms and lasts only a short time before being cleared by
a healthy immune system. In contrast, individuals with MDA5 deficiency
frequently require hospitalization due to the severity of the symptoms caused by
the infection. Repeated infections can contribute to chronic lung disease.
html:p Infections usually become less frequent with age in people with MDA5 deficiency,
as the body's immune system matures and develops other mechanisms for fighting
viruses.
related-gene-list
Meckel syndrome https://ghr.nlm.nih.gov/condition/meckel-syndrome Meckel syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide. It is html:p Meckel syndrome is a disorder with severe signs and symptoms that affect many ar autosomal recessive B9D1 https://ghr.nlm.nih.gov/gene/B9D1 dysencephalia splanchnocystica db key 2012-05 2017-12-29
Meckel-Gruber syndrome more common in certain populations; for example, the condition affects about 1 parts of the body. The most common features are enlarged kidneys with numerous related-gene gene-symbol ghr-page Meckel-Gruber syndrome GTR C1846357
Meckel-Gruber綜合症狀 in 9,000 people of Finnish ancestry and about 1 in 3,000 people of Belgian fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion B9D2 https://ghr.nlm.nih.gov/gene/B9D2 MKS db key
ancestry. of the brain through an opening at the back of the skull; and the presence of related-gene gene-symbol ghr-page GTR C1864148
extra fingers and toes (polydactyly). Most affected individuals also have a CC2D2A https://ghr.nlm.nih.gov/gene/CC2D2A db key
buildup of scar tissue (fibrosis) in the liver. related-gene gene-symbol ghr-page GTR C1969052
html:p Other signs and symptoms of Meckel syndrome vary widely among affected CEP290 https://ghr.nlm.nih.gov/gene/CEP290 db key
individuals. Numerous abnormalities of the brain and spinal cord (central related-gene gene-symbol ghr-page GTR C1970161
nervous system) have been reported in people with Meckel syndrome, including a MKS1 https://ghr.nlm.nih.gov/gene/MKS1 db key
group of birth defects known as neural tube defects. These defects occur when a related-gene gene-symbol ghr-page GTR C2673885
structure called the neural tube, a layer of cells that ultimately develops into RPGRIP1L https://ghr.nlm.nih.gov/gene/RPGRIP1L db key
the brain and spinal cord, fails to close completely during the first few weeks related-gene gene-symbol ghr-page GTR C2676790
of embryonic development. Meckel syndrome can also cause problems with TMEM67 https://ghr.nlm.nih.gov/gene/TMEM67 db key
development of the eyes and other facial features, heart, bones, urinary system, related-gene gene-symbol ghr-page GTR C3280036
and genitalia. TMEM216 https://ghr.nlm.nih.gov/gene/TMEM216 db key
html:p Because of their serious health problems, most individuals with Meckel syndrome GTR C3280155
die before or shortly after birth. Most often, affected infants die of db key
respiratory problems or kidney failure. GTR C3714506
db key
GTR C3836857
db key
MeSH D000015
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OMIM 249000
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OMIM 267010
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OMIM 603194
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OMIM 607361
db key
OMIM 611134
db key
OMIM 611561
db key
OMIM 612284
db key
OMIM 613885
db key
OMIM 614175
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OMIM 614209
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Orphanet 564
db key
inheritance-pattern-list SNOMED CT 29076005
MECP2 duplication syndrome https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome The prevalence of MECP2 duplication syndrome is unknown; more than 200 html:p MECP2 duplication syndrome is a condition that occurs almost exclusively in males x X-linked gene-symbol synonym Lubs X-linked mental retardation syndrome db-key db key 2017-03 2017-12-29
MECP2綜合症候群 affected individuals have been described in the scientific literature. It is MECP2 MECP2 synonym trisomy Xq28 GTR C1846058
Methyl-CpG-binding Protein 2 Duplication Syndrome estimated that this condition is responsible for 1 to 2 percent of all cases of db-key db key
intellectual disability caused by changes in the X chromosome. duplication syndrome have delayed development of motor skills such as sitting GeneReviews mecp2-dup
and walking. About half of individuals have seizures, often of the tonic-clonic db-key db key
type. This type of seizure involves a loss of consciousness, muscle rigidity, MeSH D038901
and convulsions and may not respond to medication. Some affected individuals db-key db key
experience the loss of previously acquired skills (developmental regression). OMIM 300260
Approximately half of individuals learn to walk, and about one-third of people db-key db key
html:i duplication syndrome have recurrent respiratory tract infections. These Orphanet 1762
MECP2 respiratory infections are a major cause of death in affected individuals, with db-key db key
only half surviving past age 25. SNOMED CT 702816000
inheritance-pattern-list
MECP2-related severe neonatal encephalopathy https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy MECP2-related severe neonatal encephalopathy is likely a rare condition. html:p MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males x X-linked gene-symbol synonym methyl-cytosine phosphate guanine binding protein 2 related severe neonatal db-key db key 2016-02 2017-12-29
Twenty to 30 affected males have been reported in the scientific literature. and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle MECP2 encephalopathy GTR C1968556
tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. synonym severe congenital encephalopathy due to MECP2 mutation db-key db key
Infants with this condition appear normal at birth but then develop severe synonym severe neonatal encephalopathy due to MECP2 mutations GeneReviews rett
encephalopathy within the first week of life. These babies experience poor feeding, leading to a failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MECP2-related severe neonatal encephalopathy have severe to profound intellectual disability. Affected males have breathing problems, with some having episodes in which breathing slows or stops for short periods (apnea). As the child ages, the apnea episodes tend to last longer, especially during sleep, and affected babies often require use of a machine to help regulate their breathing (mechanical ventilation). Most males with MECP2-related severe neonatal encephalopathy do not live past the age of 2 because of respiratory failure. db-key db key
MeSH D001925
-related severe neonatal encephalopathy have severe to profound intellectual db-key db key
disability. Affected males have breathing problems, with some having episodes in Orphanet 209370
which breathing slows or stops for short periods (apnea). As the child ages, db-key db key
the apnea episodes tend to last longer, especially during sleep, and affected SNOMED CT 711487002
babies often require use of a machine to help regulate their breathing
html:i -related severe neonatal encephalopathy do not live past the age of 2 because of
MECP2 respiratory failure.
html:p html:i
MECP2
duplication syndrome, then Rett syndrome (which exclusively affects females),
html:i -related severe neonatal encephalopathy.
MECP2
related-gene-list
Medium-chain acyl-CoA dehydrogenase deficiency, MCAD https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency In the United States, the estimated incidence of MCAD deficiency is 1 in html:p Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that ar autosomal recessive ACADM https://ghr.nlm.nih.gov/gene/ACADM ACADM deficiency db key 2015-02 2017-12-29
中鏈脂肪酸去氫酵素缺乏症 17,000 people. The condition is more common in people of northern European prevents the body from converting certain fats to energy, particularly during MCAD deficiency GTR C0220710
(Metabolic) ancestry than in other ethnic groups. periods without food (fasting). MCADD db key
html:p Signs and symptoms of MCAD deficiency typically appear during infancy or early MCADH deficiency GeneReviews mcad
childhood and can include vomiting, lack of energy (lethargy), and low blood medium chain acyl-CoA dehydrogenase deficiency db key
sugar (hypoglycemia). In rare cases, symptoms of this disorder are not medium-chain acyl-coenzyme A dehydrogenase deficiency ICD-10-CM E71.311
recognized early in life, and the condition is not diagnosed until adulthood. db key
People with MCAD deficiency are at risk of serious complications such as MeSH D008052
seizures, breathing difficulties, liver problems, brain damage, coma, and sudden db key
death. OMIM 201450
html:p Problems related to MCAD deficiency can be triggered by periods of fasting or by db key
illnesses such as viral infections. This disorder is sometimes mistaken for Orphanet 42
Reye syndrome, a severe disorder that may develop in children while they appear db key
to be recovering from viral infections such as chicken pox or flu. Most cases of SNOMED CT 128596003
Reye syndrome are associated with the use of aspirin during these viral
infections.
related-gene-list
Medullary cystic kidney disease type 1 https://ghr.nlm.nih.gov/condition/medullary-cystic-kidney-disease-type-1 MCKD1 is a rare disorder, although its prevalence is unknown. html:p Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that ad autosomal dominant MUC1 https://ghr.nlm.nih.gov/gene/MUC1 autosomal dominant interstitial kidney disease db key 2013-06 2017-12-29
affects the kidneys. It leads to scarring (fibrosis) and impaired function of autosomal dominant medullary cystic kidney disease GTR C1868139
the kidneys, usually beginning in adulthood. The kidneys filter fluid and waste polycystic kidneys, medullary type db key
products from the body. They also reabsorb needed nutrients and release them ICD-10-CM Q61.5
back into the blood. As MCKD1 progresses, the kidneys are less able to function, db key
resulting in kidney failure. MeSH D007674
html:p Declining kidney function in people with MCKD1 leads to the signs and symptoms db key
of the condition. The features are variable, even among members of the same OMIM 174000
family. Many individuals with MCKD1 develop high blood pressure (hypertension), db key
especially as kidney function worsens. Some develop high levels of a waste Orphanet 34149
product called uric acid in the blood (hyperuricemia) because the damaged db key
kidneys are unable to remove uric acid effectively. In a small number of SNOMED CT 444699000
affected individuals, the buildup of this waste product can cause gout, which is
a form of arthritis resulting from uric acid crystals in the joints.
html:p Although the condition is named medullary cystic kidney disease, only about 40
percent of affected individuals have medullary cysts, which are fluid filled
pockets found in a particular region of the kidney. When present, the cysts are
usually found in the inner part of the kidney (the medullary region) or the
border between the inner and outer parts (corticomedullary region). These cysts
are visible by tests such as ultrasound or CT scan.
related-gene-list
Meesmann corneal dystrophy https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy Meesmann corneal dystrophy is a rare disorder whose prevalence is unknown. html:p Meesmann corneal dystrophy is an eye disease that affects the cornea, which is ad autosomal dominant KRT3 https://ghr.nlm.nih.gov/gene/KRT3 corneal dystrophy, juvenile epithelial of Meesmann db key 2012-08 2017-12-29
(Eyes) It was first described in a large, multi-generational German family with more the clear front covering of the eye. This condition is characterized by the related-gene gene-symbol ghr-page corneal dystrophy, Meesmann epithelial GTR C0339277
than 100 affected members. Since then, the condition has been reported in formation of tiny round cysts in the outermost layer of the cornea, called the KRT12 https://ghr.nlm.nih.gov/gene/KRT12 juvenile hereditary epithelial dystrophy db key
individuals and families worldwide. corneal epithelium. This part of the cornea acts as a barrier to help prevent MECD ICD-10-CM H18.52
foreign materials, such as dust and bacteria, from entering the eye. Meesman's corneal dystrophy db key
html:p In people with Meesmann corneal dystrophy, cysts can appear as early as the Meesmann corneal epithelial dystrophy MeSH D053559
first year of life. They usually affect both eyes and increase in number over Meesmann epithelial corneal dystrophy db key
time. The cysts usually do not cause any symptoms until late adolescence or OMIM 122100
adulthood, when they start to break open (rupture) on the surface of the cornea db key
and cause irritation. The resulting symptoms typically include increased Orphanet 98954
sensitivity to light (photophobia), twitching of the eyelids (blepharospasm), db key
increased tear production, the sensation of having a foreign object in the eye, SNOMED CT 1674008
and an inability to tolerate wearing contact lenses. Some affected individuals
also have temporary episodes of blurred vision.
related-gene-list
Megacystis-microcolon-intestinal hypoperistalsis syndrome https://ghr.nlm.nih.gov/condition/megacystis-microcolon-intestinal-hypoperistals MMIHS is a rare disorder. More than 200 cases have been reported in the html:p Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe ad autosomal dominant ACTG2 https://ghr.nlm.nih.gov/gene/ACTG2 Berdon syndrome db key 2017-10 2017-12-29
is-syndrome medical literature. disorder affecting the muscles that line the bladder and intestines. It is code memo related-gene gene-symbol ghr-page megacystis, microcolon, hypoperistalsis syndrome GTR C1835084
characterized by impairment of the muscle contractions that move food through ar autosomal recessive LMOD1 https://ghr.nlm.nih.gov/gene/LMOD1 MMIH syndrome db key
the digestive tract (peristalsis) and empty the bladder. related-gene gene-symbol ghr-page MMIHS GeneReviews actg2-dis
html:p Some of the major features of MMIHS can be recognized before birth using MYH11 https://ghr.nlm.nih.gov/gene/MYH11 db key
ultrasound imaging. Affected fetuses have an enlarged bladder (megacystis) related-gene gene-symbol ghr-page MeSH D005767
because it does not empty. In addition, the large intestine (colon) is MYLK https://ghr.nlm.nih.gov/gene/MYLK db key
abnormally narrow (microcolon) because of a shortage of functional muscle lining OMIM 155310
it. Intestinal and bladder problems persist throughout life. db key
html:p After birth, the continued impairment of peristalsis (hypoperistalsis) often Orphanet 2241
causes a digestive condition called intestinal pseudo-obstruction. This db key
condition, which mimics a physical blockage (obstruction) of the intestines but SNOMED CT 253781004
without an actual blockage, leads to a buildup of partially digested food in the
intestines. This buildup can cause abdominal swelling (distention) and pain,
nausea, and vomiting. The vomit usually contains a green or yellow digestive
fluid called bile. Because digestion is impeded and the body does not get the
nutrients from food, nutritional support is usually needed, which is given
through intravenous feedings (parenteral nutrition). While some affected
individuals rely solely on intravenous feedings, others require it only on
occasion. Long-term use of parenteral nutrition can lead to liver problems.
html:p The reduced ability to pass urine also contributes to painful distention of the
abdomen. Many people with MMIHS require placement of a tube (urinary catheter)
to remove urine from the bladder.
html:p Another abnormality in some people with MMIHS is intestinal malrotation, in
which the intestines do not fold properly. Instead, they twist abnormally, often
causing a blockage. Individuals with MMIHS can also develop problems with the
kidneys or the ureters, which are the ducts that carry urine from the kidneys to
the bladder.
html:p The life expectancy of people with MMIHS is shorter than normal, often due to
malnutrition, overwhelming infection (sepsis), or the failure of multiple
organs.
related-gene-list
Megalencephalic leukoencephalopathy with subcortical cysts https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subco Megalencephalic leukoencephalopathy with subcortical cysts is a rare html:p Megalencephalic leukoencephalopathy with subcortical cysts is a progressive ad autosomal dominant HEPACAM https://ghr.nlm.nih.gov/gene/HEPACAM infantile leukoencephalopathy and megalencephaly db key 2015-03 2017-12-29
巨腦性腦白質病伴有皮層下囊腫 rtical-cysts condition; its exact prevalence is unknown. More than 150 cases have been condition that affects brain development and function. Individuals with this code memo related-gene gene-symbol ghr-page leukoencephalopathy with swelling and a discrepantly mild course GTR C1858854
reported in the scientific literature. condition typically have an enlarged brain (megalencephaly) that is evident at ar autosomal recessive MLC1 https://ghr.nlm.nih.gov/gene/MLC1 leukoencephalopathy with swelling and cysts db key
birth or within the first year of life. Megalencephaly leads to an increase in LVM GTR C3151355
the size of the head (macrocephaly). Affected people also have MLC db key
leukoencephalopathy, an abnormality of the brain's white matter. White matter vacuolating leukoencephalopathy GTR C3151356
consists of nerve fibers covered by a fatty substance called myelin. Myelin vacuolating megalencephalic leukoencephalopathy with subcortical cysts db key
insulates nerve fibers and promotes the rapid transmission of nerve impulses. In van der Knaap disease GTR CN176898
megalencephalic leukoencephalopathy with subcortical cysts, the myelin is db key
swollen and contains numerous fluid-filled pockets (vacuoles). Over time, the GeneReviews mlc
swelling decreases and the myelin begins to waste away (atrophy). Individuals db key
affected with this condition may develop cysts in the brain; because these cysts MeSH D020279
form below an area of the brain called the cerebral cortex, they are called db key
subcortical cysts. These cysts can grow in size and number. OMIM 604004
html:p The brain abnormalities in people with megalencephalic leukoencephalopathy with db key
subcortical cysts affect the use of muscles and lead to movement problems. OMIM 613925
Affected individuals typically experience muscle stiffness (spasticity) and db key
difficulty coordinating movements (ataxia). Walking ability varies greatly among OMIM 613926
those affected. Some people lose the ability to walk early in life and need db key
wheelchair assistance, while others are able to walk unassisted well into Orphanet 2478
adulthood. Minor head trauma can further impair movements and may lead to coma. db key
Affected individuals may also develop uncontrolled muscle tensing (dystonia), SNOMED CT 703536004
involuntary writhing movements of the limbs (athetosis), difficulty swallowing
(dysphagia), and impaired speech (dysarthria). More than half of all people with
this condition have recurrent seizures (epilepsy). Despite the widespread brain
abnormalities, people with this condition typically have only mild to moderate
intellectual disability.
html:p There are three types of megalencephalic leukoencephalopathy with subcortical
cysts, which are distinguished by their signs and symptoms and genetic cause.
Types 1 and 2A have different genetic causes but are nearly identical in signs
and symptoms. Types 2A and 2B have the same genetic cause but the signs and
symptoms of type 2B often begin to improve after one year. After improvement,
individuals with type 2B usually have macrocephaly and may have intellectual
disability.
related-gene-list
Megalencephaly-capillary malformation syndrome https://ghr.nlm.nih.gov/condition/megalencephaly-capillary-malformation-syndrome The prevalence of MCAP is unknown. At least 150 affected individuals have html:p Megalencephaly-capillary malformation syndrome (MCAP) is a disorder n not inherited PIK3CA https://ghr.nlm.nih.gov/gene/PIK3CA M-CM db key 2017-06 2017-12-29
been reported in the medical literature. Because the condition is often thought characterized by overgrowth of several tissues in the body. Its primary features macrocephaly-capillary malformation syndrome GTR C1865285
to be misdiagnosed or underdiagnosed, it may be more common than reported. are a large brain (megalencephaly) and abnormalities of small blood vessels in macrocephaly cutis marmorata telangiectatica congenita db key
the skin called capillaries (capillary malformations). MCAP GeneReviews pik3ca-overgrowth
html:p In individuals with MCAP, megalencephaly leads to an unusually large head size MCMTC db key
(macrocephaly), which is typically evident at birth. After birth, the brain and megalencephaly-capillary malformation-polymicrogyria syndrome MeSH D054079
head continue to grow at a fast rate for the first few years of life; then, the megalencephaly cutis marmorata telangiectatica congenita db key
growth slows to a normal rate, although the head remains larger than average. MeSH D058627
Additional brain abnormalities are common in people with MCAP; these can include db key
excess fluid within the brain (hydrocephalus) and abnormalities in the brain's OMIM 602501
structure, such as those known as Chiari malformation and polymicrogyria. db key
Abnormal brain development leads to intellectual disability in most affected Orphanet 60040
individuals and can also cause seizures or weak muscle tone (hypotonia). In db key
particular, polymicrogyria is associated with speech delays and difficulty SNOMED CT 703370002
chewing and swallowing.
html:p The capillary malformations characteristic of MCAP are composed of enlarged
capillaries that increase blood flow near the surface of the skin. These
malformations usually look like pink or red spots on the skin. In most affected
individuals, capillary malformations occur on the face, particularly the nose,
the upper lip, and the area between the nose and upper lip (the philtrum). In
other people with MCAP, the malformations appear as patches spread over the body
or as a reddish net-like pattern on the skin (cutis marmorata).
html:p In some people with MCAP, excessive growth affects not only the brain but other
individual parts of the body, which is known as segmental overgrowth. This can
lead to one arm or leg that is bigger or longer than the other or a few
oversized fingers or toes. Some affected individuals have fusion of the skin
between two or more fingers or toes (cutaneous syndactyly).
html:p Additional features of MCAP can include flexible joints and skin that stretches
easily. Some affected individuals are said to have doughy skin because the
tissue under the skin is unusually thick and soft.
html:p The gene involved in MCAP is also associated with several types of cancer. Only
a small number of individuals with MCAP have developed tumors (in particular, a
childhood form of kidney cancer known as Wilms tumor and noncancerous tumors in
the nervous system known as meningiomas).
related-gene-list
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome https://ghr.nlm.nih.gov/condition/megalencephaly-polymicrogyria-polydactyly-hydr MPPH syndrome appears to be a rare disease. About 60 affected individuals html:p Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a ad autosomal dominant AKT3 https://ghr.nlm.nih.gov/gene/AKT3 MEG-PMG-POLY-HYD db key 2017-01 2017-12-29
ocephalus-syndrome have been described in the medical literature. rare disorder that primarily affects the development of the brain. Affected related-gene gene-symbol ghr-page megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus syndrome GTR C1863924
individuals are born with an unusually large brain and head size CCND2 https://ghr.nlm.nih.gov/gene/CCND2 MPPH db key
(megalencephaly). The head and brain continue to grow rapidly during the first 2 related-gene gene-symbol ghr-page MPPH syndrome GTR C4014738
years of life. MPPH syndrome is also associated with a brain abnormality called PIK3R2 https://ghr.nlm.nih.gov/gene/PIK3R2 db key
bilateral perisylvian polymicrogyria (BPP). The surface of the brain normally GTR C4014742
has many ridges or folds, called gyri. In people with BPP, an area of the brain db key
called the perisylvian region develops too many gyri, and the folds are GeneReviews mpph
irregular and unusually small. Other brain abnormalities, including a buildup of db key
fluid in the brain (hydrocephalus), have also been reported in people with MPPH MeSH D006849
syndrome. db key
html:p The problems with brain development cause a variety of neurological signs and MeSH D017689
symptoms. People with MPPH syndrome have delayed development and intellectual db key
disability that ranges from mild to severe. About half of affected individuals MeSH D058627
develop recurrent seizures (epilepsy) beginning early in childhood. People with db key
MPPH syndrome also have difficulty coordinating movements of the mouth and MeSH D065706
tongue (known as oromotor dysfunction), which leads to drooling, difficulty db key
swallowing (dysphagia), and a delay in the production of speech (expressive OMIM 603387
language). db key
html:p About half of people with MPPH syndrome have an extra finger or toe on one or OMIM 615937
more of their hands or feet (polydactyly). The polydactyly is described as db key
postaxial because it occurs on the same side of the hand or foot as the pinky OMIM 615938
finger or little toe. db key
html:p The brain abnormalities characteristic of MPPH syndrome are also found in a Orphanet 83473
closely related condition called megalencephaly-capillary malformation syndrome db key
(MCAP). However, MCAP includes abnormalities of small blood vessels in the skin SNOMED CT 722036008
(capillary malformations) and several other features that are not usually part
of MPPH syndrome.
related-gene-list
MEGDEL syndrome https://ghr.nlm.nih.gov/condition/megdel-syndrome MEGDEL syndrome is a rare disorder; its prevalence is unknown. At least 40 html:p MEGDEL syndrome is an inherited disorder that affects multiple body systems. It ar autosomal recessive SERAC1 https://ghr.nlm.nih.gov/gene/SERAC1 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, db key 2014-07 2017-12-29
affected individuals have been mentioned in the medical literature. is named for several of its features: 3-methylglutaconic aciduria (MEG), and Leigh-like syndrome GTR C3553597
deafness (D), encephalopathy (E), and Leigh-like disease (L). 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like db key
html:p MEGDEL syndrome is characterized by abnormally high levels of an acid, called syndrome GeneReviews megdel
3-methylglutaconic acid, in the urine (3-methylglutaconic aciduria). MEGDEL MEGDHEL syndrome db key
syndrome is one of a group of metabolic disorders that can be diagnosed by SERAC1 defect ICD-10-CM E71.111
presence of this feature. People with MEGDEL syndrome also have high urine db key
levels of another acid called 3-methylglutaric acid. MeSH D008052
html:p In infancy, individuals with MEGDEL syndrome develop hearing loss caused by db key
changes in the inner ear (sensorineural deafness); the hearing problems OMIM 614739
gradually worsen over time. db key
html:p Another feature of MEGDEL syndrome is brain dysfunction (encephalopathy). In Orphanet 352328
infancy, encephalopathy leads to difficulty feeding, an inability to grow and db key
gain weight at the expected rate (failure to thrive), and weak muscle tone SNOMED CT 711409002
(hypotonia). Infants with MEGDEL syndrome later develop involuntary muscle
tensing (dystonia) and muscle stiffness (spasticity), which worsen over time.
Because of these brain and muscle problems, affected babies have delayed
development of mental and movement abilities (psychomotor delay), or they may
lose skills they already developed. Individuals with MEGDEL syndrome have
intellectual disability and never learn to speak.
html:p People with MEGDEL syndrome have changes in the brain that resemble those in
another condition called Leigh syndrome. These changes, which can be seen with
medical imaging, are referred to as Leigh-like disease.
html:p Other features that occur commonly in MEGDEL syndrome include low blood sugar
(hypoglycemia) in affected newborns; liver problems (hepatopathy) in infancy,
which can be serious but improve by early childhood; and episodes of abnormally
high amounts of lactic acid in the blood (lactic acidosis).
html:p The life expectancy of individuals with MEGDEL syndrome is unknown. Because of
the severe health problems caused by the disorder, some affected individuals do
not survive past infancy.
related-gene-list
Meier-Gorlin syndrome https://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome Meier-Gorlin syndrome is a rare condition; however, its prevalence is html:p Meier-Gorlin syndrome is a condition primarily characterized by short stature. ar autosomal recessive CDC6 https://ghr.nlm.nih.gov/gene/CDC6 ear, patella, short stature syndrome db key 2014-02 2017-12-29
unknown. It is considered a form of primordial dwarfism because the growth problems begin related-gene gene-symbol ghr-page microtia, absent patellae, micrognathia syndrome GTR C1868684
before birth (intrauterine growth retardation). After birth, affected CDT1 https://ghr.nlm.nih.gov/gene/CDT1 db key
individuals continue to grow at a slow rate. Other characteristic features of related-gene gene-symbol ghr-page GTR C3151097
this condition are underdeveloped or missing kneecaps (patellae), small ears, ORC1 https://ghr.nlm.nih.gov/gene/ORC1 db key
and, often, an abnormally small head (microcephaly). Despite a small head size, related-gene gene-symbol ghr-page GTR C3151113
most people with Meier-Gorlin syndrome have normal intellect. ORC4 https://ghr.nlm.nih.gov/gene/ORC4 db key
html:p Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such related-gene gene-symbol ghr-page GTR C3151120
as unusually narrow long bones in the arms and legs, a deformity of the knee ORC6 https://ghr.nlm.nih.gov/gene/ORC6 db key
joint that allows the knee to bend backwards (genu recurvatum), and slowed GTR C3151126
mineralization of bones (delayed bone age). db key
html:p Most people with Meier-Gorlin syndrome have distinctive facial features. In MeSH D004392
addition to being abnormally small, the ears may be low-set or rotated backward. db key
Additional features can include a small mouth (microstomia), an underdeveloped OMIM 224690
lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge. db key
html:p Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In OMIM 613800
some males with this condition, the testes are small or undescended db key
(cryptorchidism). Affected females may have unusually small external genital OMIM 613803
folds (hypoplasia of the labia majora) and small breasts. Both males and females db key
with this condition can have sparse or absent underarm (axillary) hair. OMIM 613804
html:p Additional features of Meier-Gorlin syndrome can include difficulty feeding and db key
a lung condition known as pulmonary emphysema or other breathing problems. OMIM 613805
db key
Orphanet 2554
db key
synonym-list db-key-list SNOMED CT 703508009
Meige disease https://ghr.nlm.nih.gov/condition/meige-disease The prevalence of Meige disease is unknown. Collectively, the many types of html:p Meige disease is a condition that affects the normal function of the lymphatic ad autosomal dominant synonym late-onset lymphedema key 2017-12-29
梅格斯综合征 primary lymphedema affect an estimated 1 in 100,000 people younger than 20; system. The lymphatic system consists of a network of vessels that transport synonym LMPH2 db-key C1704425
Meige disease is the most common type of primary lymphedema.For unknown reasons, lymphatic fluid and immune cells throughout the body. Meige disease is synonym lymphedema praecox key
this condition affects females about three times as often as males. characterized by the abnormal transport of lymphatic fluid. When this fluid synonym Meige lymphedema db-key Q82.0
builds up abnormally, it causes swelling (lymphedema) in the lower limbs. key
html:p Meige disease is classified as a primary lymphedema, which means it is a form of db-key D008209
lymphedema that is not caused by other health conditions. In Meige disease, the key
lymphatic system abnormalities are present from birth (congenital), although db-key 153200
the swelling is not usually apparent until puberty. The swelling often begins in key
the feet and ankles and progresses up the legs to the knees. Some affected db-key 289825
individuals develop non-contagious skin infections called cellulitis or key
erysipelas in the legs, which can further damage the vessels that carry db-key 90186
lymphatic fluid. key
db-key 400040008
key
Melanoma
黑色素瘤
related-gene-list 77123007
Melnick-Needles syndrome https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome Melnick-Needles syndrome is a rare disorder; fewer than 100 cases have been html:p Melnick-Needles syndrome is a disorder involving abnormalities in skeletal xd X-linked dominant FLNA https://ghr.nlm.nih.gov/gene/FLNA Melnick-Needles osteodysplasty db key 2007-11 2017-12-29
Melnick-Needle症候群 reported worldwide. development and other health problems. It is a member of a group of related MNS GTR C0025237
Melnick-Needle症候群 conditions called otopalatodigital spectrum disorders, which also includes osteodysplasty of Melnick and Needles db key
otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and GeneReviews opd
frontometaphyseal dysplasia. In general, these disorders involve hearing loss db key
caused by malformations in the tiny bones in the ears (ossicles), problems in MeSH D010009
the development of the roof of the mouth (palate), and skeletal abnormalities db key
involving the fingers and/or toes (digits). OMIM 309350
html:p Melnick-Needles syndrome is usually the most severe of the otopalatodigital db key
spectrum disorders. People with this condition are usually of short stature, Orphanet 2484
have an abnormal curvature of the spine (scoliosis), partial dislocation db key
(subluxation) of certain joints, and unusually long fingers and toes. They may SNOMED CT 13449007
have bowed limbs; underdeveloped, irregular ribs that can cause problems with
breathing; and other abnormal or absent bones.
html:p Characteristic facial features may include bulging eyes with prominent brow
ridges, excess hair growth on the forehead, round cheeks, a very small lower jaw
and chin (micrognathia), and misaligned teeth. One side of the face may appear
noticeably different from the other (facial asymmetry). Some individuals with
this disorder have hearing loss.
html:p In addition to skeletal abnormalities, individuals with Melnick-Needles syndrome
may have obstruction of the ducts between the kidneys and bladder (ureters) or
heart defects.
html:p Males with Melnick-Needles syndrome generally have much more severe signs and
symptoms than do females, and in almost all cases die before or soon after
birth.
synonym-list db-key-list
Ménière disease https://ghr.nlm.nih.gov/condition/meniere-disease The prevalence of Ménière disease varies in different geographic regions html:p Ménière disease is a disorder of the inner ear that affects balance and hearing. ad autosomal dominant synonym aural vertigo key 2017-12-29
美尼爾病 and ethnic groups. It appears to be more common in people of European descent This condition is characterized by sudden episodes of extreme dizziness synonym Meniere disease db-key C0025281
梅尼爾氏症 than in those with other backgrounds. In the United States, there are an (vertigo), a roaring sound in the ears (tinnitus), a feeling of pressure or synonym Meniere's disease key
耳水不平衡 estimated 615,000 people with Ménière disease, and more than 45,000 new cases fullness in the ears, and fluctuations in hearing. Episodes are often associated synonym Meniere's syndrome db-key H81.0
are diagnosed each year. with nausea and vomiting, and they can severely disrupt activities of daily synonym Ménière's disease key
living. synonym Ménière's vertigo db-key H81.01
html:p The episodes associated with Ménière disease generally last several hours. synonym otogenic vertigo key
Studies suggest that episodes can be triggered by stress, tiredness (fatigue), synonym primary endolymphatic hydrops db-key H81.02
emotional upset, illness, and dietary factors. The timing of these episodes is key
unpredictable; affected individuals may experience a cluster of episodes within db-key H81.03
a short period, followed by months or years without any symptoms. key
html:p Ménière disease usually appears in adulthood, most often in a person's 40s or db-key H81.09
50s. It is much less common in children and young adults. The symptoms of the key
disorder typically begin in one ear, although they may later involve both ears. db-key D008575
html:p Some people with Ménière disease have no symptoms of the disorder between key
episodes, particularly in the early stages of the disease. Over time, however, db-key 156000
many affected individuals develop ongoing problems with unsteadiness, tinnitus, key
and a feeling of fullness in the ears. Additionally, permanent hearing loss db-key 45360
eventually develops in many people with this disorder. key
related-gene-list 13445001
Menkes syndrome https://ghr.nlm.nih.gov/condition/menkes-syndrome The incidence of Menkes syndrome and occipital horn syndrome is estimated html:p Menkes syndrome is a disorder that affects copper levels in the body. It is xr X-linked recessive ATP7A https://ghr.nlm.nih.gov/gene/ATP7A Copper transport disease db key 2009-03 2017-12-29
Menkes Disease to be 1 in 100,000 newborns. characterized by sparse, kinky hair; failure to gain weight and grow at the Hypocupremia, Congenital GTR C0022716
緬克斯症候群 expected rate (failure to thrive); and deterioration of the nervous system. Kinky Hair Syndrome db key
Additional signs and symptoms include weak muscle tone (hypotonia), sagging Menkea syndrome GeneReviews menkes
facial features, seizures, developmental delay, and intellectual disability. Menkes Disease db key
Children with Menkes syndrome typically begin to develop symptoms during infancy MK MeSH D007706
and often do not live past age 3. Early treatment with copper may improve the MNK db key
prognosis in some affected individuals. In rare cases, symptoms begin later in Steely Hair Syndrome OMIM 304150
childhood. X-linked copper deficiency db key
html:p Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe OMIM 309400
form of Menkes syndrome that begins in early to middle childhood. It is db key
characterized by wedge-shaped calcium deposits in a bone at the base of the Orphanet 565
skull (the occipital bone), coarse hair, and loose skin and joints. db key
related-gene-list SNOMED CT 59178007
Metachromatic leukodystrophy, MLD https://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 html:p Metachromatic leukodystrophy is an inherited disorder characterized by the ar autosomal recessive ARSA https://ghr.nlm.nih.gov/gene/ARSA ARSA deficiency db key 2013-02 2017-12-29
異染性腦白質退化症 individuals worldwide. The condition is more common in certain genetically accumulation of fats called sulfatides in cells. This accumulation especially related-gene gene-symbol ghr-page arylsulfatase A deficiency disease GTR C0023522
isolated populations: 1 in 75 in a small group of Jews who immigrated to Israel affects cells in the nervous system that produce myelin, the substance that PSAP https://ghr.nlm.nih.gov/gene/PSAP cerebral sclerosis, diffuse, metachromatic form db key
from southern Arabia (Habbanites), 1 in 2,500 in the western portion of the insulates and protects nerves. Nerve cells covered by myelin make up a tissue cerebroside sulphatase deficiency disease GTR C0268262
Navajo Nation, and 1 in 8,000 among Arab groups in Israel. called white matter. Sulfatide accumulation in myelin-producing cells causes Greenfield disease db key
progressive destruction of white matter (leukodystrophy) throughout the nervous metachromatic leukoencephalopathy GeneReviews mld
system, including in the brain and spinal cord (the central nervous system) and MLD db key
the nerves connecting the brain and spinal cord to muscles and sensory cells sulfatide lipidosis ICD-10-CM E75.25
that detect sensations such as touch, pain, heat, and sound (the peripheral sulfatidosis db key
nervous system). MeSH D007966
html:p In people with metachromatic leukodystrophy, white matter damage causes db key
progressive deterioration of intellectual functions and motor skills, such as OMIM 249900
the ability to walk. Affected individuals also develop loss of sensation in the db key
extremities (peripheral neuropathy), incontinence, seizures, paralysis, an OMIM 250100
inability to speak, blindness, and hearing loss. Eventually they lose awareness db key
of their surroundings and become unresponsive. While neurological problems are Orphanet 512
the primary feature of metachromatic leukodystrophy, effects of sulfatide db key
accumulation on other organs and tissues have been reported, most often SNOMED CT 238031009
involving the gallbladder. db key
html:p The most common form of metachromatic leukodystrophy, affecting about 50 to 60 SNOMED CT 24326000
percent of all individuals with this disorder, is called the late infantile db key
form. This form of the disorder usually appears in the second year of life. SNOMED CT 396338004
Affected children lose any speech they have developed, become weak, and develop db key
problems with walking (gait disturbance). As the disorder worsens, muscle tone SNOMED CT 40802007
generally first decreases, and then increases to the point of rigidity. db key
Individuals with the late infantile form of metachromatic leukodystrophy SNOMED CT 44359008
typically do not survive past childhood. db key
html:p In 20 to 30 percent of individuals with metachromatic leukodystrophy, onset SNOMED CT 68390005
occurs between the age of 4 and adolescence. In this juvenile form, the first
signs of the disorder may be behavioral problems and increasing difficulty with
schoolwork. Progression of the disorder is slower than in the late infantile
form, and affected individuals may survive for about 20 years after diagnosis.
html:p The adult form of metachromatic leukodystrophy affects approximately 15 to 20
percent of individuals with the disorder. In this form, the first symptoms
appear during the teenage years or later. Often behavioral problems such as
alcoholism, drug abuse, or difficulties at school or work are the first symptoms
to appear. The affected individual may experience psychiatric symptoms such as
delusions or hallucinations. People with the adult form of metachromatic
leukodystrophy may survive for 20 to 30 years after diagnosis. During this time
there may be some periods of relative stability and other periods of more rapid
decline.
html:p Metachromatic leukodystrophy gets its name from the way cells with an
accumulation of sulfatides appear when viewed under a microscope. The sulfatides
form granules that are described as metachromatic, which means they pick up
color differently than surrounding cellular material when stained for
examination.
related-gene-list
Metatropic dysplasia https://ghr.nlm.nih.gov/condition/metatropic-dysplasia Metatropic dysplasia is a rare disease; its exact prevalence is unknown. html:p Metatropic dysplasia is a skeletal disorder characterized by short stature ad autosomal dominant TRPV4 https://ghr.nlm.nih.gov/gene/TRPV4 metatropic dwarfism db key 2012-04 2017-12-29
(Skeletal) More than 80 affected individuals have been reported in the scientific (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived metatropic dysplasia type 1 GTR C0265281
literature. from the Greek word "metatropos," which means "changing patterns." This name db key
reflects the fact that the skeletal abnormalities associated with the condition GeneReviews cmt2c
change over time. db key
html:p Affected infants are born with a narrow chest and unusually short arms and legs MeSH D004392
with dumbbell-shaped long bones. Beginning in early childhood, people with this db key
condition develop abnormal side-to-side and front-to-back curvature of the spine OMIM 156530
(scoliosis and kyphosis, often called kyphoscoliosis when they occur together). db key
The curvature worsens with time and tends to be resistant to treatment. Because Orphanet 2635
of the severe kyphoscoliosis, affected individuals may ultimately have a very db key
short torso in relation to the length of their arms and legs. SNOMED CT 22764001
html:p Some people with metatropic dysplasia are born with an elongated tailbone known
as a coccygeal tail; it is made of a tough but flexible tissue called cartilage.
The coccygeal tail usually shrinks over time. Other skeletal problems
associated with metatropic dysplasia include flattened bones of the spine
(platyspondyly); excessive movement of spinal bones in the neck that can damage
the spinal cord; either a sunken chest (pectus excavatum) or a protruding chest
(pectus carinatum); and joint deformities called contractures that restrict the
movement of joints in the shoulders, elbows, hips, and knees. Beginning early in
life, affected individuals can also develop a degenerative form of arthritis
that causes joint pain and further restricts movement.
html:p The signs and symptoms of metatropic dysplasia can vary from relatively mild to
life-threatening. In the most severe cases, the narrow chest and spinal
abnormalities prevent the lungs from expanding fully, which restricts breathing.
Researchers formerly recognized several distinct forms of metatropic dysplasia
based on the severity of the condition's features. The forms included a mild
type, a classic type, and a lethal type. However, all of these forms are now
considered to be part of a single condition with a spectrum of overlapping signs
and symptoms.
related-gene-list
Methemoglobinemia, beta-globin type https://ghr.nlm.nih.gov/condition/methemoglobinemia-beta-globin-type The incidence of methemoglobinemia, beta-globin type is unknown. html:p Methemoglobinemia, beta-globin type is a condition that affects the function of ad autosomal dominant HBB https://ghr.nlm.nih.gov/gene/HBB blue baby syndrome db key 2015-07 2017-12-29
red blood cells. Specifically, it alters a molecule called hemoglobin within congenital methemoglobinemia GTR C1840779
these cells. Hemoglobin within red blood cells attaches (binds) to oxygen hemoglobin M disease db key
molecules in the lungs, which it carries through the bloodstream, then releases ICD-10-CM D74.0
in tissues throughout the body. Instead of normal hemoglobin, people with db key
methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, MeSH D008708
which is unable to efficiently deliver oxygen to the body's tissues. In db key
methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a OMIM 141900
brown color. It also causes a bluish appearance of the skin, lips, and nails db key
(cyanosis), which usually first appears around the age of 6 months. The signs Orphanet 621
and symptoms of methemoglobinemia, beta-globin type are generally limited to db key
cyanosis, which does not cause any health problems. However, in rare cases, Orphanet 330041
severe methemoglobinemia, beta-globin type can cause headaches, weakness, and db key
fatigue. SNOMED CT 267550008
Methylmalonate semialdehydede hydrogenase deficiency
甲基丙二酸半醛脫氫酶缺乏症
related-gene-list
Methylmalonic acidemia, MMA https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia This condition occurs in an estimated 1 in 50,000 to 100,000 people. html:p Methylmalonic acidemia is an inherited disorder in which the body is unable to ar autosomal recessive MCEE https://ghr.nlm.nih.gov/gene/MCEE isolated methylmalonic acidemia db key 2011-07 2017-12-29
甲基丙二酸血症 process certain proteins and fats (lipids) properly. The effects of related-gene gene-symbol ghr-page methylmalonic aciduria GTR C0268583
methylmalonic acidemia, which usually appear in early infancy, vary from mild to MMAA https://ghr.nlm.nih.gov/gene/MMAA MMA db key
life-threatening. Affected infants can experience vomiting, dehydration, weak related-gene gene-symbol ghr-page GTR C1855100
muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an MMAB https://ghr.nlm.nih.gov/gene/MMAB db key
enlarged liver (hepatomegaly), and failure to gain weight and grow at the related-gene gene-symbol ghr-page GTR C1855102
expected rate (failure to thrive). Long-term complications can include feeding MMADHC https://ghr.nlm.nih.gov/gene/MMADHC db key
problems, intellectual disability, chronic kidney disease, and inflammation of related-gene gene-symbol ghr-page GTR C1855109
the pancreas (pancreatitis). Without treatment, this disorder can lead to coma MUT https://ghr.nlm.nih.gov/gene/MUT db key
and death in some cases. GTR C1855114
db key
GeneReviews mma
db key
ICD-10-CM E71.120
db key
MeSH D008661
db key
OMIM 251000
db key
OMIM 251100
db key
OMIM 251110
db key
OMIM 251120
db key
OMIM 277410
db key
Orphanet 293355
db key
SNOMED CT 42393006
db key
SNOMED CT 69614003
db key
SNOMED CT 73843004
db key
related-gene-list SNOMED CT 82245003
Methylmalonic acidemia with homocystinuria https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia-with-homocystinuria The most common form of the condition, called methylmalonic acidemia with html:p Methylmalonic acidemia with homocystinuria is an inherited disorder in which the ar autosomal recessive ABCD4 https://ghr.nlm.nih.gov/gene/ABCD4 methylmalonic acidemia and homocystinemia db key 2016-02 2017-12-29
Cobalamin C defect homocystinuria, cblC type, is estimated to affect 1 in 200,000 newborns body is unable to properly process protein building blocks (amino acids), code memo related-gene gene-symbol ghr-page methylmalonic acidemia and homocystinuria GTR C1848552
甲基丙二酸血症併高胱胺酸血症 (Cbl C 型) worldwide. Studies indicate that this form of the condition may be even more certain fats (lipids), and a waxy fat-like substance called cholesterol. xr X-linked recessive HCFC1 https://ghr.nlm.nih.gov/gene/HCFC1 methylmalonic aciduria and homocystinuria db key
common in particular populations. These studies estimate the condition occurs in Individuals with this disorder have a combination of features from two separate related-gene gene-symbol ghr-page vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA GTR C1848561
1 in 100,000 people in New York and 1 in 60,000 people in California. Other conditions, methylmalonic acidemia and homocystinuria. The signs and symptoms of LMBRD1 https://ghr.nlm.nih.gov/gene/LMBRD1 mutase and homocysteine:methyltetrahydrofolate methyltransferase db key
types of methylmalonic acidemia with homocystinuria are much less common. Fewer the combined condition, methylmalonic acidemia with homocystinuria, usually related-gene gene-symbol ghr-page vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA GTR C1848578
than 20 cases of each of the other types have been reported in the medical develop in infancy, although they can begin at any age. MMACHC https://ghr.nlm.nih.gov/gene/MMACHC mutase and methionine synthase activities db key
literature. html:p When the condition begins early in life, affected individuals typically have an related-gene gene-symbol ghr-page GTR C3553915
inability to grow and gain weight at the expected rate (failure to thrive), MMADHC https://ghr.nlm.nih.gov/gene/MMADHC db key
which is sometimes recognized before birth (intrauterine growth retardation). GeneReviews cbl
These infants can also have difficulty feeding and an abnormally pale appearance db key
(pallor). Neurological problems are also common in methylmalonic acidemia with MeSH D000592
homocystinuria, including weak muscle tone (hypotonia) and seizures. Most db key
infants and children with this condition have an unusually small head size OMIM 277380
(microcephaly), delayed development, and intellectual disability. Less common db key
features of the condition include eye problems and a blood disorder called OMIM 277400
megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number db key
of red blood cells (anemia), and the remaining red blood cells are larger than OMIM 277410
normal (megaloblastic). The signs and symptoms of methylmalonic acidemia with db key
homocystinuria worsen over time, and the condition can be life-threatening if OMIM 614857
not treated. db key
html:p When methylmalonic acidemia with homocystinuria begins in adolescence or Orphanet 26
adulthood, the signs and symptoms usually include psychiatric changes and db key
cognitive problems. Affected individuals can exhibit changes in their behavior Orphanet 79282
and personality; they may become less social and may experience hallucinations, db key
delirium, and psychosis. In addition, these individuals can begin to lose Orphanet 79283
previously acquired mental and movement abilities, resulting in a decline in db key
school or work performance, difficulty controlling movements, memory problems, Orphanet 79284
speech difficulties, a decline in intellectual function (dementia), or an db key
extreme lack of energy (lethargy). Some people with methylmalonic acidemia with SNOMED CT 4409006
homocystinuria whose signs and symptoms begin later in life develop a condition
called subacute combined degeneration of the spinal cord, which leads to
numbness and weakness in the lower limbs, difficulty walking, and frequent
falls.
related-gene-list
Mevalonate kinase deficiency https://ghr.nlm.nih.gov/condition/mevalonate-kinase-deficiency More than 200 people with mevalonate kinase deficiency have been reported html:p Mevalonate kinase deficiency is a condition characterized by recurrent episodes ar autosomal recessive MVK https://ghr.nlm.nih.gov/gene/MVK hyper IgD syndrome db key 2011-04 2017-12-29
甲羥戊酸激酶缺乏症 worldwide; the majority of these individuals have HIDS. of fever, which typically begin during infancy. Each episode of fever lasts hyperimmunoglobulin D with periodic fever GTR C0398691
about 3 to 6 days, and the frequency of the episodes varies among affected hyperimmunoglobulinemia D db key
individuals. In childhood the fevers seem to be more frequent, occurring as mevalonic aciduria GTR C1959626
often as 25 times a year, but as the individual gets older the episodes occur mevalonicaciduria db key
less often. periodic fever, Dutch type MeSH D054078
html:p Mevalonate kinase deficiency has additional signs and symptoms, and the severity db key
depends on the type of the condition. There are two types of mevalonate kinase OMIM 260920
deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) db key
and a more severe type called mevalonic aciduria (MVA). OMIM 610377
html:p During episodes of fever, people with HIDS typically have enlargement of the db key
lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin Orphanet 29
rashes, and headache. Occasionally they will have painful sores called aphthous db key
ulcers around their mouth. In females, these may also occur around the vagina. A SNOMED CT 124327008
small number of people with HIDS have intellectual disability, problems with db key
movement and balance (ataxia), eye problems, and recurrent seizures (epilepsy). SNOMED CT 234538002
Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in
the kidneys that can lead to kidney failure. Fever episodes in individuals with
HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people
with HIDS have abnormally high levels of immune system proteins called
immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear
why people with HIDS have high levels of IgD and IgA. Elevated levels of these
immunoglobulins do not appear to cause any signs or symptoms. Individuals with
HIDS do not have any signs and symptoms of the condition between fever episodes
and typically have a normal life expectancy.
html:p People with MVA have signs and symptoms of the condition at all times, not just
during episodes of fever. Affected children have developmental delay,
progressive ataxia, progressive problems with vision, and failure to gain weight
and grow at the expected rate (failure to thrive). Individuals with MVA
typically have an unusually small, elongated head. In childhood or adolescence,
affected individuals may develop eye problems such as inflammation of the eye
(uveitis), a blue tint in the white part of the eye (blue sclera), an eye
disorder called retinitis pigmentosa that causes vision loss, or clouding of the
lens of the eye (cataracts). Affected adults may have short stature and may
develop muscle weakness (myopathy) later in life. During fever episodes, people
with MVA may have an enlarged liver and spleen (hepatosplenomegaly),
lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA
who are severely affected with multiple problems may live only into early
childhood; mildly affected individuals may have a normal life expectancy.
related-gene-list
Microcephalic osteodysplastic primordial dwarfism type II https://ghr.nlm.nih.gov/condition/microcephalic-osteodysplastic-primordial-dwarf MOPDII appears to be a rare condition, although its prevalence is unknown. html:p Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a ar autosomal recessive PCNT https://ghr.nlm.nih.gov/gene/PCNT Majewski osteodysplastic primordial dwarfism type II db key 2011-01 2017-12-29
ism-type-ii condition characterized by short stature (dwarfism) with other skeletal MOPD2 GTR C0432246
abnormalities (osteodysplasia) and an unusually small head size (microcephaly). MOPDII db key
The growth problems in MOPDII are primordial, meaning they begin before birth, osteodysplastic primordial dwarfism type II MeSH D004392
with affected individuals showing slow prenatal growth (intrauterine growth db key
retardation). After birth, affected individuals continue to grow at a very slow OMIM 210720
rate. The final adult height of people with this condition ranges from 20 inches db key
to 40 inches. Other skeletal abnormalities in MOPDII include abnormal Orphanet 2637
development of the hip joints (hip dysplasia), thinning of the bones in the arms db key
and legs, an abnormal side-to-side curvature of the spine (scoliosis), and SNOMED CT 254103003
shortened wrist bones. In people with MOPDII head growth slows over time;
affected individuals have an adult brain size comparable to that of a
3-month-old infant. However, intellectual development is typically normal.
html:p People with this condition typically have a high-pitched, nasal voice that
results from a narrowing of the voicebox (subglottic stenosis). Facial features
characteristic of MOPDII include a prominent nose, full cheeks, a long midface,
and a small jaw. Other signs and symptoms seen in some people with MOPDII
include small teeth (microdontia) and farsightedness. Over time, affected
individuals may develop areas of abnormally light or dark skin coloring
(pigmentation).
html:p Many individuals with MOPDII have blood vessel abnormalities. For example, some
affected individuals develop a bulge in one of the blood vessels at the center
of the brain (intracranial aneurysm). These aneurysms are dangerous because they
can burst, causing bleeding within the brain. Some affected individuals have
Moyamoya disease, in which arteries at the base of the brain are narrowed,
leading to restricted blood flow. These vascular abnormalities are often
treatable, though they increase the risk of stroke and reduce the life
expectancy of affected individuals.
related-gene-list
Microcephaly-capillary malformation syndrome https://ghr.nlm.nih.gov/condition/microcephaly-capillary-malformation-syndrome Microcephaly-capillary malformation syndrome is rare. About a dozen people html:p Microcephaly-capillary malformation syndrome is an inherited disorder ar autosomal recessive STAMBP https://ghr.nlm.nih.gov/gene/STAMBP MIC-CAP syndrome db key 2014-02 2017-12-29
have been diagnosed with the disorder. characterized by an abnormally small head size (microcephaly) and abnormalities GTR C3280296
of small blood vessels in the skin called capillaries (capillary malformations). db key
html:p In people with microcephaly-capillary malformation syndrome, microcephaly begins GeneReviews miccap-ms
before birth and is associated with an unusually small brain and multiple brain db key
abnormalities. Affected individuals develop seizures that can occur many times MeSH D008831
per day and are difficult to treat (intractable epilepsy). The problems with db key
brain development and epilepsy lead to profound developmental delay and MeSH D054079
intellectual impairment. Most affected individuals do not develop skills beyond db key
those of a 1- or 2-month-old infant. For example, most children with this OMIM 614261
condition are never able to control their head movements or sit unassisted. db key
html:p Capillary malformations are composed of enlarged capillaries that increase blood Orphanet 294016
flow near the surface of the skin. These malformations look like pink or red db key
spots on the skin. People with microcephaly-capillary malformation syndrome are SNOMED CT 703369003
born with anywhere from a few to hundreds of these spots, which can occur
anywhere on the body. The spots are usually round or oval-shaped and range in
size from the head of a pin to a large coin.
html:p Other signs and symptoms of microcephaly-capillary malformation syndrome include
abnormal movements, feeding difficulties, slow growth, and short stature. Most
affected individuals have abnormalities of the fingers and toes, including
digits with tapered ends and abnormally small or missing fingernails and
toenails. Some affected children also have distinctive facial features and an
unusual pattern of hair growth on the scalp.
related-gene-list
Microphthalmia https://ghr.nlm.nih.gov/condition/microphthalmia Microphthalmia occurs in approximately 1 in 10,000 individuals. html:p Microphthalmia is an eye abnormality that arises before birth. In this ar autosomal recessive BCOR https://ghr.nlm.nih.gov/gene/BCOR microphthalmos db key 2011-11 2017-12-29
小眼 condition, one or both eyeballs are abnormally small. In some affected related-gene gene-symbol ghr-page GTR C0026010
individuals, the eyeball may appear to be completely missing; however, even in BMP4 https://ghr.nlm.nih.gov/gene/BMP4 db key
these cases some remaining eye tissue is generally present. Such severe related-gene gene-symbol ghr-page GTR C1834918
microphthalmia should be distinguished from another condition called GDF3 https://ghr.nlm.nih.gov/gene/GDF3 db key
anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia related-gene gene-symbol ghr-page GTR C1834919
and severe microphthalmia are often used interchangeably. Microphthalmia may or GDF6 https://ghr.nlm.nih.gov/gene/GDF6 db key
may not result in significant vision loss. related-gene gene-symbol ghr-page GTR C1845877
html:p People with microphthalmia may also have a condition called coloboma. Colobomas MFRP https://ghr.nlm.nih.gov/gene/MFRP db key
are missing pieces of tissue in structures that form the eye. They may appear as related-gene gene-symbol ghr-page GTR C1854018
notches or gaps in the colored part of the eye called the iris; the retina, OTX2 https://ghr.nlm.nih.gov/gene/OTX2 db key
which is the specialized light-sensitive tissue that lines the back of the eye; related-gene gene-symbol ghr-page GTR C1855052
the blood vessel layer under the retina called the choroid; or in the optic PAX6 https://ghr.nlm.nih.gov/gene/PAX6 db key
nerves, which carry information from the eyes to the brain. Colobomas may be related-gene gene-symbol ghr-page GTR C1855053
present in one or both eyes and, depending on their size and location, can PRSS56 https://ghr.nlm.nih.gov/gene/PRSS56 db key
affect a person's vision. related-gene gene-symbol ghr-page GTR C1859311
html:p People with microphthalmia may also have other eye abnormalities, including RAX https://ghr.nlm.nih.gov/gene/RAX db key
clouding of the lens of the eye (cataract) and a narrowed opening of the eye related-gene gene-symbol ghr-page GTR C1864720
(narrowed palpebral fissure). Additionally, affected individuals may have an SHH https://ghr.nlm.nih.gov/gene/SHH db key
abnormality called microcornea, in which the clear front covering of the eye related-gene gene-symbol ghr-page GTR C1864721
(cornea) is small and abnormally curved. SIX6 https://ghr.nlm.nih.gov/gene/SIX6 db key
html:p Between one-third and one-half of affected individuals have microphthalmia as related-gene gene-symbol ghr-page GTR C1968843
part of a syndrome that affects other organs and tissues in the body. These SOX2 https://ghr.nlm.nih.gov/gene/SOX2 db key
forms of the condition are described as syndromic. When microphthalmia occurs by related-gene gene-symbol ghr-page GTR C1970236
itself, it is described as nonsyndromic or isolated. STRA6 https://ghr.nlm.nih.gov/gene/STRA6 db key
related-gene gene-symbol ghr-page GTR C1970237
VSX2 https://ghr.nlm.nih.gov/gene/VSX2 db key
GTR C2751307
db key
GTR C3150757
db key
GTR C3150968
db key
GTR C3150969
db key
GTR C3554524
db key
GTR CN120488
db key
GeneReviews anophthalmia-ov
db key
ICD-10-CM Q11.2
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MeSH D008850
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OMIM 156850
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OMIM 156900
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OMIM 212550
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OMIM 251505
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OMIM 251600
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OMIM 300345
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OMIM 605738
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OMIM 610092
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OMIM 610093
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OMIM 611038
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OMIM 611040
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OMIM 611638
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OMIM 613094
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OMIM 613517
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OMIM 613703
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OMIM 613704
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OMIM 615113
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OMIM 615145
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Orphanet 2542
db key
Orphanet 2543
db key
Orphanet 98555
db key
Orphanet 98938
db key
related-gene-list SNOMED CT 61142002
Microphthalmia with linear skin defects syndrome https://ghr.nlm.nih.gov/condition/microphthalmia-with-linear-skin-defects-syndro The prevalence of microphthalmia with linear skin defects syndrome is html:p Microphthalmia with linear skin defects syndrome is a disorder that mainly xd X-linked dominant HCCS https://ghr.nlm.nih.gov/gene/HCCS MCOPS7 db key 2009-10 2017-12-29
me unknown. More than 50 affected individuals have been identified. affects females. In people with this condition, one or both eyes may be very related-chromosome name ghr-page microphthalmia syndromic 7 GTR C0796070
small or poorly developed (microphthalmia). Affected individuals also typically X https://ghr.nlm.nih.gov/chromosome/X microphthalmia with linear skin lesions syndrome db key
have unusual linear skin markings on the head and neck. These markings follow microphthalmia, dermal aplasia, and sclerocornea GeneReviews microph-lsd
the paths along which cells migrate as the skin develops before birth (lines of microphthalmia, syndromic 7 db key
Blaschko). The skin defects generally improve over time and leave variable MIDAS syndrome MeSH D008850
degrees of scarring. MLS syndrome db key
html:p The signs and symptoms of microphthalmia with linear skin defects syndrome vary syndromic microphthalmia-7 OMIM 309801
widely, even among affected individuals within the same family. In addition to db key
the characteristic eye problems and skin markings, this condition can cause Orphanet 2556
abnormalities in the brain, heart, and genitourinary system. A hole in the db key
muscle that separates the abdomen from the chest cavity (the diaphragm), which SNOMED CT 721879006
is called a diaphragmatic hernia, may occur in people with this disorder.
Affected individuals may also have short stature and fingernails and toenails
that do not grow normally (nail dystrophy).
related-gene-list
Microvillus inclusion disease https://ghr.nlm.nih.gov/condition/microvillus-inclusion-disease The prevalence of microvillus inclusion disease is unknown. At least 200 html:p Microvillus inclusion disease is a condition characterized by chronic, watery, ar autosomal recessive MYO5B https://ghr.nlm.nih.gov/gene/MYO5B congenital enteropathy db key 2014-07 2017-12-29
微絨毛包涵病 cases have been reported in Europe, although this condition occurs worldwide. life-threatening diarrhea typically beginning in the first hours to days of related-gene gene-symbol ghr-page congenital familial protracted diarrhea with enterocyte brush-border GTR C0341306
life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake STX3 https://ghr.nlm.nih.gov/gene/STX3 abnormalities db key
increases the frequency of diarrhea. congenital microvillous atrophy MeSH D008286
html:p Microvillus inclusion disease prevents the absorption of nutrients from food Davidson disease db key
during digestion, resulting in malnutrition and dehydration. Affected infants familial protracted enteropathy OMIM 251850
often have difficulty gaining weight and growing at the expected rate (failure intractable diarrhea of infancy db key
to thrive), developmental delay, liver and kidney problems, and thinning of the microvillous atrophy Orphanet 2290
bones (osteoporosis). Some affected individuals develop cholestasis, which is a microvillous inclusion disease db key
reduced ability to produce and release a digestive fluid called bile. microvillus atrophy with diarrhea 2 SNOMED CT 235729009
Cholestasis leads to irreversible liver disease (cirrhosis). MVID
html:p In individuals with microvillus inclusion disease, lifelong nutritional support
is needed and given through intravenous feedings (parenteral nutrition). Even
with nutritional supplementation, most children with microvillus inclusion
disease do not survive beyond childhood.
html:p A variant of microvillus inclusion disease with milder diarrhea often does not
require full-time parenteral nutrition. Individuals with the variant type
frequently live past childhood.
related-gene-list
Miller-Dieker syndrome, MDS https://ghr.nlm.nih.gov/condition/miller-dieker-syndrome Miller-Dieker syndrome appears to be a rare disorder, although its html:p Miller-Dieker syndrome is a condition characterized by a pattern of abnormal ad autosomal dominant PAFAH1B1 https://ghr.nlm.nih.gov/gene/PAFAH1B1 classical lissencephaly syndrome db key 2009-11 2017-12-29
Miller-Dieker 综合症 prevalence is unknown. brain development known as lissencephaly. Normally the exterior of the brain code memo related-gene gene-symbol ghr-page MDS GTR C0265219
Miller-Dieker 症候群 (cerebral cortex) is multi-layered with folds and grooves. People with n not inherited YWHAE https://ghr.nlm.nih.gov/gene/YWHAE Miller-Dieker lissencephaly syndrome db key
lissencephaly have an abnormally smooth brain with fewer folds and grooves. related-chromosome name ghr-page GeneReviews chrom17-lis
These brain malformations cause severe intellectual disability, developmental 17 https://ghr.nlm.nih.gov/chromosome/17 db key
delay, seizures, abnormal muscle stiffness (spasticity), weak muscle tone MeSH D054221
(hypotonia), and feeding difficulties. Seizures usually begin before six months db key
of age, and some occur from birth. Typically, the smoother the surface of the OMIM 247200
brain is, the more severe the associated symptoms are. db key
html:p In addition to lissencephaly, people with Miller-Dieker syndrome tend to have Orphanet 531
distinctive facial features that include a prominent forehead; a sunken db key
appearance in the middle of the face (midface hypoplasia); a small, upturned SNOMED CT 253148005
nose; low-set and abnormally shaped ears; a small jaw; and a thick upper lip.
Some individuals with this condition also grow more slowly than other children.
Rarely, affected individuals will have heart or kidney malformations or an
opening in the wall of the abdomen (an omphalocele) that allows the abdominal
organs to protrude through the navel. People with Miller-Dieker syndrome may
also have life-threatening breathing problems. Most individuals with this
condition do not survive beyond childhood.
related-gene-list
Miller syndrome https://ghr.nlm.nih.gov/condition/miller-syndrome Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 html:p Miller syndrome is a rare condition that mainly affects the development of the ar autosomal recessive DHODH https://ghr.nlm.nih.gov/gene/DHODH Genee-Wiedemann acrofacial dysostosis db key 2010-08 2017-12-29
米勒症候群 in 1 million newborns. At least 30 cases have been reported in the medical face and limbs. The severity of this disorder varies among affected individuals. Genee-Wiedemann syndrome GTR C0265257
literature. html:p Children with Miller syndrome are born with underdeveloped cheek bones (malar postaxial acrofacial dysostosis (POADS) db key
hypoplasia) and a very small lower jaw (micrognathia). They often have an MeSH D003394
opening in the roof of the mouth (cleft palate) and/or a split in the upper lip db key
(cleft lip). These abnormalities frequently cause feeding problems in infants OMIM 263750
with Miller syndrome. The airway is usually restricted due to the micrognathia, db key
which can lead to life-threatening breathing problems. Orphanet 246
html:p People with Miller syndrome often have eyes that slant downward, eyelids that db key
turn out so the inner surface is exposed (ectropion), and a notch in the lower SNOMED CT 66038001
eyelids called an eyelid coloboma. Many affected individuals have small,
cup-shaped ears, and some have hearing loss caused by defects in the middle ear
(conductive hearing loss). Another feature of this condition is the presence of
extra nipples. Miller syndrome does not affect a person's intelligence, although
speech development may be delayed due to hearing impairment.
html:p Individuals with Miller syndrome have various bone abnormalities in their arms
and legs. The most common problem is absent fifth (pinky) fingers and toes.
Affected individuals may also have webbed or fused fingers or toes (syndactyly)
and abnormally formed bones in the forearms and lower legs. People with Miller
syndrome sometimes have defects in other bones, such as the ribs or spine.
html:p Less commonly, affected individuals have abnormalities of the heart, kidneys,
genitalia, or gastrointestinal tract.
related-gene-list
Milroy disease https://ghr.nlm.nih.gov/condition/milroy-disease Milroy disease is a rare disorder; its incidence is unknown. html:p Milroy disease is a condition that affects the normal function of the lymphatic ad autosomal dominant FLT4 https://ghr.nlm.nih.gov/gene/FLT4 congenital familial lymphedema db key 2013-04 2017-12-29
(Lymphedema) system. The lymphatic system produces and transports fluids and immune cells hereditary lymphedema type I GTR C1704423
throughout the body. Impaired transport with accumulation of lymph fluid can Milroy's disease db key
cause swelling (lymphedema). Individuals with Milroy disease typically have Nonne-Milroy lymphedema GeneReviews milroy
lymphedema in their lower legs and feet at birth or develop it in infancy. The db key
lymphedema typically occurs on both sides of the body and may worsen over time. ICD-10-CM Q82.0
html:p Milroy disease is associated with other features in addition to lymphedema. db key
Males with Milroy disease are sometimes born with an accumulation of fluid in MeSH D008209
the scrotum (hydrocele). Males and females may have upslanting toenails, deep db key
creases in the toes, wart-like growths (papillomas), and prominent leg veins. OMIM 153100
Some individuals develop non-contagious skin infections called cellulitis that db key
can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes Orphanet 2416
of cellulitis can cause further swelling in the lower limbs. db key
related-gene-list SNOMED CT 399889006
Mitochondrial complex I deficiency https://ghr.nlm.nih.gov/condition/mitochondrial-complex-i-deficiency Mitochondrial diseases are thought to occur in about 1 in 8,500 people. html:p Mitochondrial complex I deficiency is a shortage (deficiency) of a protein ar autosomal recessive ACAD9 https://ghr.nlm.nih.gov/gene/ACAD9 NADH-coenzyme Q reductase deficiency db key 2017-11 2017-12-29
粒線體Complex I缺乏症 Mitochondrial complex I deficiency is the most common cause of mitochondrial complex called complex I or a loss of its function. Complex I is found in cell code memo related-gene gene-symbol ghr-page NADH:Q(1) oxidoreductase deficiency GTR C1838979
disease in children, accounting for approximately 30 percent of cases. structures called mitochondria, which convert the energy from food into a form m mitochondrial ELAC2 https://ghr.nlm.nih.gov/gene/ELAC2 db key
that cells can use. Complex I is the first of five mitochondrial complexes that code memo related-gene gene-symbol ghr-page GeneReviews mt-overview
carry out a multi-step process called oxidative phosphorylation, through which x X-linked FOXRED1 https://ghr.nlm.nih.gov/gene/FOXRED1 db key
cells derive much of their energy. related-gene gene-symbol ghr-page MeSH D028361
html:p Mitochondrial complex I deficiency can cause a wide variety of signs and MT-ND1 https://ghr.nlm.nih.gov/gene/MT-ND1 db key
symptoms affecting many organs and systems of the body, particularly the nervous related-gene gene-symbol ghr-page OMIM 252010
system, the heart, and the muscles used for movement (skeletal muscles). These MT-ND2 https://ghr.nlm.nih.gov/gene/MT-ND2 db key
signs and symptoms can appear at any time from birth to adulthood. related-gene gene-symbol ghr-page Orphanet 2609
html:p People with mitochondrial complex I deficiency typically have neurological MT-ND3 https://ghr.nlm.nih.gov/gene/MT-ND3
problems, such as abnormal brain function (encephalopathy), recurrent seizures related-gene gene-symbol ghr-page
(epilepsy), intellectual disability, difficulty coordinating movements (ataxia), MT-ND4 https://ghr.nlm.nih.gov/gene/MT-ND4
or involuntary movements (dystonia). Affected individuals may have low muscle related-gene gene-symbol ghr-page
tone (hypotonia), muscle pain (myalgia), and extreme fatigue in response to MT-ND4L https://ghr.nlm.nih.gov/gene/MT-ND4L
physical activity (exercise intolerance). They tend to develop elevated levels related-gene gene-symbol ghr-page
of lactic acid in the blood (lactic acidosis), which can cause nausea, vomiting, MT-ND5 https://ghr.nlm.nih.gov/gene/MT-ND5
weakness, and rapid breathing. In severe cases, lactic acidosis can be related-gene gene-symbol ghr-page
life-threatening. MT-ND6 https://ghr.nlm.nih.gov/gene/MT-ND6
html:p People with mitochondrial complex I deficiency sometimes have heart, liver, or related-gene gene-symbol ghr-page
kidney problems. Vision problems due to abnormal eye movement or breakdown MT-TL1 https://ghr.nlm.nih.gov/gene/MT-TL1
(degeneration) of the nerves that carry signals from the eyes to the brain related-gene gene-symbol ghr-page
(optic nerves) can also occur. MTFMT https://ghr.nlm.nih.gov/gene/MTFMT
html:p Some people with mitochondrial complex I deficiency have groups of signs and related-gene gene-symbol ghr-page
symptoms that are classified as a specific syndrome. For example, a condition NDUFA1 https://ghr.nlm.nih.gov/gene/NDUFA1
called Leigh syndrome is most commonly caused by mitochondrial complex I related-gene gene-symbol ghr-page
deficiency. Leigh syndrome is characterized by progressive loss of mental and NDUFA2 https://ghr.nlm.nih.gov/gene/NDUFA2
movement abilities (developmental or psychomotor regression) and typically related-gene gene-symbol ghr-page
results in death within 2 to 3 years from the onset of symptoms. Another NDUFA9 https://ghr.nlm.nih.gov/gene/NDUFA9
condition that can be caused by mitochondrial complex I deficiency, Leber related-gene gene-symbol ghr-page
hereditary optic neuropathy, is associated mainly with vision problems due to NDUFA10 https://ghr.nlm.nih.gov/gene/NDUFA10
optic nerve degeneration. These syndromes can also have other causes. related-gene gene-symbol ghr-page
NDUFA11 https://ghr.nlm.nih.gov/gene/NDUFA11
related-gene gene-symbol ghr-page
NDUFA12 https://ghr.nlm.nih.gov/gene/NDUFA12
related-gene gene-symbol ghr-page
NDUFA13 https://ghr.nlm.nih.gov/gene/NDUFA13
related-gene gene-symbol ghr-page
NDUFAF1 https://ghr.nlm.nih.gov/gene/NDUFAF1
related-gene gene-symbol ghr-page
NDUFAF2 https://ghr.nlm.nih.gov/gene/NDUFAF2
related-gene gene-symbol ghr-page
NDUFAF3 https://ghr.nlm.nih.gov/gene/NDUFAF3
related-gene gene-symbol ghr-page
NDUFAF4 https://ghr.nlm.nih.gov/gene/NDUFAF4
related-gene gene-symbol ghr-page
NDUFAF5 https://ghr.nlm.nih.gov/gene/NDUFAF5
related-gene gene-symbol ghr-page
NDUFAF6 https://ghr.nlm.nih.gov/gene/NDUFAF6
related-gene gene-symbol ghr-page
NDUFB3 https://ghr.nlm.nih.gov/gene/NDUFB3
related-gene gene-symbol ghr-page
NDUFB9 https://ghr.nlm.nih.gov/gene/NDUFB9
related-gene gene-symbol ghr-page
NDUFB10 https://ghr.nlm.nih.gov/gene/NDUFB10
related-gene gene-symbol ghr-page
NDUFB11 https://ghr.nlm.nih.gov/gene/NDUFB11
related-gene gene-symbol ghr-page
NDUFS1 https://ghr.nlm.nih.gov/gene/NDUFS1
related-gene gene-symbol ghr-page
NDUFS2 https://ghr.nlm.nih.gov/gene/NDUFS2
related-gene gene-symbol ghr-page
NDUFS3 https://ghr.nlm.nih.gov/gene/NDUFS3
related-gene gene-symbol ghr-page
NDUFS4 https://ghr.nlm.nih.gov/gene/NDUFS4
related-gene gene-symbol ghr-page
NDUFS6 https://ghr.nlm.nih.gov/gene/NDUFS6
related-gene gene-symbol ghr-page
NDUFS7 https://ghr.nlm.nih.gov/gene/NDUFS7
related-gene gene-symbol ghr-page
NDUFS8 https://ghr.nlm.nih.gov/gene/NDUFS8
related-gene gene-symbol ghr-page
NDUFV1 https://ghr.nlm.nih.gov/gene/NDUFV1
related-gene gene-symbol ghr-page
NDUFV2 https://ghr.nlm.nih.gov/gene/NDUFV2
related-gene gene-symbol ghr-page
NUBPL https://ghr.nlm.nih.gov/gene/NUBPL
related-gene gene-symbol ghr-page
PPA2 https://ghr.nlm.nih.gov/gene/PPA2
related-gene gene-symbol ghr-page
TIMMDC1 https://ghr.nlm.nih.gov/gene/TIMMDC1
related-gene gene-symbol ghr-page
TMEM126B https://ghr.nlm.nih.gov/gene/TMEM126B
related-gene-list
Mitochondrial complex III deficiency https://ghr.nlm.nih.gov/condition/mitochondrial-complex-iii-deficiency The prevalence of mitochondrial complex III deficiency is unknown, although html:p Mitochondrial complex III deficiency is a genetic condition that can affect ar autosomal recessive BCS1L https://ghr.nlm.nih.gov/gene/BCS1L isolated CoQ-cytochrome c reductase deficiency db key 2014-04 2017-12-29
粒線體Complex III缺乏症 the condition is thought to be rare. several parts of the body, including the brain, kidneys, liver, heart, and the code memo related-gene gene-symbol ghr-page ubiquinone-cytochrome c oxidoreductase deficiency GTR C1852372
muscles used for movement (skeletal muscles). Signs and symptoms of m mitochondrial CYC1 https://ghr.nlm.nih.gov/gene/CYC1 db key
mitochondrial complex III deficiency usually begin in infancy but can appear related-gene gene-symbol ghr-page GTR C3554605
later. LYRM7 https://ghr.nlm.nih.gov/gene/LYRM7 db key
html:p The severity of mitochondrial complex III deficiency varies widely among related-gene gene-symbol ghr-page GTR C3554606
affected individuals. People who are mildly affected tend to have muscle MT-CYB https://ghr.nlm.nih.gov/gene/MT-CYB db key
weakness (myopathy) and extreme tiredness (fatigue), particularly during related-gene gene-symbol ghr-page GTR C3554607
exercise (exercise intolerance). More severely affected individuals have TTC19 https://ghr.nlm.nih.gov/gene/TTC19 db key
problems with multiple body systems, such as liver disease that can lead to related-gene gene-symbol ghr-page GTR C3554608
liver failure, kidney abnormalities (tubulopathy), and brain dysfunction UQCC2 https://ghr.nlm.nih.gov/gene/UQCC2 db key
(encephalopathy). Encephalopathy can cause delayed development of mental and related-gene gene-symbol ghr-page GTR C3809553
motor skills (psychomotor delay), movement problems, weak muscle tone UQCRB https://ghr.nlm.nih.gov/gene/UQCRB db key
(hypotonia), and difficulty with communication. Some affected individuals have a related-gene gene-symbol ghr-page GTR C4014408
form of heart disease called cardiomyopathy, which can lead to heart failure. UQCRC2 https://ghr.nlm.nih.gov/gene/UQCRC2 db key
Most people with mitochondrial complex III deficiency have a buildup of a related-gene gene-symbol ghr-page GTR C4014440
chemical called lactic acid in the body (lactic acidosis). Some affected UQCRQ https://ghr.nlm.nih.gov/gene/UQCRQ db key
individuals also have buildup of molecules called ketones (ketoacidosis) or high related-mitochondrial-dna name ghr-page GeneReviews mt-overview
blood sugar levels (hyperglycemia). Abnormally high levels of these chemicals mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna db key
in the body can be life-threatening. MeSH D028361
html:p Mitochondrial complex III deficiency can be fatal in childhood, although db key
individuals with mild signs and symptoms can survive into adolescence or OMIM 124000
adulthood. db key
OMIM 615157
db key
OMIM 615158
db key
OMIM 615159
db key
OMIM 615160
db key
OMIM 615453
db key
related-gene-list SNOMED CT 709414007
Mitochondrial complex V deficiency https://ghr.nlm.nih.gov/condition/mitochondrial-complex-v-deficiency The prevalence of mitochondrial complex V deficiency is unknown. html:p Mitochondrial complex V deficiency is a shortage (deficiency) of a protein ar autosomal recessive ATP5F1A https://ghr.nlm.nih.gov/gene/ATP5F1A ATP synthase deficiency db key 2017-11 2017-12-29
Researchers suggest that the condition may be underdiagnosed because affected complex called complex V or a loss of its function. Complex V is found in cell code memo related-gene gene-symbol ghr-page GeneReviews mt-overview
individuals can have a wide variety of features that are not specific to this structures called mitochondria, which convert the energy from food into a form m mitochondrial ATP5F1E https://ghr.nlm.nih.gov/gene/ATP5F1E db key
condition. that cells can use. Complex V is the last of five mitochondrial complexes that related-gene gene-symbol ghr-page MeSH D028361
carry out a multistep process called oxidative phosphorylation, through which ATPAF2 https://ghr.nlm.nih.gov/gene/ATPAF2 db key
cells derive much of their energy. related-gene gene-symbol ghr-page OMIM 604273
html:p Mitochondrial complex V deficiency can cause a wide variety of signs and MT-ATP6 https://ghr.nlm.nih.gov/gene/MT-ATP6 db key
symptoms affecting many organs and systems of the body, particularly the nervous related-gene gene-symbol ghr-page OMIM 614052
system and the heart. The disorder can be life-threatening in infancy or early MT-ATP8 https://ghr.nlm.nih.gov/gene/MT-ATP8 db key
childhood. Affected individuals may have feeding problems, slow growth, low related-gene gene-symbol ghr-page OMIM 614053
muscle tone (hypotonia), extreme fatigue (lethargy), and developmental delay. TMEM70 https://ghr.nlm.nih.gov/gene/TMEM70 db key
They tend to develop elevated levels of lactic acid in the blood (lactic OMIM 615228
acidosis), which can cause nausea, vomiting, weakness, and rapid breathing. High db key
levels of ammonia in the blood (hyperammonemia) can also occur in affected Orphanet 1194
individuals, and in some cases result in abnormal brain function db key
(encephalopathy) and damage to other organs. SNOMED CT 237992004
html:p Another common feature of mitochondrial complex V deficiency is hypertrophic
cardiomyopathy. This condition is characterized by thickening (hypertrophy) of
the heart (cardiac) muscle that can lead to heart failure. People with
mitochondrial complex V deficiency may also have a characteristic pattern of
facial features, including a high forehead, curved eyebrows, outside corners of
the eyes that point downward (downslanting palpebral fissures), a prominent
bridge of the nose, low-set ears, thin lips, and a small chin (micrognathia).
html:p Some people with mitochondrial complex V deficiency have groups of signs and
symptoms that are classified as a specific syndrome. For example, mitochondrial
complex V deficiency can cause a condition called neuropathy, ataxia, and
retinitis pigmentosa (NARP). NARP causes a variety of signs and symptoms chiefly
affecting the nervous system. Beginning in childhood or early adulthood, most
people with NARP experience numbness, tingling, or pain in the arms and legs
(sensory neuropathy); muscle weakness; and problems with balance and
coordination (ataxia). Many affected individuals also have cognitive impairment
and an eye disorder called retinitis pigmentosa that causes vision loss.
html:p A condition called Leigh syndrome can also be caused by mitochondrial complex V
deficiency. Leigh syndrome is characterized by progressive loss of mental and
movement abilities (developmental or psychomotor regression) and typically
results in death within 2 to 3 years after the onset of symptoms. Both NARP and
Leigh syndrome can also have other causes.
Mitochondrial disorder
粒線體疾病
Mitochondrial DNA Depletion syndrome, MDS
粒線體DNA耗竭症候群
Mitochondrial DNA Large Deletion
粒線體去氧核酸大片段缺失
related-gene-list
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, MELAS https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and--stroke-like-episodes The exact incidence of MELAS is unknown. It is one of the more common html:p Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes m mitochondrial MT-ND1 https://ghr.nlm.nih.gov/gene/MT-ND1 MELAS db key 2013-12 2017-12-29
粒線體腦病變、乳酸血症及類中風症狀 s-and-stroke-like-episodes conditions in a group known as mitochondrial diseases. Together, mitochondrial (MELAS) is a condition that affects many of the body's systems, particularly the related-gene gene-symbol ghr-page MELAS syndrome GTR C0162671
diseases occur in about 1 in 4,000 people. brain and nervous system (encephalo-) and muscles (myopathy). The signs and MT-ND5 https://ghr.nlm.nih.gov/gene/MT-ND5 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like db key
symptoms of this disorder most often appear in childhood following a period of related-gene gene-symbol ghr-page episodes GeneReviews melas
normal development, although they can begin at any age. Early symptoms may MT-TH https://ghr.nlm.nih.gov/gene/MT-TH mitochondrial myopathy, lactic acidosis, stroke-like episode db key
include muscle weakness and pain, recurrent headaches, loss of appetite, related-gene gene-symbol ghr-page myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke GeneReviews mt-overview
vomiting, and seizures. Most affected individuals experience stroke-like MT-TL1 https://ghr.nlm.nih.gov/gene/MT-TL1 db key
episodes beginning before age 40. These episodes often involve temporary muscle related-gene gene-symbol ghr-page ICD-10-CM E88.41
weakness on one side of the body (hemiparesis), altered consciousness, vision MT-TV https://ghr.nlm.nih.gov/gene/MT-TV db key
abnormalities, seizures, and severe headaches resembling migraines. Repeated related-mitochondrial-dna name ghr-page MeSH D017241
stroke-like episodes can progressively damage the brain, leading to vision loss, mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna db key
problems with movement, and a loss of intellectual function (dementia). OMIM 540000
html:p Most people with MELAS have a buildup of lactic acid in their bodies, a db key
condition called lactic acidosis. Increased acidity in the blood can lead to Orphanet 550
vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and db key
difficulty breathing. Less commonly, people with MELAS may experience SNOMED CT 39925003
involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia),
hearing loss, heart and kidney problems, diabetes, and hormonal imbalances.
related-gene-list
Mitochondrial membrane protein-associated neurodegeneration https://ghr.nlm.nih.gov/condition/mitochondrial-membrane-protein-associated-neurodegeneration MPAN is a rare condition that is estimated to affect less than 1 in 1 html:p Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder ar autosomal recessive C19orf12 https://ghr.nlm.nih.gov/gene/C19orf12 mitochondrial membrane protein-associated neurodegeneration due to C19orf12 db key 2017-01 2017-12-29
million people. of the nervous system. The condition typically begins in childhood or early mutation GTR C3280371
adulthood and worsens (progresses) over time. mitochondrial protein-associated neurodegeneration db key
html:p MPAN commonly begins with difficulty walking. As the condition progresses, MPAN GeneReviews mt-mpan
affected individuals usually develop other movement problems, including muscle NBIA4 db key
stiffness (spasticity) and involuntary muscle cramping (dystonia). Many people neurodegeneration with brain iron accumulation 4 GeneReviews nbia-ov
with MPAN have a pattern of movement abnormalities known as parkinsonism. These db key
abnormalities include unusually slow movement (bradykinesia), muscle rigidity, MeSH D019150
involuntary trembling (tremors), and an inability to hold the body upright and db key
balanced (postural instability). OMIM 614298
html:p Other neurological problems that occur in individuals with MPAN include db key
degeneration of the nerve cells that carry visual information from the eyes to Orphanet 289560
the brain (optic atrophy), which can impair vision; problems with speech db key
(dysarthria); difficulty swallowing (dysphagia); and, in later stages of the SNOMED CT 709415008
condition, an inability to control the bowels or the flow of urine
(incontinence). Additionally, affected individuals may experience a loss of
intellectual function (dementia) and psychiatric symptoms such as behavioral
problems, mood swings, hyperactivity, and depression.
html:p MPAN is characterized by an abnormal buildup of iron in certain regions of the
brain. Because of these deposits, MPAN is considered part of a group of
conditions known as neurodegeneration with brain iron accumulation (NBIA).
related-gene-list
Mitochondrial neurogastrointestinal encephalopathy disease https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalop The prevalence of MNGIE disease is unknown. About 70 people with this html:p Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a ar autosomal recessive TYMP https://ghr.nlm.nih.gov/gene/TYMP MEPOP db key 2008-06 2017-12-29
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome athy-disease disorder have been reported. condition that affects several parts of the body, particularly the digestive Mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and GTR C0872218
MNGIE症候群 (粒線體性神經胃腸腦病變症候群) system and nervous system. The major features of MNGIE disease can appear pseudo-obstruction db key
anytime from infancy to adulthood, but signs and symptoms most often begin by Mitochondrial neurogastrointestinal encephalopathy syndrome GeneReviews mngie
age 20. The medical problems associated with this disorder worsen with time. MNGIE disease db key
html:p Abnormalities of the digestive system are among the most common and severe MNGIE syndrome ICD-10-CM E88.49
features of MNGIE disease. Almost all affected people have a condition known as Myoneurogastrointestinal encephalopathy syndrome db key
gastrointestinal dysmotility, in which the muscles and nerves of the digestive Oculogastrointestinal muscular dystrophy MeSH D028361
system do not move food through the digestive tract efficiently. The resulting OGIMD db key
digestive problems include feelings of fullness (satiety) after eating only a POLIP OMIM 603041
small amount, trouble swallowing (dysphagia), nausea and vomiting after eating, Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal db key
episodes of abdominal pain, diarrhea, and intestinal blockage. These pseudo-obstruction Orphanet 298
gastrointestinal problems lead to extreme weight loss and reduced muscle mass Thymidine phosphorylase deficiency db key
(cachexia). SNOMED CT 124273008
html:p MNGIE disease is also characterized by abnormalities of the nervous system,
although these tend to be milder than the gastrointestinal problems. Affected
individuals experience tingling, numbness, and weakness in their limbs
(peripheral neuropathy), particularly in the hands and feet. Additional
neurological signs and symptoms can include droopy eyelids (ptosis), weakness of
the muscles that control eye movement (ophthalmoplegia), and hearing loss.
Leukoencephalopathy, which is the deterioration of a type of brain tissue known
as white matter, is a hallmark of MNGIE disease. These changes in the brain can
be seen with magnetic resonance imaging (MRI), though they usually do not cause
symptoms in people with this disorder.
related-gene-list
Mitochondrial trifunctional protein deficiency https://ghr.nlm.nih.gov/condition/mitochondrial-trifunctional-protein-deficiency Mitochondrial trifunctional protein deficiency is a rare disorder; its html:p Mitochondrial trifunctional protein deficiency is a rare condition that prevents ar autosomal recessive HADHA https://ghr.nlm.nih.gov/gene/HADHA MTP deficiency db key 2013-05 2017-12-29
incidence is unknown. the body from converting certain fats to energy, particularly during periods related-gene gene-symbol ghr-page TFP deficiency GTR C0342786
without food (fasting). HADHB https://ghr.nlm.nih.gov/gene/HADHB TPA deficiency db key
html:p Signs and symptoms of mitochondrial trifunctional protein deficiency may begin trifunctional protein deficiency, type 2 MeSH D008052
during infancy or later in life. Features that occur during infancy include db key
feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), OMIM 609015
weak muscle tone (hypotonia), and liver problems. Infants with this disorder db key
are also at high risk for serious heart problems, breathing difficulties, coma, Orphanet 746
and sudden death. Signs and symptoms of mitochondrial trifunctional protein db key
deficiency that may begin after infancy include hypotonia, muscle pain, a SNOMED CT 237999008
breakdown of muscle tissue, and a loss of sensation in the extremities
(peripheral neuropathy).
html:p Problems related to mitochondrial trifunctional protein deficiency can be
triggered by periods of fasting or by illnesses such as viral infections. This
disorder is sometimes mistaken for Reye syndrome, a severe disorder that may
develop in children while they appear to be recovering from viral infections
such as chicken pox or flu. Most cases of Reye syndrome are associated with the
use of aspirin during these viral infections.
related-gene-list
Miyoshi myopathy https://ghr.nlm.nih.gov/condition/miyoshi-myopathy The exact prevalence of Miyoshi myopathy is unknown. In Japan, where the html:p Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles ar autosomal recessive ANO5 https://ghr.nlm.nih.gov/gene/ANO5 distal muscular dystrophy, Miyoshi type db key 2016-12 2017-12-29
三好氏远端肌肉病变 condition was first described, it is estimated to affect 1 in 440,000 that are located away from the center of the body (distal muscles), such as related-gene gene-symbol ghr-page Miyoshi distal myopathy GTR C1850808
individuals. those in the legs. During early to mid-adulthood, affected individuals typically DYSF https://ghr.nlm.nih.gov/gene/DYSF Miyoshi muscular dystrophy db key
begin to experience muscle weakness and wasting (atrophy) in one or both MMD GTR C2750076
calves. If only one leg is affected, the calves appear different in size db key
(asymmetrical). Calf weakness can make it difficult to stand on tiptoe. GeneReviews ano5-md
html:p As Miyoshi myopathy slowly worsens, the muscle weakness and atrophy spread up db key
the leg to the muscles in the thigh and buttock and can also involve the upper GeneReviews miyoshi
arm and shoulder muscles. Eventually, affected individuals may have difficulty db key
climbing stairs or walking for an extended period of time. Some people with MeSH D049310
Miyoshi myopathy may eventually need wheelchair assistance. db key
html:p Rarely, abnormal heart rhythms (arrhythmias) have developed in people with OMIM 254130
Miyoshi myopathy. Individuals with Miyoshi myopathy have highly elevated levels db key
of an enzyme called creatine kinase (CK) in their blood, which often indicates OMIM 613319
muscle disease. db key
Orphanet 45448
db key
synonym-list db-key-list SNOMED CT 111506000
Moebius syndrome https://ghr.nlm.nih.gov/condition/moebius-syndrome The exact incidence of Moebius syndrome is unknown. Researchers estimate html:p Moebius syndrome is a rare neurological condition that primarily affects the u pattern unknown synonym congenital ophthalmoplegia and facial paresis key 2017-12-29
Moebius症候群 that the condition affects 1 in 50,000 to 1 in 500,000 newborns. muscles that control facial expression and eye movement. The signs and symptoms synonym Mobius syndrome db-key C0221060
of this condition are present from birth. synonym Moebius congenital oculofacial paralysis key
html:p Weakness or paralysis of the facial muscles is one of the most common features synonym Moebius sequence db-key D020331
of Moebius syndrome. Affected individuals lack facial expressions; they cannot synonym Moebius spectrum key
smile, frown, or raise their eyebrows. The muscle weakness also causes problems synonym Möbius sequence db-key 157900
with feeding that become apparent in early infancy. key
html:p Many people with Moebius syndrome are born with a small chin (micrognathia) and db-key 570
a small mouth (microstomia) with a short or unusually shaped tongue. The roof of key
the mouth may have an abnormal opening (cleft palate) or be high and arched. 89444000
These abnormalities contribute to problems with speech, which occur in many
children with Moebius syndrome. Dental abnormalities, including missing and
misaligned teeth, are also common.
html:p Moebius syndrome also affects muscles that control back-and-forth eye movement.
Affected individuals must move their head from side to side to read or follow
the movement of objects. People with this disorder have difficulty making eye
contact, and their eyes may not look in the same direction (strabismus).
Additionally, the eyelids may not close completely when blinking or sleeping,
which can result in dry or irritated eyes.
html:p Other features of Moebius syndrome can include bone abnormalities in the hands
and feet, weak muscle tone (hypotonia), and hearing loss. Affected children
often experience delayed development of motor skills (such as crawling and
walking), although most eventually acquire these skills.
html:p Some research studies have suggested that children with Moebius syndrome are
more likely than unaffected children to have characteristics of autism spectrum
disorders, which are a group of conditions characterized by impaired
communication and social interaction. However, recent studies have questioned
this association. Because people with Moebius syndrome have difficulty with eye
contact and speech due to their physical differences, autism spectrum disorders
can be difficult to diagnose in these individuals. Moebius syndrome may also be
associated with a somewhat increased risk of intellectual disability; however,
most affected individuals have normal intelligence.
related-gene-list
Molybdenum cofactor deficiency https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency Molybdenum cofactor deficiency is a rare condition that is estimated to html:p Molybdenum cofactor deficiency is a rare condition characterized by brain ar autosomal recessive GPHN https://ghr.nlm.nih.gov/gene/GPHN combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde db key 2014-03 2017-12-29
鉬輔酶缺乏症 occur in 1 in 100,000 to 200,000 newborns worldwide. More than 100 cases have dysfunction (encephalopathy) that worsens over time. Babies with this condition related-gene gene-symbol ghr-page oxidase GTR C0268119
been reported in the medical literature, although it is thought that the appear normal at birth, but within a week they have difficulty feeding and MOCS1 https://ghr.nlm.nih.gov/gene/MOCS1 combined molybdoflavoprotein enzyme deficiency db key
condition is underdiagnosed, so the number of affected individuals may be develop seizures that do not improve with treatment (intractable seizures). related-gene gene-symbol ghr-page combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency GTR C1854988
higher. Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to MOCS2 https://ghr.nlm.nih.gov/gene/MOCS2 deficiency of molybdenum cofactor db key
severe developmental delay; affected individuals usually do not learn to sit MOCOD GTR C1854989
unassisted or to speak. A small percentage of affected individuals have an db key
exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud GTR C1854990
noises. Other features of molybdenum cofactor deficiency can include a small db key
head size (microcephaly) and facial features that are described as "coarse." MeSH D020739
html:p Tests reveal that affected individuals have high levels of chemicals called db key
sulfite, S-sulfocysteine, xanthine, and hypoxanthine in the urine and low levels OMIM 252150
of a chemical called uric acid in the blood. db key
html:p Because of the serious health problems caused by molybdenum cofactor deficiency, OMIM 252160
affected individuals usually do not survive past early childhood. db key
OMIM 615501
db key
Orphanet 99732
db key
related-gene-list SNOMED CT 29692004
Monilethrix https://ghr.nlm.nih.gov/condition/monilethrix The prevalence of monilethrix is unknown. html:p Monilethrix is a condition that affects hair growth. Its most characteristic ad autosomal dominant DSG4 https://ghr.nlm.nih.gov/gene/DSG4 beaded hair db key 2012-03 2017-12-29
念珠形髮 feature is that individual strands of hair have a beaded appearance like the code memo related-gene gene-symbol ghr-page GTR C0546966
beads of a necklace. The name monilethrix comes from the Latin word for necklace ar autosomal recessive KRT81 https://ghr.nlm.nih.gov/gene/KRT81 db key
(monile) and the Greek word for hair (thrix). Noticeable when viewed under a related-gene gene-symbol ghr-page MeSH D056734
microscope, the beaded appearance is due to periodic narrowing of the hair KRT83 https://ghr.nlm.nih.gov/gene/KRT83 db key
shaft. People with monilethrix also have sparse hair growth (hypotrichosis) and related-gene gene-symbol ghr-page OMIM 158000
short, brittle hair that breaks easily. KRT86 https://ghr.nlm.nih.gov/gene/KRT86 db key
html:p Affected individuals usually have normal hair at birth, but the hair Orphanet 573
abnormalities develop within the first few months of life. In mild cases of db key
monilethrix, only hair on the back of the head (occiput) or nape of the neck is SNOMED CT 69488000
affected. In more severe cases, hair over the whole scalp can be affected, as
well as pubic hair, underarm hair, eyebrows, eyelashes, or hair on the arms and
legs.
html:p Occasionally, the skin and nails are involved in monilethrix. Some affected
individuals have a skin condition called keratosis pilaris, which causes small
bumps on the skin, especially on the scalp, neck, and arms. Affected individuals
may also have abnormal fingernails or toenails.
related-gene-list
Monoamine oxidase A deficiency https://ghr.nlm.nih.gov/condition/monoamine-oxidase-a-deficiency Monoamine oxidase A deficiency is thought to be very rare. Its prevalence html:p Monoamine oxidase A deficiency is a rare disorder that occurs almost exclusively xr X-linked recessive MAOA https://ghr.nlm.nih.gov/gene/MAOA Brunner syndrome db key 2017-05 2017-12-29
is unknown. in males. It is characterized by mild intellectual disability and behavioral deficiency of monoamine oxidase A GTR C0796275
problems beginning in early childhood. X-linked monoamine oxidase deficiency db key
html:p Most boys with monoamine oxidase A deficiency are less able to control their MeSH D008607
impulses than their peers, causing aggressive or violent outbursts. In addition, db key
affected individuals may have features of other behavioral disorders, including MeSH D040181
autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). db key
These features can include obsessive behaviors, difficulty forming friendships, OMIM 300615
and problems focusing attention. Sleep problems, such as trouble falling asleep db key
or night terrors, can also occur in monoamine oxidase A deficiency. Orphanet 3057
html:p Some people with monoamine oxidase A deficiency have episodes of skin flushing, db key
sweating, headaches, or diarrhea. Similar episodes can occur in female family SNOMED CT 718210003
members of males with monoamine oxidase A deficiency, although females do not
experience other signs or symptoms of the condition.
html:p In some cases, certain foods, such as cheese, appear to worsen symptoms of
monoamine oxidase A deficiency.
related-gene-list
Mosaic variegated aneuploidy syndrome https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome MVA syndrome is a rare condition. Its prevalence is unknown. html:p Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some ar autosomal recessive BUB1B https://ghr.nlm.nih.gov/gene/BUB1B mosaic variegated aneuplody microcephaly syndrome db key 2017-07 2017-12-29
cells in the body have an abnormal number of chromosomes instead of the usual 46 related-gene gene-symbol ghr-page MVA syndrome GTR C1850343
chromosomes, a situation known as aneuploidy. Most commonly, cells have an CEP57 https://ghr.nlm.nih.gov/gene/CEP57 Warburton-Anyane-Yeboa syndrome db key
extra chromosome, which is called trisomy, or are missing a chromosome, which is related-gene gene-symbol ghr-page GTR C3279843
known as monosomy. In MVA syndrome, some cells are aneuploid and others have TRIP13 https://ghr.nlm.nih.gov/gene/TRIP13 db key
the normal number of chromosomes, which is a phenomenon known as mosaicism. MeSH D000782
Typically, at least one-quarter of cells in affected individuals have an db key
abnormal number of chromosomes. Because the additional or missing chromosomes OMIM 257300
vary among the abnormal cells, the aneuploidy is described as variegated. db key
html:p In MVA syndrome, growth before birth is slow (intrauterine growth restriction). OMIM 614114
After birth, affected individuals continue to grow at a slow rate and are db key
shorter than average. In addition, they typically have an unusually small head Orphanet 1052
size (microcephaly). Another common feature of MVA syndrome is an increased risk db key
of developing cancer in childhood. Cancers that occur most frequently in SNOMED CT 700056005
affected individuals include a cancer of muscle tissue called rhabdomyosarcoma,
a form of kidney cancer known as Wilms tumor, and a cancer of the blood-forming
tissue known as leukemia.
html:p Less commonly, people with MVA syndrome have eye abnormalities or distinctive
facial features, such as a broad nasal bridge and low-set ears. Some affected
individuals have brain abnormalities, the most common of which is called
Dandy-Walker malformation. Intellectual disability, seizures, and other health
problems can also occur in people with MVA syndrome.
html:p There are at least three types of MVA syndrome, each with a different genetic
cause. Type 1 is the most common and displays the classic signs and symptoms
described above. Type 2 appears to have slightly different signs and symptoms
than type 1, although the small number of affected individuals makes it
difficult to define its characteristic features. Individuals with MVA syndrome
type 2 grow slowly before and after birth; however, their head size is typically
normal. Some people with MVA syndrome type 2 have unusually short arms.
Individuals with MVA syndrome type 2 do not seem to have an increased risk of
cancer. Another form of MVA syndrome is characterized by a high risk of
developing Wilms tumor. Individuals with this form may also have other signs and
symptoms typical of MVA syndrome type 1.
related-gene-list
Mowat-Wilson syndrome https://ghr.nlm.nih.gov/condition/mowat-wilson-syndrome The prevalence of Mowat-Wilson syndrome is unknown. More than 200 people html:p Mowat-Wilson syndrome is a genetic condition that affects many parts of the ad autosomal dominant ZEB2 https://ghr.nlm.nih.gov/gene/ZEB2 Hirschsprung disease-mental retardation syndrome db key 2015-06 2017-12-29
Mowat-Wilson氏症候群 with this condition have been reported in the medical literature. body. Major signs of this disorder frequently include distinctive facial microcephaly, mental retardation, and distinct facial features, with or without GTR C1856113
features, intellectual disability, delayed development, an intestinal disorder Hirschsprung disease db key
called Hirschsprung disease, and other birth defects. MWS GeneReviews mws
html:p Children with Mowat-Wilson syndrome have a square-shaped face with deep-set, db key
widely spaced eyes. They also have a broad nasal bridge with a rounded nasal MeSH D000015
tip; a prominent and pointed chin; large, flaring eyebrows; and uplifted db key
earlobes with a dimple in the middle. These facial features become more MeSH D006627
distinctive with age, and adults with Mowat-Wilson syndrome have an elongated db key
face with heavy eyebrows and a pronounced chin and jaw. Affected people tend to OMIM 235730
have a smiling, open-mouthed expression, and they typically have friendly and db key
happy personalities. Orphanet 2152
html:p Mowat-Wilson syndrome is often associated with an unusually small head db key
(microcephaly), structural brain abnormalities, and intellectual disability SNOMED CT 703535000
ranging from moderate to severe. Speech is absent or severely impaired, and
affected people may learn to speak only a few words. Many people with this
condition can understand others' speech, however, and some use sign language to
communicate. If speech develops, it is delayed until mid-childhood or later.
Children with Mowat-Wilson syndrome also have delayed development of motor
skills such as sitting, standing, and walking.
html:p More than half of people with Mowat-Wilson syndrome are born with an intestinal
disorder called Hirschsprung disease that causes severe constipation, intestinal
blockage, and enlargement of the colon. Chronic constipation also occurs
frequently in people with Mowat-Wilson syndrome who have not been diagnosed with
Hirschsprung disease.
html:p Other features of Mowat-Wilson syndrome include short stature, seizures, heart
defects, and abnormalities of the urinary tract and genitalia. Less commonly,
this condition also affects the eyes, teeth, hands, and skin coloring
(pigmentation). Although many different medical issues have been associated
with Mowat-Wilson syndrome, not every individual with this condition has all of
these features.
related-gene-list
Moyamoya disease https://ghr.nlm.nih.gov/condition/moyamoya-disease Moyamoya disease was first identified in Japan, where it is most prevalent, html:p Moyamoya disease is a disorder of blood vessels in the brain, specifically the ad autosomal dominant RNF213 https://ghr.nlm.nih.gov/gene/RNF213 cerebrovascular moyamoya disease db key 2017-10 2017-12-29
毛毛樣腦血管疾病 affecting about 5 in 100,000 individuals. The condition is also relatively internal carotid arteries and the arteries that branch from them. These vessels, code memo moya-moya disease GTR C0026654
common in other Asian populations. It is ten times less common in Europe. In the which provide oxygen-rich blood to the brain, narrow over time. Narrowing of u pattern unknown progressive intracranial arterial occlusion db key
United States, Asian Americans are four times more commonly affected than these vessels reduces blood flow in the brain. In an attempt to compensate, new progressive intracranial occlusive arteropathy GTR C1837418
whites. For unknown reasons, moyamoya disease occurs twice as often in females networks of small, fragile blood vessels form. These networks, visualized by a spontaneous occlusion of the Circle of Willis db key
as in males. particular test called an angiogram, resemble puffs of smoke, which is how the GTR C1846689
condition got its name: "moyamoya" is an expression meaning "something hazy like db key
a puff of smoke" in Japanese. GTR C3279690
html:p Moyamoya disease commonly begins either around age 5 or in a person's thirties db key
or forties. A lack of blood supply to the brain leads to several symptoms of the ICD-10-CM I67.5
disorder, including temporary stroke-like episodes (transient ischemic db key
attacks), strokes, and seizures. In addition, the fragile blood vessels that MeSH D009072
grow can develop bulges (aneurysms), or they can break open, leading to bleeding db key
(hemorrhage) in the brain. Affected individuals may develop recurrent OMIM 252350
headaches, involuntary jerking movements (chorea), or a decline in thinking db key
ability. The symptoms of moyamoya disease often worsen over time if the OMIM 607151
condition is not treated. db key
html:p Some people have the blood vessel changes characteristic of moyamoya disease in OMIM 608796
addition to features of another disorder, such as neurofibromatosis type 1, db key
sickle cell disease, or Graves disease. These individuals are said to have OMIM 614042
moyamoya syndrome. db key
Orphanet 2573
db key
inheritance-pattern-list related-gene-list SNOMED CT 69116000
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is html:p html:i ar autosomal recessive ghr-page mitochondrial DNA depletion syndrome 6 db-key db key 2013-01 2017-12-29
-depletion-syndrome thought to be a rare condition. Approximately 30 cases have been described in MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is https://ghr.nlm.nih.gov/gene/MPV17 MPV17-associated hepatocerebral MDS GTR C1850406
the scientific literature, including seven families with Navajo an inherited disorder that can cause liver disease and neurological problems. MTDPS6 db-key db key
neurohepatopathy. Within the Navajo Nation of the southwestern United States, The signs and symptoms of this condition begin in infancy and typically include vomiting, Navajo familial neurogenic arthropathy GeneReviews mpv17-mtdep
Navajo neurohepatopathy is estimated to occur in 1 in 1,600 newborns. diarrhea, and an inability to grow or gain weight at the expected rate (failure to thrive). Navajo neurohepatopathy db-key db key
Many affected infants have a buildup of a chemical called lactic acid in the body (lactic acidosis) Navajo neuropathy MeSH D028361
and low blood sugar (hypoglycemia). Within the first weeks of life, infants develop liver disease NNH db-key db key
that quickly progresses to liver failure. The liver is frequently enlarged (hepatomegaly) and liver OMIM 256810
cells often have a reduced ability to release a digestive fluid called bile (cholestasis). Rarely, db-key db key
affected children develop liver cancer. After the onset of liver disease, many affected infants Orphanet 255229
develop neurological problems, which can include developmental delay, weak muscle tone db-key db key
(hypotonia), and reduced sensation in the limbs (peripheral neuropathy). Individuals with SNOMED CT 237995002
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome typically
survive only into infancy or early childhood.
html:p html:i
MPV17
-related hepatocerebral mitochondrial DNA depletion syndrome. In addition to the
signs and symptoms described above, people with Navajo neurohepatopathy may
have problems with sensing pain that can lead to painless bone fractures and
self-mutilation of the fingers or toes. Individuals with Navajo neurohepatopathy
may lack feeling in the clear front covering of the eye (corneal anesthesia),
which can lead to open sores and scarring on the cornea, resulting in impaired
vision. The cause of these additional features is unknown.
related-gene-list
Muckle-Wells syndrome https://ghr.nlm.nih.gov/condition/muckle-wells-syndrome Muckle-Wells syndrome is a rare disorder. It has been reported in many html:p Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin ad autosomal dominant NLRP3 https://ghr.nlm.nih.gov/gene/NLRP3 familial amyloid nephropathy with urticaria and deafness db key 2008-09 2017-12-29
穆-韦二氏综合征:淀粉样变性-耳聋-荨麻疹-肢痛综合征 regions of the world, but its prevalence is unknown. rash, fever, and joint pain. Progressive hearing loss and kidney damage also MWS GTR C0268390
occur in this disorder. UDA syndrome db key
html:p People with Muckle-Wells syndrome have recurrent "flare-ups" that begin during urticaria-deafness-amyloidosis syndrome MeSH D056587
infancy or early childhood. These episodes may appear to arise spontaneously or db key
be triggered by cold, heat, fatigue, or other stresses. Affected individuals OMIM 191900
typically develop a non-itchy rash, mild to moderate fever, painful and swollen db key
joints, and in some cases redness in the whites of the eyes (conjunctivitis). Orphanet 575
html:p Hearing loss caused by progressive nerve damage (sensorineural deafness) db key
typically becomes apparent during the teenage years. Abnormal deposits of a SNOMED CT 15123008
protein called amyloid (amyloidosis) cause progressive kidney damage in about
one-third of people with Muckle-Wells syndrome; these deposits may also damage
other organs. In addition, pigmented skin lesions may occur in affected
individuals.
related-gene-list
Mucolipidosis II alpha/beta https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta Mucolipidosis II alpha/beta is a rare disorder, although its exact html:p Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively ar autosomal recessive GNPTAB https://ghr.nlm.nih.gov/gene/GNPTAB I-cell disease db key 2015-05 2017-12-29
黏脂質症二型 prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 debilitating disorder that affects many parts of the body. Most affected inclusion cell disease GTR C2673377
I-Cell Disease individuals worldwide. individuals do not survive past early childhood. MLII db key
I-細胞疾病 html:p At birth, children with mucolipidosis II alpha/beta are small and have weak mucolipidosis II GeneReviews ml2
muscle tone (hypotonia) and a weak cry. Affected individuals grow slowly after mucolipidosis type II db key
birth and usually stop growing during the second year of life. Development is ICD-10-CM E77.0
delayed, particularly the development of speech and motor skills such as sitting db key
and standing. MeSH D009081
html:p Children with mucolipidosis II alpha/beta typically have several bone db key
abnormalities, many of which are present at birth. Affected individuals may have OMIM 252500
an abnormally rounded upper back (kyphosis), feet that are abnormally rotated db key
(clubfeet), dislocated hips, unusually shaped long bones, and short hands and Orphanet 576
fingers. People with this condition also have joint deformities (contractures) db key
that significantly affect mobility. Most children with mucolipidosis II SNOMED CT 70199000
alpha/beta do not develop the ability to walk independently. Affected
individuals have dysostosis multiplex, which refers to multiple skeletal
abnormalities seen on x-ray.
html:p Other features of mucolipidosis II alpha/beta include a soft out-pouching around
the belly-button (umbilical hernia) or lower abdomen (inguinal hernia), heart
valve abnormalities, distinctive-looking facial features that are described as
"coarse," and overgrowth of the gums (gingival hypertrophy). Vocal cords can
stiffen, resulting in a hoarse voice. The airway is narrow, which can contribute
to prolonged or recurrent respiratory infections. Affected individuals may also
have recurrent ear infections, which can lead to hearing loss.
related-gene-list
Mucolipidosis III alpha/beta https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta Mucolipidosis III alpha/beta is a rare disorder, although its exact html:p Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. ar autosomal recessive GNPTAB https://ghr.nlm.nih.gov/gene/GNPTAB ML III db key 2014-10 2017-12-29
黏脂質症三型 prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 Signs and symptoms of this condition typically appear around age 3 and worsen ML IIIA GTR C0033788
individuals worldwide. slowly over time. mucolipidosis III db key
html:p Individuals with mucolipidosis III alpha/beta grow slowly and have short mucolipidosis III, variant GeneReviews ml3a
stature. They also have stiff joints and dysostosis multiplex, which refers to mucolipidosis IIIA db key
multiple skeletal abnormalities seen on x-ray. Many affected individuals develop pseudo-Hurler polydystrophy ICD-10-CM E77.0
low bone mineral density (osteoporosis), which weakens the bones and makes them db key
prone to fracture. Osteoporosis and progressive joint problems also cause bone MeSH D009081
pain that becomes more severe over time in people with mucolipidosis III db key
alpha/beta. OMIM 252600
html:p People with mucolipidosis III alpha/beta often have heart valve abnormalities db key
and mild clouding of the clear covering of the eye (cornea). Their facial Orphanet 577
features become slightly thickened or "coarse" over time. Affected individuals db key
may also develop frequent ear and respiratory infections. About half of people SNOMED CT 65764006
with this condition have mild intellectual disability or learning problems.
Individuals with mucolipidosis III alpha/beta generally survive into adulthood,
but they may have a shortened lifespan.
related-gene-list
Mucolipidosis III gamma https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-gamma Mucolipidosis III gamma is a rare disorder, although its exact prevalence html:p Mucolipidosis III gamma is a slowly progressive disorder that affects many parts ar autosomal recessive GNPTG https://ghr.nlm.nih.gov/gene/GNPTG ML IIIC db key 2015-05 2017-12-29
黏脂質症三型 is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 of the body. Signs and symptoms of this condition typically appear around age mucolipidosis III GTR C1854896
individuals worldwide. 3 mucolipidosis III, variant db key
html:p Individuals with mucolipidosis III gamma grow slowly and have short stature. mucolipidosis IIIC GeneReviews ml3c
They also have stiff joints and dysostosis multiplex, which refers to multiple mucolipidosis type III db key
skeletal abnormalities seen on x-ray. Many affected individuals develop low bone pseudo-Hurler polydystrophy ICD-10-CM E77.0
mineral density (osteoporosis), which weakens the bones and makes them prone to db key
fracture. Osteoporosis and progressive joint problems in people with MeSH D009081
mucolipidosis III gamma also cause pain, which becomes more severe over time. db key
html:p People with mucolipidosis III gamma often have heart valve abnormalities and OMIM 252605
mild clouding of the clear covering of the eye (cornea). Their facial features db key
become slightly thickened or "coarse" as they get older. A small percentage of Orphanet 577
people with this condition have mild intellectual disability or learning db key
problems. Individuals with mucolipidosis III gamma generally survive into SNOMED CT 65764006
adulthood, but they may have a shortened lifespan.
related-gene-list
Mucolipidosis type IV https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 html:p Mucolipidosis type IV is an inherited disorder characterized by delayed ar autosomal recessive MCOLN1 https://ghr.nlm.nih.gov/gene/MCOLN1 ganglioside sialidase deficiency db key 2013-08 2017-12-29
percent of affected individuals have Ashkenazi Jewish ancestry. development and vision impairment that worsens over time. The severe form of the ML4 GTR C0238286
disorder is called typical mucolipidosis type IV, and the mild form is called MLIV db key
atypical mucolipidosis type IV. sialolipidosis GeneReviews ml4
html:p Approximately 95 percent of individuals with this condition have the severe db key
form. People with typical mucolipidosis type IV have delayed development of ICD-10-CM E75.11
mental and motor skills (psychomotor delay). Motor skills include sitting, db key
standing, walking, grasping objects, and writing. Psychomotor delay is moderate MeSH D009081
to severe and usually becomes apparent during the first year of life. Affected db key
individuals have intellectual disability, limited or absent speech, difficulty OMIM 252650
chewing and swallowing, weak muscle tone (hypotonia) that gradually turns into db key
abnormal muscle stiffness (spasticity), and problems controlling hand movements. Orphanet 578
Most people with typical mucolipidosis type IV are unable to walk db key
independently. In about 15 percent of affected individuals, the psychomotor SNOMED CT 111384001
problems worsen over time.
html:p Vision may be normal at birth in people with typical mucolipidosis type IV, but
it becomes increasingly impaired during the first decade of life. Individuals
with this condition develop clouding of the clear covering of the eye (cornea)
and progressive breakdown of the light-sensitive layer at the back of the eye
(retina). By their early teens, affected individuals have severe vision loss or
blindness.
html:p People with typical mucolipidosis type IV also have impaired production of
stomach acid (achlorhydria). Achlorhydria does not cause any symptoms in these
individuals, but it does result in unusually high levels of gastrin in the
blood. Gastrin is a hormone that regulates the production of stomach acid.
Individuals with mucolipidosis type IV may not have enough iron in their blood,
which can lead to a shortage of red blood cells (anemia). People with the severe
form of this disorder usually survive to adulthood; however, they may have a
shortened lifespan.
html:p About 5 percent of affected individuals have atypical mucolipidosis type IV.
These individuals usually have mild psychomotor delay and may develop the
ability to walk. People with atypical mucolipidosis type IV tend to have milder
eye abnormalities than those with the severe form of the disorder. Achlorhydria
also may be present in mildly affected individuals.
related-gene-list
Mucopolysaccharidosis type I https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-i Severe MPS I occurs in approximately 1 in 100,000 newborns. Attenuated MPS html:p Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of ar autosomal recessive IDUA https://ghr.nlm.nih.gov/gene/IDUA Hurler-Scheie syndrome db key 2012-12 2017-12-29
黏多醣症一型 I is less common and occurs in about 1 in 500,000 newborns. the body. This disorder was once divided into three separate syndromes: Hurler Hurler syndrome GTR C0023786
黏多醣儲積症一型 syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS IDUA deficiency db key
Hurler syndrome I-S), listed from most to least severe. Because there is so much overlap MPS I GeneReviews mps1
賀勒氏症 between each of these three syndromes, MPS I is currently divided into the MPS I H db key
severe and attenuated types. MPS I H-S ICD-10-CM E76.0
html:p Children with MPS I often have no signs or symptoms of the condition at birth, MPS I S db key
although some have a soft out-pouching around the belly-button (umbilical mucopolysaccharidosis I ICD-10-CM E76.01
hernia) or lower abdomen (inguinal hernia). People with severe MPS I generally Scheie syndrome db key
begin to show other signs and symptoms of the disorder within the first year of ICD-10-CM E76.02
life, while those with the attenuated form have milder features that develop db key
later in childhood. ICD-10-CM E76.03
html:p Individuals with MPS I may have a large head (macrocephaly), a buildup of fluid db key
in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking MeSH D008059
facial features that are described as "coarse," an enlarged liver and spleen db key
(hepatosplenomegaly), and a large tongue (macroglossia). Vocal cords can also OMIM 607014
enlarge, resulting in a deep, hoarse voice. The airway may become narrow in some db key
people with MPS I, causing frequent upper respiratory infections and short OMIM 607015
pauses in breathing during sleep (sleep apnea). db key
html:p People with MPS I often develop clouding of the clear covering of the eye OMIM 607016
(cornea), which can cause significant vision loss. Affected individuals may also db key
have hearing loss and recurrent ear infections. Orphanet 579
html:p Some individuals with MPS I have short stature and joint deformities db key
(contractures) that affect mobility. Most people with the severe form of the SNOMED CT 26745009
disorder also have dysostosis multiplex, which refers to multiple skeletal db key
abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children SNOMED CT 73123008
with this disorder and is characterized by numbness, tingling, and weakness in db key
the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the SNOMED CT 75610003
neck can compress and damage the spinal cord.
html:p While both forms of MPS I can affect many different organs and tissues, people
with severe MPS I experience a decline in intellectual function and a more rapid
disease progression. Developmental delay is usually present by age 1, and
severely affected individuals eventually lose basic functional skills
(developmentally regress). Children with this form of the disorder usually have
a shortened lifespan, sometimes living only into late childhood. Individuals
with attenuated MPS I typically live into adulthood and may or may not have a
shortened lifespan. Some people with the attenuated type have learning
disabilities, while others have no intellectual impairments. Heart disease and
airway obstruction are major causes of death in people with both types of MPS I.
related-gene-list
Mucopolysaccharidosis type II https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males. html:p Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a xr X-linked recessive IDS https://ghr.nlm.nih.gov/gene/IDS Hunter Syndrome db key 2008-12 2017-12-29
黏多醣症第二型 condition that affects many different parts of the body and occurs almost I2S deficiency GTR C0026705
Hunter exclusively in males. It is a progressively debilitating disorder; however, the Iduronate 2-sulfatase deficiency db key
韓特氏症 rate of progression varies among affected individuals. MPS II GeneReviews hunter
html:p At birth, individuals with MPS II do not display any features of the condition. db key
Between ages 2 and 4, they develop full lips, large rounded cheeks, a broad ICD-10-CM E76.1
nose, and an enlarged tongue (macroglossia). The vocal cords also enlarge, which db key
results in a deep, hoarse voice. Narrowing of the airway causes frequent upper MeSH D016532
respiratory infections and short pauses in breathing during sleep (sleep apnea). db key
As the disorder progresses, individuals need medical assistance to keep their OMIM 309900
airway open. db key
html:p Many other organs and tissues are affected in MPS II. Individuals with this Orphanet 580
disorder often have a large head (macrocephaly), a buildup of fluid in the brain db key
(hydrocephalus), an enlarged liver and spleen (hepatosplenomegaly), and a soft SNOMED CT 5667009
out-pouching around the belly-button (umbilical hernia) or lower abdomen db key
(inguinal hernia). People with MPS II usually have thick skin that is not very SNOMED CT 70737009
stretchy. Some affected individuals also have distinctive white skin growths db key
that look like pebbles. Most people with this disorder develop hearing loss and SNOMED CT 73146005
have recurrent ear infections. Some individuals with MPS II develop problems
with the light-sensitive tissue in the back of the eye (retina) and have reduced
vision. Carpal tunnel syndrome commonly occurs in children with this disorder
and is characterized by numbness, tingling, and weakness in the hand and
fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can
compress and damage the spinal cord. The heart is also significantly affected by
MPS II, and many individuals develop heart valve problems. Heart valve
abnormalities can cause the heart to become enlarged (ventricular hypertrophy)
and can eventually lead to heart failure.
html:p Children with MPS II grow steadily until about age 5, and then their growth
slows and they develop short stature. Individuals with this condition have joint
deformities (contractures) that significantly affect mobility. Most people with
MPS II also have dysostosis multiplex, which refers to multiple skeletal
abnormalities seen on x-ray. Dysostosis multiplex includes a generalized
thickening of most long bones, particularly the ribs.
html:p There are two types of MPS II, called the severe and mild types. While both
types affect many different organs and tissues as described above, people with
severe MPS II also experience a decline in intellectual function and a more
rapid disease progression. Individuals with the severe form begin to lose basic
functional skills (developmentally regress) between the ages of 6 and 8. The
life expectancy of these individuals is 10 to 20 years. Individuals with mild
MPS II also have a shortened lifespan, but they typically live into adulthood
and their intelligence is not affected. Heart disease and airway obstruction are
major causes of death in people with both types of MPS II.
related-gene-list
Mucopolysaccharidosis type III https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii MPS III is the most common form of mucopolysaccharidosis; the estimated html:p Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is ar autosomal recessive GNS https://ghr.nlm.nih.gov/gene/GNS MPS III db key 2017-03 2017-12-29
黏多醣症第三型 incidence of all four types combined is 1 in 70,000 newborns. MPS IIIA and MPS a progressive disorder that primarily affects the brain and spinal cord (central related-gene gene-symbol ghr-page mucopolysaccharidosis III GTR C0086647
Sanfilippo syndrome IIIB are much more common than MPS IIIC and MPS IIID. nervous system). Other body systems can also be involved. HGSNAT https://ghr.nlm.nih.gov/gene/HGSNAT Sanfilippo syndrome db key
聖菲利柏氏症A型 html:p People with MPS III generally do not display any features of the condition at related-gene gene-symbol ghr-page GTR C0086648
birth, but they begin to show signs and symptoms of the disorder during early NAGLU https://ghr.nlm.nih.gov/gene/NAGLU db key
childhood. Affected children often initially have delayed speech and behavior related-gene gene-symbol ghr-page GTR C0086649
problems. They may become restless, destructive, anxious, or aggressive, and SGSH https://ghr.nlm.nih.gov/gene/SGSH db key
some display features of autism spectrum disorder, which is a condition GTR C0086650
characterized by difficulty with social interactions and communication. Sleep db key
disturbances are also very common in children with MPS III. This condition ICD-10-CM E76.22
causes progressive intellectual disability and the loss of previously acquired db key
skills (developmental regression). In later stages of the disorder, people with MeSH D009084
MPS III may develop seizures and movement disorders. db key
html:p The physical features of MPS III are less pronounced than those of other types OMIM 252900
of mucopolysaccharidosis. Individuals with MPS III typically have mildly db key
"coarse" facial features, a large head (macrocephaly), a slightly enlarged liver OMIM 252920
(mild hepatomegaly), and a soft out-pouching around the belly-button (umbilical db key
hernia) or lower abdomen (inguinal hernia). Some people with MPS III have short OMIM 252930
stature, joint stiffness, or mild dysostosis multiplex, which refers to db key
multiple skeletal abnormalities seen on x-ray. Affected individuals often OMIM 252940
experience chronic diarrhea and recurrent upper respiratory and ear infections. db key
People with MPS III may also have hearing loss and vision problems. Orphanet 581
html:p MPS III is divided into types IIIA, IIIB, IIIC, and IIID, which are db key
distinguished by their genetic cause. The different types of MPS III have SNOMED CT 15892005
similar signs and symptoms, although the features of MPS IIIA typically appear db key
earlier in life and progress more rapidly. People with MPS III usually live into SNOMED CT 41572006
adolescence or early adulthood. db key
SNOMED CT 59990008
db key
SNOMED CT 75238000
db key
related-gene-list SNOMED CT 88393000
Mucopolysaccharidosis type IV https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv The exact prevalence of MPS IV is unknown, although it is estimated to html:p Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a ar autosomal recessive GALNS https://ghr.nlm.nih.gov/gene/GALNS Morquio-Brailsford disease db key 2010-07 2017-12-29
occur in 1 in 200,000 to 300,000 individuals. progressive condition that mainly affects the skeleton. The rate at which related-gene gene-symbol ghr-page Morquio Disease GTR C0026707
symptoms worsen varies among affected individuals. GLB1 https://ghr.nlm.nih.gov/gene/GLB1 Morquio Syndrome db key
html:p The first signs and symptoms of MPS IV usually become apparent during early Morquio's Disease GTR C0086651
childhood. Affected individuals develop various skeletal abnormalities, Morquio's Syndrome db key
including short stature, knock knees, and abnormalities of the ribs, chest, MPS IV GTR C0086652
spine, hips, and wrists. People with MPS IV often have joints that are loose and mucopolysaccharidosis (MPS) IV (A, B) db key
very flexible (hypermobile), but they may also have restricted movement in ICD-10-CM E76.21
certain joints. A characteristic feature of this condition is underdevelopment db key
(hypoplasia) of a peg-like bone in the neck called the odontoid process. The ICD-10-CM E76.210
odontoid process helps stabilize the spinal bones in the neck (cervical db key
vertebrae). Odontoid hypoplasia can lead to misalignment of the cervical ICD-10-CM E76.211
vertebrae, which may compress and damage the spinal cord, resulting in paralysis db key
or death. ICD-10-CM E76.219
html:p In people with MPS IV, the clear covering of the eye (cornea) typically becomes db key
cloudy, which can cause vision loss. Some affected individuals have recurrent MeSH D009085
ear infections and hearing loss. The airway may become narrow in some people db key
with MPS IV, leading to frequent upper respiratory infections and short pauses OMIM 253000
in breathing during sleep (sleep apnea). Other common features of this condition db key
include mildly "coarse" facial features, thin tooth enamel, multiple cavities, OMIM 253010
heart valve abnormalities, a mildly enlarged liver (hepatomegaly), and a soft db key
out-pouching around the belly-button (umbilical hernia) or lower abdomen Orphanet 582
(inguinal hernia). Unlike some other types of mucopolysaccharidosis, MPS IV does db key
not affect intelligence. SNOMED CT 130197005
html:p The life expectancy of individuals with MPS IV depends on the severity of db key
symptoms. Severely affected individuals may survive only until late childhood or SNOMED CT 238044004
adolescence. Those with milder forms of the disorder usually live into db key
adulthood, although their life expectancy may be reduced. Spinal cord SNOMED CT 378007
compression and airway obstruction are major causes of death in people with MPS db key
IV. SNOMED CT 7259005
黏多醣症第四型患者，自小骨骼發育不正常，比同齡小朋友矮一個頭，手腳不夠力
related-gene-list
Mucopolysaccharidosis type VI https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi The exact incidence of MPS VI is unknown, although it is estimated to occur html:p Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, ar autosomal recessive ARSB https://ghr.nlm.nih.gov/gene/ARSB Arylsulfatase B deficiency db key 2010-06 2017-12-29
黏多醣症第六型 in 1 in 250,000 to 600,000 newborns. is a progressive condition that causes many tissues and organs to enlarge and Maroteaux-Lamy Syndrome GTR C0026709
Maroteaux-Lamy syndrome become inflamed or scarred. Skeletal abnormalities are also common in this MPS VI db key
馬洛托－拉米氏症 condition. The rate at which symptoms worsen varies among affected individuals. MPS6 MeSH D009087
html:p People with MPS VI generally do not display any features of the condition at Mucopolysaccharidosis 6 db key
birth. They often begin to show signs and symptoms of MPS VI during early Mucopolysaccharidosis VI OMIM 253200
childhood. The features of MPS VI include a large head (macrocephaly), a buildup Polydystrophic Dwarfism db key
of fluid in the brain (hydrocephalus), distinctive-looking facial features that Orphanet 583
are described as "coarse," and a large tongue (macroglossia). Affected db key
individuals also frequently develop heart valve abnormalities, an enlarged liver SNOMED CT 52677002
and spleen (hepatosplenomegaly), and a soft out-pouching around the
belly-button (umbilical hernia) or lower abdomen (inguinal hernia). The airway
may become narrow in some people with MPS VI, leading to frequent upper
respiratory infections and short pauses in breathing during sleep (sleep apnea).
The clear covering of the eye (cornea) typically becomes cloudy, which can
cause significant vision loss. People with MPS VI may also have recurrent ear
infections and hearing loss. Unlike other types of mucopolysaccharidosis, MPS VI
does not affect intelligence.
html:p MPS VI causes various skeletal abnormalities, including short stature and joint
deformities (contractures) that affect mobility. Individuals with this condition
may also have dysostosis multiplex, which refers to multiple skeletal
abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children
with MPS VI and is characterized by numbness, tingling, and weakness in the
hands and fingers. People with MPS VI may develop a narrowing of the spinal
canal (spinal stenosis) in the neck, which can compress and damage the spinal
cord.
html:p The life expectancy of individuals with MPS VI depends on the severity of
symptoms. Without treatment, severely affected individuals may survive only
until late childhood or adolescence. Those with milder forms of the disorder
usually live into adulthood, although their life expectancy may be reduced.
Heart disease and airway obstruction are major causes of death in people with
MPS VI.
related-gene-list
Mucopolysaccharidosis type VII https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii The exact incidence of MPS VII is unknown, although it is estimated to html:p Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a ar autosomal recessive GUSB https://ghr.nlm.nih.gov/gene/GUSB beta-glucuronidase deficiency db key 2010-08 2017-12-29
occur in 1 in 250,000 newborns. It is one of the rarest types of progressive condition that affects most tissues and organs. The severity of MPS GUSB deficiency GTR C0085132
mucopolysaccharidosis. VII varies widely among affected individuals. MPS VII db key
html:p The most severe cases of MPS VII are characterized by hydrops fetalis, a MPS7 MeSH D016538
condition in which excess fluid builds up in the body before birth. Most babies Mucopolysaccharidosis 7 db key
with hydrops fetalis are stillborn or die soon after birth. Other people with Mucopolysaccharidosis VII OMIM 253220
MPS VII typically begin to show signs and symptoms of the condition during early Sly Syndrome db key
childhood. The features of MPS VII include a large head (macrocephaly), a Orphanet 584
buildup of fluid in the brain (hydrocephalus), distinctive-looking facial db key
features that are described as "coarse," and a large tongue (macroglossia). SNOMED CT 124470009
Affected individuals also frequently develop an enlarged liver and spleen db key
(hepatosplenomegaly), heart valve abnormalities, and a soft out-pouching around SNOMED CT 43916004
the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). The
airway may become narrow in some people with MPS VII, leading to frequent upper
respiratory infections and short pauses in breathing during sleep (sleep apnea).
The clear covering of the eye (cornea) becomes cloudy, which can cause
significant vision loss. People with MPS VII may also have recurrent ear
infections and hearing loss. Affected individuals may have developmental delay
and progressive intellectual disability, although intelligence is unaffected in
some people with this condition.
html:p MPS VII causes various skeletal abnormalities that become more pronounced with
age, including short stature and joint deformities (contractures) that affect
mobility. Individuals with this condition may also have dysostosis multiplex,
which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel
syndrome develops in many children with MPS VII and is characterized by
numbness, tingling, and weakness in the hands and fingers. People with MPS VII
may develop a narrowing of the spinal canal (spinal stenosis) in the neck, which
can compress and damage the spinal cord.
html:p The life expectancy of individuals with MPS VII depends on the severity of
symptoms. Some affected individuals do not survive infancy, while others may
live into adolescence or adulthood. Heart disease and airway obstruction are
major causes of death in people with MPS VII.
related-gene-list
Muenke syndrome https://ghr.nlm.nih.gov/condition/muenke-syndrome Muenke syndrome occurs in about 1 in 30,000 newborns. This condition html:p Muenke syndrome is a condition characterized by the premature closure of certain ad autosomal dominant FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 FGFR3-associated coronal synostosis db key 2006-06 2017-12-29
Muenke綜合徵 accounts for an estimated 8 percent of all cases of craniosynostosis. bones of the skull (craniosynostosis) during development, which affects the Muenke nonsyndromic coronal craniosynostosis GTR C1864436
shape of the head and face. db key
html:p Many people with this disorder have a premature fusion of skull bones along the GeneReviews craniosynostosis
coronal suture, the growth line which goes over the head from ear to ear. Other db key
parts of the skull may be malformed as well. These changes can result in an GeneReviews muenke
abnormally shaped head, wide-set eyes, and flattened cheekbones. About 5 percent db key
of affected individuals have an enlarged head (macrocephaly). People with MeSH D003398
Muenke syndrome may also have mild abnormalities of the hands or feet, and db key
hearing loss has been observed in some cases. Most people with this condition OMIM 602849
have normal intellect, but developmental delay and learning disabilities are db key
possible. Orphanet 53271
html:p The signs and symptoms of Muenke syndrome vary among affected people, and some db key
findings overlap with those seen in other craniosynostosis syndromes. Between 6 SNOMED CT 440350001
percent and 7 percent of people with the gene mutation associated with Muenke
syndrome do not have any of the characteristic features of the disorder.
related-gene-list
Müllerian aplasia and hyperandrogenism https://ghr.nlm.nih.gov/condition/mullerian-aplasia-and-hyperandrogenism Müllerian aplasia and hyperandrogenism is a very rare disorder; it has been html:p Müllerian aplasia and hyperandrogenism is a condition that affects the ad autosomal dominant WNT4 https://ghr.nlm.nih.gov/gene/WNT4 Biason-Lauber syndrome db key 2014-07 2017-12-29
Müllerian發育不全和雄激素過多症 identified in only a few individuals worldwide. reproductive system in females. This condition is caused by abnormal development Mayer-Rokitansky-Küster-Hauser-Biason-Lauber syndrome GTR C2675014
of the Müllerian ducts, which are structures in the embryo that develop into Mayer-Rokitansky-Küster-Hauser-like syndrome db key
the uterus, fallopian tubes, cervix, and the upper part of the vagina. Mullerian aplasia and hyperandrogenism MeSH D058489
Individuals with Müllerian aplasia and hyperandrogenism typically have an Müllerian duct failure db key
underdeveloped or absent uterus and may also have abnormalities of other WNT4 deficiency OMIM 158330
reproductive organs. Women with this condition have normal female external WNT4 Müllerian aplasia db key
genitalia, and they develop breasts and pubic hair normally at puberty; however, WNT4 Müllerian aplasia and ovarian dysfunction Orphanet 247768
they do not begin menstruation by age 16 (primary amenorrhea) and will likely db key
never have a menstrual period. Affected women are unable to have children SNOMED CT 699275001
(infertile).
html:p Women with Müllerian aplasia and hyperandrogenism have higher-than-normal levels
of male sex hormones called androgens in their blood (hyperandrogenism), which
can cause acne and excessive facial hair (facial hirsutism). Kidney
abnormalities may be present in some affected individuals.
related-gene-list
Multicentric osteolysis, nodulosis, and arthropathy https://ghr.nlm.nih.gov/condition/multicentric-osteolysis-nodulosis-and-arthropa MONA is rare; its prevalence is unknown. This condition has been reported html:p Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare ar autosomal recessive MMP2 https://ghr.nlm.nih.gov/gene/MMP2 Al-Aqeel Sewairi syndrome db key 2013-11 2017-12-29
thy in multiple populations worldwide. inherited disease characterized by a loss of bone tissue (osteolysis), hereditary multicentric osteolysis GTR C1850155
particularly in the hands and feet. MONA includes a condition formerly called MONA db key
nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar NAO syndrome GTR CN239151
disorder called Torg syndrome, although it is unknown whether Torg syndrome is nodulosis-arthropathy-osteolysis syndrome db key
actually part of MONA or a separate disorder caused by a mutation in a different Torg syndrome GeneReviews mona
gene. Torg-Winchester syndrome db key
html:p In most cases of MONA, bone loss begins in the hands and feet, causing pain and MeSH D010014
limiting movement. Bone abnormalities can later spread to other areas of the db key
body, with joint problems (arthropathy) occurring in the elbows, shoulders, OMIM 259600
knees, hips, and spine. Most people with MONA develop low bone mineral density db key
(osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. Orphanet 3460
These abnormalities make bones brittle and more prone to fracture. The bone db key
abnormalities also lead to short stature. Orphanet 85196
html:p Many affected individuals develop subcutaneous nodules, which are firm lumps of db key
noncancerous tissue underneath the skin, especially on the soles of the feet. SNOMED CT 254151006
Some affected individuals also have skin abnormalities including patches of db key
dark, thick, and leathery skin. Other features of MONA can include clouding of SNOMED CT 254152004
the clear front covering of the eye (corneal opacity), excess hair growth
(hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive
facial features that are described as "coarse."
related-gene-list
Multiminicore disease https://ghr.nlm.nih.gov/condition/multiminicore-disease Multiminicore disease is thought to be a rare disorder, although its html:p Multiminicore disease is a disorder that primarily affects muscles used for ar autosomal recessive RYR1 https://ghr.nlm.nih.gov/gene/RYR1 Minicore disease db key 2007-10 2017-12-29
多微小軸空肌病 incidence is unknown. movement (skeletal muscles). This condition causes muscle weakness and related related-gene gene-symbol ghr-page Minicore myopathy GTR C1843691
health problems that range from mild to life-threatening. SELENON https://ghr.nlm.nih.gov/gene/SELENON MmD db key
html:p Researchers have identified at least four forms of multiminicore disease, which Multi-minicore disease GTR C1850674
can be distinguished by their characteristic signs and symptoms. The most Multicore disease db key
common form, called the classic form, causes muscle weakness beginning in Multicore myopathy GTR C2673970
infancy or early childhood. This weakness is most noticeable in muscles of the Multiminicore myopathy db key
trunk and neck (axial muscles) and is less severe in the arm and leg muscles. GTR CN221543
Muscle weakness causes affected infants to appear "floppy" (hypotonic) and can db key
delay the development of motor skills such as sitting, standing, and walking. GTR CN221587
The disease causes muscles of the ribcage and spine to stiffen. When combined db key
with weakness of the muscles needed for breathing, this stiffness leads to GeneReviews mmd
severe or life-threatening respiratory problems. Almost all children with db key
multiminicore disease develop an abnormal curvature of the spine (scoliosis), MeSH D009135
which appears during childhood and steadily worsens over time. db key
html:p Other forms of multiminicore disease have different patterns of signs and OMIM 255320
symptoms. They are less common than the classic form, together accounting for db key
about 25 percent of all cases. The atypical forms of the condition tend to be OMIM 602771
milder and cause few or no problems with breathing. The moderate form with hand db key
involvement causes muscle weakness and looseness of the joints, particularly in Orphanet 598
the arms and hands. Another form of multiminicore disease, known as the db key
antenatal form with arthrogryposis, is characterized by stiff, rigid joints SNOMED CT 55133004
throughout the body (arthrogryposis), distinctive facial features, and other
birth defects. Paralysis of the eye muscles (external ophthalmoplegia) is a
primary feature of another atypical form of multiminicore disease. This form of
the condition also causes general muscle weakness and feeding difficulties that
appear in the first year of life.
html:p Many people with multiminicore disease also have an increased risk of a
developing a severe reaction to certain drugs used during surgery and other
invasive procedures. This reaction is called malignant hyperthermia. Malignant
hyperthermia occurs in response to some anesthetic gases, which are used to
block the sensation of pain, and with a particular type of muscle relaxant. If
given these drugs, people at risk for malignant hyperthermia may experience
muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever,
increased acid levels in the blood and other tissues (acidosis), and a rapid
heart rate. The complications of malignant hyperthermia can be life-threatening
unless they are treated promptly.
html:p Multiminicore disease gets its name from small, disorganized areas called
minicores, which are found in muscle fibers of many affected individuals. These
abnormal regions can only be seen under a microscope. Although the presence of
minicores can help doctors diagnose multiminicore disease, it is unclear how
they are related to muscle weakness and the other features of this condition.
Multiple Acyl-CoA Dehydrogenase Deficiency, MADD
多發性醯基輔酶A去氫酶缺乏
Multiple carboxylase deficiency
多發性羧化酶缺乏症 (多發性生物素輔酶酵素缺乏症)
related-gene-list
Multiple cutaneous and mucosal venous malformations https://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malforma VMCM appears to be a rare disorder, although its prevalence is unknown. html:p Multiple cutaneous and mucosal venous malformations (also known as VMCM) are ad autosomal dominant TEK https://ghr.nlm.nih.gov/gene/TEK mucocutaneous venous malformations db key 2009-08 2017-12-29
tions bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such VMCM GTR C1838437
as the lining of the mouth and nose. These lesions represent areas where the VMCM1 db key
underlying veins and other blood vessels did not develop properly (venous GeneReviews vmcm
malformations). The lesions can be painful, especially when they extend from db key
the skin into the muscles and joints, or when a calcium deposit forms within the MeSH D017445
lesion causing inflammation and swelling. db key
html:p Most people with VMCM are born with at least one venous malformation. As OMIM 600195
affected individuals age, the lesions present from birth usually become larger db key
and new lesions often appear. The size, number, and location of venous Orphanet 2451
malformations vary among affected individuals, even among members of the same db key
family. SNOMED CT 699301008
related-gene-list
Multiple endocrine neoplasia https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people; html:p Multiple endocrine neoplasia is a group of disorders that affect the body's ad autosomal dominant CDKN1B https://ghr.nlm.nih.gov/gene/CDKN1B adenomatosis, familial endocrine db key 2017-03 2017-12-29
多發性內分泌腫瘤 multiple endocrine neoplasia type 2 affects an estimated 1 in 35,000 people. network of hormone-producing glands called the endocrine system. Hormones are related-gene gene-symbol ghr-page endocrine neoplasia, multiple GTR C0025267
(Cancer) Among the subtypes of type 2, type 2A is the most common form, followed by FMTC. chemical messengers that travel through the bloodstream and regulate the MEN1 https://ghr.nlm.nih.gov/gene/MEN1 familial endocrine adenomatosis db key
Type 2B is relatively uncommon, accounting for about 5 percent of all cases of function of cells and tissues throughout the body. Multiple endocrine neoplasia related-gene gene-symbol ghr-page MEA GTR C0025268
type 2. The prevalence of multiple endocrine neoplasia type 4 is unknown, typically involves tumors (neoplasia) in at least two endocrine glands; tumors RET https://ghr.nlm.nih.gov/gene/RET MEN db key
although the condition appears to be rare. can also develop in other organs and tissues. These growths can be noncancerous multiple endocrine adenomatosis GTR C0025269
(benign) or cancerous (malignant). If the tumors become cancerous, the condition multiple endocrine neoplasms db key
can be life-threatening. GTR C1833921
html:p The major forms of multiple endocrine neoplasia are called type 1, type 2, and db key
type 4. These types are distinguished by the genes involved, the types of GTR C1970712
hormones made, and the characteristic signs and symptoms. db key
html:p Many different types of tumors are associated with multiple endocrine neoplasia. GeneReviews men1
Type 1 frequently involves tumors of the parathyroid glands, the pituitary db key
gland, and the pancreas. Tumors in these glands can lead to the overproduction GeneReviews men2
of hormones. The most common sign of multiple endocrine neoplasia type 1 is db key
overactivity of the parathyroid glands (hyperparathyroidism). ICD-10-CM E31.2
Hyperparathyroidism disrupts the normal balance of calcium in the blood, which db key
can lead to kidney stones, thinning of bones, nausea and vomiting, high blood ICD-10-CM E31.20
pressure (hypertension), weakness, and fatigue. db key
html:p The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid ICD-10-CM E31.21
cancer called medullary thyroid carcinoma. Some people with this disorder also db key
develop a pheochromocytoma, which is an adrenal gland tumor that can cause ICD-10-CM E31.22
dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided db key
into three subtypes: type 2A, type 2B (formerly called type 3), and familial ICD-10-CM E31.23
medullary thyroid carcinoma (FMTC). These subtypes differ in their db key
characteristic signs and symptoms and risk of specific tumors; for example, ICD-10-CM Z15.81
hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is db key
the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia ICD-10-CM Z83.41
type 2 are relatively consistent within any one family. db key
html:p Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar MeSH D009377
to those of type 1, although it is caused by mutations in a different gene. db key
Hyperparathyroidism is the most common feature, followed by tumors of the OMIM 131100
pituitary gland, additional endocrine glands, and other organs. db key
OMIM 155240
db key
OMIM 162300
db key
OMIM 171400
db key
OMIM 610755
db key
Orphanet 652
db key
Orphanet 653
db key
Orphanet 247698
db key
Orphanet 247709
db key
Orphanet 276152
db key
Orphanet 276161
db key
SNOMED CT 30664006
db key
SNOMED CT 46724008
db key
SNOMED CT 61530001
db key
related-gene-list SNOMED CT 61808009
Multiple epiphyseal dysplasia https://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia The incidence of dominant multiple epiphyseal dysplasia is estimated to be html:p Multiple epiphyseal dysplasia is a disorder of cartilage and bone development ad autosomal dominant COL9A1 https://ghr.nlm.nih.gov/gene/COL9A1 EDM1 db key 2014-11 2017-12-29
多发性骨骺发育不全症 at least 1 in 10,000 newborns. The incidence of recessive multiple epiphyseal primarily affecting the ends of the long bones in the arms and legs (epiphyses). code memo related-gene gene-symbol ghr-page EDM2 GTR C1832998
多發性骨骺發育不全 dysplasia is unknown. Both forms of this disorder may actually be more common There are two types of multiple epiphyseal dysplasia, which can be ar autosomal recessive COL9A2 https://ghr.nlm.nih.gov/gene/COL9A2 EDM3 db key
because some people with mild symptoms are never diagnosed. distinguished by their pattern of inheritance. Both the dominant and recessive related-gene gene-symbol ghr-page EDM4 GTR C1838280
types have relatively mild signs and symptoms, including joint pain that most COL9A3 https://ghr.nlm.nih.gov/gene/COL9A3 EDM5 db key
commonly affects the hips and knees, early-onset arthritis, and a waddling walk. related-gene gene-symbol ghr-page epiphyseal dysplasia, Fairbank type GTR C1838429
Although some people with multiple epiphyseal dysplasia have mild short stature COMP https://ghr.nlm.nih.gov/gene/COMP epiphyseal dysplasia, multiple, 1 db key
as adults, most are of normal height. The majority of individuals are diagnosed related-gene gene-symbol ghr-page epiphyseal dysplasia, multiple, 2 GTR C1846843
during childhood; however, some mild cases may not be diagnosed until MATN3 https://ghr.nlm.nih.gov/gene/MATN3 epiphyseal dysplasia, multiple, 3 db key
adulthood. related-gene gene-symbol ghr-page epiphyseal dysplasia, multiple, 4 GTR C1847593
html:p Recessive multiple epiphyseal dysplasia is distinguished from the dominant type SLC26A2 https://ghr.nlm.nih.gov/gene/SLC26A2 epiphyseal dysplasia, multiple, 5 db key
by malformations of the hands, feet, and knees and abnormal curvature of the epiphyseal dysplasia, Ribbing type GTR C2675767
spine (scoliosis). About 50 percent of individuals with recessive multiple MED db key
epiphyseal dysplasia are born with at least one abnormal feature, including an multiple epiphyseal dysplasia, autosomal dominant GeneReviews edm
inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth multiple epiphyseal dysplasia, autosomal recessive db key
(cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear rMED GeneReviews edm-ad
swelling. An abnormality of the kneecap called a double-layered patella is also db key
relatively common. MeSH D010009
db key
OMIM 120210
db key
OMIM 132400
db key
OMIM 226900
db key
OMIM 600204
db key
OMIM 600969
db key
OMIM 607078
db key
Orphanet 251
db key
SNOMED CT 313339007
db key
related-gene-list SNOMED CT 59708000
Multiple familial trichoepithelioma https://ghr.nlm.nih.gov/condition/multiple-familial-trichoepithelioma Multiple familial trichoepithelioma is a rare disorder; its prevalence is html:p Multiple familial trichoepithelioma is a condition involving multiple skin ad autosomal dominant CYLD https://ghr.nlm.nih.gov/gene/CYLD Brooke-Fordyce trichoepitheliomas db key 2012-06 2017-12-29
多發家族性毛髮上皮瘤 unknown. tumors that develop from structures associated with the skin (skin appendages), EAC GTR C1275122
such as hair follicles and sweat glands. People with multiple familial epithelioma adenoides cysticum of Brooke db key
trichoepithelioma typically develop large numbers of smooth, round tumors called familial multiple trichoepitheliomata GTR C2677505
trichoepitheliomas, which arise from hair follicles. Trichoepitheliomas are hereditary multiple benign cystic epithelioma db key
generally noncancerous (benign) but occasionally develop into a type of skin MFT MeSH D012878
cancer called basal cell carcinoma. db key
html:p Individuals with multiple familial trichoepithelioma occasionally also develop OMIM 601606
other types of tumors, including growths called spiradenomas and cylindromas. db key
Spiradenomas develop in sweat glands. The origin of cylindromas has been OMIM 612099
unclear; while previously thought to derive from sweat glands, they are now db key
generally believed to begin in hair follicles. Affected individuals are also at Orphanet 867
increased risk of developing tumors in tissues other than skin appendages, db key
particularly benign or malignant tumors of the salivary glands. SNOMED CT 403825008
html:p People with multiple familial trichoepithelioma typically begin developing
tumors during childhood or adolescence. The tumors mostly appear on the face,
especially in the folds in the skin between the nose and lips (nasolabial folds,
sometimes called smile lines), but may also occur on the neck, scalp, or trunk.
They may grow larger and increase in number over time.
html:p In severe cases, the tumors may get in the way of the eyes, ears, nose, or mouth
and affect vision, hearing, or other functions. The growths can be disfiguring
and may contribute to depression or other psychological problems. For reasons
that are unclear, females with multiple familial trichoepithelioma are often
more severely affected than males.
related-gene-list
Multiple mitochondrial dysfunctions syndrome https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome Multiple mitochondrial dysfunctions syndrome is a rare condition; its html:p Multiple mitochondrial dysfunctions syndrome is characterized by impairment of ar autosomal recessive BOLA3 https://ghr.nlm.nih.gov/gene/BOLA3 MMDS db key 2015-05 2017-12-29
prevalence is unknown. It is one of several conditions classified as cellular structures called mitochondria, which are the energy-producing centers related-gene gene-symbol ghr-page multiple mitochondrial dysfunction syndrome GTR C3276432
mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide. of cells. While certain mitochondrial disorders are caused by impairment of a NFU1 https://ghr.nlm.nih.gov/gene/NFU1 db key
single stage of energy production, individuals with multiple mitochondrial GTR C3280378
dysfunctions syndrome have reduced function of more than one stage. The signs db key
and symptoms of this severe condition begin early in life, and affected GTR C3809165
individuals usually do not live past infancy. db key
html:p Affected infants typically have severe brain dysfunction (encephalopathy), which GeneReviews mt-overview
can contribute to weak muscle tone (hypotonia), seizures, and delayed db key
development of mental and movement abilities (psychomotor delay). These infants MeSH D028361
often have difficulty growing and gaining weight at the expected rate (failure db key
to thrive). Most affected babies have a buildup of a chemical called lactic acid OMIM 605711
in the body (lactic acidosis), which can be life-threatening. They may also db key
have high levels of a molecule called glycine (hyperglycinemia) or elevated OMIM 614299
levels of sugar (hyperglycemia) in the blood. Some babies with multiple db key
mitochondrial dysfunctions syndrome have high blood pressure in the blood OMIM 615330
vessels that connect to the lungs (pulmonary hypertension) or weakening of the db key
heart muscle (cardiomyopathy). Orphanet 289573
db key
related-gene-list SNOMED CT 720827002
Multiple myeloma https://ghr.nlm.nih.gov/condition/multiple-myeloma Multiple myeloma is considered a rare cancer; it accounts for about 10 html:p Multiple myeloma is a cancer that develops in the bone marrow, the spongy tissue n not inherited BRAF https://ghr.nlm.nih.gov/gene/BRAF Kahler-Bozzolo disease db key 2016-05 2017-12-29
多发性骨髓瘤 percent of cancers of the blood and blood-forming tissues, and between one and found in the center of most bones. The bone marrow produces red blood cells, code memo related-gene gene-symbol ghr-page Kahler disease GTR C0026764
two percent of all cancers. Multiple myeloma occurs in approximately 4 per which carry oxygen throughout the body; white blood cells, which form the body's u pattern unknown CCND1 https://ghr.nlm.nih.gov/gene/CCND1 Kahler's disease db key
100,000 people per year; there are currently about 100,000 affected individuals defenses (immune system); and platelets, which are necessary for blood related-gene gene-symbol ghr-page medullary plasmacytoma GTR CN186214
in the United States. clotting. FCRL4 https://ghr.nlm.nih.gov/gene/FCRL4 myelomatosis db key
html:p Multiple myeloma is characterized by abnormalities in plasma cells, a type of related-gene gene-symbol ghr-page plasma cell dyscrasia ICD-10-CM C90.0
white blood cell. These abnormal cells multiply out of control, increasing from FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 plasma cell myelomas db key
about one percent of cells in the bone marrow to the majority of bone marrow related-gene gene-symbol ghr-page ICD-10-CM C90.00
cells. The abnormal cells form tumors within the bone, causing bone pain and an IRF4 https://ghr.nlm.nih.gov/gene/IRF4 db key
increased risk of fractures. If the tumors interfere with nerves near the bones, related-gene gene-symbol ghr-page ICD-10-CM C90.01
numbness or weakness in the arms or legs can occur. Affected individuals may LIG4 https://ghr.nlm.nih.gov/gene/LIG4 db key
also experience a loss of bone tissue, particularly in the skull, spine, ribs, related-gene gene-symbol ghr-page ICD-10-CM C90.02
and pelvis. The deterioration of bone can result in an excess of calcium in the MAF https://ghr.nlm.nih.gov/gene/MAF db key
blood (hypercalcemia), which can lead to nausea and loss of appetite, excessive related-gene gene-symbol ghr-page MeSH D009101
thirst, fatigue, muscle weakness, and confusion. MUM1 https://ghr.nlm.nih.gov/gene/MUM1 db key
html:p The abnormal plasma cells in multiple myeloma produce proteins that impair the related-chromosome name ghr-page OMIM 254500
development of normal blood cells. As a result, affected individuals may have a 14 https://ghr.nlm.nih.gov/chromosome/14 db key
reduced number of red blood cells (anemia), which can cause fatigue, weakness, Orphanet 29073
and unusually pale skin (pallor); a low number of white blood cells db key
(leukopenia), which can result in a weakened immune system and frequent SNOMED CT 109989006
infections such as pneumonia; and a reduced number of platelets
(thrombocytopenia), which can lead to abnormal bleeding and bruising. Kidney
problems can also occur in this disorder, caused by hypercalcemia or by toxic
proteins produced by the abnormal plasma cells.
html:p People with multiple myeloma typically develop the disorder around age 65. Over
time, affected individuals can develop life-threatening complications, but the
rate at which this happens varies widely. Some affected individuals are
diagnosed incidentally when tests are done for other purposes and do not
experience symptoms for years.
related-gene-list
Multiple pterygium syndrome https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome The prevalence of multiple pterygium syndrome is unknown. html:p Multiple pterygium syndrome is a condition that is evident before birth with ar autosomal recessive CHRNA1 https://ghr.nlm.nih.gov/gene/CHRNA1 Escobar syndrome db key 2011-11 2017-12-29
多發性翼狀膜症候群 webbing of the skin (pterygium) at the joints and a lack of muscle movement related-gene gene-symbol ghr-page familial pterygium syndrome GTR C0265261
多蹼翼類症 (akinesia) before birth. Akinesia frequently results in muscle weakness and CHRND https://ghr.nlm.nih.gov/gene/CHRND pterygium syndrome db key
Escobar syndrome joint deformities called contractures that restrict the movement of joints related-gene gene-symbol ghr-page GTR C1854678
(arthrogryposis). As a result, multiple pterygium syndrome can lead to further CHRNG https://ghr.nlm.nih.gov/gene/CHRNG db key
problems with movement such as arms and legs that cannot fully extend. related-gene gene-symbol ghr-page MeSH D012873
html:p The two forms of multiple pterygium syndrome are differentiated by the severity RAPSN https://ghr.nlm.nih.gov/gene/RAPSN db key
of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred OMIM 253290
to as Escobar syndrome) is the milder of the two types. Lethal multiple db key
pterygium syndrome is fatal before birth or very soon after birth. OMIM 265000
html:p In people with multiple pterygium syndrome, Escobar type, the webbing typically db key
affects the skin of the neck, fingers, forearms, inner thighs, and backs of the Orphanet 2990
knee. People with this type may also have arthrogryposis. A side-to-side db key
curvature of the spine (scoliosis) is sometimes seen. Affected individuals may Orphanet 33108
also have respiratory distress at birth due to underdeveloped lungs (lung db key
hypoplasia). People with multiple pterygium syndrome, Escobar type usually have SNOMED CT 205819008
distinctive facial features including droopy eyelids (ptosis), outside corners db key
of the eyes that point downward (downslanting palpebral fissures), skin folds SNOMED CT 60192008
covering the inner corner of the eyes (epicanthal folds), a small jaw, and db key
low-set ears. Males with this condition can have undescended testes SNOMED CT 80773006
(cryptorchidism). This condition does not worsen after birth, and affected
individuals typically do not have muscle weakness later in life.
html:p Lethal multiple pterygium syndrome has many of the same signs and symptoms as
the Escobar type. In addition, affected fetuses may develop a buildup of excess
fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the
back of the neck (cystic hygroma). Individuals with this type have severe
arthrogryposis. Lethal multiple pterygium syndrome is associated with
abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or
brain; twisting of the intestines (intestinal malrotation); kidney
abnormalities; an opening in the roof of the mouth (a cleft palate); and an
unusually small head size (microcephaly). Affected individuals may also develop
a hole in the muscle that separates the abdomen from the chest cavity (the
diaphragm), a condition called a congenital diaphragmatic hernia. Lethal
multiple pterygium syndrome is typically fatal in the second or third trimester
of pregnancy.
related-gene-list
Multiple sclerosis https://ghr.nlm.nih.gov/condition/multiple-sclerosis An estimated 1.1 to 2.5 million people worldwide have multiple sclerosis. html:p Multiple sclerosis is a condition characterized by areas of damage (lesions) on u pattern unknown CYP27B1 https://ghr.nlm.nih.gov/gene/CYP27B1 disseminated sclerosis db key 2015-10 2017-12-29
多發性硬化症 Although the reason is unclear, this condition is more common in regions that the brain and spinal cord. These lesions are associated with destruction of the related-gene gene-symbol ghr-page MS GTR CN031763
are farther away from the equator. In Canada, parts of the northern United covering that protects nerves and promotes the efficient transmission of nerve HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 db key
States, western and northern Europe, Russia, and southeastern Australia, the impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is related-gene gene-symbol ghr-page ICD-10-CM G35
condition affects approximately 1 in 2,000 to 2,400 people. It is less common considered an autoimmune disorder; autoimmune disorders occur when the immune IL2RA https://ghr.nlm.nih.gov/gene/IL2RA db key
closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South system malfunctions and attacks the body's own tissues and organs, in this case related-gene gene-symbol ghr-page MeSH D009103
America, where about 1 in 20,000 people are affected. For unknown reasons, most tissues of the nervous system. IL7R https://ghr.nlm.nih.gov/gene/IL7R db key
forms of multiple sclerosis affect women twice as often as men; however, women html:p Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. related-gene gene-symbol ghr-page Orphanet 802
and men are equally affected by primary progressive MS. The symptoms vary widely, and affected individuals can experience one or more TNFRSF1A https://ghr.nlm.nih.gov/gene/TNFRSF1A db key
effects of nervous system damage. Multiple sclerosis often causes sensory SNOMED CT 192928003
disturbances in the limbs, including a prickling or tingling sensation db key
(paresthesia), numbness, pain, and itching. Some people experience Lhermitte SNOMED CT 24700007
sign, which is an electrical shock-like sensation that runs down the back and
into the limbs. This sensation usually occurs when the head is bent forward.
Problems with muscle control are common in people with multiple sclerosis.
Affected individuals may have tremors, muscle stiffness (spasticity),
exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the
muscles of the limbs, difficulty walking, or poor bladder control. Multiple
sclerosis is also associated with vision problems, such as blurred or double
vision or partial or complete vision loss. Infections that cause fever can make
the symptoms worse.
html:p There are several forms of multiple sclerosis: relapsing-remitting MS, secondary
progressive MS, primary progressive MS, and progressive relapsing MS. The most
common is the relapsing-remitting form, which affects approximately 80 percent
of people with multiple sclerosis. Individuals with this form of the condition
have periods during which they experience symptoms, called clinical attacks,
followed by periods without any symptoms (remission). The triggers of clinical
attacks and remissions are unknown. After about 10 years, relapsing-remitting MS
usually develops into another form of the disorder called secondary progressive
MS. In this form, there are no remissions, and symptoms of the condition
continually worsen.
html:p Primary progressive MS is the next most common form, affecting approximately 10
to 20 percent of people with multiple sclerosis. This form is characterized by
constant symptoms that worsen over time, with no clinical attacks or remissions.
Primary progressive MS typically begins later than the other forms, around age
40
html:p Progressive relapsing MS is a rare form of multiple sclerosis that initially
appears like primary progressive MS, with constant symptoms. However, people
with progressive relapsing MS also experience clinical attacks of more severe
symptoms.
106位本港多發性硬化症患者，發現37.7%每年病發至少1次，19.8%要以輪椅代步。患者接受持續藥物治療，能有效控制病情，過正常生活。李梓強舉例，去年諾貝爾物理學獎得主Michael Kosterlitz與此病戰鬥35年，仍有傑出表現，鼓勵患者正面過生活，向夢想進發。多發性硬化症是一種中樞神經系统疾病，令身體的免疫系统錯誤地攻擊神經纖維外層髓鞘，令髓鞘出現疤痕而「硬化」，神經信號便無法傳遞。患者因大腦、小腦、腦幹、脊髓或視神經受影響，會出現視力受損、短期記憶和判斷力轉差、失禁、肢體無力甚至無法走路等。本港多發性硬化症的發病率為每十萬人口中有6.8人，推算全港約有500人確診，而患者多在20至30歲首次發病，逾70%是女性。 related-gene-list
Multiple sulfatase deficiency https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency Multiple sulfatase deficiency is estimated to occur in 1 per million html:p Multiple sulfatase deficiency is a condition that mainly affects the brain, ar autosomal recessive SUMF1 https://ghr.nlm.nih.gov/gene/SUMF1 Austin syndrome db key 2014-07 2017-12-29
多發性硫酸脂酶缺乏症 individuals worldwide. Approximately 50 cases have been reported in the skin, and skeleton. Because the signs and symptoms of multiple sulfatase juvenile sulfatidosis, Austin type GTR C0268263
scientific literature. deficiency vary widely, researchers have split the condition into three types: MSD db key
neonatal, late-infantile, and juvenile. mucosulfatidosis MeSH D052517
html:p The neonatal type is the most severe form, with signs and symptoms appearing db key
soon after birth. Affected individuals have deterioration of tissue in the OMIM 272200
nervous system (leukodystrophy), which can contribute to movement problems, db key
seizures, developmental delay, and slow growth. They also have dry, scaly skin Orphanet 585
(ichthyosis) and excess hair growth (hypertrichosis). Skeletal abnormalities can db key
include abnormal side-to-side curvature of the spine (scoliosis), joint SNOMED CT 54898003
stiffness, and dysostosis multiplex, which refers to a specific pattern of
skeletal abnormalities seen on x-ray. Individuals with the neonatal type
typically have facial features that can be described as "coarse." Affected
individuals may also have hearing loss, heart malformations, and an enlarged
liver and spleen (hepatosplenomegaly). Many of the signs and symptoms of
neonatal multiple sulfatase deficiency worsen over time.
html:p The late-infantile type is the most common form of multiple sulfatase
deficiency. It is characterized by normal cognitive development in early
childhood followed by a progressive loss of mental abilities and movement
(psychomotor regression) due to leukodystrophy or other brain abnormalities.
Individuals with this form of the condition do not have as many features as
those with the neonatal type, but they often have ichthyosis, skeletal
abnormalities, and coarse facial features.
html:p The juvenile type is the rarest form of multiple sulfatase deficiency. Signs and
symptoms of the juvenile type appear in mid- to late childhood. Affected
individuals have normal early cognitive development but then experience
psychomotor regression; however, the regression in the juvenile type usually
occurs at a slower rate than in the late-infantile type. Ichthyosis is also
common in the juvenile type of multiple sulfatase deficiency.
html:p Life expectancy is shortened in individuals with all types of multiple sulfatase
deficiency. Typically, affected individuals survive only a few years after the
signs and symptoms of the condition appear, but life expectancy varies depending
on the severity of the condition and how quickly the neurological problems
worsen.
related-gene-list
Multiple system atrophy https://ghr.nlm.nih.gov/condition/multiple-system-atrophy Multiple system atrophy has a prevalence of 2 to 5 per 100,000 people. html:p Multiple system atrophy is a progressive brain disorder that affects movement u pattern unknown COQ2 https://ghr.nlm.nih.gov/gene/COQ2 MSA db key 2016-07 2017-12-29
多系统萎缩 and balance and disrupts the function of the autonomic nervous system. The related-gene gene-symbol ghr-page OPCA GTR C0037019
autonomic nervous system controls body functions that are mostly involuntary, SNCA https://ghr.nlm.nih.gov/gene/SNCA progressive autonomic failure with multiple system atrophy db key
such as regulation of blood pressure. The most frequent autonomic symptoms SDS ICD-10-CM G90.3
associated with multiple system atrophy are a sudden drop in blood pressure upon Shy-Drager syndrome db key
standing (orthostatic hypotension), urinary difficulties, and erectile sporadic olivopontocerebellar atrophy MeSH D019578
dysfunction in men. db key
html:p Researchers have described two major types of multiple system atrophy, which are OMIM 146500
distinguished by their major signs and symptoms at the time of diagnosis. In db key
one type, known as MSA-P, a group of movement abnormalities called parkinsonism Orphanet 102
are predominant. These abnormalities include unusually slow movement db key
(bradykinesia), muscle rigidity, tremors, and an inability to hold the body Orphanet 227510
upright and balanced (postural instability). The other type of multiple system db key
atrophy, known as MSA-C, is characterized by cerebellar ataxia, which causes Orphanet 98933
problems with coordination and balance. This form of the condition can also db key
include speech difficulties (dysarthria) and problems controlling eye movement. SNOMED CT 16576004
html:p Multiple system atrophy usually occurs in older adults; on average, signs and db key
symptoms appear around age 55. The condition worsens with time, and affected SNOMED CT 230297002
individuals survive an average of 10 years after the signs and symptoms first
appear.
synonym-list db-key-list
Myasthenia gravis https://ghr.nlm.nih.gov/condition/myasthenia-gravis Myasthenia gravis affects about 20 per 100,000 people worldwide. The html:p Myasthenia gravis is a disorder that causes weakness of the skeletal muscles, u pattern unknown key 2017-12-29
重症肌無力 prevalence has been increasing in recent decades, which likely results from which are muscles that the body uses for movement. The weakness most often db-key C0026896
earlier diagnosis and better treatments leading to longer lifespans for affected starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) key
individuals. and difficulty coordinating eye movements, which results in blurred or double db-key C1846838
vision. In a form of the disorder called ocular myasthenia, the weakness remains key
confined to the eye muscles. In most people with myasthenia gravis, however, db-key G70.00
additional muscles in the face and neck are affected. Affected individuals may key
have unusual facial expressions, difficulty holding up the head, speech db-key G70.01
impairment (dysarthria), and chewing and swallowing problems (dysphagia) that key
may lead to choking, gagging, or drooling. db-key P94.0
html:p Other muscles in the body are also affected in some people with myasthenia key
gravis. The muscles of the arms and legs may be involved, causing affected db-key D009157
individuals to have changes in their gait or trouble with lifting objects, key
rising from a seated position, or climbing stairs. The muscle weakness tends to db-key 159400
fluctuate over time; it typically worsens with activity and improves with rest. key
html:p Weakness of the muscles in the chest wall and the muscle that separates the db-key 254200
abdomen from the chest cavity (the diaphragm) can cause breathing problems in key
some people with myasthenia gravis. About 10 percent of people with this db-key 607085
disorder experience a potentially life-threatening complication in which these key
respiratory muscles weaken to the point that breathing is dangerously impaired, db-key 589
and the affected individual requires ventilation assistance. This respiratory key
failure, called a myasthenic crisis, may be triggered by stresses such as 91637004
infections or reactions to medications.
html:p People can develop myasthenia gravis at any age. For reasons that are unknown,
it is most commonly diagnosed in women younger than age 40 and men older than
age 60. It is uncommon in children, but some infants born to women with
myasthenia gravis show signs and symptoms of the disorder for the first few days
or weeks of life. This temporary occurrence of symptoms is called transient
neonatal myasthenia gravis.
synonym-list db-key-list
Mycosis fungoides https://ghr.nlm.nih.gov/condition/mycosis-fungoides Mycosis fungoides occurs in about 1 in 100,000 to 350,000 individuals. It html:p Mycosis fungoides is the most common form of a type of blood cancer called n not inherited synonym granuloma fungoides key 2017-12-29
蕈樣肉芽腫病 accounts for approximately 70 percent of cutaneous T-cell lymphomas. For unknown cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white code memo db-key C0026948
(Blood cancer) reasons, mycosis fungoides affects males nearly twice as often as females. In blood cells, called T cells, become cancerous; these cancers characteristically u pattern unknown key
the United States, there are an estimated 3.6 cases per million people each affect the skin, causing different types of skin lesions. Although the skin is db-key C84.0
year. The condition has been found in regions around the world. involved, the skin cells themselves are not cancerous. Mycosis fungoides usually key
occurs in adults over age 50, although affected children have been identified. db-key C84.00
html:p Mycosis fungoides may progress slowly through several stages, although not all key
people with the condition progress through all stages. Most affected individuals db-key C84.01
initially develop skin lesions called patches, which are flat, scaly, pink or key
red areas on the skin that can be itchy. Cancerous T cells, which cause the db-key C84.02
formation of patches, are found in these lesions. The skin cells themselves are key
not cancerous; the skin problems result when cancerous T cells move from the db-key C84.03
blood into the skin. Patches are most commonly found on the lower abdomen, upper key
thighs, buttocks, and breasts. They can disappear and reappear or remain stable db-key C84.04
over time. In some affected individuals, patches progress to plaques, the next key
stage of mycosis fungoides. db-key C84.05
html:p Plaques are raised lesions that are usually reddish, purplish, or brownish in key
color and itchy. Plaques commonly occur in the same body regions as patches. db-key C84.06
While some plaques arise from patches, others develop on their own, and an key
affected person can have both patches and plaques simultaneously. As with db-key C84.07
patches, cancerous T cells are found in plaques. Plaques can remain stable or key
can develop into tumors. Not everyone with patches or plaques develops tumors. db-key C84.08
html:p The tumors in mycosis fungoides, which are composed of cancerous T cells, are key
raised nodules that are thicker and deeper than plaques. They can arise from db-key C84.09
patches or plaques or occur on their own. Mycosis fungoides was so named because key
the tumors can resemble mushrooms, a type of fungus. Common locations for tumor db-key D009182
development include the upper thighs and groin, breasts, armpits, and the crook key
of the elbow. Open sores may develop on the tumors, often leading to infection. db-key 254400
html:p Although rare, the cancerous T cells can spread to other organs, including the key
lymph nodes, spleen, liver, and lungs. Spread to other organs can occur in any db-key 2584
stage of mycosis fungoides but is most common in the tumor stage. In addition, key
affected individuals have an increased risk of developing another lymphoma or 118618005
other type of cancer.
inheritance-pattern-list
MyD88 deficiency https://ghr.nlm.nih.gov/condition/myd88-deficiency The prevalence of MyD88 deficiency is unknown. At least 24 affected html:p MyD88 deficiency is an inherited disorder of the immune system (primary ar autosomal recessive gene-symbol synonym MYD88 deficiency db-key db key 2015-06 2017-12-29
individuals have been described in the medical literature. immunodeficiency). This primary immunodeficiency affects the innate immune MYD88 synonym pyogenic bacterial infections due to MyD88 deficiency GTR C2677092
response, which is the body's early, nonspecific response to foreign invaders db-key db key
(pathogens). MyD88 deficiency leads to abnormally frequent and severe infections MeSH D007153
by a subset of bacteria known as pyogenic bacteria. (Infection with pyogenic db-key db key
bacteria causes the production of pus.) However, affected individuals have OMIM 612260
normal resistance to other common bacteria, viruses, fungi, and parasites. The db-key db key
html:i html:i bacteria. Most people with this condition have their first bacterial infection Orphanet 183713
Streptococcus pneumoniae Pseudomonas aeruginosa before age 2, and the infections can be life-threatening in infancy and db-key db key
childhood. Infections become less frequent by about age 10. SNOMED CT 718232007
html:p Children with MyD88 deficiency develop invasive bacterial infections, which can
involve the blood (septicemia), the membrane covering the brain and spinal cord
(meningitis), or the joints (leading to inflammation and arthritis). Invasive
infections can also cause areas of tissue breakdown and pus production
(abscesses) on internal organs. In addition, affected individuals can have
localized infections of the ears, nose, or throat. Although fever is a common
reaction to bacterial infections, many people with MyD88 deficiency do not at
first develop a high fever in response to these infections, even if the
infection is severe.
inheritance-pattern-list
MYH9-related disorder https://ghr.nlm.nih.gov/condition/myh9-related-disorder The incidence of MYH9-related disorder is unknown. More than 200 affected html:p MYH9-related disorder is a condition that can have many ad autosomal dominant gene-symbol synonym autosomal dominant MYH9 spectrum disorders db-key db key 2011-04 2017-12-29
MYH9相关综合征 families have been reported in the scientific literature. signs and symptoms, including bleeding problems, hearing loss, MYH9 synonym MYH9-related macrothrombocytopenias GTR CN073381
kidney (renal) disease, and clouding of the lens of the eyes (cataract). synonym MYH9RD db-key db key
html:p The bleeding problems in people with MYH9-related disorder are GeneReviews myh9
due to thrombocytopenia. Thrombocytopenia is a reduced level of db-key db key
circulating platelets, which are cell fragments that normally assist ICD-10-CM D72.0
with blood clotting. People with MYH9-related disorder typically db-key db key
experience easy bruising, and affected women have excessive bleeding -related disorder are larger than normal. These enlarged platelets have MeSH D013921
during menstruation (menorrhagia). The platelets in people with difficulty moving into tiny blood vessels like capillaries. As a result, the db-key db key
MYH9-related disorder are larger than normal. These enlarged platelets have difficulty moving into tiny blood vessels like capillaries. As a result, the platelet level is even lower in these small vessels, further impairing clotting. platelet level is even lower in these small vessels, further impairing clotting. OMIM 153640
html:p Some people with MYH9-related disorder develop hearing loss db-key db key
caused by abnormalities of the inner ear (sensorineural hearing loss). OMIM 153650
Hearing loss may be present from birth or can develop anytime into late adulthood. db-key db key
html:p An estimated 30 to 70 percent of people with MYH9-related disorder OMIM 155100
develop renal disease, usually beginning in early adulthood. The db-key db key
first sign of renal disease in MYH9-related disorder is typically protein OMIM 600208
or blood in the urine. Renal disease in these individuals particularly db-key db key
affects structures called glomeruli, which are clusters of tiny blood vessels that help filter waste products from the blood. OMIM 605249
The resulting damage to the kidneys can lead to kidney failure and end-stage renal disease (ESRD). db-key db key
html:p Some affected individuals develop cataracts in early adulthood that worsen over Orphanet 182050
time. db-key db key
html:p Not everyone with MYH9-related disorder has all of the major features. All individuals with MYH9-related SNOMED CT 234484005
disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals db-key db key
will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder. SNOMED CT 234485006
html:p MYH9-related disorder was previously thought to be four separate db-key db key
disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, SNOMED CT 236422008
and Sebastian syndrome. All of these disorders involved thrombocytopenia
and enlarged platelets and were distinguished by some combination of
hearing loss, renal disease, and cataracts. When it was discovered
that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.
related-gene-list
Myhre syndrome https://ghr.nlm.nih.gov/condition/myhre-syndrome Myhre syndrome is a rare disorder; its prevalence is unknown. At least 60 html:p Myhre syndrome is a condition involving short stature, characteristic facial ad autosomal dominant SMAD4 https://ghr.nlm.nih.gov/gene/SMAD4 LAPS syndrome db key 2017-06 2017-12-29
Myhre综合征 cases have been documented in the medical literature. features, hearing loss, limited joint mobility, a buildup of scar tissue laryngotracheal stenosis, arthropathy, prognathism, and short stature GTR C0796081
(fibrosis) in the skin and internal organs, and other problems affecting db key
multiple body systems. Affected individuals often have problems with the heart GeneReviews myhre
and blood vessels (cardiovascular system), the lungs and airways (respiratory db key
system), and the skeletal system. The cardiovascular and respiratory problems MeSH D000015
gradually get worse and can lead to potentially life-threatening complications. db key
Cancer also occasionally occurs in Myhre syndrome. OMIM 139210
html:p People with Myhre syndrome usually have delayed development of language and db key
motor skills such as crawling and walking. Although intelligence can be normal Orphanet 2588
in affected individuals, most have intellectual disability that ranges from mild db key
to moderate. Some people with this disorder have behavioral issues such as SNOMED CT 699316006
features of autism spectrum disorder affecting communication and social
interaction. Hearing loss occurs in most people with Myhre syndrome, usually
beginning in early childhood and gradually worsening; this hearing loss may not
be detected promptly and can contribute to learning and behavioral problems.
html:p Fibrosis in Myhre syndrome can occur spontaneously or develop following surgery
or trauma. Affected individuals typically have stiff, thickened skin; this skin
condition may not be noticeable during infancy, but worsens over time. Usually
the skin changes first appear on the palms of the hands, the soles of the feet,
the back of the elbows, and the front of the knees. Eventually the skin thickens
on other parts of the body. As a result of the thicker skin, affected
individuals typically have fewer facial creases (wrinkles) than others of their
age. Fibrosis can also occur in the cardiovascular system, respiratory system,
and gastrointestinal tract, causing dysfunction in these systems.
html:p Individuals with Myhre syndrome often have problems with the structure of the
heart that are present at birth (congenital heart defects). Fibrosis in the
cardiovascular system can lead to the development of additional problems such as
high blood pressure (hypertension); narrowing (stenosis) of the heart valves or
blood vessels; tightening of the pericardium, which is the membrane that
surrounds the heart (constrictive pericarditis); or restrictive cardiomyopathy,
in which the heart muscle is stiff and cannot fully relax after each
contraction.
html:p In Myhre syndrome, fibrosis of the respiratory tract can lead to narrowing of
the windpipe (laryngotracheal stenosis) and the passages leading from the
windpipe to the lungs (bronchi), high blood pressure in the vessels that carry
blood from the heart to the lungs (the pulmonary arteries), damage to lung
tissue (interstitial pulmonary disease), and an impairment of lung expansion
(restrictive pulmonary disease). In the gastrointestinal tract, fibrosis can
result in narrowing of the lower part of the stomach (pyloric stenosis) or of
the upper part of the small intestine (duodenal strictures), or severe
constipation.
html:p Growth is reduced in people with Myhre syndrome, beginning before birth and
continuing through adolescence. Affected individuals have a low birth weight and
are generally shorter than about 97 percent of their peers throughout life.
They have shortened long bones of the arms and legs, and unusually short fingers
and toes (brachydactyly). Other skeletal abnormalities associated with this
disorder include thickening of the skull bones, flattened bones of the spine
(platyspondyly), broad ribs, and underdevelopment of the wing-shaped structures
of the pelvis (hypoplastic iliac wings). Affected individuals often have joint
problems (arthropathy), including stiffness and limited mobility.
html:p Typical facial features in people with Myhre syndrome include narrow openings of
the eyelids (short palpebral fissures), deeply set eyes, a shortened distance
between the nose and upper lip (a short philtrum), a narrow mouth with a thin
upper lip, an underdeveloped upper jaw, and a protruding lower jaw
(prognathism). Some affected individuals are born with an opening in the roof of
the mouth (a cleft palate), a split in the lip (a cleft lip), or both. Vision
problems are common in this disorder and can include eyes that do not point in
the same direction (strabismus), nearsightedness (myopia), farsightedness
(hyperopia), an irregular curvature of the front of the eye (astigmatism),
clouding of the lenses (cataracts), or an abnormality of the back of the eye
called pseudopapilledema.
inheritance-pattern-list related-gene-list
Myoclonic epilepsy myopathy sensory ataxia https://ghr.nlm.nih.gov/condition/myoclonic-epilepsy-myopathy-sensory-ataxia The prevalence of myoclonic epilepsy myopathy sensory ataxia is unknown. html:p Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a ar autosomal recessive POLG synonym db-key db key 2011-06 2017-12-29
肌陣攣性癲癇肌病感覺性共濟失調 The signs and symptoms of MEMSA typically synonym GTR C1843852
appear during young adulthood. synonym db-key db key
GeneReviews alpers
db-key db key
MeSH D028361
html:p The first symptom of MEMSA is usually cerebellar ataxia, which refers to db-key db key
Hartnup disease problems with coordination and balance due to defects in the part of the brain SNOMED CT 699328003
that is involved in coordinating movement (cerebellum). Recurrent seizures
(epilepsy) usually develop later, often in combination with uncontrollable
muscle jerks (myoclonus). The seizures usually begin in the right arm and spread
to become generalized throughout the body. Additionally, affected individuals
may have severe brain dysfunction (encephalopathy) or muscle weakness
(myopathy). The myopathy can affect muscles close to the center of the body
(proximal), such as the muscles of the hips, thighs, upper arms, or neck, or
muscles farther away from the center of the body (distal), such as the muscles
of the hands or feet. The myopathy may be especially noticeable during exercise
(exercise intolerance).
related-gene-list
Myoclonic epilepsy with ragged-red fibers https://ghr.nlm.nih.gov/condition/myoclonic-epilepsy-with-ragged-red-fibers MERRF is a rare condition; its prevalence is unknown. MERRF is part of a html:p Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects m mitochondrial MT-TF https://ghr.nlm.nih.gov/gene/MT-TF Fukuhara Disease db key 2014-05 2017-12-29
myoclonic epilepsy associated with ragged-red fibers, MERRF group of conditions known as mitochondrial disorders, which affect an estimated many parts of the body, particularly the muscles and nervous system. In most related-gene gene-symbol ghr-page MERRF GTR C0162672
肌抽躍性癲癇合併破碎紅色肌纖維症 1 in 5,000 people worldwide. cases, the signs and symptoms of this disorder appear during childhood or MT-TH https://ghr.nlm.nih.gov/gene/MT-TH MERRF syndrome db key
肌陣攣性癲癇發作伴破碎紅纖維病變 adolescence. The features of MERRF vary widely among affected individuals, even related-gene gene-symbol ghr-page myoclonic epilepsy associated with ragged-red fibers GeneReviews merrf
among members of the same family. MT-TK https://ghr.nlm.nih.gov/gene/MT-TK myoencephalopathy ragged-red fiber disease db key
html:p MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and related-gene gene-symbol ghr-page ICD-10-CM E88.42
progressive stiffness (spasticity). When the muscle cells of affected MT-TL1 https://ghr.nlm.nih.gov/gene/MT-TL1 db key
individuals are stained and viewed under a microscope, these cells usually related-gene gene-symbol ghr-page MeSH D017243
appear abnormal. These abnormal muscle cells are called ragged-red fibers. Other MT-TP https://ghr.nlm.nih.gov/gene/MT-TP db key
features of MERRF include recurrent seizures (epilepsy), difficulty related-gene gene-symbol ghr-page OMIM 545000
coordinating movements (ataxia), a loss of sensation in the extremities MT-TS1 https://ghr.nlm.nih.gov/gene/MT-TS1 db key
(peripheral neuropathy), and slow deterioration of intellectual function related-gene gene-symbol ghr-page Orphanet 551
(dementia). People with this condition may also develop hearing loss or optic MT-TS2 https://ghr.nlm.nih.gov/gene/MT-TS2 db key
atrophy, which is the degeneration (atrophy) of nerve cells that carry visual related-gene gene-symbol ghr-page SNOMED CT 230426003
information from the eyes to the brain. Affected individuals sometimes have MT-TT https://ghr.nlm.nih.gov/gene/MT-TT db key
short stature and a form of heart disease known as cardiomyopathy. Less related-mitochondrial-dna name ghr-page SNOMED CT 57254004
commonly, people with MERRF develop fatty tumors, called lipomas, just under the mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna db key
surface of the skin. SNOMED CT 68448003
related-gene-list
Myoclonus-dystonia https://ghr.nlm.nih.gov/condition/myoclonus-dystonia The prevalence of myoclonus-dystonia in Europe is estimated to be 1 in html:p Myoclonus-dystonia is a movement disorder that typically affects the neck, ad autosomal dominant KCTD17 https://ghr.nlm.nih.gov/gene/KCTD17 dystonia 11 db key 2017-10 2017-12-29
500,000 individuals. Its prevalence elsewhere in the world is unknown. torso, and arms. Individuals with this condition experience quick, involuntary related-gene gene-symbol ghr-page DYT11 GTR C1834570
muscle jerks or twitches (myoclonus). About half of individuals with RELN https://ghr.nlm.nih.gov/gene/RELN myoclonus-dystonia syndrome db key
myoclonus-dystonia develop dystonia, which is involuntary tensing of various related-gene gene-symbol ghr-page GeneReviews myo-dystonia
muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often SGCE https://ghr.nlm.nih.gov/gene/SGCE db key
affects one or both hands, causing writer's cramp, or the neck, causing the head MeSH D009207
to turn (torticollis). db key
html:p The movement problems usually first appear in childhood or early adolescence OMIM 159900
with the development of myoclonus. In most cases, the movement problems remain db key
stable throughout life. In some adults, myoclonus improves with alcohol Orphanet 36899
consumption, which can lead to affected individuals self-medicating and becoming db key
alcohol-dependent. SNOMED CT 439732004
html:p People with myoclonus-dystonia often develop psychological disorders such as
depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD).
related-gene-list
Myofibrillar myopathy https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy The prevalence of myofibrillar myopathy is unknown. html:p Myofibrillar myopathy is part of a group of disorders called muscular ad autosomal dominant BAG3 https://ghr.nlm.nih.gov/gene/BAG3 myofibrillar myopathies db key 2011-01 2017-12-29
肌原纤维肌病 dystrophies that affect muscle function and cause weakness. Myofibrillar related-gene gene-symbol ghr-page GTR C1832370
myopathy primarily affects skeletal muscles, which are muscles that the body CRYAB https://ghr.nlm.nih.gov/gene/CRYAB db key
uses for movement. In some cases, the heart (cardiac) muscle is also affected. related-gene gene-symbol ghr-page GTR C1836050
html:p The signs and symptoms of myofibrillar myopathy vary widely among affected DES https://ghr.nlm.nih.gov/gene/DES db key
individuals, typically depending on the condition's genetic cause. Most people related-gene gene-symbol ghr-page GTR C1836155
with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. FLNC https://ghr.nlm.nih.gov/gene/FLNC db key
However, features of this condition can appear anytime between infancy and late related-gene gene-symbol ghr-page GTR C1836607
adulthood. Muscle weakness most often begins in the hands and feet (distal LDB3 https://ghr.nlm.nih.gov/gene/LDB3 db key
muscles), but some people first experience weakness in the muscles near the related-gene gene-symbol ghr-page GTR C1837317
center of the body (proximal muscles). Other affected individuals develop muscle MYOT https://ghr.nlm.nih.gov/gene/MYOT db key
weakness throughout their body. Facial muscle weakness can cause swallowing and GTR C2678065
speech difficulties. Muscle weakness worsens over time. db key
html:p Other signs and symptoms of myofibrillar myopathy can include a weakened heart GTR C2751831
muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness db key
in the limbs (peripheral neuropathy), and respiratory failure. Individuals with GeneReviews mfm
this condition may have skeletal problems including joint stiffness db key
(contractures) and abnormal side-to-side curvature of the spine (scoliosis). MeSH D020914
Rarely, people with this condition develop clouding of the lens of the eyes db key
(cataracts). OMIM 601419
db key
OMIM 608810
db key
OMIM 609200
db key
OMIM 609452
db key
OMIM 609524
db key
OMIM 612954
db key
Orphanet 593
db key
related-gene-list SNOMED CT 699269005
Myopathy with deficiency of iron-sulfur cluster assembly enzyme https://ghr.nlm.nih.gov/condition/myopathy-with-deficiency-of-iron-sulfur-cluste This condition has been reported in several families of northern Swedish html:p Myopathy with deficiency of iron-sulfur cluster assembly enzyme is an inherited ar autosomal recessive ISCU https://ghr.nlm.nih.gov/gene/ISCU hereditary myopathy with lactic acidosis db key 2009-11 2017-12-29
r-assembly-enzyme ancestry. disorder that primarily affects muscles used for movement (skeletal muscles). HML GTR C1850718
This condition does not usually affect other types of muscle, such as the heart iron-sulfur cluster deficiency myopathy db key
(cardiac) muscle. myoglobinuria due to abnormal glycolysis GeneReviews myodef-sda
html:p From early childhood, affected individuals experience extreme fatigue in myopathy with deficiency of ISCU db key
response to physical activity (exercise intolerance). Mild exertion results in a myopathy with deficiency of succinate dehydrogenase and aconitase MeSH D009135
rapid heartbeat (tachycardia), shortness of breath, and muscle weakness and myopathy with exercise intolerance, Swedish type db key
pain. However, people with this condition typically have normal muscle strength OMIM 255125
when they are at rest. db key
html:p Prolonged or recurrent physical activity causes more severe signs and symptoms, Orphanet 43115
including a breakdown of muscle tissue (rhabdomyolysis). The destruction of db key
muscle tissue releases a protein called myoglobin, which is processed by the SNOMED CT 699268002
kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to
be red or brown. This protein can also damage the kidneys, in some cases
leading to life-threatening kidney failure.
html:p In most affected individuals, the muscle problems associated with this condition
do not worsen with time. However, at least two people with a severe variant of
this disorder have experienced progressive muscle weakness and wasting starting
in childhood.
related-gene-list
Myosin storage myopathy https://ghr.nlm.nih.gov/condition/myosin-storage-myopathy Myosin storage myopathy is a rare condition. Its prevalence is unknown. html:p Myosin storage myopathy is a condition that causes muscle weakness (myopathy) ad autosomal dominant MYH7 https://ghr.nlm.nih.gov/gene/MYH7 autosomal dominant hyaline body myopathy db key 2013-02 2017-12-29
that does not worsen or worsens very slowly over time. This condition is GTR C1842160
characterized by the formation of protein clumps, which contain a protein called db key
myosin, within certain muscle fibers. The signs and symptoms of myosin storage MeSH D009135
myopathy usually become noticeable in childhood, although they can occur later. db key
Because of muscle weakness, affected individuals may start walking later than OMIM 608358
usual and have a waddling gait, trouble climbing stairs, and difficulty lifting db key
the arms above shoulder level. Muscle weakness also causes some affected SNOMED CT 699267007
individuals to have trouble breathing.
related-gene-list
Myostatin-related muscle hypertrophy https://ghr.nlm.nih.gov/condition/myostatin-related-muscle-hypertrophy The prevalence of this condition is unknown. html:p Myostatin-related muscle hypertrophy is a rare condition characterized by ad autosomal dominant MSTN https://ghr.nlm.nih.gov/gene/MSTN Muscle hypertrophy syndrome db key 2008-12 2017-12-29
reduced body fat and increased muscle size. Affected individuals have up to GTR C2931112
twice the usual amount of muscle mass in their bodies. They also tend to have db key
increased muscle strength. Myostatin-related muscle hypertrophy is not known to GeneReviews mstn
cause any medical problems, and affected individuals are intellectually normal. db key
MeSH D009135
db key
OMIM 601788
db key
Orphanet 275534
db key
related-gene-list SNOMED CT 699185005
Myotonia congenita https://ghr.nlm.nih.gov/condition/myotonia-congenita Myotonia congenita is estimated to affect 1 in 100,000 people worldwide. html:p Myotonia congenita is a disorder that affects muscles used for movement ad autosomal dominant CLCN1 https://ghr.nlm.nih.gov/gene/CLCN1 Congenital myotonia db key 2007-04 2017-12-29
先天性肌強直症 This condition is more common in northern Scandinavia, where it occurs in (skeletal muscles). Beginning in childhood, people with this condition code memo GTR C0027127
approximately 1 in 10,000 people. experience bouts of sustained muscle tensing (myotonia) that prevent muscles ar autosomal recessive db key
from relaxing normally. Although myotonia can affect any skeletal muscles, GTR C0751360
including muscles of the face and tongue, it occurs most often in the legs. db key
Myotonia causes muscle stiffness that can interfere with movement. In some GTR C2936781
people the stiffness is very mild, while in other cases it may be severe enough db key
to interfere with walking, running, and other activities of daily life. These GeneReviews myotonia-c
muscle problems are particularly noticeable during movement following a period db key
of rest. Many affected individuals find that repeated movements can temporarily ICD-10-CM G71.12
alleviate their muscle stiffness, a phenomenon known as the warm-up effect. db key
html:p The two major types of myotonia congenita are known as Thomsen disease and MeSH D009224
Becker disease. These conditions are distinguished by the severity of their db key
symptoms and their patterns of inheritance. Becker disease usually appears later OMIM 160800
in childhood than Thomsen disease and causes more severe muscle stiffness, db key
particularly in males. People with Becker disease often experience temporary OMIM 255700
attacks of muscle weakness, particularly in the arms and hands, brought on by db key
movement after periods of rest. They may also develop mild, permanent muscle Orphanet 614
weakness over time. This muscle weakness is not seen in people with Thomsen db key
disease. SNOMED CT 20305008
db key
related-gene-list SNOMED CT 57938005
Myotonic dystrophy https://ghr.nlm.nih.gov/condition/myotonic-dystrophy Myotonic dystrophy affects at least 1 in 8,000 people worldwide. The html:p Myotonic dystrophy is part of a group of inherited disorders called muscular ad autosomal dominant CNBP https://ghr.nlm.nih.gov/gene/CNBP dystrophia myotonica db key 2010-11 2017-12-29
肌強直營養不良症 prevalence of the two types of myotonic dystrophy varies among different dystrophies. It is the most common form of muscular dystrophy that begins in related-gene gene-symbol ghr-page myotonia atrophica GTR C0027126
geographic and ethnic populations. In most populations, type 1 appears to be adulthood. DMPK https://ghr.nlm.nih.gov/gene/DMPK myotonia dystrophica db key
more common than type 2. However, recent studies suggest that type 2 may be as html:p Myotonic dystrophy is characterized by progressive muscle wasting and weakness. GTR C0752354
common as type 1 among people in Germany and Finland. People with this disorder often have prolonged muscle contractions (myotonia) db key
and are not able to relax certain muscles after use. For example, a person may GeneReviews myotonic-d
have difficulty releasing their grip on a doorknob or handle. Also, affected db key
people may have slurred speech or temporary locking of their jaw. GeneReviews myotonic-d2
html:p Other signs and symptoms of myotonic dystrophy include clouding of the lens of db key
the eye (cataracts) and abnormalities of the electrical signals that control the ICD-10-CM G71.11
heartbeat (cardiac conduction defects). In affected men, hormonal changes may db key
lead to early balding and an inability to father a child (infertility). The MeSH D009223
features of this disorder often develop during a person's twenties or thirties, db key
although they can occur at any age. The severity of the condition varies widely OMIM 160900
among affected people, even among members of the same family. db key
html:p There are two major types of myotonic dystrophy: type 1 and type 2. Their signs OMIM 602668
and symptoms overlap, although type 2 tends to be milder than type 1. The muscle db key
weakness associated with type 1 particularly affects the lower legs, hands, Orphanet 273
neck, and face. Muscle weakness in type 2 primarily involves the muscles of the db key
neck, shoulders, elbows, and hips. The two types of myotonic dystrophy are Orphanet 606
caused by mutations in different genes. db key
html:p A variation of type 1 myotonic dystrophy, called congenital myotonic dystrophy, SNOMED CT 195031006
is apparent at birth. Characteristic features include weak muscle tone db key
(hypotonia), an inward- and upward-turning foot (clubfoot), breathing problems, SNOMED CT 240104008
delayed development, and intellectual disability. Some of these health problems db key
can be life-threatening. SNOMED CT 77956009
related-gene-list
N-acetylglutamate synthase deficiency https://ghr.nlm.nih.gov/condition/n-acetylglutamate-synthase-deficiency N-acetylglutamate synthase deficiency is a very rare disorder. Only a few html:p N-acetylglutamate synthase deficiency is an inherited disorder that causes ar autosomal recessive NAGS https://ghr.nlm.nih.gov/gene/NAGS hyperammonemia, type III db key 2006-10 2017-12-29
N-乙酰谷氨酸合成酶缺乏症 cases have been reported worldwide, and the overall incidence is unknown. ammonia to accumulate in the blood. Ammonia, which is formed when proteins are N-acetylglutamate synthetase deficiency GTR C0268543
(Metabolic) broken down in the body, is toxic if the levels become too high. The nervous NAGS deficiency db key
system is especially sensitive to the effects of excess ammonia. GeneReviews ucd-overview
html:p N-acetylglutamate synthase deficiency may become evident in the first few days db key
of life. An infant with this condition may be lacking in energy (lethargic) or ICD-10-CM E72.29
unwilling to eat, and have a poorly controlled breathing rate or body db key
temperature. Some babies with this disorder may experience seizures or unusual MeSH D056806
body movements, or go into a coma. Complications of N-acetylglutamate synthase db key
deficiency may include developmental delay and intellectual disability. OMIM 237310
html:p In some affected individuals, signs and symptoms of N-acetylglutamate synthase db key
deficiency are less severe, and do not appear until later in life. Some people Orphanet 927
with this form of the disorder cannot tolerate high-protein foods such as meat. db key
They may experience sudden episodes of ammonia toxicity, resulting in vomiting, SNOMED CT 57119000
lack of coordination, confusion or coma, in response to illness or other stress.
related-gene-list
Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis https://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-derma NFJS/DPR is a rare condition; its prevalence is unknown. Only a few html:p Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ad autosomal dominant KRT14 https://ghr.nlm.nih.gov/gene/KRT14 DPR db key 2013-05 2017-12-29
topathia-pigmentosa-reticularis affected families have been reported in the medical literature. (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 Franceschetti-Jadassohn syndrome GTR C0343111
conditions characterized by abnormal development of ectodermal tissues including Naegeli-Franceschetti-Jadassohn syndrome db key
the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally Naegeli syndrome GTR C0406778
described as separate conditions; however, because they have similar features NFJ syndrome db key
and are caused by mutations in the same gene, they are now often considered NFJS MeSH D004476
forms of the same disorder. NFJS/DPR db key
html:p Among the most common signs of NFJS/DPR is a net-like pattern of dark brown or OMIM 125595
gray skin coloring, known as reticulate hyperpigmentation. This darker db key
pigmentation is seen most often on the neck, chest, and abdomen, although it can OMIM 161000
also occur in and around the eyes and mouth. Reticulate hyperpigmentation db key
appears in infancy or early childhood. It may fade with age or persist Orphanet 69087
throughout life. db key
html:p NFJS/DPR also affects the skin on the hands and feet. The skin on the palms of Orphanet 86920
the hands and soles of the feet often becomes thick, hard, and callused, a db key
condition known as palmoplantar keratoderma. Some affected individuals also have SNOMED CT 239084001
blistering on their palms and soles. Their fingernails and toenails may be db key
malformed, brittle, and either thicker or thinner than usual. Most affected SNOMED CT 239088003
individuals are missing the patterned ridges on the skin of the hands and feet,
called dermatoglyphs, that are the basis for each person's unique fingerprints.
html:p Additional features of NFJS/DPR can include a reduced ability to sweat
汗少/多症 (hypohidrosis) or excess sweating (hyperhidrosis) and dental abnormalities. Some
affected individuals also have hair loss (alopecia) on the scalp, eyebrows, and
underarms. The alopecia is described as noncicatricial because it does not
leave scars (cicatrices).
related-gene-list
Nager syndrome https://ghr.nlm.nih.gov/condition/nager-syndrome Nager syndrome is a rare condition. Its prevalence is unknown. More than 75 html:p Nager syndrome is a rare condition that mainly affects the development of the ad autosomal dominant SF3B4 https://ghr.nlm.nih.gov/gene/SF3B4 acrofacial dysostosis 1, Nager type db key 2017-08 2017-12-29
Nager 症候群 cases have been reported in the medical literature. face, hands, and arms. The severity of this disorder varies among affected code memo AFD1 GTR C0265245
individuals. ar autosomal recessive NAFD db key
html:p Children with Nager syndrome are born with underdeveloped cheek bones (malar Nager acrofacial dysostosis MeSH D003394
hypoplasia) and a very small lower jaw (micrognathia). They often have an Nager acrofacial dysostosis syndrome db key
opening in the roof of the mouth called a cleft palate. These abnormalities preaxial acrofacial dysostosis OMIM 154400
frequently cause feeding problems in infants with Nager syndrome. The airway is preaxial mandibulofacial dysostosis db key
usually partially blocked due to the micrognathia, which can lead to Orphanet 245
life-threatening breathing problems. db key
html:p People with Nager syndrome often have eyes that slant downward (downslanting SNOMED CT 35520007
palpebral fissures), no eyelashes, and a notch in the lower eyelids called an
eyelid coloboma. Many affected individuals have small or unusually formed ears,
and about 60 percent have hearing loss caused by defects in the middle ear
(conductive hearing loss). Nager syndrome does not affect a person's
intelligence, although speech development may be delayed due to hearing
impairment.
html:p Individuals with Nager syndrome have bone abnormalities in their hands and arms.
The most common abnormality is malformed or absent thumbs. Affected individuals
may also have fingers that are unusually curved (clinodactyly) or fused
together (syndactyly). Their forearms may be shortened due to the partial or
complete absence of a bone called the radius. People with Nager syndrome
sometimes have difficulty fully extending their elbows. This condition can also
cause bone abnormalities in the legs and feet.
html:p Less commonly, affected individuals have abnormalities of the heart, kidneys,
genitalia, and urinary tract.
related-gene-list
Nail-patella syndrome https://ghr.nlm.nih.gov/condition/nail-patella-syndrome The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 html:p Nail-patella syndrome is characterized by abnormalities of the nails, knees, ad autosomal dominant LMX1B https://ghr.nlm.nih.gov/gene/LMX1B Fong disease db key 2013-04 2017-12-29
指(趾)甲髕骨症候群 individuals. elbows, and pelvis. The features of nail-patella syndrome vary in severity hereditary onycho-osteodysplasia GTR C0027341
between affected individuals, even among members of the same family. hereditary osteo-onychodysplasia db key
html:p Nail abnormalities are seen in almost all individuals with nail-patella Osterreicher syndrome GeneReviews nail-ps
syndrome. The nails may be absent or underdeveloped and discolored, split, pelvic horn syndrome db key
ridged, or pitted. The fingernails are more likely to be affected than the Turner-Kieser syndrome MeSH D009261
toenails, and the thumbnails are usually the most severely affected. In many db key
people with this condition, the areas at the base of the nails (lunulae) are OMIM 137750
triangular instead of the usual crescent shape. db key
html:p Individuals with nail-patella syndrome also commonly have skeletal abnormalities OMIM 161200
involving the knees, elbows, and hips. The kneecaps (patellae) are small, db key
irregularly shaped, or absent, and dislocation of the patella is common. Some Orphanet 2614
people with this condition may not be able to fully extend their arms or turn db key
their palms up while keeping their elbows straight. The elbows may also be SNOMED CT 22199006
angled outward (cubitus valgus) or have abnormal webbing. Many individuals with
nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis
(iliac horns). These abnormal projections may be felt through the skin, but
they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac
horns are very common in people with nail-patella syndrome and are rarely, if
ever, seen in people without this condition.
html:p Other areas of the body may also be affected in nail-patella syndrome,
particularly the eyes and kidneys. Individuals with this condition are at risk
of developing increased pressure within the eyes (glaucoma) at an early age.
Some people develop kidney disease, which can progress to kidney failure.
related-gene-list
Nakajo-Nishimura syndrome https://ghr.nlm.nih.gov/condition/nakajo-nishimura-syndrome Nakajo-Nishimura syndrome appears to be rare and has been described only in html:p Nakajo-Nishimura syndrome is an inherited condition that affects many parts of ar autosomal recessive PSMB8 https://ghr.nlm.nih.gov/gene/PSMB8 ALDD db key 2013-11 2017-12-29
(Autoinflammatory) the Japanese population. About 30 cases have been reported in the medical the body and has been described only in the Japanese population. Beginning in autoinflammation, lipodystrophy, and dermatosis syndrome GTR C1850568
literature. infancy or early childhood, affected individuals develop red, swollen lumps Japanese autoinflammatory syndrome with lipodystrophy db key
(nodular erythema) on the skin that occur most often in cold weather; recurrent JASL MeSH D056660
fevers; and elongated fingers and toes with widened and rounded tips (clubbing). Nakajo syndrome db key
html:p Later in childhood, affected individuals develop joint pain and joint NKJO OMIM 256040
deformities called contractures that limit movement, particularly in the hands, db key
wrists, and elbows. They also experience weakness and wasting of muscles, along Orphanet 2615
with a loss of fatty tissue (lipodystrophy), mainly in the upper body. The db key
combination of muscle and fat loss worsens over time, leading to an extremely SNOMED CT 702449004
thin (emaciated) appearance in the face, chest, and arms.
html:p Other signs and symptoms of Nakajo-Nishimura syndrome can include an enlarged
liver and spleen (hepatosplenomegaly), a shortage of red blood cells (anemia), a
reduced amount of blood cell fragments called platelets (thrombocytopenia), and
abnormal deposits of calcium (calcification) in an area of the brain called the
basal ganglia. Intellectual disability has been reported in some affected
individuals.
html:p The signs and symptoms of Nakajo-Nishimura syndrome overlap with those of two
other conditions: one called joint contractures, muscular atrophy, microcytic
anemia, and panniculitis-induced lipodystrophy (JMP) syndrome; and the other
called chronic atypical neutrophilic dermatosis with lipodystrophy and elevated
temperature (CANDLE) syndrome. All three conditions are characterized by skin
abnormalities and lipodystrophy. Although they are often considered separate
disorders, they are caused by mutations in the same gene, and some researchers
believe they may represent different forms of a single condition.
Nance-Horan syndrome
南斯霍爾症
related-gene-list
Narcolepsy https://ghr.nlm.nih.gov/condition/narcolepsy Narcolepsy affects about 1 in 2,000 people in the United States and Western html:p Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake u pattern unknown CHKB https://ghr.nlm.nih.gov/gene/CHKB Gelineau syndrome db key 2010-12 2017-12-29
發作性嗜睡症 Europe. However, the disorder is likely underdiagnosed, particularly in people cycle. Although this condition can appear at any age, it most often begins in related-gene gene-symbol ghr-page narcoleptic syndrome GTR C1834372
渴睡症 with mild symptoms. Worldwide, narcolepsy appears to be most common in Japan, adolescence. CPT1B https://ghr.nlm.nih.gov/gene/CPT1B db key
猝睡症 where it affects an estimated 1 in 600 people. html:p Narcolepsy is characterized by excessive daytime sleepiness. Affected related-gene gene-symbol ghr-page GTR C1836907
individuals feel tired during the day, and several times a day they may HLA-DQA1 https://ghr.nlm.nih.gov/gene/HLA-DQA1 db key
experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual related-gene gene-symbol ghr-page GTR C1853901
times, such as during a meal or in the middle of a conversation. They last from HLA-DQB1 https://ghr.nlm.nih.gov/gene/HLA-DQB1 db key
a few seconds to a few minutes and often lead to a longer nap, after which related-gene gene-symbol ghr-page GTR C2676275
affected individuals wake up feeling refreshed. HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 db key
html:p Another common feature of narcolepsy is cataplexy, which is a sudden loss of related-gene gene-symbol ghr-page GTR C2748508
muscle tone in response to strong emotion (such as laughing, surprise, or TNF https://ghr.nlm.nih.gov/gene/TNF db key
anger). These episodes of muscle weakness can cause an affected person to slump related-gene gene-symbol ghr-page ICD-10-CM G47.4
over or fall, which occasionally leads to injury. Episodes of cataplexy usually TNFRSF1B https://ghr.nlm.nih.gov/gene/TNFRSF1B db key
last just a few seconds, and they may occur from several times a day to a few related-gene gene-symbol ghr-page ICD-10-CM G47.41
times a year. Most people diagnosed with narcolepsy also have cataplexy. TRA https://ghr.nlm.nih.gov/gene/TRA db key
However, some do not, which has led researchers to distinguish two major forms ICD-10-CM G47.42
of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy. db key
html:p Narcolepsy also affects nighttime sleep. Most affected individuals have trouble ICD-10-CM G47.411
sleeping for more than a few hours at night. They often experience vivid db key
hallucinations while falling asleep (hypnogogic hallucinations) or while waking ICD-10-CM G47.419
up (hypnopompic hallucinations). Affected individuals often have realistic and db key
distressing dreams, and they may act out their dreams by moving excessively or ICD-10-CM G47.421
talking in their sleep. Many people with narcolepsy also experience sleep db key
paralysis, which is an inability to move or speak for a short period while ICD-10-CM G47.429
falling asleep or awakening. The combination of hallucinations, vivid dreams, db key
and sleep paralysis is often frightening and unpleasant for affected MeSH D009290
individuals. db key
html:p Some people with narcolepsy have all of the major features of the disorder, OMIM 161400
while others have only one or two. Most of the signs and symptoms persist db key
throughout life, although episodes of cataplexy may become less frequent with OMIM 605841
age and treatment. db key
OMIM 609039
db key
OMIM 612417
db key
OMIM 612851
db key
Orphanet 2073
db key
Orphanet 83465
db key
SNOMED CT 193042000
db key
related-gene-list SNOMED CT 60380001
Nemaline myopathy https://ghr.nlm.nih.gov/condition/nemaline-myopathy Nemaline myopathy has an estimated incidence of 1 in 50,000 individuals. html:p Nemaline myopathy is a disorder that primarily affects skeletal muscles, which ad autosomal dominant ACTA1 https://ghr.nlm.nih.gov/gene/ACTA1 myopathies, nemaline db key 2015-12 2017-12-29
線狀體肌肉病變 are muscles that the body uses for movement. People with nemaline myopathy have code memo related-gene gene-symbol ghr-page myopathy, nemaline GTR C0206157
桿狀體肌肉病變 muscle weakness (myopathy) throughout the body, but it is typically most severe ar autosomal recessive CFL2 https://ghr.nlm.nih.gov/gene/CFL2 nemaline body disease db key
in the muscles of the face; neck; trunk; and other muscles close to the center related-gene gene-symbol ghr-page nemaline rod disease GTR C1834336
of the body (proximal muscles), such as those of the upper arms and legs. This KBTBD13 https://ghr.nlm.nih.gov/gene/KBTBD13 rod body disease db key
weakness can worsen over time. Affected individuals may have feeding and related-gene gene-symbol ghr-page rod-body myopathy GTR C1836447
swallowing difficulties, foot deformities, abnormal curvature of the spine KLHL40 https://ghr.nlm.nih.gov/gene/KLHL40 rod myopathy db key
(scoliosis), and joint deformities (contractures). Most people with nemaline related-gene gene-symbol ghr-page GTR C1836448
myopathy are able to walk, although some affected children may begin walking KLHL41 https://ghr.nlm.nih.gov/gene/KLHL41 db key
later than usual. As the condition progresses, some people may require related-gene gene-symbol ghr-page GTR C1836472
wheelchair assistance. In severe cases, the muscles used for breathing are LMOD3 https://ghr.nlm.nih.gov/gene/LMOD3 db key
affected and life-threatening breathing difficulties can occur. related-gene gene-symbol ghr-page GTR C1850569
html:p Nemaline myopathy is divided into six types. In order of decreasing severity, NEB https://ghr.nlm.nih.gov/gene/NEB db key
the types are: severe congenital, Amish, intermediate congenital, typical related-gene gene-symbol ghr-page GTR C1853154
congenital, childhood-onset, and adult-onset. The types are distinguished by the TNNT1 https://ghr.nlm.nih.gov/gene/TNNT1 db key
age when symptoms first appear and the severity of symptoms; however, there is related-gene gene-symbol ghr-page GTR C1854380
overlap among the various types. The severe congenital type is the most TPM2 https://ghr.nlm.nih.gov/gene/TPM2 db key
life-threatening. Most individuals with this type do not survive past early related-gene gene-symbol ghr-page GTR C3809209
childhood due to respiratory failure. The Amish type solely affects the Old TPM3 https://ghr.nlm.nih.gov/gene/TPM3 db key
Order Amish population of Pennsylvania and is typically fatal in early GTR C3810384
childhood. The most common type of nemaline myopathy is the typical congenital db key
type, which is characterized by muscle weakness and feeding problems beginning GTR C4015360
in infancy. Most of these individuals do not have severe breathing problems and db key
can walk unassisted. People with the childhood-onset type usually develop muscle GeneReviews nem
weakness in adolescence. The adult-onset type is the mildest of all the various db key
types. People with this type usually develop muscle weakness between ages 20 ICD-10-CM G71.2
and 50. db key
MeSH D017696
db key
OMIM 161800
db key
OMIM 256030
db key
OMIM 605355
db key
OMIM 609273
db key
OMIM 609284
db key
OMIM 609285
db key
OMIM 610687
db key
OMIM 615348
db key
OMIM 615731
db key
OMIM 616165
db key
Orphanet 607
db key
Orphanet 171430
db key
Orphanet 171433
db key
Orphanet 171436
db key
Orphanet 171439
db key
Orphanet 171442
db key
Orphanet 207009
db key
Orphanet 98902
db key
related-gene-list SNOMED CT 75072002
Neonatal onset multisystem inflammatory disease https://ghr.nlm.nih.gov/condition/neonatal-onset-multisystem-inflammatory-disease NOMID is a very rare disorder; approximately 100 affected individuals have html:p Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that ad autosomal dominant NLRP3 https://ghr.nlm.nih.gov/gene/NLRP3 chronic infantile neurologic, cutaneous, and articular syndrome db key 2008-09 2017-12-29
儿发病的多系统炎症性疾病 e been reported worldwide. causes persistent inflammation and tissue damage primarily affecting the nervous chronic infantile neurological, cutaneous and articular syndrome GTR C0409818
system, skin, and joints. Recurrent episodes of mild fever may also occur in chronic neurologic, cutaneous, and articular syndrome db key
this disorder. CINCA MeSH D056587
html:p People with NOMID have a skin rash that is usually present from birth. The rash CINCA syndrome db key
persists throughout life, although it changes in size and location. infantile onset multisystem inflammatory disease OMIM 607115
html:p Affected individuals often have headaches, seizures, and vomiting resulting from IOMID syndrome db key
chronic meningitis, which is inflammation of the tissue that covers and NOMID Orphanet 1451
protects the brain and spinal cord (meninges). Intellectual disability may occur Prieur-Griscelli syndrome db key
in some people with this disorder. Hearing and vision problems may result from SNOMED CT 239826001
nerve damage and inflammation in various tissues of the eyes. db key
html:p People with NOMID experience joint inflammation, swelling, and cartilage SNOMED CT 430079001
overgrowth, causing characteristic prominent knees and other skeletal
abnormalities that worsen over time. Joint deformities called contractures may
restrict the movement of certain joints.
html:p Other features of this disorder include short stature with shortening of the
lower legs and forearms, and characteristic facial features such as a prominent
forehead and protruding eyes. Abnormal deposits of a protein called amyloid
(amyloidosis) may cause progressive kidney damage.
related-gene-list
Nephrogenic diabetes insipidus, NDI https://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus The prevalence of nephrogenic diabetes insipidus is unknown, although the html:p Nephrogenic diabetes insipidus is a disorder of water balance. The body normally ad autosomal dominant AQP2 https://ghr.nlm.nih.gov/gene/AQP2 ADH-resistant diabetes insipidus db key 2010-04 2017-12-29
腎性尿崩症 condition is thought to be rare. The acquired form occurs more frequently than balances fluid intake with the excretion of fluid in urine. However, people code memo related-gene gene-symbol ghr-page congenital nephrogenic diabetes insipidus GTR C0162283
the hereditary form. with nephrogenic diabetes insipidus produce too much urine (polyuria), which ar autosomal recessive AVPR2 https://ghr.nlm.nih.gov/gene/AVPR2 diabetes insipidus renalis db key
causes them to be excessively thirsty (polydipsia). Affected individuals can code memo diabetes insipidus, nephrogenic GTR C1563705
quickly become dehydrated if they do not drink enough water, especially in hot xr X-linked recessive NDI db key
weather or when they are sick. vasopressin-resistant diabetes insipidus GTR C1563706
html:p Nephrogenic diabetes insipidus can be either acquired or hereditary. The db key
acquired form is brought on by certain drugs and chronic diseases and can occur GeneReviews ndi
at any time during life. The hereditary form is caused by genetic mutations, and db key
its signs and symptoms usually become apparent within the first few months of ICD-10-CM N25.1
life. db key
html:p Infants with hereditary nephrogenic diabetes insipidus may eat poorly and fail MeSH D018500
to gain weight and grow at the expected rate (failure to thrive). They may also db key
be irritable and experience fevers, diarrhea, and vomiting. Recurrent episodes OMIM 125800
of dehydration can lead to slow growth and delayed development. If the condition db key
is not well-managed, over time it can damage the bladder and kidneys leading to OMIM 304800
pain, infections, and kidney failure. With appropriate treatment, affected db key
individuals usually have few complications and a normal lifespan. Orphanet 223
html:p Nephrogenic diabetes insipidus should not be confused with diabetes mellitus, db key
which is much more common. Diabetes mellitus is characterized by high blood SNOMED CT 111395007
sugar levels resulting from a shortage of the hormone insulin or an db key
insensitivity to this hormone. Although nephrogenic diabetes insipidus and SNOMED CT 61165007
diabetes mellitus have some features in common, they are separate disorders with db key
different causes. SNOMED CT 81475007
related-gene-list
Nephronophthisis https://ghr.nlm.nih.gov/condition/nephronophthisis Nephronophthisis is found in populations worldwide. It occurs in an html:p Nephronophthisis is a disorder that affects the kidneys. It is characterized by ar autosomal recessive ANKS6 https://ghr.nlm.nih.gov/gene/ANKS6 NPH db key 2014-09 2017-12-29
腎消耗病 estimated 1 in 50,000 newborns in Canada, 1 in 100,000 in Finland, and 1 in inflammation and scarring (fibrosis) that impairs kidney function. These related-gene gene-symbol ghr-page NPHP GTR C0687120
922,000 in the United States. Its incidence in other populations is unknown. abnormalities lead to increased urine production (polyuria), excessive thirst CEP83 https://ghr.nlm.nih.gov/gene/CEP83 db key
Nephronophthisis is the most common genetic cause of ESRD in children and young (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, related-gene gene-symbol ghr-page GTR C1847013
adults. affected individuals develop fluid-filled cysts in the kidneys, usually in an CEP164 https://ghr.nlm.nih.gov/gene/CEP164 db key
area known as the corticomedullary region. Another feature of nephronophthisis related-gene gene-symbol ghr-page GTR C1855681
is a shortage of red blood cells, a condition known as anemia. GLIS2 https://ghr.nlm.nih.gov/gene/GLIS2 db key
html:p Nephronophthisis eventually leads to end-stage renal disease (ESRD), a related-gene gene-symbol ghr-page GTR C1858392
life-threatening failure of kidney function that occurs when the kidneys are no INVS https://ghr.nlm.nih.gov/gene/INVS db key
longer able to filter fluids and waste products from the body effectively. related-gene gene-symbol ghr-page GTR C1865872
Nephronophthisis can be classified by the approximate age at which ESRD begins: NEK8 https://ghr.nlm.nih.gov/gene/NEK8 db key
around age 1 (infantile), around age 13 (juvenile), and around age 19 related-gene gene-symbol ghr-page GTR C1969092
(adolescent). NPHP1 https://ghr.nlm.nih.gov/gene/NPHP1 db key
html:p About 85 percent of all cases of nephronophthisis are isolated, which means they related-gene gene-symbol ghr-page GTR C3150796
occur without other signs and symptoms. Some people with nephronophthisis have NPHP3 https://ghr.nlm.nih.gov/gene/NPHP3 db key
additional features, which can include liver fibrosis, heart abnormalities, or related-gene gene-symbol ghr-page GTR C3151186
mirror image reversal of the position of one or more organs inside the body NPHP4 https://ghr.nlm.nih.gov/gene/NPHP4 db key
(situs inversus). related-gene gene-symbol ghr-page GTR C3151188
html:p Nephronophthisis can occur as part of separate syndromes that affect other areas TMEM67 https://ghr.nlm.nih.gov/gene/TMEM67 db key
of the body; these are often referred to as nephronophthisis-associated related-gene gene-symbol ghr-page GTR C3539071
ciliopathies. For example, Senior-Løken syndrome is characterized by the TTC21B https://ghr.nlm.nih.gov/gene/TTC21B db key
combination of nephronophthisis and a breakdown of the light-sensitive tissue at related-gene gene-symbol ghr-page GTR C3541853
the back of the eye (retinal degeneration); Joubert syndrome affects many parts WDR19 https://ghr.nlm.nih.gov/gene/WDR19 db key
of the body, causing neurological problems and other features, which can related-gene gene-symbol ghr-page GTR C3809320
include nephronophthisis. ZNF423 https://ghr.nlm.nih.gov/gene/ZNF423 db key
GTR C3890591
db key
GeneReviews nephron-ov
db key
MeSH D052177
db key
OMIM 256100
db key
OMIM 602088
db key
OMIM 604387
db key
OMIM 606966
db key
OMIM 611498
db key
OMIM 613550
db key
OMIM 613820
db key
OMIM 613824
db key
OMIM 614377
db key
OMIM 614844
db key
OMIM 614845
db key
OMIM 615382
db key
OMIM 615862
db key
Orphanet 655
db key
related-gene-list SNOMED CT 204958008
Netherton syndrome https://ghr.nlm.nih.gov/condition/netherton-syndrome Netherton syndrome is estimated to affect 1 in 200,000 newborns. html:p Netherton syndrome is a disorder that affects the skin, hair, and immune system. ar autosomal recessive SPINK5 https://ghr.nlm.nih.gov/gene/SPINK5 bamboo hair syndrome db key 2014-03 2017-12-29
Netherton综合征 Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform Comel-Netherton syndrome GTR C0265962
Netherton 症候群 erythroderma), and the skin may leak fluid. Some affected infants are born with ichthyosiform erythroderma with hypotrichosis and hyper-IgE db key
魚鱗樣紅皮病─竹髮─遺傳過敏綜合症 a tight, clear sheath covering their skin called a collodion membrane. This ichthyosis linearis circumflexa MeSH D056770
membrane is usually shed during the first few weeks of life. Because newborns ILC db key
with this disorder are missing the protection provided by normal skin, they are NETH OMIM 256500
at risk of becoming dehydrated and developing infections in the skin or Netherton disease db key
throughout the body (sepsis), which can be life-threatening. Affected babies may NS Orphanet 634
also fail to grow and gain weight at the expected rate (failure to thrive). The db key
health of older children and adults with Netherton syndrome usually improves, SNOMED CT 312514006
although they often remain underweight and of short stature.
html:p After infancy, the severity of the skin abnormalities varies among people with
Netherton syndrome and can fluctuate over time. The skin may continue to be red
and scaly, especially during the first few years of life. Some affected
individuals have intermittent redness or experience outbreaks of a distinctive
skin abnormality called ichthyosis linearis circumflexa, involving patches of
multiple ring-like lesions. The triggers for the outbreaks are not known, but
researchers suggest that stress or infections may be involved.
html:p Itchiness is a common problem for affected individuals, and scratching can lead
to frequent infections. Dead skin cells are shed at an abnormal rate and often
accumulate in the ear canals, which can affect hearing if not removed regularly.
The skin is abnormally absorbent of substances such as lotions and ointments,
which can result in excessive blood levels of some topical medications. Because
the ability of the skin to protect against heat and cold is impaired, affected
individuals may have difficulty regulating their body temperature.
html:p People with Netherton syndrome have hair that is fragile and breaks easily. Some
strands of hair vary in diameter, with thicker and thinner spots. This feature
is known as bamboo hair, trichorrhexis nodosa, or trichorrhexis invaginata. In
addition to the hair on the scalp, the eyelashes and eyebrows may be affected.
The hair abnormality in Netherton syndrome may not be noticed in infancy because
babies often have sparse hair.
html:p Most people with Netherton syndrome have immune system-related problems such as
food allergies, hay fever, asthma, or an inflammatory skin disorder called
eczema.
related-gene-list
Neuroblastoma https://ghr.nlm.nih.gov/condition/neuroblastoma Neuroblastoma is the most common cancer in infants younger than 1 year. It html:p Neuroblastoma is a type of cancer that most often affects children. ad autosomal dominant ALK https://ghr.nlm.nih.gov/gene/ALK NB db key 2011-03 2017-12-29
神經母細胞瘤 occurs in 1 in 100,000 children and is diagnosed in about 650 children each year Neuroblastoma occurs when immature nerve cells called neuroblasts become code memo related-gene gene-symbol ghr-page GTR C0027819
(Cancer) in the United States. abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor n not inherited BARD1 https://ghr.nlm.nih.gov/gene/BARD1 db key
originates in the nerve tissue of the adrenal gland located above each kidney. related-gene gene-symbol ghr-page GTR C2751681
Other common sites for tumors to form include the nerve tissue in the abdomen, ERBB2 https://ghr.nlm.nih.gov/gene/ERBB2 db key
chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of related-gene gene-symbol ghr-page GTR C2751682
the body such as the bones, liver, or skin. KIF1B https://ghr.nlm.nih.gov/gene/KIF1B db key
html:p Individuals with neuroblastoma may develop general signs and symptoms such as related-gene gene-symbol ghr-page GeneReviews alk-nbs
irritability, fever, tiredness (fatigue), pain, loss of appetite, weight loss, LMO1 https://ghr.nlm.nih.gov/gene/LMO1 db key
or diarrhea. More specific signs and symptoms depend on the location of the related-gene gene-symbol ghr-page MeSH D009447
tumor and where it has spread. A tumor in the abdomen can cause abdominal MYCN https://ghr.nlm.nih.gov/gene/MYCN db key
swelling. A tumor in the chest may lead to difficulty breathing. A tumor in the related-gene gene-symbol ghr-page OMIM 256700
neck can cause nerve damage known as Horner syndrome, which leads to drooping PHOX2B https://ghr.nlm.nih.gov/gene/PHOX2B db key
eyelids, small pupils, decreased sweating, and red skin. Tumor metastasis to the related-chromosome name ghr-page OMIM 613013
bone can cause bone pain, bruises, pale skin, or dark circles around the eyes. 1 https://ghr.nlm.nih.gov/chromosome/1 db key
Tumors in the backbone can press on the spinal cord and cause weakness, related-chromosome name ghr-page OMIM 613014
numbness, or paralysis in the arms or legs. A rash of bluish or purplish bumps 11 https://ghr.nlm.nih.gov/chromosome/11 db key
that look like blueberries indicates that the neuroblastoma has spread to the Orphanet 635
skin. db key
html:p In addition, neuroblastoma tumors can release hormones that may cause other SNOMED CT 432328008
signs and symptoms such as high blood pressure, rapid heartbeat, flushing of the db key
skin, and sweating. In rare instances, individuals with neuroblastoma may SNOMED CT 87364003
develop opsoclonus myoclonus syndrome, which causes rapid eye movements and
jerky muscle motions. This condition occurs when the immune system malfunctions
and attacks nerve tissue.
html:p Neuroblastoma occurs most often in children before age 5 and rarely occurs in
adults.
related-gene-list
Neuroferritinopathy https://ghr.nlm.nih.gov/condition/neuroferritinopathy The prevalence of neuroferritinopathy is unknown. Fewer than 100 html:p Neuroferritinopathy is a disorder in which iron gradually accumulates in the ad autosomal dominant FTL https://ghr.nlm.nih.gov/gene/FTL basal ganglia disease, adult-onset db key 2014-08 2017-12-29
individuals with this disorder have been reported. brain. Certain brain regions that help control movement (basal ganglia) are ferritin-related neurodegeneration GTR C1853578
particularly affected. People with neuroferritinopathy have progressive problems hereditary ferritinopathy db key
with movement that begin at about age 40. These movement problems can include NBIA3 GeneReviews neuroferritin
involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty neurodegeneration with brain iron accumulation 3 db key
coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). MeSH D001796
Symptoms of the disorder may be more apparent on one side of the body than on db key
the other. Affected individuals may also have difficulty swallowing (dysphagia) OMIM 606159
and speaking (dysarthria). db key
html:p Intelligence is unaffected in most people with neuroferritinopathy, but some Orphanet 385
individuals develop a gradual decline in thinking and reasoning abilities db key
(dementia). Personality changes such as reduced inhibitions and difficulty SNOMED CT 699299001
controlling emotions may also occur as the disorder progresses.
related-gene-list
Neurofibromatosis type 1, NF 1 https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1 Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide. html:p Neurofibromatosis type 1 is a condition characterized by changes in skin ad autosomal dominant NF1 https://ghr.nlm.nih.gov/gene/NF1 Neurofibromatosis 1 db key 2012-07 2017-12-29
神經性纖維瘤第一型 coloring (pigmentation) and the growth of tumors along nerves in the skin, NF1 GTR C0027831
brain, and other parts of the body. The signs and symptoms of this condition Peripheral Neurofibromatosis db key
vary widely among affected people. Recklinghausen Disease, Nerve GeneReviews nf1
html:p Beginning in early childhood, almost all people with neurofibromatosis type 1 von Recklinghausen Disease db key
have multiple café-au-lait spots, which are flat patches on the skin that are ICD-10-CM Q85.0
darker than the surrounding area. These spots increase in size and number as the db key
individual grows older. Freckles in the underarms and groin typically develop ICD-10-CM Q85.00
later in childhood. db key
html:p Most adults with neurofibromatosis type 1 develop neurofibromas, which are ICD-10-CM Q85.01
noncancerous (benign) tumors that are usually located on or just under the skin. db key
These tumors may also occur in nerves near the spinal cord or along nerves MeSH D009456
elsewhere in the body. Some people with neurofibromatosis type 1 develop db key
cancerous tumors that grow along nerves. These tumors, which usually develop in OMIM 162200
adolescence or adulthood, are called malignant peripheral nerve sheath tumors. db key
People with neurofibromatosis type 1 also have an increased risk of developing Orphanet 636
other cancers, including brain tumors and cancer of blood-forming tissue db key
(leukemia). SNOMED CT 92824003
html:p During childhood, benign growths called Lisch nodules often appear in the
colored part of the eye (the iris). Lisch nodules do not interfere with vision.
Some affected individuals also develop tumors that grow along the nerve leading
from the eye to the brain (the optic nerve). These tumors, which are called
optic gliomas, may lead to reduced vision or total vision loss. In some cases,
optic gliomas have no effect on vision.
html:p Additional signs and symptoms of neurofibromatosis type 1 include high blood
pressure (hypertension), short stature, an unusually large head (macrocephaly),
and skeletal abnormalities such as an abnormal curvature of the spine
(scoliosis). Although most people with neurofibromatosis type 1 have normal
intelligence, learning disabilities and attention deficit hyperactivity disorder
(ADHD) occur frequently in affected individuals.
related-gene-list
Neurofibromatosis type 2 https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2 Neurofibromatosis type 2 has an estimated incidence of 1 in 33,000 people html:p Neurofibromatosis type 2 is a disorder characterized by the growth of ad autosomal dominant NF2 https://ghr.nlm.nih.gov/gene/NF2 BANF db key 2013-12 2017-12-29
神經性纖維瘤第2型 worldwide. noncancerous tumors in the nervous system. The most common tumors associated bilateral acoustic neurofibromatosis GTR C0027832
with neurofibromatosis type 2 are called vestibular schwannomas or acoustic central neurofibromatosis db key
neuromas. These growths develop along the nerve that carries information from familial acoustic neuromas GeneReviews nf2
the inner ear to the brain (the auditory nerve). Tumors that occur on other neurofibromatosis 2 db key
nerves are also commonly found with this condition. neurofibromatosis type II ICD-10-CM Q85.0
html:p The signs and symptoms of neurofibromatosis type 2 usually appear during NF2 db key
adolescence or in a person's early twenties, although they can begin at any age. schwannoma, acoustic, bilateral ICD-10-CM Q85.00
The most frequent early symptoms of vestibular schwannomas are hearing loss, db key
ringing in the ears (tinnitus), and problems with balance. In most cases, these ICD-10-CM Q85.02
tumors occur in both ears by age 30. If tumors develop elsewhere in the nervous db key
system, signs and symptoms vary according to their location. Complications of ICD-10-CM Q85.03
tumor growth can include changes in vision, numbness or weakness in the arms or db key
legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 MeSH D016518
also develop clouding of the lens (cataracts) in one or both eyes, often db key
beginning in childhood. OMIM 101000
db key
Orphanet 637
db key
related-gene-list SNOMED CT 92503002
Neurohypophyseal diabetes insipidus https://ghr.nlm.nih.gov/condition/neurohypophyseal-diabetes-insipidus Neurohypophyseal diabetes insipidus is thought to be rare, although its html:p Neurohypophyseal diabetes insipidus is a disorder of water balance. The body ad autosomal dominant AVP https://ghr.nlm.nih.gov/gene/AVP central diabetes insipidus db key 2010-04 2017-12-29
exact incidence is unknown. The acquired form occurs much more frequently than normally balances fluid intake with the excretion of fluid in urine. However, code memo diabetes insipidus secondary to vasopressin deficiency GTR C0687720
the familial form. people with neurohypophyseal diabetes insipidus produce too much urine ar autosomal recessive diabetes insipidus, central db key
(polyuria), which causes them to be excessively thirsty (polydipsia). Affected diabetes insipidus, neurogenic ICD-10-CM E23.2
people need to urinate frequently, which can disrupt daily activities and sleep. diabetes insipidus, neurohypophyseal db key
html:p People with neurohypophyseal diabetes insipidus can quickly become dehydrated if diabetes insipidus, pituitary MeSH D020790
they do not drink enough water. Dehydration can lead to constipation and dry pituitary diabetes insipidus db key
skin. If the disorder is not treated, more serious complications of dehydration vasopressin defective diabetes insipidus OMIM 125700
can occur. These include confusion, low blood pressure, seizures, and coma. vasopressin deficiency db key
html:p Neurohypophyseal diabetes insipidus can be either acquired or familial. The Orphanet 178029
acquired form is brought on by injuries, tumors, and other factors, and can db key
occur at any time during life. The familial form is caused by genetic mutations; SNOMED CT 45369008
its signs and symptoms usually become apparent in childhood and worsen over
time.
html:p Neurohypophyseal diabetes insipidus should not be confused with diabetes
mellitus, which is much more common. Diabetes mellitus is characterized by high
blood sugar levels resulting from a shortage of the hormone insulin or an
insensitivity to this hormone. Although neurohypophyseal diabetes insipidus and
diabetes mellitus have some features in common, they are separate disorders with
different causes.
synonym-list db-key-list
Neuromyelitis optica https://ghr.nlm.nih.gov/condition/neuromyelitis-optica Neuromyelitis optica affects approximately 1 to 2 per 100,000 people html:p Neuromyelitis optica is an autoimmune disorder that affects the nerves of the u pattern unknown synonym Devic neuromyelitis optica key 2017-12-29
視神經脊髓炎 worldwide. Women are affected by this condition more frequently than men. eyes and the central nervous system, which includes the brain and spinal cord. synonym Devic syndrome db-key C0027873
Autoimmune disorders occur when the immune system malfunctions and attacks the synonym Devic's disease key
body's own tissues and organs. In neuromyelitis optica, the autoimmune attack synonym optic-spinal MS db-key G36.0
causes inflammation of the nerves, and the resulting damage leads to the signs synonym opticospinal MS key
and symptoms of the condition. db-key D009471
html:p Neuromyelitis optica is characterized by optic neuritis, which is inflammation key
of the nerve that carries information from the eye to the brain (optic nerve). db-key 600308
Optic neuritis causes eye pain and vision loss, which can occur in one or both key
eyes. db-key 71211
html:p Neuromyelitis optica is also characterized by transverse myelitis, which is key
inflammation of the spinal cord. The inflammation associated with transverse 25044007
myelitis damages the spinal cord, causing a lesion that often extends the length
of three or more bones of the spine (vertebrae). In addition, myelin, which is
the covering that protects nerves and promotes the efficient transmission of
nerve impulses, can be damaged. Transverse myelitis causes weakness, numbness,
and paralysis of the arms and legs. Other effects of spinal cord damage can
include disturbances in sensations, loss of bladder and bowel control,
uncontrollable hiccupping, and nausea. In addition, muscle weakness may make
breathing difficult and can cause life-threatening respiratory failure in people
with neuromyelitis optica.
html:p There are two forms of neuromyelitis optica, the relapsing form and the
monophasic form. The relapsing form is most common. This form is characterized
by recurrent episodes of optic neuritis and transverse myelitis. These episodes
can be months or years apart, and there is usually partial recovery between
episodes. However, most affected individuals eventually develop permanent muscle
weakness and vision impairment that persist even between episodes. For unknown
reasons, approximately nine times more women than men have the relapsing form.
The monophasic form, which is less common, causes a single episode of
neuromyelitis optica that can last several months. People with this form of the
condition can also have lasting muscle weakness or paralysis and vision loss.
This form affects men and women equally. The onset of either form of
neuromyelitis optica can occur anytime from childhood to adulthood, although the
condition most frequently begins in a person's forties.
html:p Approximately one-quarter of individuals with neuromyelitis optica have signs or
symptoms of another autoimmune disorder such as myasthenia gravis, systemic
lupus erythematosus, or Sjögren syndrome. Some scientists believe that a
condition described in Japanese patients as optic-spinal multiple sclerosis (or
opticospinal multiple sclerosis) that affects the nerves of the eyes and central
nervous system is the same as neuromyelitis optica.
Neuronal ceroid lipofuscinosis,NCLs
神經元蠟樣脂褐質儲積症
related-gene-list
Neuropathy, ataxia, and retinitis pigmentosa https://ghr.nlm.nih.gov/condition/neuropathy-ataxia-and-retinitis-pigmentosa The prevalence of NARP is unknown. This disorder is probably less common html:p Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a m mitochondrial MT-ATP6 https://ghr.nlm.nih.gov/gene/MT-ATP6 NARP db key 2006-11 2017-12-29
than a similar but more severe condition, Leigh syndrome, which affects about 1 variety of signs and symptoms chiefly affecting the nervous system. Beginning related-mitochondrial-dna name ghr-page NARP syndrome GTR C1838914
in 40,000 people. in childhood or early adulthood, most people with NARP experience numbness, mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna neurogenic muscle weakness, ataxia, and retinitis pigmentosa db key
tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; neuropathy, ataxia, and retinitis pigmentos GeneReviews mt-overview
and problems with balance and coordination (ataxia). Many affected individuals db key
also have vision loss caused by changes in the light-sensitive tissue that lines GeneReviews narp
the back of the eye (the retina). In some cases, the vision loss results from db key
a condition called retinitis pigmentosa. This eye disease causes the ICD-10-CM E88.49
light-sensing cells of the retina gradually to deteriorate. db key
html:p Learning disabilities and developmental delays are often seen in children with MeSH D028361
NARP, and older individuals with this condition may experience a loss of db key
intellectual function (dementia). Other features of NARP include seizures, OMIM 551500
hearing loss, and abnormalities of the electrical signals that control the db key
heartbeat (cardiac conduction defects). These signs and symptoms vary among Orphanet 644
affected individuals. db key
related-gene-list SNOMED CT 237984008
Neutral lipid storage disease with myopathy https://ghr.nlm.nih.gov/condition/neutral-lipid-storage-disease-with-myopathy Neutral lipid storage disease with myopathy is a rare condition; its html:p Neutral lipid storage disease with myopathy is a condition in which fats ar autosomal recessive PNPLA2 https://ghr.nlm.nih.gov/gene/PNPLA2 neutral lipid storage disease without ichthyosis db key 2014-02 2017-12-29
中性脂肪沉積症 incidence is unknown. (lipids) are stored abnormally in organs and tissues throughout the body. NLSDM GTR C1853136
People with this condition have muscle weakness (myopathy) due to the db key
accumulation of fats in muscle tissue. Other features of this condition may MeSH D008052
include a fatty liver, a weakened and enlarged heart (cardiomyopathy), db key
inflammation of the pancreas (pancreatitis), reduced thyroid activity OMIM 610717
(hypothyroidism), and type 2 diabetes (the most common form of diabetes). Signs db key
and symptoms of neutral lipid storage disease with myopathy vary greatly among Orphanet 165
affected individuals. db key
inheritance-pattern-list SNOMED CT 699315005
NGLY1-congenital disorder of deglycosylation https://ghr.nlm.nih.gov/condition/ngly1-congenital-disorder-of-deglycosylation NGLY1-CDDG is a rare disorder. At least 46 individuals with the condition html:p html:i -CDDG) is an inherited condition that affects many parts of the body. The ar autosomal recessive gene-symbol synonym congenital disorder of deglycosylation db-key db key 2017-08 2017-12-29
have been described in the medical literature. NGLY1 severity of the signs and symptoms varies widely among people with the NGLY1 synonym deficiency of N-glycanase 1 GTR C3808991
condition. synonym NGLY1-CDDG db-key db key
html:p Individuals with NGLY1-CDDG typically develop features of the condition during infancy. MeSH D002239
NGLY1 db-key db key
OMIM 615273
-CDDG may also have problems with liver function. Some affected individuals have
eye abnormalities, including degeneration of the nerves that carry information
from the eyes to the brain (optic atrophy) and changes in the light-sensing
tissue at the back of the eye (the retina). A reduction or absence of tears
html:i -CDDG.
NGLY1
related-gene-list
Nicolaides-Baraitser syndrome https://ghr.nlm.nih.gov/condition/nicolaides-baraitser-syndrome Nicolaides-Baraitser syndrome is likely a rare condition; approximately 75 html:p Nicolaides-Baraitser syndrome is a condition that affects many body systems. ad autosomal dominant SMARCA2 https://ghr.nlm.nih.gov/gene/SMARCA2 NBS db key 2015-12 2017-12-29
Nicolaides-Baraitser综合征 cases have been reported in the scientific literature. Affected individuals can have a wide variety of signs and symptoms, but the most NCBRS GTR C1303073
common are sparse scalp hair, small head size (microcephaly), distinct facial db key
features, short stature, prominent finger joints, unusually short fingers and GeneReviews nbs
toes (brachydactyly), recurrent seizures (epilepsy), and moderate to severe db key
intellectual disability with impaired language development. MeSH D000015
html:p In people with Nicolaides-Baraitser syndrome, the sparse scalp hair is often db key
noticeable in infancy. The amount of hair decreases over time, but the growth MeSH D008607
rate and texture of the hair that is present is normal. Affected adults db key
generally have very little hair. In rare cases, the amount of scalp hair OMIM 601358
increases over time. As affected individuals age, their eyebrows may become less db key
full, but their eyelashes almost always remain normal. At birth, the hair on Orphanet 3051
the face may be abnormally thick (hypertrichosis) but thins out over time. db key
html:p Most affected individuals grow slowly, resulting in short stature and SNOMED CT 401046009
microcephaly. Sometimes, growth before birth is unusually slow.
html:p The characteristic facial features of people with Nicolaides-Baraitser syndrome
include a triangular face, deep-set eyes, a thin nasal bridge, wide nostrils, a
pointed nasal tip, and a thick lower lip. Many affected individuals have a lack
of fat under the skin (subcutaneous fat) of the face, which may cause premature
wrinkling. Throughout their bodies, people with Nicolaides-Baraitser syndrome
may have pale skin with veins that are visible on the skin surface due to the
lack of subcutaneous fat.
html:p In people with Nicolaides-Baraitser syndrome, a lack of subcutaneous fat in the
hands makes the finger joints appear larger than normal. Over time, the
fingertips become broad and oval shaped. Additionally, there is a wide gap
between the first and second toes (known as a sandal gap).
html:p Most people with Nicolaides-Baraitser syndrome have epilepsy, which often begins
in infancy. Affected individuals can experience multiple seizure types, and the
seizures can be difficult to control with medication.
html:p Almost everyone with Nicolaides-Baraitser syndrome has moderate to severe
intellectual disability. Early developmental milestones, such as crawling and
walking, are often normally achieved, but further development is limited, and
language development is severely impaired. At least one-third of affected
individuals never develop speech, while others lose their verbal communication
over time. People with this condition are often described as having a happy
demeanor and being very friendly, although they can exhibit moments of
aggression and temper tantrums.
html:p Other signs and symptoms of Nicolaides-Baraitser syndrome include an
inflammatory skin disorder called eczema. About half of individuals with
Nicolaides-Baraitser syndrome have a soft out-pouching around the belly-button
(umbilical hernia) or lower abdomen (inguinal hernia). Some affected individuals
have dental abnormalities such as widely spaced teeth, delayed eruption of
teeth, and absent teeth (hypodontia). Most affected males have undescended
testes (cryptorchidism) and females may have underdeveloped breasts. Nearly half
of individuals with Nicolaides-Baraitser syndrome have feeding problems.
related-gene-list
Niemann-Pick disease https://ghr.nlm.nih.gov/condition/niemann-pick-disease Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 html:p Niemann-Pick disease is a condition that affects many body systems. It has a ar autosomal recessive NPC1 https://ghr.nlm.nih.gov/gene/NPC1 lipid histiocytosis db key 2015-01 2017-12-29
尼曼匹克症 individuals. Niemann-Pick disease type A occurs more frequently among wide range of symptoms that vary in severity. Niemann-Pick disease is divided related-gene gene-symbol ghr-page neuronal cholesterol lipidosis GTR C0028064
individuals of Ashkenazi (eastern and central European) Jewish descent than in into four main types: type A, type B, type C1, and type C2. These types are NPC2 https://ghr.nlm.nih.gov/gene/NPC2 neuronal lipidosis db key
the general population. The incidence within the Ashkenazi population is classified on the basis of genetic cause and the signs and symptoms of the related-gene gene-symbol ghr-page NPD GTR C0220756
approximately 1 in 40,000 individuals.Combined, Niemann-Pick disease types C1 condition. SMPD1 https://ghr.nlm.nih.gov/gene/SMPD1 sphingomyelin lipidosis db key
and C2 are estimated to affect 1 in 150,000 individuals; however, type C1 is by html:p Infants with Niemann-Pick disease type A usually develop an enlarged liver and sphingomyelin/cholesterol lipidosis GTR C0268242
far the more common type, accounting for 95 percent of cases. The disease occurs spleen (hepatosplenomegaly) by age 3 months and fail to gain weight and grow at sphingomyelinase deficiency db key
more frequently in people of French-Acadian descent in Nova Scotia. In Nova the expected rate (failure to thrive). The affected children develop normally GTR C0268243
Scotia, a population of affected French-Acadians were previously designated as until around age 1 year when they experience a progressive loss of mental db key
having Niemann-Pick disease type D, however, it was shown that these individuals abilities and movement (psychomotor regression). Children with Niemann-Pick GTR C0268247
have mutations in the gene associated with Niemann-Pick disease type C1. disease type A also develop widespread lung damage (interstitial lung disease) db key
that can cause recurrent lung infections and eventually lead to respiratory GTR C1843366
failure. All affected children have an eye abnormality called a cherry-red spot, db key
which can be identified with an eye examination. Children with Niemann-Pick GTR C2675646
disease type A generally do not survive past early childhood. db key
html:p Niemann-Pick disease type B usually presents in mid-childhood. The signs and GTR C3179455
symptoms of this type are similar to type A, but not as severe. People with db key
Niemann-Pick disease type B often have hepatosplenomegaly, recurrent lung GeneReviews npab
infections, and a low number of platelets in the blood (thrombocytopenia). They db key
also have short stature and slowed mineralization of bone (delayed bone age). GeneReviews npc
About one-third of affected individuals have the cherry-red spot eye abnormality db key
or neurological impairment. People with Niemann-Pick disease type B usually ICD-10-CM E75.24
survive into adulthood. db key
html:p The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; ICD-10-CM E75.240
these types differ only in their genetic cause. Niemann-Pick disease types C1 db key
and C2 usually become apparent in childhood, although signs and symptoms can ICD-10-CM E75.241
develop at any time. People with these types usually develop difficulty db key
coordinating movements (ataxia), an inability to move the eyes vertically ICD-10-CM E75.242
(vertical supranuclear gaze palsy), poor muscle tone (dystonia), severe liver db key
disease, and interstitial lung disease. Individuals with Niemann-Pick disease ICD-10-CM E75.243
types C1 and C2 have problems with speech and swallowing that worsen over time, db key
eventually interfering with feeding. Affected individuals often experience ICD-10-CM E75.248
progressive decline in intellectual function and about one-third have seizures. db key
People with these types may survive into adulthood. ICD-10-CM E75.249
db key
MeSH D009542
db key
OMIM 257200
db key
OMIM 257220
db key
OMIM 607616
db key
OMIM 607625
db key
Orphanet 646
db key
Orphanet 77292
db key
Orphanet 77293
db key
Orphanet 79289
db key
Orphanet 99022
db key
SNOMED CT 18927009
db key
SNOMED CT 39390005
db key
SNOMED CT 52165006
db key
SNOMED CT 58459009
db key
SNOMED CT 66751000
db key
related-gene-list SNOMED CT 73399005
Nijmegen breakage syndrome https://ghr.nlm.nih.gov/condition/nijmegen-breakage-syndrome The exact prevalence of Nijmegen breakage syndrome is unknown. This html:p Nijmegen breakage syndrome is a condition characterized by short stature, an ar autosomal recessive NBN https://ghr.nlm.nih.gov/gene/NBN ataxia-telangiectasia variant 1 db key 2017-05 2017-12-29
condition is estimated to affect one in 100,000 newborns worldwide, but is unusually small head size (microcephaly), distinctive facial features, recurrent Berlin breakage syndrome GTR C0398791
thought to be most common in the Slavic populations of Eastern Europe. respiratory tract infections, an increased risk of cancer, intellectual microcephaly, normal intelligence and immunodeficiency db key
disability, and other health problems. Seemanova syndrome GeneReviews nijmegen
html:p People with this condition typically grow slowly during infancy and early db key
childhood. After this period of slow growth, affected individuals grow at a MeSH D049932
normal rate but remain shorter than their peers. Microcephaly is apparent from db key
birth in the majority of affected individuals. The head does not grow at the OMIM 251260
same rate as the rest of the body, so it appears that the head is getting db key
smaller as the body grows (progressive microcephaly). Individuals with Nijmegen Orphanet 647
breakage syndrome have distinctive facial features that include a sloping db key
forehead, a prominent nose, large ears, a small jaw, and outside corners of the SNOMED CT 234638009
eyes that point upward (upslanting palpebral fissures). These facial features
typically become apparent by age 3.
html:p People with Nijmegen breakage syndrome have a malfunctioning immune system
(immunodeficiency) with abnormally low levels of immune system proteins called
immunoglobulin G (IgG) and immunoglobulin A (IgA). Affected individuals also
have a shortage of immune system cells called T cells. The immune system
abnormalities increase susceptibility to recurrent infections, such as
bronchitis, pneumonia, sinusitis, and other infections affecting the upper
respiratory tract and lungs.
html:p Individuals with Nijmegen breakage syndrome have an increased risk of developing
cancer, most commonly a cancer of immune system cells called non-Hodgkin
lymphoma. About half of individuals with Nijmegen breakage syndrome develop
non-Hodgkin lymphoma, usually before age 15. Other cancers seen in people with
Nijmegen breakage syndrome include brain tumors such as medulloblastoma and
glioma, and a cancer of muscle tissue called rhabdomyosarcoma. People with
Nijmegen breakage syndrome are 50 times more likely to develop cancer than
people without this condition.
html:p Intellectual development is normal in most people with this condition for the
first year or two of life, but then development becomes delayed. Skills decline
over time, and most affected children and adults have mild to moderate
intellectual disability.
html:p Most affected woman have premature ovarian failure and do not begin menstruation
by age 16 (primary amenorrhea) or have infrequent menstrual periods. Most women
with Nijmegen breakage syndrome are unable to have biological children
(infertile).
Nitroactylglutamate Synthetase (NAGS) Deficiency
乙醯穀胺酸合成酶缺乏症
Non-alcoholic fatty liver disease https://ghr.nlm.nih.gov/condition/non-alcoholic-fatty-liver-disease NAFLD is a very common disorder, occurring in about 25 percent of the html:p Non-alcoholic fatty liver disease (NAFLD) is a buildup of excessive fat in the u pattern unknown APOC3 https://ghr.nlm.nih.gov/gene/APOC3 fatty liver db key 2016-11 2017-12-29
非酒精性脂肪性肝病; global population. Its prevalence is increasing along with the rising prevalence liver that can lead to liver damage resembling the damage caused by alcohol related-gene gene-symbol ghr-page NAFLD GTR C2750440
of obesity in industrialized societies, and it is now the most common chronic abuse, but that occurs in people who do not drink heavily. The liver is a part GCKR https://ghr.nlm.nih.gov/gene/GCKR NASH db key
liver disorder in Western countries, including the United States. NAFLD is more of the digestive system that helps break down food, store energy, and remove related-gene gene-symbol ghr-page non-alcoholic steatohepatitis GTR C3150651
prevalent in individuals of Hispanic, Native American, or Asian ancestry than in waste products, including toxins. The liver normally contains some fat; an MBOAT7 https://ghr.nlm.nih.gov/gene/MBOAT7 nonalcoholic fatty liver disease db key
individuals of European or African ancestry. individual is considered to have a fatty liver (hepatic steatosis) if the liver related-gene gene-symbol ghr-page nonalcoholic steatohepatitis ICD-10-CM K75.81
contains more than 5 to 10 percent fat. PNPLA3 https://ghr.nlm.nih.gov/gene/PNPLA3 steatosis db key
html:p The fat deposits in the liver associated with NAFLD usually cause no symptoms, related-gene gene-symbol ghr-page MeSH D065626
although they may cause increased levels of liver enzymes that are detected in TM6SF2 https://ghr.nlm.nih.gov/gene/TM6SF2 db key
routine blood tests. Some affected individuals have abdominal pain or fatigue. related-gene gene-symbol ghr-page OMIM 613282
During a physical examination, the liver may be found to be slightly enlarged. TRIB1 https://ghr.nlm.nih.gov/gene/TRIB1 db key
html:p Between 7 and 30 percent of people with NAFLD develop inflammation of the liver OMIM 613387
(non-alcoholic steatohepatitis, also known as NASH), leading to liver damage. db key
Minor damage to the liver can be repaired by the body. However, severe or Orphanet 33271
long-term damage can lead to the replacement of normal liver tissue with scar db key
tissue (fibrosis), resulting in irreversible liver disease (cirrhosis) that SNOMED CT 197315008
causes the liver to stop working properly. Signs and symptoms of cirrhosis,
which get worse as fibrosis affects more of the liver, include fatigue,
weakness, loss of appetite, weight loss, nausea, swelling (edema), and yellowing
of the skin and whites of the eyes (jaundice). Scarring in the vein that
carries blood into the liver from the other digestive organs (the portal vein)
can lead to increased pressure in that blood vessel (portal hypertension),
resulting in swollen blood vessels (varices) within the digestive system.
Rupture of these varices can cause life-threatening bleeding.
html:p NAFLD and NASH are thought to account for many cases of cirrhosis that have no
obvious underlying cause (cryptogenic cirrhosis); at least one-third of people
with NASH eventually develop cirrhosis. People with NAFLD, NASH, and cirrhosis
are also at increased risk of developing liver cancer (hepatocellular cancer).
html:p NAFLD is most common in middle-aged or older people, although younger people,
including children, are also affected. It is often considered as part of a group
of conditions known collectively as the metabolic syndrome; in addition to
NAFLD, the metabolic syndrome includes obesity, type 2 diabetes or pre-diabetes
(insulin resistance), high levels of fats (lipids) such as cholesterol and
triglycerides in the blood, and high blood pressure (hypertension). However, a
person with NAFLD may not have all or any of the other conditions that make up
the metabolic syndrome, and individuals with some or all of those conditions may
not have NAFLD.
related-gene-list
Nonbullous congenital ichthyosiform erythroderma https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroder NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the html:p Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that ar autosomal recessive ABCA12 https://ghr.nlm.nih.gov/gene/ABCA12 congenital ichthyosiform erythroderma db key 2017-07 2017-12-29
非皰疹先天性魚鱗狀紅皮病 ma United States. This condition is more common in Norway, where an estimated 1 in mainly affects the skin. Many infants with this condition are born with a tight, related-gene gene-symbol ghr-page congenital nonbullous ichthyosiform erythroderma GTR C1832550
90,000 people are affected. clear sheath covering their skin called a collodion membrane. Constriction by ALOX12B https://ghr.nlm.nih.gov/gene/ALOX12B NBCIE db key
the membrane may cause the lips and eyelids to be turned out so the inner related-gene gene-symbol ghr-page NBIE GTR C1847849
surface is exposed. The collodion membrane is usually shed during the first few ALOXE3 https://ghr.nlm.nih.gov/gene/ALOXE3 NCIE db key
weeks of life. Following shedding of the collodion membrane, the skin is red related-gene gene-symbol ghr-page nonbullous ichthyosiform erythroderma GTR C1855792
(erythroderma) and covered with fine, white scales (ichthyosis). Infants with CASP14 https://ghr.nlm.nih.gov/gene/CASP14 db key
NBCIE may develop infections, an excessive loss of fluids (dehydration), and related-gene gene-symbol ghr-page GTR C1858142
respiratory problems early in life. CERS3 https://ghr.nlm.nih.gov/gene/CERS3 db key
html:p Some people with NBCIE have thickening of the skin on the palms of the hands and related-gene gene-symbol ghr-page GTR C2677065
soles of the feet (palmoplantar keratoderma), decreased or absent sweating CYP4F22 https://ghr.nlm.nih.gov/gene/CYP4F22 db key
(anhidrosis), and abnormal nails (nail dystrophy). In severe cases, there is an related-gene gene-symbol ghr-page GTR C3554349
absence of hair growth (alopecia) in certain areas, often affecting the scalp NIPAL4 https://ghr.nlm.nih.gov/gene/NIPAL4 db key
and eyebrows. related-gene gene-symbol ghr-page GTR C3554355
html:p In individuals with NBCIE, some of the skin problems may improve by adulthood. PNPLA1 https://ghr.nlm.nih.gov/gene/PNPLA1 db key
Life expectancy is normal in people with NBCIE. GTR C4310621
db key
GeneReviews li-ar
db key
MeSH D016113
db key
OMIM 242100
db key
OMIM 601277
db key
OMIM 604777
db key
OMIM 606545
db key
OMIM 612281
db key
OMIM 615023
db key
OMIM 615024
db key
OMIM 617320
db key
Orphanet 281097
db key
synonym-list db-key-list SNOMED CT 267372009
Nonsyndromic aplasia cutis congenita https://ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita Aplasia cutis congenita affects approximately 1 in 10,000 newborns. The html:p Nonsyndromic aplasia cutis congenita is a condition in which babies are born ad autosomal dominant synonym congenital absence of skin on scalp key 2017-12-29
先天性非综合征性皮肤发育不全 incidence of the nonsyndromic form is unknown. with localized areas of missing skin (lesions). These areas resemble ulcers or code memo synonym congenital defect of the skull and scalp db-key C0282160
open wounds, although they are sometimes already healed at birth. Lesions most ar autosomal recessive synonym congenital ulcer of the newborn key
commonly occur on the top of the head (skull vertex), although they can be found code memo synonym scalp defect congenital db-key D004476
on the torso or limbs. In some cases, the bone and other tissues under the skin n not inherited key
defect are also underdeveloped. db-key 107600
html:p Most affected babies have a single lesion. The lesions vary in size and can be key
differently shaped: some are round or oval, others rectangular, and still others db-key 1114
star-shaped. They usually leave a scar after they heal. When the scalp is key
involved, there may be an absence of hair growth (alopecia) in the affected 239152005
area.
html:p When the underlying bone and other tissues are involved, affected individuals
are at higher risk of infections. If these severe defects occur on the head, the
membrane that covers the brain (the dura mater) may be exposed, and
life-threatening bleeding may occur from nearby vessels.
html:p Skin lesions are typically the only feature of nonsyndromic aplasia cutis
congenita, although other skin problems and abnormalities of the bones and other
tissues occur rarely. However, the characteristic skin lesions can occur as one
of many symptoms in other conditions, including Johanson-Blizzard syndrome and
Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis
congenita.
related-gene-list
Nonsyndromic congenital nail disorder 10 https://ghr.nlm.nih.gov/condition/nonsyndromic-congenital-nail-disorder-10 Nonsyndromic congenital nail disorder 10 is likely a rare disorder. At html:p Nonsyndromic congenital nail disorder 10 is a condition that affects the ar autosomal recessive FZD6 https://ghr.nlm.nih.gov/gene/FZD6 claw-shaped nails db key 2017-03 2017-12-29
least 14 affected individuals have been described in the scientific literature. fingernails and toenails. Affected individuals have extremely thick nails nail disorder, nonsyndromic congenital, 10 GTR C3279974
(onychauxis) that separate from the underlying nail bed (onycholysis) and can NDNC10 db key
appear claw-like. Some fingers and toes may be missing part of the nail onychauxis, hyponychia, and onycholysis ICD-10-CM L60.1
(hyponychia). db key
html:p In affected individuals, the nails are often abnormal from birth. However, the ICD-10-CM Q84.5
abnormalities may not be noticeable until later in childhood because the nails db key
tend to grow more slowly than normal. MeSH D054039
html:p Individuals with nonsyndromic congenital nail disorder 10 do not have any other db key
health problems related to the condition. OMIM 614157
db key
Orphanet 280654
db key
SNOMED CT 75789001
db key
related-gene-list SNOMED CT 88103004
Nonsyndromic hearing loss https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss Between 2 and 3 per 1,000 children in the United States are born with html:p Nonsyndromic hearing loss is a partial or total loss of hearing that is not ad autosomal dominant ACTG1 https://ghr.nlm.nih.gov/gene/ACTG1 isolated deafness db key 2016-02 2017-12-29
非症候群聽障 detectable hearing loss in one or both ears. The prevalence of hearing loss associated with other signs and symptoms. In contrast, syndromic hearing loss code memo related-gene gene-symbol ghr-page nonsyndromic deafness GTR C0236038
increases with age; the condition affects 1 in 8 people in the United States age occurs with signs and symptoms affecting other parts of the body. ar autosomal recessive ADCY1 https://ghr.nlm.nih.gov/gene/ADCY1 nonsyndromic hearing impairment db key
12 and older, or about 30 million people. By age 85, more than half of all html:p Nonsyndromic hearing loss can be classified in several different ways. One code memo related-gene gene-symbol ghr-page nonsyndromic hearing loss and deafness GTR CN043648
people experience hearing loss. common way is by the condition's pattern of inheritance: autosomal dominant m mitochondrial BDP1 https://ghr.nlm.nih.gov/gene/BDP1 db key
(DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which code memo related-gene gene-symbol ghr-page GTR CN043651
does not have a special designation). Each of these types of hearing loss x X-linked BSND https://ghr.nlm.nih.gov/gene/BSND db key
includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the related-gene gene-symbol ghr-page GeneReviews deafness-overview
order in which they were first described. For example, DFNA1 was the first type CABP2 https://ghr.nlm.nih.gov/gene/CABP2 db key
of autosomal dominant nonsyndromic hearing loss to be identified. related-gene gene-symbol ghr-page GeneReviews dfna2
html:p The characteristics of nonsyndromic hearing loss vary among the different types. CCDC50 https://ghr.nlm.nih.gov/gene/CCDC50 db key
Hearing loss can affect one ear (unilateral) or both ears (bilateral). Degrees related-gene gene-symbol ghr-page GeneReviews dfna3
of hearing loss range from mild (difficulty understanding soft speech) to CDH23 https://ghr.nlm.nih.gov/gene/CDH23 db key
profound (inability to hear even very loud noises). The term "deafness" is often related-gene gene-symbol ghr-page GeneReviews dfnb1
used to describe severe-to-profound hearing loss. Hearing loss can be stable, CEACAM16 https://ghr.nlm.nih.gov/gene/CEACAM16 db key
or it may be progressive, becoming more severe as a person gets older. related-gene gene-symbol ghr-page GeneReviews dfnb9
Particular types of nonsyndromic hearing loss show distinctive patterns of CIB2 https://ghr.nlm.nih.gov/gene/CIB2 db key
hearing loss. For example, the loss may be more pronounced at high, middle, or related-gene gene-symbol ghr-page GeneReviews dfnx1
low tones. CLDN14 https://ghr.nlm.nih.gov/gene/CLDN14 db key
html:p Most forms of nonsyndromic hearing loss are described as sensorineural, which related-gene gene-symbol ghr-page GeneReviews mt-deafness
means they are associated with a permanent loss of hearing caused by damage to CLIC5 https://ghr.nlm.nih.gov/gene/CLIC5 db key
structures in the inner ear. The inner ear processes sound and sends the related-gene gene-symbol ghr-page GeneReviews tbc1d24-dis
information to the brain in the form of electrical nerve impulses. Less COCH https://ghr.nlm.nih.gov/gene/COCH db key
commonly, nonsyndromic hearing loss is described as conductive, meaning it related-gene gene-symbol ghr-page GeneReviews wfs
results from changes in the middle ear. The middle ear contains three tiny bones COL4A6 https://ghr.nlm.nih.gov/gene/COL4A6 db key
that help transfer sound from the eardrum to the inner ear. Some forms of related-gene gene-symbol ghr-page ICD-10-CM H90
nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in COL11A2 https://ghr.nlm.nih.gov/gene/COL11A2 db key
both the inner ear and the middle ear. This combination is called mixed hearing related-gene gene-symbol ghr-page ICD-10-CM H90.0
loss. CRYM https://ghr.nlm.nih.gov/gene/CRYM db key
html:p Depending on the type, nonsyndromic hearing loss can become apparent at any time related-gene gene-symbol ghr-page ICD-10-CM H90.1
from infancy to old age. Hearing loss that is present before a child learns to DCDC2 https://ghr.nlm.nih.gov/gene/DCDC2 db key
speak is classified as prelingual or congenital. Hearing loss that occurs after related-gene gene-symbol ghr-page ICD-10-CM H90.2
the development of speech is classified as postlingual. DIABLO https://ghr.nlm.nih.gov/gene/DIABLO db key
related-gene gene-symbol ghr-page ICD-10-CM H90.3
DIAPH1 https://ghr.nlm.nih.gov/gene/DIAPH1 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.4
DSPP https://ghr.nlm.nih.gov/gene/DSPP db key
related-gene gene-symbol ghr-page ICD-10-CM H90.5
ELMOD3 https://ghr.nlm.nih.gov/gene/ELMOD3 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.6
EPS8 https://ghr.nlm.nih.gov/gene/EPS8 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.7
ESPN https://ghr.nlm.nih.gov/gene/ESPN db key
related-gene gene-symbol ghr-page ICD-10-CM H90.8
ESRRB https://ghr.nlm.nih.gov/gene/ESRRB db key
related-gene gene-symbol ghr-page ICD-10-CM H90.11
EYA4 https://ghr.nlm.nih.gov/gene/EYA4 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.12
GIPC3 https://ghr.nlm.nih.gov/gene/GIPC3 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.41
GJB2 https://ghr.nlm.nih.gov/gene/GJB2 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.42
GJB3 https://ghr.nlm.nih.gov/gene/GJB3 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.71
GJB6 https://ghr.nlm.nih.gov/gene/GJB6 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.72
GPSM2 https://ghr.nlm.nih.gov/gene/GPSM2 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.8
GRHL2 https://ghr.nlm.nih.gov/gene/GRHL2 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.8X
GRXCR1 https://ghr.nlm.nih.gov/gene/GRXCR1 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.8X1
GRXCR2 https://ghr.nlm.nih.gov/gene/GRXCR2 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.8X2
GSDME https://ghr.nlm.nih.gov/gene/GSDME db key
related-gene gene-symbol ghr-page ICD-10-CM H91.8X3
HGF https://ghr.nlm.nih.gov/gene/HGF db key
related-gene gene-symbol ghr-page ICD-10-CM H91.8X9
HOMER2 https://ghr.nlm.nih.gov/gene/HOMER2 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.9
ILDR1 https://ghr.nlm.nih.gov/gene/ILDR1 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.90
KARS https://ghr.nlm.nih.gov/gene/KARS db key
related-gene gene-symbol ghr-page ICD-10-CM H91.91
KCNQ4 https://ghr.nlm.nih.gov/gene/KCNQ4 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.92
LHFPL5 https://ghr.nlm.nih.gov/gene/LHFPL5 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.93
LOXHD1 https://ghr.nlm.nih.gov/gene/LOXHD1 db key
related-gene gene-symbol ghr-page MeSH D003638
LRTOMT https://ghr.nlm.nih.gov/gene/LRTOMT db key
related-gene gene-symbol ghr-page MeSH D034381
MARVELD2 https://ghr.nlm.nih.gov/gene/MARVELD2 db key
related-gene gene-symbol ghr-page OMIM 220290
MET https://ghr.nlm.nih.gov/gene/MET db key
related-gene gene-symbol ghr-page OMIM 300030
MIR96 https://ghr.nlm.nih.gov/gene/MIR96 db key
related-gene gene-symbol ghr-page OMIM 300066
MSRB3 https://ghr.nlm.nih.gov/gene/MSRB3 db key
related-gene gene-symbol ghr-page OMIM 300614
MT-CO1 https://ghr.nlm.nih.gov/gene/MT-CO1 db key
related-gene gene-symbol ghr-page OMIM 300914
MT-RNR1 https://ghr.nlm.nih.gov/gene/MT-RNR1 db key
related-gene gene-symbol ghr-page OMIM 304400
MT-TS1 https://ghr.nlm.nih.gov/gene/MT-TS1 db key
related-gene gene-symbol ghr-page OMIM 304500
MYH9 https://ghr.nlm.nih.gov/gene/MYH9 db key
related-gene gene-symbol ghr-page OMIM 580000
MYH14 https://ghr.nlm.nih.gov/gene/MYH14 db key
related-gene gene-symbol ghr-page OMIM 600060
MYO3A https://ghr.nlm.nih.gov/gene/MYO3A db key
related-gene gene-symbol ghr-page OMIM 600101
MYO6 https://ghr.nlm.nih.gov/gene/MYO6 db key
related-gene gene-symbol ghr-page OMIM 600316
MYO7A https://ghr.nlm.nih.gov/gene/MYO7A db key
related-gene gene-symbol ghr-page OMIM 600652
MYO15A https://ghr.nlm.nih.gov/gene/MYO15A db key
related-gene gene-symbol ghr-page OMIM 600965
NARS2 https://ghr.nlm.nih.gov/gene/NARS2 db key
related-gene gene-symbol ghr-page OMIM 600974
OSBPL2 https://ghr.nlm.nih.gov/gene/OSBPL2 db key
related-gene gene-symbol ghr-page OMIM 600994
OTOA https://ghr.nlm.nih.gov/gene/OTOA db key
related-gene gene-symbol ghr-page OMIM 601071
OTOF https://ghr.nlm.nih.gov/gene/OTOF db key
related-gene gene-symbol ghr-page OMIM 601316
OTOG https://ghr.nlm.nih.gov/gene/OTOG db key
related-gene gene-symbol ghr-page OMIM 601317
OTOGL https://ghr.nlm.nih.gov/gene/OTOGL db key
related-gene gene-symbol ghr-page OMIM 601369
P2RX2 https://ghr.nlm.nih.gov/gene/P2RX2 db key
related-gene gene-symbol ghr-page OMIM 601386
PCDH15 https://ghr.nlm.nih.gov/gene/PCDH15 db key
related-gene gene-symbol ghr-page OMIM 601412
PJVK https://ghr.nlm.nih.gov/gene/PJVK db key
related-gene gene-symbol ghr-page OMIM 601543
PNPT1 https://ghr.nlm.nih.gov/gene/PNPT1 db key
related-gene gene-symbol ghr-page OMIM 601543
POU3F4 https://ghr.nlm.nih.gov/gene/POU3F4 db key
related-gene gene-symbol ghr-page OMIM 601544
POU4F3 https://ghr.nlm.nih.gov/gene/POU4F3 db key
related-gene gene-symbol ghr-page OMIM 601868
PRPS1 https://ghr.nlm.nih.gov/gene/PRPS1 db key
related-gene gene-symbol ghr-page OMIM 602092
PTPRQ https://ghr.nlm.nih.gov/gene/PTPRQ db key
related-gene gene-symbol ghr-page OMIM 602459
RDX https://ghr.nlm.nih.gov/gene/RDX db key
related-gene gene-symbol ghr-page OMIM 603010
RIPOR2 https://ghr.nlm.nih.gov/gene/RIPOR2 db key
related-gene gene-symbol ghr-page OMIM 603098
SERPINB6 https://ghr.nlm.nih.gov/gene/SERPINB6 db key
related-gene gene-symbol ghr-page OMIM 603629
SLC17A8 https://ghr.nlm.nih.gov/gene/SLC17A8 db key
related-gene gene-symbol ghr-page OMIM 603720
SLC26A4 https://ghr.nlm.nih.gov/gene/SLC26A4 db key
related-gene gene-symbol ghr-page OMIM 604060
SLC26A5 https://ghr.nlm.nih.gov/gene/SLC26A5 db key
related-gene gene-symbol ghr-page OMIM 604717
SMPX https://ghr.nlm.nih.gov/gene/SMPX db key
related-gene gene-symbol ghr-page OMIM 605192
STRC https://ghr.nlm.nih.gov/gene/STRC db key
related-gene gene-symbol ghr-page OMIM 606346
SYNE4 https://ghr.nlm.nih.gov/gene/SYNE4 db key
related-gene gene-symbol ghr-page OMIM 606705
TBC1D24 https://ghr.nlm.nih.gov/gene/TBC1D24 db key
related-gene gene-symbol ghr-page OMIM 607084
TECTA https://ghr.nlm.nih.gov/gene/TECTA db key
related-gene gene-symbol ghr-page OMIM 607197
TJP2 https://ghr.nlm.nih.gov/gene/TJP2 db key
related-gene gene-symbol ghr-page OMIM 607239
TMC1 https://ghr.nlm.nih.gov/gene/TMC1 db key
related-gene gene-symbol ghr-page OMIM 607683
TMEM132E https://ghr.nlm.nih.gov/gene/TMEM132E db key
related-gene gene-symbol ghr-page OMIM 607821
TMIE https://ghr.nlm.nih.gov/gene/TMIE db key
related-gene gene-symbol ghr-page OMIM 607841
TMPRSS3 https://ghr.nlm.nih.gov/gene/TMPRSS3 db key
related-gene gene-symbol ghr-page OMIM 608394
TNC https://ghr.nlm.nih.gov/gene/TNC db key
related-gene gene-symbol ghr-page OMIM 609006
TPRN https://ghr.nlm.nih.gov/gene/TPRN db key
related-gene gene-symbol ghr-page OMIM 609823
TRIOBP https://ghr.nlm.nih.gov/gene/TRIOBP db key
related-gene gene-symbol ghr-page OMIM 610265
TSPEAR https://ghr.nlm.nih.gov/gene/TSPEAR db key
related-gene gene-symbol ghr-page Orphanet 87884
USH1C https://ghr.nlm.nih.gov/gene/USH1C db key
related-gene gene-symbol ghr-page SNOMED CT 343087000
WFS1 https://ghr.nlm.nih.gov/gene/WFS1 db key
related-gene gene-symbol ghr-page SNOMED CT 44057004
WHRN https://ghr.nlm.nih.gov/gene/WHRN db key
related-mitochondrial-dna name ghr-page SNOMED CT 48758008
mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna db key
SNOMED CT 60700002
db key
SNOMED CT 8531006
db key
SNOMED CT 95820000
db key
related-gene-list SNOMED CT 95821001
Nonsyndromic holoprosencephaly https://ghr.nlm.nih.gov/condition/nonsyndromic-holoprosencephaly Nonsyndromic holoprosencephaly accounts for approximately 25 to 50 percent html:p Nonsyndromic holoprosencephaly is an abnormality of brain development that also ad autosomal dominant DISP1 https://ghr.nlm.nih.gov/gene/DISP1 holoprosencephaly sequence db key 2010-09 2017-12-29
of all cases of holoprosencephaly, which affects an estimated 1 in 10,000 affects the head and face. Normally, the brain divides into two halves related-gene gene-symbol ghr-page isolated holoprosencephaly GTR C0079541
newborns. (hemispheres) during early development. Holoprosencephaly occurs when the brain FGF8 https://ghr.nlm.nih.gov/gene/FGF8 isolated HPE db key
fails to divide properly into the right and left hemispheres. This condition is related-gene gene-symbol ghr-page non-syndromic, non-chromosomal holoprosencephaly GTR C1834877
called nonsyndromic to distinguish it from other types of holoprosencephaly FOXH1 https://ghr.nlm.nih.gov/gene/FOXH1 non-syndromic, non-chromosomal HPE db key
caused by genetic syndromes, chromosome abnormalities, or substances that cause related-gene gene-symbol ghr-page nonsyndromic HPE GTR C1835819
birth defects (teratogens). The severity of nonsyndromic holoprosencephaly GLI2 https://ghr.nlm.nih.gov/gene/GLI2 db key
varies widely among affected individuals, even within the same family. related-gene gene-symbol ghr-page GTR C1835820
html:p Nonsyndromic holoprosencephaly can be grouped into four types according to the NODAL https://ghr.nlm.nih.gov/gene/NODAL db key
degree of brain division. From most to least severe, the types are known as related-gene gene-symbol ghr-page GTR C1836254
alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In the PTCH1 https://ghr.nlm.nih.gov/gene/PTCH1 db key
most severe forms of nonsyndromic holoprosencephaly, the brain does not divide related-gene gene-symbol ghr-page GTR C1840528
at all. These affected individuals have one central eye (cyclopia) and a tubular SHH https://ghr.nlm.nih.gov/gene/SHH db key
nasal structure (proboscis) located above the eye. Most babies with severe related-gene gene-symbol ghr-page GTR C1840529
nonsyndromic holoprosencephaly die before birth or soon after. In the less SIX3 https://ghr.nlm.nih.gov/gene/SIX3 db key
severe forms, the brain is partially divided and the eyes are usually set close related-gene gene-symbol ghr-page GTR C1853830
together (hypotelorism). The life expectancy of these affected individuals TDGF1 https://ghr.nlm.nih.gov/gene/TDGF1 db key
varies depending on the severity of symptoms. related-gene gene-symbol ghr-page GTR C1856096
html:p People with nonsyndromic holoprosencephaly often have a small head TGIF1 https://ghr.nlm.nih.gov/gene/TGIF1 db key
(microcephaly), although they can develop a buildup of fluid in the brain related-gene gene-symbol ghr-page GTR C1864827
(hydrocephalus) that causes increased head size (macrocephaly). Other features ZIC2 https://ghr.nlm.nih.gov/gene/ZIC2 db key
may include an opening in the roof of the mouth (cleft palate) with or without a GTR C2675857
split in the upper lip (cleft lip), one central front tooth instead of two (a db key
single maxillary central incisor), and a flat nasal bridge. The eyeballs may be GTR CN120371
abnormally small (microphthalmia小眼畸形) or absent (anophthalmia). db key
html:p Some individuals with nonsyndromic holoprosencephaly have a distinctive pattern GeneReviews hpe-overview
of facial features, including a narrowing of the head at the temples, outside db key
corners of the eyes that point upward (upslanting palpebral fissures), large ICD-10-CM Q04.2
ears, a short nose with upturned nostrils, and a broad and deep space between db key
the nose and mouth (philtrum). In general, the severity of facial features is MeSH D016142
directly related to the severity of the brain abnormalities. However, db key
individuals with mildly affected facial features can have severe brain OMIM 142945
abnormalities. Some people do not have apparent structural brain abnormalities db key
but have some of the facial features associated with this condition. These OMIM 142946
individuals are considered to have a form of the disorder known as microform db key
holoprosencephaly and are typically identified after the birth of a severely OMIM 157170
affected family member. db key
html:p Most people with nonsyndromic holoprosencephaly have developmental delay and OMIM 236100
intellectual disability. Affected individuals also frequently have a db key
malfunctioning pituitary gland, which is a gland located at the base of the OMIM 605934
brain that produces several hormones. Because pituitary dysfunction leads to the db key
partial or complete absence of these hormones, it can cause a variety of OMIM 609408
disorders. Most commonly, people with nonsyndromic holoprosencephaly and db key
pituitary dysfunction develop diabetes insipidus, a condition that disrupts the OMIM 609637
balance between fluid intake and urine excretion. Dysfunction in other parts of db key
the brain can cause seizures, feeding difficulties, and problems regulating body OMIM 610828
temperature, heart rate, and breathing. The sense of smell may be diminished db key
(hyposmia) or completely absent (anosmia) if the part of the brain that OMIM 610829
processes smells is underdeveloped or missing. db key
Orphanet 2162
db key
SNOMED CT 253136007
db key
SNOMED CT 253137003
db key
SNOMED CT 253138008
db key
related-gene-list SNOMED CT 30915001
Nonsyndromic paraganglioma https://ghr.nlm.nih.gov/condition/nonsyndromic-paraganglioma It is estimated that the prevalence of pheochromocytoma is 1 in 500,000 html:p Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures ad autosomal dominant KIF1B https://ghr.nlm.nih.gov/gene/KIF1B chemodectoma db key 2011-10 2017-12-29
非綜合徵性副神經節瘤 people, and the prevalence of other paragangliomas is 1 in 1 million people. called paraganglia. Paraganglia are groups of cells that are found near nerve related-gene gene-symbol ghr-page GTR C0031511
These statistics include syndromic and nonsyndromic paraganglioma and cell bunches called ganglia. Paragangliomas are usually found in the head, neck, RET https://ghr.nlm.nih.gov/gene/RET db key
pheochromocytoma. or torso. However, a type of paraganglioma known as pheochromocytoma develops related-gene gene-symbol ghr-page MeSH D010235
in the adrenal glands. Adrenal glands are located on top of each kidney and SDHA https://ghr.nlm.nih.gov/gene/SDHA db key
produce hormones in response to stress. Most people with paraganglioma develop related-gene gene-symbol ghr-page OMIM 171300
only one tumor in their lifetime. SDHB https://ghr.nlm.nih.gov/gene/SDHB db key
html:p Some people develop a paraganglioma or pheochromocytoma as part of a hereditary related-gene gene-symbol ghr-page Orphanet 717
syndrome that may affect other organs and tissues in the body. However, the SDHD https://ghr.nlm.nih.gov/gene/SDHD db key
tumors often are not associated with any syndromes, in which case the condition related-gene gene-symbol ghr-page Orphanet 94080
is called nonsyndromic paraganglioma or pheochromocytoma. TMEM127 https://ghr.nlm.nih.gov/gene/TMEM127 db key
html:p Pheochromocytomas and some other paragangliomas are associated with ganglia of related-gene gene-symbol ghr-page SNOMED CT 716857003
the sympathetic nervous system. The sympathetic nervous system controls the VHL https://ghr.nlm.nih.gov/gene/VHL
"fight-or-flight" response, a series of changes in the body due to hormones
released in response to stress. Although most sympathetic paragangliomas are
pheochromocytomas, some are found outside the adrenal glands, usually in the
abdomen, and are called extra-adrenal paragangliomas. Most sympathetic
paragangliomas, including pheochromocytomas, produce hormones called
catecholamines, such as epinephrine (adrenaline) or norepinephrine. These excess
catecholamines can cause signs and symptoms such as high blood pressure
(hypertension), episodes of rapid heartbeat (palpitations), headaches, or
sweating.
html:p Most paragangliomas are associated with ganglia of the parasympathetic nervous
system, which controls involuntary body functions such as digestion and saliva
formation. Parasympathetic paragangliomas, typically found in the head and neck,
usually do not produce hormones. However, large tumors may cause signs and
symptoms such as coughing, hearing loss in one ear, or difficulty swallowing.
html:p Although most paragangliomas and pheochromocytomas are noncancerous, some can
become cancerous (malignant) and spread to other parts of the body
(metastasize). Extra-adrenal paragangliomas become malignant more often than
other types of paraganglioma or pheochromocytoma.
related-gene-list
Noonan syndrome https://ghr.nlm.nih.gov/condition/noonan-syndrome Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people. html:p Noonan syndrome is a condition that affects many areas of the body. It is ad autosomal dominant A2ML1 https://ghr.nlm.nih.gov/gene/A2ML1 familial Turner syndrome db key 2016-05 2017-12-29
努南氏症候群 characterized by mildly unusual facial features, short stature, heart defects, related-gene gene-symbol ghr-page female pseudo-Turner syndrome GTR C0028326
bleeding problems, skeletal malformations, and many other signs and symptoms. BRAF https://ghr.nlm.nih.gov/gene/BRAF male Turner syndrome db key
html:p People with Noonan syndrome have distinctive facial features such as a deep related-gene gene-symbol ghr-page Noonan-Ehmke syndrome GTR C0041409
groove in the area between the nose and mouth (philtrum), widely spaced eyes KRAS https://ghr.nlm.nih.gov/gene/KRAS Noonan's syndrome db key
that are usually pale blue or blue-green in color, and low-set ears that are related-gene gene-symbol ghr-page NS GTR C1853120
rotated backward. Affected individuals may have a high arch in the roof of the LZTR1 https://ghr.nlm.nih.gov/gene/LZTR1 pseudo-Ullrich-Turner syndrome db key
mouth (high-arched palate), poor teeth alignment, and a small lower jaw related-gene gene-symbol ghr-page Turner-like syndrome GTR C1854469
(micrognathia). Many children with Noonan syndrome have a short neck, and both MAP2K1 https://ghr.nlm.nih.gov/gene/MAP2K1 Turner phenotype with normal karyotype db key
children and adults may have excess neck skin (also called webbing) and a low related-gene gene-symbol ghr-page Turner syndrome in female with X chromosome GTR C1860991
hairline at the back of the neck. NRAS https://ghr.nlm.nih.gov/gene/NRAS Ullrich-Noonan syndrome db key
html:p Between 50 and 70 percent of individuals with Noonan syndrome have short related-gene gene-symbol ghr-page GTR C1969057
stature. At birth, they are usually a normal length and weight, but growth slows PTPN11 https://ghr.nlm.nih.gov/gene/PTPN11 db key
over time. Abnormal levels of growth hormone, a protein that is necessary for related-gene gene-symbol ghr-page GTR C2750732
the normal growth of the body's bones and tissues, may contribute to the slow RAF1 https://ghr.nlm.nih.gov/gene/RAF1 db key
growth. related-gene gene-symbol ghr-page GTR C3150970
html:p Individuals with Noonan syndrome often have either a sunken chest (pectus RASA2 https://ghr.nlm.nih.gov/gene/RASA2 db key
excavatum) or a protruding chest (pectus carinatum). Some affected people may related-gene gene-symbol ghr-page GTR C3809233
also have an abnormal side-to-side curvature of the spine (scoliosis). RIT1 https://ghr.nlm.nih.gov/gene/RIT1 db key
html:p Most people with Noonan syndrome have some form of critical congenital heart related-gene gene-symbol ghr-page GTR C4225280
disease. The most common heart defect in these individuals is a narrowing of the RRAS https://ghr.nlm.nih.gov/gene/RRAS db key
valve that controls blood flow from the heart to the lungs (pulmonary valve related-gene gene-symbol ghr-page GTR C4225282
stenosis). Some have hypertrophic cardiomyopathy, which enlarges and weakens the SOS1 https://ghr.nlm.nih.gov/gene/SOS1 db key
heart muscle. related-gene gene-symbol ghr-page GeneReviews noonan
html:p A variety of bleeding disorders have been associated with Noonan syndrome. Some SOS2 https://ghr.nlm.nih.gov/gene/SOS2 db key
affected individuals have excessive bruising, nosebleeds, or prolonged bleeding ICD-10-CM Q87.1
following injury or surgery. Rarely, women with Noonan syndrome who have a db key
bleeding disorder have excessive bleeding during menstruation (menorrhagia) or MeSH D009634
childbirth. db key
html:p Adolescent males with Noonan syndrome typically experience delayed puberty. They OMIM 163950
go through puberty starting at age 13 or 14 and have a reduced pubertal growth db key
spurt that results in shortened stature. Most males with Noonan syndrome have OMIM 605275
undescended testes (cryptorchidism), which may contribute to infertility db key
(inability to father a child) later in life. Females with Noonan syndrome can OMIM 609942
experience delayed puberty but most have normal puberty and fertility. db key
html:p Noonan syndrome can cause a variety of other signs and symptoms. Most children OMIM 610733
diagnosed with Noonan syndrome have normal intelligence, but a few have special db key
educational needs, and some have intellectual disability. Some affected OMIM 611553
individuals have vision or hearing problems. Affected infants may have feeding db key
problems, which typically get better by age 1 or 2 years. Infants with Noonan OMIM 613224
syndrome may be born with puffy hands and feet caused by a buildup of fluid db key
(lymphedema), which can go away on its own. Older individuals can also develop OMIM 613706
lymphedema, usually in the ankles and lower legs. db key
html:p Some people with Noonan syndrome develop cancer, particularly those involving OMIM 615355
the blood-forming cells (leukemia). It has been estimated that children with db key
Noonan syndrome have an eightfold increased risk of developing leukemia or other OMIM 616559
cancers over age-matched peers. db key
html:p Noonan syndrome is one of a group of related conditions, collectively known as OMIM 616564
RASopathies. These conditions all have similar signs and symptoms and are caused db key
by changes in the same cell signaling pathway. In addition to Noonan syndrome, Orphanet 648
the RASopathies include cardiofaciocutaneous syndrome, Costello syndrome, db key
neurofibromatosis type 1, Legius syndrome, and Noonan syndrome with multiple SNOMED CT 205824006
lentigines.
related-gene-list
Noonan syndrome with multiple lentigines https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines Noonan syndrome with multiple lentigines is thought to be a rare condition; html:p Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a ad autosomal dominant BRAF https://ghr.nlm.nih.gov/gene/BRAF cardio-cutaneous syndrome db key 2016-06 2017-12-29
LEOPARD Syndrome approximately 200 cases have been reported worldwide. condition that affects many areas of the body. As the condition name suggests, related-gene gene-symbol ghr-page cardiomyopathic lentiginosis GTR C0175704
LEOPARD 症候群 Noonan syndrome with multiple lentigines is very similar to a condition called MAP2K1 https://ghr.nlm.nih.gov/gene/MAP2K1 diffuse lentiginosis db key
Noonan syndrome, and it can be difficult to tell the two disorders apart in related-gene gene-symbol ghr-page lentiginosis profusa GTR C1969056
early childhood. However, the features of these two conditions differ later in PTPN11 https://ghr.nlm.nih.gov/gene/PTPN11 LEOPARD syndrome db key
life. The characteristic features of Noonan syndrome with multiple lentigines related-gene gene-symbol ghr-page Moynahan syndrome GTR C3150971
include brown skin spots called lentigines that are similar to freckles, heart RAF1 https://ghr.nlm.nih.gov/gene/RAF1 multiple lentigines syndrome db key
defects, widely spaced eyes (ocular hypertelorism), a sunken chest (pectus NSML GTR CN074218
excavatum) or protruding chest (pectus carinatum), and short stature. These progressive cardiomyopathic lentiginosis db key
features vary, however, even among affected individuals in the same family. Not GeneReviews leopard
all individuals with Noonan syndrome with multiple lentigines have all the db key
characteristic features of this condition. MeSH D044542
html:p The lentigines seen in Noonan syndrome with multiple lentigines typically first db key
appear in mid-childhood, mostly on the face, neck, and upper body. Affected OMIM 151100
individuals may have thousands of small dark brown skin spots by the time they db key
reach puberty. Unlike freckles, the appearance of lentigines has nothing to do OMIM 611554
with sun exposure. In addition to lentigines, people with this condition may db key
have lighter brown skin spots called café-au-lait spots. Café-au-lait spots tend OMIM 613707
to develop before the lentigines, appearing within the first year of life in db key
most affected people. Orphanet 500
html:p Of the people with Noonan syndrome with multiple lentigines who have heart db key
defects, about 80 percent have hypertrophic cardiomyopathy, which is a SNOMED CT 111306001
thickening of the heart muscle that forces the heart to work harder to pump db key
blood. The hypertrophic cardiomyopathy most often affects the lower left chamber SNOMED CT 45167004
of the heart (the left ventricle). Up to 20 percent of people with Noonan
syndrome with multiple lentigines who have heart problems have a narrowing of
the artery from the heart to the lungs (pulmonary stenosis).
html:p People with Noonan syndrome with multiple lentigines can have a distinctive
facial appearance. In addition to ocular hypertelorism, affected individuals may
have droopy eyelids (ptosis), thick lips, and low-set ears. Affected
individuals also usually have an abnormal appearance of the chest; they either
have pectus excavatum or pectus carinatum.
html:p At birth, people with Noonan syndrome with multiple lentigines are typically of
normal weight and height, but in some, growth slows over time. This slow growth
results in affected individuals being shorter than average, although less than
half of people with Noonan syndrome with multiple lentigines have significantly
short stature.
html:p Other signs and symptoms of Noonan syndrome with multiple lentigines include
hearing loss caused by abnormalities in the inner ear (sensorineural deafness),
mild intellectual disability, and extra folds of skin on the back of the neck.
Affected males often have genital abnormalities, which can include undescended
testes (cryptorchidism) and a urethra that opens on the underside of the penis
(hypospadias). These abnormalities may reduce the ability to have biological
children (decreased fertility). Females with Noonan syndrome with multiple
lentigines may have poorly developed ovaries and delayed puberty.
html:p Noonan syndrome with multiple lentigines is one of a group of related conditions
collectively known as RASopathies. These conditions all have similar signs and
symptoms and are caused by changes in the same cell signaling pathway. In
addition to Noonan syndrome with multiple lentigines, the RASopathies include
Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome,
neurofibromatosis type 1, and Legius syndrome.
related-gene-list
Norrie disease https://ghr.nlm.nih.gov/condition/norrie-disease Norrie disease is a rare disorder; its exact incidence is unknown. It is html:p Norrie disease is an inherited eye disorder that leads to blindness in male xr X-linked recessive NDP https://ghr.nlm.nih.gov/gene/NDP Anderson-Warburg syndrome db key 2007-03 2017-12-29
諾里氏病 not associated with any specific racial or ethnic group. infants at birth or soon after birth. It causes abnormal development of the Atrophia bulborum hereditaria GTR C0266526
(Eyes) retina, the layer of sensory cells that detect light and color, with masses of congenital progressive oculo-acoustico-cerebral degeneration db key
immature retinal cells accumulating at the back of the eye. As a result, the Episkopi blindness GeneReviews norrie
pupils appear white when light is shone on them, a sign called leukocoria. The Fetal iritis syndrome db key
irises (colored portions of the eyes) or the entire eyeballs may shrink and Norrie syndrome MeSH D015785
deteriorate during the first months of life, and cataracts (cloudiness in the Norrie-Warburg syndrome db key
lens of the eye) may eventually develop. Norrie's disease OMIM 310600
html:p About one third of individuals with Norrie disease develop progressive hearing Oligophrenia microphthalmus db key
loss, and more than half experience developmental delays in motor skills such as pseudoglioma congenita Orphanet 649
sitting up and walking. Other problems may include mild to moderate Whitnall-Norman syndrome db key
intellectual disability, often with psychosis, and abnormalities that can affect SNOMED CT 15228007
circulation, breathing, digestion, excretion, or reproduction.
related-gene-list
North American Indian childhood cirrhosis https://ghr.nlm.nih.gov/condition/north-american-indian-childhood-cirrhosis North American Indian childhood cirrhosis has been found only in children html:p North American Indian childhood cirrhosis is a rare liver disorder that occurs ar autosomal recessive UTP4 https://ghr.nlm.nih.gov/gene/UTP4 NAIC db key 2011-03 2017-12-29
of Ojibway-Cree descent in the Abitibi region of northwestern Quebec, Canada. At in children. The liver malfunction causes yellowing of the skin and whites of GTR C1858051
least 30 affected individuals from this population have been reported. the eyes (jaundice) in affected infants. The disorder worsens with age, db key
progressively damaging the liver and leading to chronic, irreversible liver MeSH D008103
disease (cirrhosis) in childhood or adolescence. Unless it is treated with liver db key
transplantation, North American Indian childhood cirrhosis typically causes OMIM 604901
life-threatening complications including liver failure. db key
Orphanet 168583
db key
related-gene-list SNOMED CT 699189004
Ochoa syndrome https://ghr.nlm.nih.gov/condition/ochoa-syndrome Ochoa syndrome is a rare disorder. About 150 cases have been reported in html:p Ochoa syndrome is a disorder characterized by urinary problems and unusual ar autosomal recessive HPSE2 https://ghr.nlm.nih.gov/gene/HPSE2 hydronephrosis-inverted smile db key 2012-03 2017-12-29
奧喬亞綜合症 the medical literature. facial expressions. hydronephrosis with peculiar facial expression GTR C0403555
html:p The urinary problems associated with Ochoa syndrome typically become apparent in inverted smile and occult neuropathic bladder db key
early childhood or adolescence. People with this disorder may have difficulty inverted smile-neurogenic bladder GeneReviews urofacial
controlling the flow of urine (incontinence), which can lead to bedwetting. partial facial palsy with urinary abnormalities db key
Individuals with Ochoa syndrome may be unable to completely empty the bladder, UFS MeSH D000015
often resulting in vesicoureteral reflux, a condition in which urine backs up urofacial Ochoa's syndrome db key
into the ducts that normally carry it from each kidney to the bladder (the urofacial syndrome OMIM 236730
ureters). Urine may also accumulate in the kidneys (hydronephrosis). db key
Vesicoureteral reflux and hydronephrosis can lead to frequent infections of the Orphanet 2704
urinary tract and kidney inflammation (pyelonephritis), causing damage that may db key
eventually result in kidney failure. SNOMED CT 236533008
html:p Individuals with Ochoa syndrome also exhibit a characteristic frown-like facial
grimace when they try to smile or laugh, often described as inversion of facial
expression. While this feature may appear earlier than the urinary tract
symptoms, perhaps as early as an infant begins to smile, it is often not brought
to medical attention.
html:p Approximately two-thirds of individuals with Ochoa syndrome also experience
problems with bowel function, such as constipation, loss of bowel control, or
muscle spasms of the anus.
related-gene-list
Ocular albinism https://ghr.nlm.nih.gov/condition/ocular-albinism The most common form of this disorder, ocular albinism type 1, affects at html:p Ocular albinism is a genetic condition that primarily affects the eyes. This ad autosomal dominant GPR143 https://ghr.nlm.nih.gov/gene/GPR143 albinism, ocular db key 2017-11 2017-12-29
眼白化 least 1 in 60,000 males. The classic signs and symptoms of this condition are condition reduces the coloring (pigmentation) of the iris, which is the colored code memo OA GTR C0268505
(Visual) much less common in females. part of the eye, and the retina, which is the light-sensitive tissue at the back ar autosomal recessive XLOA db key
of the eye. Pigmentation in the eye is essential for normal vision. code memo GTR C0342684
html:p Ocular albinism is characterized by severely impaired sharpness of vision xd X-linked dominant db key
(visual acuity) and problems with combining vision from both eyes to perceive GTR C1845069
depth (stereoscopic vision). Although the vision loss is permanent, it does not db key
worsen over time. Other eye abnormalities associated with this condition include GTR C1863198
rapid, involuntary eye movements (nystagmus); eyes that do not look in the same db key
direction (strabismus); and increased sensitivity to light (photophobia). Many GeneReviews x-oa
affected individuals also have abnormalities involving the optic nerves, which db key
carry visual information from the eye to the brain. ICD-10-CM E70.31
html:p Unlike some other forms of albinism, ocular albinism does not significantly db key
affect the color of the skin and hair. People with this condition may have a ICD-10-CM E70.310
somewhat lighter complexion than other members of their family, but these db key
differences are usually minor. ICD-10-CM E70.311
html:p The most common form of ocular albinism is known as the Nettleship-Falls type or db key
type 1. Other forms of ocular albinism are much rarer and may be associated ICD-10-CM E70.318
with additional signs and symptoms, such as hearing loss. db key
ICD-10-CM E70.319
db key
MeSH D016117
db key
OMIM 103470
db key
OMIM 300500
db key
OMIM 300650
db key
Orphanet 54
db key
Orphanet 284804
db key
SNOMED CT 26399002
db key
related-gene-list SNOMED CT 78642008
Oculocutaneous albinism https://ghr.nlm.nih.gov/condition/oculocutaneous-albinism Overall, an estimated 1 in 20,000 people worldwide are born with html:p Oculocutaneous albinism is a group of conditions that affect coloring ar autosomal recessive LRMDA https://ghr.nlm.nih.gov/gene/LRMDA albinism, oculocutaneous db key 2015-10 2017-12-29
眼皮膚白化症 oculocutaneous albinism. The condition affects people in many ethnic groups and (pigmentation) of the skin, hair, and eyes. Affected individuals typically have related-gene gene-symbol ghr-page OCA GTR C0078918
geographical regions. Types 1 and 2 are the most common forms of this very fair skin and white or light-colored hair. Long-term sun exposure greatly MC1R https://ghr.nlm.nih.gov/gene/MC1R db key
condition; types 3 and 4 are less common. Type 2 occurs more frequently in increases the risk of skin damage and skin cancers, including an aggressive related-gene gene-symbol ghr-page GTR C0268494
African Americans, some Native American groups, and people from sub-Saharan form of skin cancer called melanoma, in people with this condition. OCA2 https://ghr.nlm.nih.gov/gene/OCA2 db key
Africa. Type 3, specifically rufous oculocutaneous albinism, has been described Oculocutaneous albinism also reduces pigmentation of the colored part of the eye related-gene gene-symbol ghr-page GTR C0268495
primarily in people from southern Africa. Studies suggest that type 4 occurs (the iris) and the light-sensitive tissue at the back of the eye (the retina). SLC24A5 https://ghr.nlm.nih.gov/gene/SLC24A5 db key
more frequently in the Japanese and Korean populations than in people from other People with this condition usually have vision problems such as reduced related-gene gene-symbol ghr-page GTR C1847024
parts of the world. sharpness; rapid, involuntary eye movements (nystagmus); and increased SLC45A2 https://ghr.nlm.nih.gov/gene/SLC45A2 db key
sensitivity to light (photophobia). related-gene gene-symbol ghr-page GTR C1847836
html:p Researchers have identified multiple types of oculocutaneous albinism, which are TYR https://ghr.nlm.nih.gov/gene/TYR db key
distinguished by their specific skin, hair, and eye color changes and by their related-gene gene-symbol ghr-page GTR C1859932
genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, TYRP1 https://ghr.nlm.nih.gov/gene/TYRP1 db key
very pale skin, and light-colored irises. Type 2 is typically less severe than GTR C3808786
type 1; the skin is usually a creamy white color and hair may be light yellow, db key
blond, or light brown. Type 3 includes a form of albinism called rufous GTR C3888401
oculocutaneous albinism, which usually affects dark-skinned people. Affected db key
individuals have reddish-brown skin, ginger or red hair, and hazel or brown GTR CN119529
irises. Type 3 is often associated with milder vision abnormalities than the db key
other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to GeneReviews oca1
those seen with type 2. db key
html:p Several additional types of this disorder have been proposed, each affecting one GeneReviews oca2
or a few families. db key
GeneReviews oca4
db key
ICD-10-CM E70.32
db key
ICD-10-CM E70.320
db key
ICD-10-CM E70.321
db key
ICD-10-CM E70.328
db key
ICD-10-CM E70.329
db key
MeSH D016115
db key
OMIM 113750
db key
OMIM 203100
db key
OMIM 203200
db key
OMIM 203290
db key
OMIM 606574
db key
OMIM 606952
db key
OMIM 615179
db key
OMIM 615312
db key
Orphanet 55
db key
SNOMED CT 11160000
db key
SNOMED CT 26336006
db key
SNOMED CT 63450009
db key
SNOMED CT 63844009
db key
related-gene-list SNOMED CT 6483008
Oculodentodigital dysplasia https://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia The exact incidence of oculodentodigital dysplasia is unknown. It has been html:p Oculodentodigital dysplasia is a condition that affects many parts of the body, ad autosomal dominant GJA1 https://ghr.nlm.nih.gov/gene/GJA1 oculo-dento-digital dysplasia db key 2009-02 2017-12-29
眼牙指發育不良 diagnosed in fewer than 1,000 people worldwide. More cases are likely particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common code memo oculo-dento-osseous dysplasia GTR C0812437
undiagnosed. features in people with this condition are small eyes (microphthalmia) and other ar autosomal recessive oculodentodigital syndrome db key
eye abnormalities that can lead to vision loss. Affected individuals also oculodentoosseous dysplasia MeSH D004476
frequently have tooth abnormalities, such as small or missing teeth, weak ODD syndrome db key
enamel, multiple cavities, and early tooth loss. Other common features of this ODDD OMIM 164200
condition include a thin nose and webbing of the skin (syndactyly) between the ODOD db key
fourth and fifth fingers. osseous-oculo-dental dysplasia Orphanet 2710
html:p Less common features of oculodentodigital dysplasia include sparse hair growth db key
(hypotrichosis), brittle nails, an unusual curvature of the fingers SNOMED CT 254138001
(camptodactyly), syndactyly of the toes, small head size (microcephaly), and an db key
opening in the roof of the mouth (cleft palate). Some affected individuals SNOMED CT 254139009
experience neurological problems such as a lack of bladder or bowel control, db key
difficulty coordinating movements (ataxia), abnormal muscle stiffness SNOMED CT 38215007
(spasticity), hearing loss, and impaired speech (dysarthria). A few people with
oculodentodigital dysplasia also have a skin condition called palmoplantar
keratoderma. Palmoplantar keratoderma causes the skin on the palms and the
soles of the feet to become thick, scaly, and calloused.
html:p Some features of oculodentodigital dysplasia are evident at birth, while others
become apparent with age.
related-gene-list
Oculofaciocardiodental syndrome https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome OFCD syndrome is very rare; the incidence is estimated to be less than 1 in html:p Oculofaciocardiodental (OFCD) syndrome is a condition that affects the xd X-linked dominant BCOR https://ghr.nlm.nih.gov/gene/BCOR MCOPS2 db key 2008-05 2017-12-29
眼面心牙綜合症 1 million people. development of the eyes (oculo-), facial features (facio-), heart (cardio-) and Microphthalmia, cataracts, radiculomegaly, and septal heart defects GTR C1846265
teeth (dental). This condition occurs only in females. Microphthalmia, syndromic 2 db key
html:p The eye abnormalities associated with OFCD syndrome can affect one or both eyes. Oculo-facio-cardio-dental syndrome MeSH D008850
Many people with this condition are born with eyeballs that are abnormally OFCD syndrome db key
small (microphthalmia). Other eye problems can include clouding of the lens MeSH D015785
(cataract) and a higher risk of glaucoma, an eye disease that increases the db key
pressure in the eye. These abnormalities can lead to vision loss or blindness. OMIM 300166
html:p People with OFCD syndrome often have a long, narrow face with distinctive facial db key
features, including deep-set eyes and a broad nasal tip that is divided by a Orphanet 2712
cleft. Some affected people have an opening in the roof of the mouth called a db key
cleft palate. SNOMED CT 699300009
html:p Heart defects are another common feature of OFCD syndrome. Babies with this
condition may be born with a hole between two chambers of the heart (an atrial
or ventricular septal defect) or a leak in one of the valves that controls blood
flow through the heart (mitral valve prolapse).
html:p Teeth with very large roots (radiculomegaly) are characteristic of OFCD
syndrome. Additional dental abnormalities can include delayed loss of primary
(baby) teeth, missing or abnormally small teeth, misaligned teeth, and defective
tooth enamel.
related-gene-list
Oculopharyngeal muscular dystrophy, OPMD https://ghr.nlm.nih.gov/condition/oculopharyngeal-muscular-dystrophy In Europe, the prevalence of oculopharyngeal muscular dystrophy is html:p Oculopharyngeal muscular dystrophy is a genetic condition characterized by ad autosomal dominant PABPN1 https://ghr.nlm.nih.gov/gene/PABPN1 Muscular Dystrophy, Oculopharyngeal db key 2008-12 2017-12-29
眼咽型肌營養不良症 estimated to be 1 in 100,000 people. The autosomal dominant form of this muscle weakness that begins in adulthood, typically after age 40. The first code memo Oculopharyngeal dystrophy GTR C0270952
condition is much more common in the French-Canadian population of the Canadian symptom in people with this disorder is usually droopy eyelids (ptosis), ar autosomal recessive OPMD db key
province of Quebec, where it is estimated to affect 1 in 1,000 individuals. followed by difficulty swallowing (dysphagia). The swallowing difficulties Progressive muscular dystrophy, oculopharyngeal type GeneReviews opmd
Autosomal dominant oculopharyngeal muscular dystrophy is also seen more begin with food, but as the condition progresses, liquids can be difficult to db key
frequently in the Bukharan (Central Asian) Jewish population of Israel, swallow as well. Many people with this condition have weakness and wasting ICD-10-CM G71.0
affecting 1 in 600 people.The autosomal recessive form of this condition is very (atrophy) of the tongue. These problems with food intake may cause db key
rare; only a few cases of autosomal recessive oculopharyngeal muscular malnutrition. Some affected individuals also have weakness in other facial MeSH D039141
dystrophy have been identified. muscles. db key
html:p Individuals with oculopharyngeal muscular dystrophy frequently have weakness in OMIM 164300
the muscles near the center of the body (proximal muscles), particularly muscles db key
in the upper legs and hips. The weakness progresses slowly over time, and Orphanet 270
people may need the aid of a cane or a walker. Rarely, affected individuals db key
need wheelchair assistance. SNOMED CT 77097004
html:p There are two types of oculopharyngeal muscular dystrophy, which are
distinguished by their pattern of inheritance. They are known as the autosomal
dominant and autosomal recessive types.
Occult macular dystrophy, OMD
隱匿性黃斑部失養症
related-gene-list
Ohdo syndrome, Maat-Kievit-Brunner type https://ghr.nlm.nih.gov/condition/ohdo-syndrome-maat-kievit-brunner-type The Maat-Kievit-Brunner type of Ohdo syndrome is a very rare condition, html:p The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized xr X-linked recessive MED12 https://ghr.nlm.nih.gov/gene/MED12 blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type db key 2013-04 2017-12-29
玛特-给威特-布伦勒型奥杜综合征 with only a few affected individuals reported in the medical literature. by intellectual disability and distinctive facial features. It has only been BMRS, MKB type GTR C3698541
reported in males. Ohdo syndrome, MKB type db key
html:p The intellectual disability associated with this condition varies from mild to X-linked Ohdo syndrome MeSH D000015
severe, and the development of motor skills (such as sitting, standing, and db key
walking) is delayed. Some affected individuals also have behavioral problems. OMIM 300895
html:p Distinctive facial features often seen in this condition include a narrowing of db key
the eye opening (blepharophimosis), droopy eyelids (ptosis), prominent cheeks, a Orphanet 293707
broad nasal bridge, a nose with a rounded tip, a large space between the nose db key
and upper lip (a long philtrum), and a narrow mouth. Some affected individuals SNOMED CT 699297004
also have widely set eyes (hypertelorism), an unusually small chin
(micrognathia), and small and low-set ears. As people with the condition get
older, these facial characteristics become more pronounced and the face becomes
more triangular.
html:p Other possible signs of this condition include dental problems, weak muscle tone
(hypotonia), and hearing loss.
related-gene-list
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant https://ghr.nlm.nih.gov/condition/ohdo-syndrome-say-barber-biesecker-young-simps The SBBYS variant of Ohdo syndrome is estimated to occur in fewer than 1 html:p The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a ad autosomal dominant KAT6B https://ghr.nlm.nih.gov/gene/KAT6B blepharophimosis and mental retardation syndrome, db key 2013-02 2017-12-29
on-variant per million people. At least 19 cases have been reported in the medical rare condition characterized by genital abnormalities in males, missing or Say-Barber/Biesecker/Young-Simpson type GTR C1863557
literature. underdeveloped kneecaps (patellae), intellectual disability, distinctive facial blepharophimosis-intellectual deficit syndrome, db key
features, and abnormalities affecting other parts of the body. Say-Barber/Biesecker/Young-Simpson type GeneReviews kat6b-dis
html:p Males with the SBBYS variant of Ohdo syndrome typically have undescended testes BMRS SBBYS db key
(cryptorchidism). Females with this condition have normal genitalia. Ohdo syndrome, Say-Barber-Biesecker variant MeSH D000015
html:p Missing or underdeveloped patellae is the most common skeletal abnormality Ohdo syndrome, SBBYS variant db key
associated with the SBBYS variant of Ohdo syndrome. Affected individuals also Say-Barber-Biesecker-Young-Simpson syndrome OMIM 603736
have joint stiffness involving the hips, knees, and ankles that can impair Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome db key
movement. Although joints in the lower body are stiff, joints in the arms and SBBYS variant of Ohdo syndrome Orphanet 2728
upper body may be unusually loose (lax). Many people with this condition have SBBYSS db key
long thumbs and first (big) toes. Young-Simpson syndrome SNOMED CT 699298009
html:p The SBBYS variant of Ohdo syndrome is also associated with delayed development
and intellectual disability, which are often severe. Many affected infants have
weak muscle tone (hypotonia) that leads to breathing and feeding difficulties.
html:p The SBBYS variant of Ohdo syndrome is characterized by a mask-like,
non-expressive face. Additionally, affected individuals may have distinctive
facial features such as prominent cheeks, a broad nasal bridge or a nose with a
rounded tip, a narrowing of the eye opening (blepharophimosis), droopy eyelids
(ptosis), and abnormalities of the tear (lacrimal) glands. About one-third of
affected individuals are born with an opening in the roof of the mouth called a
cleft palate. The SBBYS variant of Ohdo syndrome can also be associated with
heart defects and dental problems.
related-gene-list
Ollier disease https://ghr.nlm.nih.gov/condition/ollier-disease Ollier disease is estimated to occur in 1 in 100,000 people. html:p Ollier disease is a disorder characterized by multiple enchondromas, which are n not inherited IDH1 https://ghr.nlm.nih.gov/gene/IDH1 dyschondroplasia db key 2016-02 2017-12-29
奥利埃氏病(软骨发育异常) noncancerous (benign) growths of cartilage that develop within the bones. These related-gene gene-symbol ghr-page enchondromatosis GTR C0014084
growths most commonly occur in the limb bones, especially in the bones of the IDH2 https://ghr.nlm.nih.gov/gene/IDH2 enchondromatosis, multiple, Ollier type db key
hands and feet; however, they may also occur in the skull, ribs, and bones of multiple cartilaginous enchondroses ICD-10-CM Q78.4
the spine (vertebrae). Enchondromas may result in severe bone deformities, multiple enchondromatosis db key
shortening of the limbs, and fractures. Ollier's syndrome MeSH D004687
html:p The signs and symptoms of Ollier disease may be detectable at birth, although db key
they generally do not become apparent until around the age of 5. Enchondromas OMIM 166000
develop near the ends of bones, where normal growth occurs, and they frequently db key
stop forming after affected individuals stop growing in early adulthood. As a Orphanet 296
result of the bone deformities associated with Ollier disease, people with this db key
disorder generally have short stature and underdeveloped muscles. SNOMED CT 268274005
html:p Although the enchondromas associated with Ollier disease start out as benign,
they may become cancerous (malignant). In particular, affected individuals may
develop bone cancers called chondrosarcomas, especially in the skull. People
with Ollier disease also have an increased risk of other cancers, such as
ovarian or liver cancer.
html:p People with Ollier disease usually have a normal lifespan, and intelligence is
unaffected. The extent of their physical impairment depends on their individual
skeletal deformities, but in most cases they have no major limitations in their
activities.
html:p A related disorder called Maffucci syndrome also involves multiple enchondromas
but is distinguished by the presence of red or purplish growths in the skin
consisting of tangles of abnormal blood vessels (hemangiomas).
related-gene-list
Omenn syndrome https://ghr.nlm.nih.gov/condition/omenn-syndrome Overall, the various forms of SCID are estimated to affect 1 in 75,000 to html:p Omenn syndrome is an inherited disorder of the immune system (immunodeficiency). ar autosomal recessive CARD11 https://ghr.nlm.nih.gov/gene/CARD11 familial reticuloendotheliosis db key 2017-02 2017-12-29
Omenn 综合症 100,000 newborns. The exact prevalence of Omenn syndrome is unknown. Omenn syndrome is one of several forms of severe combined immunodeficiency related-gene gene-symbol ghr-page histiocytic medullary reticulosis GTR C1801959
(SCID), a group of disorders that cause individuals to have virtually no immune DCLRE1C https://ghr.nlm.nih.gov/gene/DCLRE1C Omenn's syndrome db key
protection from bacteria, viruses, and fungi. Individuals with SCID are prone to related-gene gene-symbol ghr-page ICD-10-CM D81.2
repeated and persistent infections that can be very serious or IL7R https://ghr.nlm.nih.gov/gene/IL7R db key
life-threatening. Infants with Omenn syndrome typically experience pneumonia and related-gene gene-symbol ghr-page MeSH D016511
chronic diarrhea. Often the organisms that cause infection in people with this LIG4 https://ghr.nlm.nih.gov/gene/LIG4 db key
disorder are described as opportunistic because they ordinarily do not cause related-gene gene-symbol ghr-page OMIM 603554
illness in healthy people. RAG1 https://ghr.nlm.nih.gov/gene/RAG1 db key
html:p In addition to immunodeficiency, children with Omenn syndrome develop related-gene gene-symbol ghr-page Orphanet 39041
autoimmunity, in which the immune system attacks the body's own tissues and RAG2 https://ghr.nlm.nih.gov/gene/RAG2 db key
organs. This abnormal immune reaction can cause very red skin (erythroderma), SNOMED CT 307650006
hair loss (alopecia), and an enlarged liver and spleen (hepatosplenomegaly). In db key
addition, affected individuals have enlargement of tissues that produce SNOMED CT 722067005
infection-fighting white blood cells called lymphocytes. These include the
thymus, which is a gland located behind the breastbone, and lymph nodes, which
are found throughout the body.
html:p If not treated in a way that restores immune function, children with Omenn
syndrome usually survive only until age 1 or 2.
related-gene-list
Ophthalmo-acromelic syndrome https://ghr.nlm.nih.gov/condition/ophthalmo-acromelic-syndrome The prevalence of ophthalmo-acromelic syndrome is not known; approximately html:p Ophthalmo-acromelic syndrome is a condition that results in malformations of the ar autosomal recessive SMOC1 https://ghr.nlm.nih.gov/gene/SMOC1 anophthalmia-syndactyly db key 2014-03 2017-12-29
35 cases have been reported in the medical literature. eyes, hands, and feet. The features of this condition are present from birth. anophthalmia-Waardenburg syndrome GTR C0599973
The eyes are often absent or severely underdeveloped (anophthalmia), or they may anophthalmos-limb anomalies syndrome db key
be abnormally small (microphthalmia). Usually both eyes are similarly affected anophthalmos with limb anomalies MeSH D000853
in this condition, but if only one eye is small or missing, the other eye may microphthalmia with limb anomalies db key
have a defect such as a gap or split in its structures (coloboma). OAS OMIM 206920
html:p The most common hand and foot malformation seen in ophthalmo-acromelic syndrome ophthalmoacromelic syndrome db key
is missing fingers or toes (oligodactyly). Other frequent malformations include syndactyly-anophthalmos syndrome Orphanet 1106
fingers or toes that are fused together (syndactyly) or extra fingers or toes Waardenburg anophthalmia syndrome db key
(polydactyly). These skeletal malformations are often described as acromelic, SNOMED CT 703403003
meaning that they occur in the bones that are away from the center of the body.
Additional skeletal abnormalities involving the long bones of the arms and legs
or the spinal bones (vertebrae) can also occur. Affected individuals may have
distinctive facial features, an opening in the lip (cleft lip) with or without
an opening in the roof of the mouth (cleft palate), or intellectual disability.
related-gene-list
Opioid addiction https://ghr.nlm.nih.gov/condition/opioid-addiction Misuse of prescription opioids and heroin affects more than 2 million html:p Opioid addiction is a long-lasting (chronic) disease that can cause major u pattern unknown ABCB1 https://ghr.nlm.nih.gov/gene/ABCB1 opiate addiction db key 2017-11 2017-12-29
鴉片類藥物成癮 Americans and an estimated 15 million people worldwide each year. The prevalence health, social, and economic problems. Opioids are a class of drugs that act in related-gene gene-symbol ghr-page opiate dependence GTR C1864733
of opioid misuse and addiction is rapidly increasing.In 2016, more than 20,000 the nervous system to produce feelings of pleasure and pain relief. Some opioids AVPR1A https://ghr.nlm.nih.gov/gene/AVPR1A opioid dependence db key
deaths in the United States were caused by an overdose of prescription opioids, are legally prescribed by healthcare providers to manage severe and chronic related-gene gene-symbol ghr-page GTR CN236652
and another 13,000 deaths resulted from heroin overdose. Drug overdoses are now pain. Commonly prescribed opioids include oxycodone, fentanyl, buprenorphine, BDNF https://ghr.nlm.nih.gov/gene/BDNF db key
the leading cause of death in U.S. adults under age 50, and opioids account for methadone, oxymorphone, hydrocodone, codeine, and morphine. Some other opioids, related-gene gene-symbol ghr-page ICD-10-CM F11.2
more than half of all drug overdose deaths. such as heroin, are illegal drugs of abuse. COMT https://ghr.nlm.nih.gov/gene/COMT db key
html:p Opioid addiction is characterized by a powerful, compulsive urge to use opioid related-gene gene-symbol ghr-page ICD-10-CM F11.20
drugs, even when they are no longer required medically. Opioids have a high CSNK1E https://ghr.nlm.nih.gov/gene/CSNK1E db key
potential for causing addiction in some people, even when the medications are related-gene gene-symbol ghr-page ICD-10-CM F11.21
prescribed appropriately and taken as directed. Many prescription opioids are CYP2B6 https://ghr.nlm.nih.gov/gene/CYP2B6 db key
misused or diverted to others. Individuals who become addicted may prioritize related-gene gene-symbol ghr-page ICD-10-CM F11.22
getting and using these drugs over other activities in their lives, often DRD2 https://ghr.nlm.nih.gov/gene/DRD2 db key
negatively impacting their professional and personal relationships. It is related-gene gene-symbol ghr-page ICD-10-CM F11.23
unknown why some people are more likely to become addicted than others. DRD3 https://ghr.nlm.nih.gov/gene/DRD3 db key
html:p Opioids change the chemistry of the brain and lead to drug tolerance, which related-gene gene-symbol ghr-page ICD-10-CM F11.24
means that over time the dose needs to be increased to achieve the same effect. DRD4 https://ghr.nlm.nih.gov/gene/DRD4 db key
Taking opioids over a long period of time produces dependence, such that when related-gene gene-symbol ghr-page ICD-10-CM F11.25
people stop taking the drug, they have physical and psychological symptoms of FKBP5 https://ghr.nlm.nih.gov/gene/FKBP5 db key
withdrawal (such as muscle cramping, diarrhea, and anxiety). Dependence is not related-gene gene-symbol ghr-page ICD-10-CM F11.28
the same thing as addiction; although everyone who takes opioids for an extended GABRG1 https://ghr.nlm.nih.gov/gene/GABRG1 db key
period will become dependent, only a small percentage also experience the related-gene gene-symbol ghr-page ICD-10-CM F11.29
compulsive, continuing need for the drug that characterizes addiction. GAD1 https://ghr.nlm.nih.gov/gene/GAD1 db key
html:p Opioid addiction can cause life-threatening health problems, including the risk related-gene gene-symbol ghr-page ICD-10-CM F11.220
of overdose. Overdose occurs when high doses of opioids cause breathing to slow GAL https://ghr.nlm.nih.gov/gene/GAL db key
or stop, leading to unconsciousness and death if the overdose is not treated related-gene gene-symbol ghr-page ICD-10-CM F11.221
immediately. Both legal and illegal opioids carry a risk of overdose if a person GRIN2A https://ghr.nlm.nih.gov/gene/GRIN2A db key
takes too much of the drug, or if opioids are combined with other drugs related-gene gene-symbol ghr-page ICD-10-CM F11.222
(particularly tranquilizers called benzodiazepines). HTR1B https://ghr.nlm.nih.gov/gene/HTR1B db key
related-gene gene-symbol ghr-page ICD-10-CM F11.229
OPRD1 https://ghr.nlm.nih.gov/gene/OPRD1 db key
related-gene gene-symbol ghr-page ICD-10-CM F11.250
OPRK1 https://ghr.nlm.nih.gov/gene/OPRK1 db key
related-gene gene-symbol ghr-page ICD-10-CM F11.251
OPRL1 https://ghr.nlm.nih.gov/gene/OPRL1 db key
related-gene gene-symbol ghr-page ICD-10-CM F11.259
OPRM1 https://ghr.nlm.nih.gov/gene/OPRM1 db key
related-gene gene-symbol ghr-page ICD-10-CM F11.281
PDYN https://ghr.nlm.nih.gov/gene/PDYN db key
related-gene gene-symbol ghr-page ICD-10-CM F11.282
PNOC https://ghr.nlm.nih.gov/gene/PNOC db key
ICD-10-CM F11.288
db key
MeSH D009293
db key
OMIM 610064
db key
SNOMED CT 2.9E+14
db key
related-gene-list SNOMED CT 75544000
Opitz G/BBB syndrome https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome X-linked Opitz G/BBB syndrome is thought to affect 1 in 10,000 to 50,000 html:p Opitz G/BBB syndrome is a genetic condition that causes several abnormalities ad autosomal dominant MID1 https://ghr.nlm.nih.gov/gene/MID1 hypertelorism-hypospadias sydrome db key 2015-01 2017-12-29
males, although it is likely that this condition is underdiagnosed.The incidence along the midline of the body. "G/BBB" represents the first letters of the last code memo related-gene gene-symbol ghr-page hypertelorism with esophageal abnormalities and hypospadias GTR C0175696
of autosomal dominant Opitz G/BBB syndrome is unknown. It is part of a larger names of the families first diagnosed with this disorder and "Opitz" is the last x X-linked SPECC1L https://ghr.nlm.nih.gov/gene/SPECC1L hypospadias-dysphagia syndrome db key
condition known as 22q11.2 deletion syndrome, which is estimated to affect 1 in name of the doctor who first described the signs and symptoms. There are two related-chromosome name ghr-page Opitz BBB syndrome GTR C1801950
4,000 people. forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal 22 https://ghr.nlm.nih.gov/chromosome/22 Opitz BBB/G syndrome db key
dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic Opitz-Frias syndrome GeneReviews gr_22q11deletion
causes and patterns of inheritance. The signs and symptoms of the two forms are Opitz G syndrome db key
generally the same. Opitz syndrome GeneReviews opitz
html:p Nearly everyone with Opitz G/BBB syndrome has wide-spaced eyes (ocular db key
hypertelorism). Affected individuals commonly have defects of the voice box MeSH D004062
(larynx), windpipe (trachea), or esophagus. These throat abnormalities can cause db key
difficulty swallowing or breathing, in some cases resulting in recurrent MeSH D040181
pneumonia or life-threatening breathing problems. A common defect is a gap db key
between the trachea and esophagus (laryngeal cleft) that allows food or fluids OMIM 145410
to enter the airway. The cleft can vary in size, and infants may struggle to db key
breathe when feeding. Most males with Opitz G/BBB syndrome have genital OMIM 300000
abnormalities such as the urethra opening on the underside of the penis db key
(hypospadias), undescended testes (cryptorchidism), an underdeveloped scrotum, Orphanet 2745
or a scrotum divided into two lobes (bifid scrotum). These genital abnormalities db key
can lead to problems in the urinary tract. SNOMED CT 81771002
html:p Mild intellectual disability and developmental delay occur in about 50 percent
of people with Opitz G/BBB syndrome. Affected individuals have delayed motor
skills, such as walking, speech delay, and learning difficulties. Some people
with Opitz G/BBB syndrome have features of autistic spectrum disorders, which
are characterized by impaired communication and socialization skills. About half
of affected individuals also have an opening in the lip (cleft lip) with or
without an opening in the roof of the mouth (cleft palate). Some have cleft
palate without cleft lip. Less common features of Opitz G/BBB syndrome,
affecting less than half of people with this disorder, include minor heart
defects, an obstruction of the anal opening (imperforate anus), and brain
defects such as a small or absent connection between the left and right halves
of the brain (corpus callosum). Distinct facial features that may be seen in
this disorder include a prominent forehead, widow's peak hairline, flat nasal
bridge, thin upper lip, and low-set ears. These features vary among affected
individuals, even within the same family.
related-gene-list
Optic atrophy type 1 https://ghr.nlm.nih.gov/condition/optic-atrophy-type-1 Optic atrophy type 1 is estimated to affect 1 in 35,000 people worldwide. html:p Optic atrophy type 1 is a condition that often causes slowly worsening vision, ad autosomal dominant OPA1 https://ghr.nlm.nih.gov/gene/OPA1 ADOA db key 2017-08 2017-12-29
视神经萎缩 This condition is more common in Denmark, where it affects approximately 1 in usually beginning in childhood. People with optic atrophy type 1 typically autosomal dominant optic atrophy GTR C0338508
10,000 people. experience a narrowing of their field of vision (tunnel vision). Affected autosomal dominant optic atrophy Kjer type db key
individuals gradually lose their sight as their field of vision becomes smaller. DOA GeneReviews opa
Both eyes are usually affected equally, but the severity of the vision loss dominant optic atrophy db key
varies widely, even among affected members of the same family, ranging from Kjer type optic atrophy ICD-10-CM H47.21
nearly normal vision to complete blindness. Kjer's optic atrophy db key
html:p In addition to vision loss, people with optic atrophy type 1 frequently have optic atrophy, autosomal dominant ICD-10-CM H47.22
problems with color vision (color vision deficiency) that make it difficult or optic atrophy, hereditary, autosomal dominant db key
impossible to distinguish between shades of blue and green. optic atrophy, juvenile ICD-10-CM H47.211
html:p In the early stages of the condition, individuals with optic atrophy type 1 optic atrophy, Kjer type db key
experience a progressive loss of certain cells within the retina, which is a ICD-10-CM H47.212
specialized light-sensitive tissue that lines the back of the eye. The loss of db key
these cells (known as retinal ganglion cells) is followed by the degeneration ICD-10-CM H47.213
(atrophy) of the nerves that relay visual information from the eye to the brain db key
(optic nerves), which results in further vision loss. Atrophy causes these ICD-10-CM H47.219
nerves to have an abnormally pale appearance (pallor), which can be seen during db key
an eye examination. MeSH D029241
db key
OMIM 165500
db key
Orphanet 103
db key
related-gene-list SNOMED CT 2065009
Oral-facial-digital syndrome https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to html:p Oral-facial-digital syndrome is actually a group of related conditions that ar autosomal recessive OFD1 https://ghr.nlm.nih.gov/gene/OFD1 dysplasia linguofacialis db key 2010-02 2017-12-29
Oral-Facial-Digital 症候群 250,000 newborns. Type I accounts for the majority of cases of this disorder. affect the development of the oral cavity (the mouth and teeth), facial code memo OFDS GTR C0026363
顏面－指趾徵候群 The other forms of oral-facial-digital syndrome are very rare; most have been features, and digits (fingers and toes). xd X-linked dominant oro-facio-digital syndrome db key
identified in only one or a few families. html:p Researchers have identified at least 13 potential forms of oral-facial-digital orodigitofacial dysostosis GTR C0029294
syndrome. The different types are classified by their patterns of signs and orodigitofacial syndrome db key
symptoms. However, the features of the various types overlap significantly, and orofaciodigital syndrome GTR C0406726
some types are not well defined. The classification system for db key
oral-facial-digital syndrome continues to evolve as researchers find more GTR C0406727
affected individuals and learn more about this disorder. db key
html:p The signs and symptoms of oral-facial-digital syndrome vary widely. However, GTR C0796100
most forms of this disorder involve problems with development of the oral db key
cavity, facial features, and digits. Most forms are also associated with brain GTR C0796101
abnormalities and some degree of intellectual disability. db key
html:p Abnormalities of the oral cavity that occur in many types of oral-facial-digital GTR C0796102
syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed db key
shape, and the growth of noncancerous tumors or nodules on the tongue. Affected GTR C1510460
individuals may also have extra, missing, or defective teeth. Another common db key
feature is an opening in the roof of the mouth (a cleft palate). Some people GTR C1833796
with oral-facial-digital syndrome have bands of extra tissue (called db key
hyperplastic frenula) that abnormally attach the lip to the gums. GTR C1868118
html:p Distinctive facial features often associated with oral-facial-digital syndrome db key
include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal GTR C2745997
bridge; and widely spaced eyes (hypertelorism). db key
html:p Abnormalities of the digits can affect both the fingers and the toes in people GTR C2752048
with oral-facial-digital syndrome. These abnormalities include fusion of certain db key
fingers or toes (syndactyly), digits that are shorter than usual GeneReviews ofd1
(brachydactyly), or digits that are unusually curved (clinodactyly). The db key
presence of extra digits (polydactyly) is also seen in most forms of MeSH D009958
oral-facial-digital syndrome. db key
html:p Other features occur in only one or a few types of oral-facial digital syndrome. OMIM 165590
These features help distinguish the different forms of the disorder. For db key
example, the most common form of oral-facial-digital syndrome, type I, is OMIM 174300
associated with polycystic kidney disease. This kidney disease is characterized db key
by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' OMIM 252100
ability to filter waste products from the blood. Other forms of db key
oral-facial-digital syndrome are characterized by neurological problems, OMIM 258850
particular changes in the structure of the brain, bone abnormalities, vision db key
loss, and heart defects. OMIM 258860
db key
OMIM 258865
db key
OMIM 277170
db key
OMIM 300484
db key
OMIM 311200
db key
OMIM 608518
db key
OMIM 612913
db key
Orphanet 2750
db key
Orphanet 2751
db key
Orphanet 2752
db key
Orphanet 2753
db key
Orphanet 2755
db key
Orphanet 2756
db key
Orphanet 2919
db key
Orphanet 141000
db key
Orphanet 141007
db key
Orphanet 90649
db key
related-gene-list SNOMED CT 52868006
Ornithine transcarbamylase deficiency https://ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency Estimates of the prevalence of ornithine transcarbamylase deficiency have html:p Ornithine transcarbamylase deficiency is an inherited disorder that causes xr X-linked recessive OTC https://ghr.nlm.nih.gov/gene/OTC Ornithine Carbamoyltransferase Deficiency Disease db key 2017-10 2017-12-29
鳥胺酸氨甲醯基轉移酶缺乏症 ranged from 1 in 14,000 to 1 in 77,000 people. Individuals with the ammonia to accumulate in the blood. Ammonia, which is formed when proteins are GTR C0268542
Gyrate atrophy of the choroid and retina neonatal-onset form of the disorder are more likely to be counted in these broken down in the body, is toxic if the levels become too high. The nervous db key
鳥胺酸酮酸轉胺酵素缺乏症 estimates, because people with the late-onset form are less likely to come to system is especially sensitive to the effects of excess ammonia. GeneReviews otc-def
medical attention. html:p Ornithine transcarbamylase deficiency can become evident at any age. The most db key
severe form occurs in the first few days of life. This neonatal-onset form of GeneReviews ucd-overview
the disorder usually affects males; it is very rare in females. An infant with db key
the neonatal-onset form of ornithine transcarbamylase deficiency may be lacking ICD-10-CM E72.29
in energy (lethargic) or unwilling to eat, and have a poorly-controlled db key
breathing rate or body temperature. Infants with this disorder may be described MeSH D020163
as "floppy" and can experience seizures or coma. Complications from ornithine db key
transcarbamylase deficiency may include developmental delay and intellectual OMIM 311250
disability. Progressive liver damage may also occur. db key
html:p In some affected individuals, signs and symptoms of ornithine transcarbamylase Orphanet 664
deficiency may be less severe, and may not appear until later in life. The db key
late-onset form of the disorder occurs in both males and females. People with SNOMED CT 80908008
late-onset ornithine transcarbamylase deficiency may experience episodes of
altered mental status, such as delirium, erratic behavior, or a reduced level of
consciousness. Headaches, vomiting, aversion to protein foods, and seizures can
also occur in this form of the disorder.
related-gene-list
Ornithine translocase deficiency https://ghr.nlm.nih.gov/condition/ornithine-translocase-deficiency Ornithine translocase deficiency is a very rare disorder. Fewer than 100 html:p Ornithine translocase deficiency is an inherited disorder that causes ammonia to ar autosomal recessive SLC25A15 https://ghr.nlm.nih.gov/gene/SLC25A15 HHH syndrome db key 2006-11 2017-12-29
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome， HHH affected individuals have been reported worldwide. accumulate in the blood. Ammonia, which is formed when proteins are broken down hyperornithinemia-hyperammonemia-homocitrullinemia syndrome GTR C0268540
高鳥胺酸血症-高氨血症-高瓜胺酸血症候群 in the body, is toxic if the levels become too high. The nervous system is hyperornithinemia-hyperammonemia-homocitrullinuria syndrome db key
especially sensitive to the effects of excess ammonia. Triple H syndrome GeneReviews hhhs
html:p Ornithine translocase deficiency varies widely in its severity and age of onset. db key
An infant with ornithine translocase deficiency may be lacking in energy GeneReviews ucd-overview
(lethargic) or refuse to eat, or have poorly controlled breathing or body db key
temperature. Some babies with this disorder may experience seizures or unusual MeSH D056806
body movements, or go into a coma. Episodes of illness may coincide with the db key
introduction of high-protein formulas or solid foods into the diet. OMIM 238970
html:p In most affected individuals, signs and symptoms of ornithine translocase db key
deficiency do not appear until later in life. Later-onset forms of ornithine Orphanet 415
translocase deficiency are usually less severe than the infantile form. Some db key
people with later-onset ornithine translocase deficiency cannot tolerate SNOMED CT 30287008
high-protein foods, such as meat. Occasionally, high-protein meals or stress
caused by illness or periods without food (fasting) may cause ammonia to
accumulate more quickly in the blood. This rapid increase of ammonia may lead to
episodes of vomiting, lack of energy (lethargy), problems with coordination
(ataxia), confusion, or blurred vision. Complications of ornithine translocase
deficiency may include developmental delay, learning disabilities, and stiffness
caused by abnormal tensing of the muscles (spasticity).
related-gene-list
Osteoarthritis https://ghr.nlm.nih.gov/condition/osteoarthritis Osteoarthritis is a very common condition, affecting about 23 percent of html:p Osteoarthritis is a common disease of the joints that primarily occurs in older u pattern unknown ALDH1A2 https://ghr.nlm.nih.gov/gene/ALDH1A2 arthritis, degenerative db key 2017-10 2017-12-29
骨關節炎 adults in the United States. In middle age it affects more women than men, but adults. This condition is characterized by the breakdown of cartilage, the tough related-gene gene-symbol ghr-page arthropathy GTR C0029408
by about age 70 most people of both sexes have some symptoms of the condition. but flexible tissue that covers the ends of the bones at the joints and allows ASTN2 https://ghr.nlm.nih.gov/gene/ASTN2 degenerative joint disease db key
Severe osteoarthritis is a major contributor to disability worldwide.The smooth joint movements. One or more parts of the body can be affected, most related-gene gene-symbol ghr-page degenerative polyarthritis GTR C1835815
prevalence of osteoarthritis has doubled in the United States since the 1940s, often the hands, shoulders, spine, knees, or hips. COL11A1 https://ghr.nlm.nih.gov/gene/COL11A1 hypertrophic arthritis db key
and research indicates that longer lifespans and higher rates of obesity do not html:p Osteoarthritis usually develops slowly, causing pain, stiffness, and restricted related-gene gene-symbol ghr-page OA GTR C2675609
fully explain the increase. Scientists suggest that other, undetermined features movement as the condition gets worse. Areas of bone no longer cushioned by DOT1L https://ghr.nlm.nih.gov/gene/DOT1L osteoarthritis deformans db key
of modern life are involved in the development of the condition. cartilage rub against each other and start to break down. Further damage is related-gene gene-symbol ghr-page osteoarthrosis ICD-10-CM M15
caused as the body attempts to repair and rebuild these tissues. The immune GDF5 https://ghr.nlm.nih.gov/gene/GDF5 db key
system, which plays a role in healing injuries, targets these areas, and its related-gene gene-symbol ghr-page MeSH D010003
response leads to inflammation of the joint tissues. Abnormal growths of bone MCF2L https://ghr.nlm.nih.gov/gene/MCF2L db key
(osteophytes) and other tissue can also occur, and may be visible as enlarged related-gene gene-symbol ghr-page OMIM 140600
joints. Enlargement of the joints of the fingers is especially noticeable. NCOA3 https://ghr.nlm.nih.gov/gene/NCOA3 db key
html:p People with osteoarthritis typically experience stiffness following periods of OMIM 165720
inactivity such as upon awakening or rising from a chair; the stiffness usually db key
improves as they move around. In some affected individuals, the condition never OMIM 607850
causes major problems. In others, severe osteoarthritis can impair mobility and db key
the ability to perform daily tasks, affecting quality of life and increasing the OMIM 610839
risk of other health conditions such as cardiovascular disease. db key
html:p Osteoarthritis is most common in middle age or late adulthood, because the OMIM 612400
cartilage at the joints naturally begins to thin as people age. However, it can db key
occur earlier in life, especially after injuries affecting the joints such as a OMIM 612401
type of knee injury called an anterior cruciate ligament (ACL) tear. People who db key
are overweight or whose activities are particularly stressful to the joints are SNOMED CT 396275006
also at increased risk of developing osteoarthritis.
related-gene-list
Osteogenesis imperfecta https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta This condition affects an estimated 6 to 7 per 100,000 people worldwide. html:p Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect ad autosomal dominant COL1A1 https://ghr.nlm.nih.gov/gene/COL1A1 Brittle bone disease db key 2013-04 2017-12-29
成骨不全症 Types I and IV are the most common forms of osteogenesis imperfecta, affecting 4 the bones. The term "osteogenesis imperfecta" means imperfect bone formation. code memo related-gene gene-symbol ghr-page Fragilitas ossium GTR C0023931
成骨發育不全(玻璃娃娃) to 5 per 100,000 people. People with this condition have bones that break easily, often from mild trauma ar autosomal recessive COL1A2 https://ghr.nlm.nih.gov/gene/COL1A2 OI db key
or with no apparent cause. Multiple fractures are common, and in severe cases, related-gene gene-symbol ghr-page Vrolik disease GTR C0029434
can occur even before birth. Milder cases may involve only a few fractures over CRTAP https://ghr.nlm.nih.gov/gene/CRTAP db key
a person's lifetime. related-gene gene-symbol ghr-page GTR C0268360
html:p There are at least eight recognized forms of osteogenesis imperfecta, designated P3H1 https://ghr.nlm.nih.gov/gene/P3H1 db key
type I through type VIII. The types can be distinguished by their signs and GTR C0268362
symptoms, although their characteristic features overlap. Type I is the mildest db key
form of osteogenesis imperfecta and type II is the most severe; other types of GTR C0268363
this condition have signs and symptoms that fall somewhere between these two db key
extremes. Increasingly, genetic factors are used to define the different forms GTR C1850169
of osteogenesis imperfecta. db key
html:p The milder forms of osteogenesis imperfecta, including type I, are characterized GTR C1853162
by bone fractures during childhood and adolescence that often result from minor db key
trauma. Fractures occur less frequently in adulthood. People with mild forms GTR C1970414
of the condition typically have a blue or grey tint to the part of the eye that db key
is usually white (the sclera), and may develop hearing loss in adulthood. GTR C1970458
Affected individuals are usually of normal or near normal height. db key
html:p Other types of osteogenesis imperfecta are more severe, causing frequent bone GTR C3151211
fractures that may begin before birth and result from little or no trauma. db key
Additional features of these conditions can include blue sclerae, short stature, GTR C3151218
hearing loss, respiratory problems, and a disorder of tooth development called db key
dentinogenesis imperfecta. The most severe forms of osteogenesis imperfecta, GTR C3151433
particularly type II, can include an abnormally small, fragile rib cage and db key
underdeveloped lungs. Infants with these abnormalities have life-threatening GeneReviews oi
problems with breathing and often die shortly after birth. db key
ICD-10-CM Q78.0
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MeSH D010013
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OMIM 166200
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OMIM 166210
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OMIM 166220
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OMIM 259420
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OMIM 610682
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OMIM 610915
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OMIM 610967
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OMIM 610968
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Orphanet 666
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SNOMED CT 205496008
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SNOMED CT 205497004
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SNOMED CT 254110009
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SNOMED CT 385482004
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SNOMED CT 385483009
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SNOMED CT 78314001
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related-gene-list SNOMED CT 86470003
Osteoglophonic dysplasia https://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia Osteoglophonic dysplasia is a rare disorder; its prevalence is unknown. html:p Osteoglophonic dysplasia is a condition characterized by abnormal bone growth ad autosomal dominant FGFR1 https://ghr.nlm.nih.gov/gene/FGFR1 Fairbank-Keats syndrome db key 2013-07 2017-12-29
Only about 15 cases have been reported in the medical literature. that leads to severe head and face (craniofacial) abnormalities, dwarfism, and OGD GTR C0432283
other features. The term osteoglophonic refers to the bones (osteo-) having osteoglophonic dwarfism db key
distinctive hollowed out (-glophonic) areas that appear as holes on x-ray MeSH D004392
images. db key
html:p Premature fusion of certain bones in the skull (craniosynostosis) typically OMIM 166250
occurs in osteoglophonic dysplasia. The craniosynostosis associated with this db key
disorder may give the head a tall appearance, often referred to in the medical Orphanet 2645
literature as a tower-shaped skull, or a relatively mild version of a deformity db key
called a cloverleaf skull. Characteristic facial features in people with SNOMED CT 254144002
osteoglophonic dysplasia include a prominent forehead (frontal bossing), widely
spaced eyes (hypertelorism), flattening of the bridge of the nose and of the
middle of the face (midface hypoplasia), a large tongue (macroglossia), a
protruding jaw (prognathism), and a short neck. People with this condition
usually have no visible teeth because the teeth never emerge from the jaw
(clinical anodontia). In addition, the gums are often overgrown (hypertrophic
gingiva).
html:p Infants with osteoglophonic dysplasia often experience failure to thrive, which
means they do not gain weight and grow at the expected rate. Affected
individuals have short, bowed legs and arms and are short in stature. They also
have flat feet and short, broad hands and fingers.
html:p The life expectancy of people with osteoglophonic dysplasia depends on the
extent of their craniofacial abnormalities; those that obstruct the air passages
and affect the mouth and teeth can lead to respiratory problems and cause
difficulty with eating and drinking. Despite the skull abnormalities,
intelligence is generally not affected in this disorder.
related-gene-list
Osteopetrosis https://ghr.nlm.nih.gov/condition/osteopetrosis Autosomal dominant osteopetrosis is the most common form of the disorder, html:p Osteopetrosis is a bone disease that makes bones abnormally dense and prone to ad autosomal dominant CA2 https://ghr.nlm.nih.gov/gene/CA2 congenital osteopetrosis db key 2010-09 2017-12-29
骨質石化症 affecting about 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, breakage (fracture). Researchers have described several major types of code memo related-gene gene-symbol ghr-page marble bone disease GTR C0345407
occurring in an estimated 1 in 250,000 people.Other forms of osteopetrosis are osteopetrosis, which are usually distinguished by their pattern of inheritance: ar autosomal recessive CLCN7 https://ghr.nlm.nih.gov/gene/CLCN7 osteopetroses db key
very rare. Only a few cases of intermediate autosomal osteopetrosis and autosomal dominant, autosomal recessive, or X-linked. The different types of the code memo related-gene gene-symbol ghr-page GTR C1833700
OL-EDA-ID have been reported in the medical literature. disorder can also be distinguished by the severity of their signs and symptoms. xr X-linked recessive IKBKG https://ghr.nlm.nih.gov/gene/IKBKG db key
html:p Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg related-gene gene-symbol ghr-page GTR C1838258
disease, is typically the mildest type of the disorder. Some affected ITGB3 https://ghr.nlm.nih.gov/gene/ITGB3 db key
individuals have no symptoms. In these people, the unusually dense bones may be related-gene gene-symbol ghr-page GTR C1843330
discovered by accident when an x-ray is done for another reason. In affected OSTM1 https://ghr.nlm.nih.gov/gene/OSTM1 db key
individuals who develop signs and symptoms, the major features of the condition related-gene gene-symbol ghr-page GTR C1845919
include multiple bone fractures, abnormal side-to-side curvature of the spine PLEKHM1 https://ghr.nlm.nih.gov/gene/PLEKHM1 db key
(scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone related-gene gene-symbol ghr-page GTR C1850126
infection called osteomyelitis. These problems usually become apparent in late TCIRG1 https://ghr.nlm.nih.gov/gene/TCIRG1 db key
childhood or adolescence. related-gene gene-symbol ghr-page GTR C1850127
html:p Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder TNFRSF11A https://ghr.nlm.nih.gov/gene/TNFRSF11A db key
that becomes apparent in early infancy. Affected individuals have a high risk of related-gene gene-symbol ghr-page GTR C1968603
bone fracture resulting from seemingly minor bumps and falls. Their abnormally TNFSF11 https://ghr.nlm.nih.gov/gene/TNFSF11 db key
dense skull bones pinch nerves in the head and face (cranial nerves), often GTR C1969093
resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense db key
bones can also impair the function of bone marrow, preventing it from producing GTR C1969106
new blood cells and immune system cells. As a result, people with severe db key
osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells GTR C2676766
(anemia), and recurrent infections. In the most severe cases, these bone marrow db key
abnormalities can be life-threatening in infancy or early childhood. GeneReviews clcn7
html:p Other features of autosomal recessive osteopetrosis can include slow growth and db key
short stature, dental abnormalities, and an enlarged liver and spleen ICD-10-CM Q78.2
(hepatosplenomegaly). Depending on the genetic changes involved, people with db key
severe osteopetrosis can also have brain abnormalities, intellectual disability, MeSH D010022
or recurrent seizures (epilepsy). db key
html:p A few individuals have been diagnosed with intermediate autosomal osteopetrosis OMIM 166600
(IAO), a form of the disorder that can have either an autosomal dominant or an db key
autosomal recessive pattern of inheritance. The signs and symptoms of this OMIM 259700
condition become noticeable in childhood and include an increased risk of bone db key
fracture and anemia. People with this form of the disorder typically do not have OMIM 259710
life-threatening bone marrow abnormalities. However, some affected individuals db key
have had abnormal calcium deposits (calcifications) in the brain, intellectual OMIM 259720
disability, and a form of kidney disease called renal tubular acidosis. db key
html:p Rarely, osteopetrosis can have an X-linked pattern of inheritance. In addition OMIM 259730
to abnormally dense bones, the X-linked form of the disorder is characterized by db key
abnormal swelling caused by a buildup of fluid (lymphedema) and a condition OMIM 300301
called anhydrotic ectodermal dysplasia that affects the skin, hair, teeth, and db key
sweat glands. Affected individuals also have a malfunctioning immune system OMIM 600329
(immunodeficiency), which allows severe, recurrent infections to develop. db key
Researchers often refer to this condition as OL-EDA-ID, an acronym derived from OMIM 611490
each of the major features of the disorder. db key
OMIM 611497
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OMIM 612301
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Orphanet 2781
db key
SNOMED CT 1926006
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SNOMED CT 254121000
db key
related-gene-list SNOMED CT 254122007
Osteoporosis-pseudoglioma syndrome https://ghr.nlm.nih.gov/condition/osteoporosis-pseudoglioma-syndrome Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in html:p Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe ar autosomal recessive LRP5 https://ghr.nlm.nih.gov/gene/LRP5 OPPG db key 2013-01 2017-12-29
approximately 1 in 2 million people. thinning of the bones (osteoporosis) and eye abnormalities that lead to vision osteogenesis imperfecta, ocular form GTR C0432252
loss. In people with this condition, osteoporosis is usually recognized in early db key
childhood. It is caused by a shortage of minerals, such as calcium, in bones MeSH D010024
(decreased bone mineral density), which makes the bones brittle and prone to db key
fracture. Affected individuals often have multiple bone fractures, including in OMIM 259770
the bones that form the spine (vertebrae). Multiple fractures can cause collapse db key
of the affected vertebrae (compressed vertebrae), abnormal side-to-side Orphanet 2788
curvature of the spine (scoliosis), short stature, and limb deformities. db key
Decreased bone mineral density can also cause softening or thinning of the skull SNOMED CT 254112001
(craniotabes).
html:p Most affected individuals have impaired vision at birth or by early infancy and
are blind by young adulthood. Vision problems are usually caused by one of
several eye conditions, grouped together as pseudoglioma, that affect the
light-sensitive tissue at the back of the eye (the retina), although other eye
conditions have been identified in affected individuals. Pseudogliomas are so
named because, on examination, the conditions resemble an eye tumor known as a
retinal glioma.
html:p Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or
symptoms such as mild intellectual disability, weak muscle tone (hypotonia),
abnormally flexible joints, or seizures.
Otopalatodigital Spectrum Disorders
泛耳-齶-指(趾)症候群
related-gene-list
Otopalatodigital syndrome type 1 https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-1 Otopalatodigital syndrome type 1 is a rare disorder, affecting fewer than 1 html:p Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities xd X-linked dominant FLNA https://ghr.nlm.nih.gov/gene/FLNA cranioorodigital syndrome db key 2007-11 2017-12-29
耳-齶-指（趾）症候群第一型 in every 100,000 individuals. Its specific incidence is unknown. in skeletal development. It is a member of a group of related conditions called faciopalatoosseous syndrome GTR C0265251
otopalatodigital spectrum disorders, which also includes otopalatodigital FPO db key
syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In OPD syndrome, type 1 GeneReviews opd
general, these disorders involve hearing loss caused by malformations in the oto-palato-digital syndrome, type I db key
tiny bones in the ears (ossicles), problems in the development of the roof of Taybi syndrome MeSH D010009
the mouth (palate), and skeletal abnormalities involving the fingers and/or toes db key
(digits). OMIM 311300
html:p Otopalatodigital syndrome type 1 is usually the mildest of the otopalatodigital db key
spectrum disorders. People with this condition usually have characteristic Orphanet 669
facial features including wide-set and downward-slanting eyes; prominent brow db key
ridges; and a small, flat nose. Affected individuals also have hearing loss and SNOMED CT 54036001
chest deformities. They have abnormalities of the fingers and toes, such as
blunt, square-shaped (spatulate) fingertips; shortened thumbs and big toes; and
unusually long second toes.
html:p Affected individuals may be born with an opening in the roof of the mouth (a
cleft palate). They may have mildly bowed limbs, and limited range of motion in
some joints. People with otopalatodigital syndrome type 1 may be somewhat
shorter than other members of their family. Males with this disorder often have
more severe signs and symptoms than do females, who may show only the
characteristic facial features.
related-gene-list
Otopalatodigital syndrome type 2 https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2 Otopalatodigital syndrome type 2 is a rare disorder, affecting fewer than 1 html:p Otopalatodigital syndrome type 2 is a disorder involving abnormalities in xd X-linked dominant FLNA https://ghr.nlm.nih.gov/gene/FLNA cranioorodigital syndrome db key 2007-11 2017-12-29
耳-齶-指（趾）症候群第2型 in every 100,000 individuals. Its specific incidence is unknown. skeletal development and other health problems. It is a member of a group of faciopalatoosseous syndrome GTR C1844696
related conditions called otopalatodigital spectrum disorders, which also FPO db key
includes otopalatodigital syndrome type 1, frontometaphyseal dysplasia, and OPD syndrome, type 2 GeneReviews opd
Melnick-Needles syndrome. In general, these disorders involve hearing loss oto-palato-digital syndrome, type II db key
caused by malformations in the tiny bones in the ears (ossicles), problems in Taybi syndrome MeSH D010009
the development of the roof of the mouth (palate), and skeletal abnormalities db key
involving the fingers and/or toes (digits). Otopalatodigital syndrome type 2 OMIM 304120
also tends to cause problems in other areas of the body, such as the brain and db key
heart. Orphanet 669
html:p People with otopalatodigital syndrome type 2 have characteristic facial features db key
including wide-set and downward-slanting eyes; prominent brow ridges; a broad, SNOMED CT 42432003
flat nose; and a very small lower jaw and chin (micrognathia). The base of the
skull may be thickened. Some people with this disorder have hearing loss.
Affected individuals are usually of short stature and may have abnormalities of
the fingers and toes, such as unusual curvature of the fingers (camptodactyly)
and shortened or absent thumbs and big toes. They may have bowed limbs;
underdeveloped, irregular ribs that may cause problems with breathing; and other
abnormal or absent bones. Some may be born with an opening in the roof of the
mouth (a cleft palate).
html:p In addition to skeletal abnormalities, individuals with otopalatodigital
syndrome type 2 may have developmental delay, increased fluid in the center of
the brain (hydrocephalus), protrusion of the abdominal organs through the navel
(omphalocele), heart defects, chest abnormalities, obstruction of the ducts
between the kidneys and bladder (ureters), and, in males, opening of the urethra
on the underside of the penis (hypospadias).
html:p Males with otopalatodigital syndrome type 2 generally have much more severe
signs and symptoms than do females. Males with the disorder usually do not live
beyond their first year, because their underdeveloped rib cage does not allow
sufficient lung expansion for breathing.
related-gene-list
Otospondylomegaepiphyseal dysplasia https://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia This condition is rare; its prevalence is unknown. Only a few families with html:p Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by ar autosomal recessive COL11A2 https://ghr.nlm.nih.gov/gene/COL11A2 chondrodystrophy with sensorineural deafness db key 2016-05 2017-12-29
耳脊椎骨骺发育不良 OSMED worldwide have been described in the medical literature. skeletal abnormalities, distinctive facial features, and severe hearing loss. Insley-Astley syndrome GTR C0432210
The term "otospondylomegaepiphyseal" refers to the parts of the body that this mega-epiphyseal dwarfism db key
condition affects: the ears (oto-), the bones of the spine (spondylo-), and the Nance-Insley syndrome MeSH D003095
ends (epiphyses) of long bones in the arms and legs. The features of this Nance-Sweeney chondrodysplasia db key
condition significantly overlap those of two similar conditions, OSMED OMIM 215150
Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of these oto-spondylo-megaepiphyseal dysplasia db key
conditions are caused by mutations in the same gene, and in some cases, it can Orphanet 1427
be difficult to tell the conditions apart. Some researchers believe they db key
represent a single disorder with a range of signs and symptoms. SNOMED CT 254060000
html:p People with OSMED are often shorter than average because the long bones in their
legs are unusually short. Other skeletal features include enlarged joints;
short arms, hands, and fingers; and flattened bones of the spine
(platyspondyly). People with the disorder often experience back and joint pain,
limited joint movement, and arthritis that begins early in life.
html:p Severe high-frequency hearing loss is common in people with OSMED. Typical
facial features include protruding eyes; a flattened bridge of the nose; an
upturned nose with a large, rounded tip; and a small lower jaw. Almost all
affected infants are born with an opening in the roof of the mouth (a cleft
palate).
related-gene-list
Otulipenia https://ghr.nlm.nih.gov/condition/otulipenia The prevalence of otulipenia is not known. At least four cases have been html:p Otulipenia is characterized by abnormal inflammation throughout the body. ar autosomal recessive OTULIN https://ghr.nlm.nih.gov/gene/OTULIN AIPDS db key 2016-12 2017-12-29
reported in the medical literature. Inflammation is a normal immune system response to injury and foreign invaders autoinflammation, panniculitis, and dermatosis syndrome GTR C4310614
(such as bacteria). However, the uncontrolled inflammation that occurs in ORAS db key
otulipenia can damage many of the body's tissues and organs, including the OTULIN-related autoinflammatory syndrome MeSH D056660
gastrointestinal system, joints, and skin. Disorders such as otulipenia that db key
result from abnormally increased inflammation are known as autoinflammatory OMIM 617099
diseases.
html:p Signs and symptoms of otulipenia usually begin within the first few weeks of
life, with recurring episodes of fever; diarrhea; painful, swollen joints; and
skin rashes. The skin rashes are due to inflammation of the layer of fatty
tissue under the skin (panniculitis), which causes painful red bumps. Some
people with otulipenia have an abnormal distribution of fatty tissue in their
bodies (lipodystrophy). Affected infants have difficulty growing and gaining
weight at the expected rate (failure to thrive). Damage to the body's tissues
and organs caused by inflammation is life-threatening if the condition is not
treated.
related-gene-list
Ovarian cancer https://ghr.nlm.nih.gov/condition/ovarian-cancer Ovarian cancer is diagnosed in about 22,000 women in the United States each html:p Ovarian cancer is a disease that affects women. In this form of cancer, certain ad autosomal dominant AKT1 https://ghr.nlm.nih.gov/gene/AKT1 cancer of the ovary db key 2015-10 2017-12-29
(Cancer) year. A woman's lifetime risk of developing ovarian cancer is about 1 in 75. cells in the ovary become abnormal and multiply uncontrollably to form a tumor. code memo related-gene gene-symbol ghr-page malignant neoplasm of the ovary GTR C1140680
卵巢癌 The ovaries are the female reproductive organs in which egg cells are produced. n not inherited BARD1 https://ghr.nlm.nih.gov/gene/BARD1 malignant tumor of the ovary db key
In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases code memo related-gene gene-symbol ghr-page ovarian carcinoma GeneReviews brca1
occur after age 60. u pattern unknown BRCA1 https://ghr.nlm.nih.gov/gene/BRCA1 db key
html:p The most common form of ovarian cancer begins in epithelial cells, which are the related-gene gene-symbol ghr-page ICD-10-CM C56
cells that line the surfaces and cavities of the body. These cancers can arise BRCA2 https://ghr.nlm.nih.gov/gene/BRCA2 db key
in the epithelial cells on the surface of the ovary. However, researchers related-gene gene-symbol ghr-page ICD-10-CM C56.1
suggest that many or even most ovarian cancers begin in epithelial cells on the BRIP1 https://ghr.nlm.nih.gov/gene/BRIP1 db key
fringes (fimbriae) at the end of one of the fallopian tubes, and the cancerous related-gene gene-symbol ghr-page ICD-10-CM C56.2
cells migrate to the ovary. CDH1 https://ghr.nlm.nih.gov/gene/CDH1 db key
html:p Cancer can also begin in epithelial cells that form the lining of the abdomen related-gene gene-symbol ghr-page ICD-10-CM C56.9
(the peritoneum). This form of cancer, called primary peritoneal cancer, CHEK2 https://ghr.nlm.nih.gov/gene/CHEK2 db key
resembles epithelial ovarian cancer in its origin, symptoms, progression, and related-gene gene-symbol ghr-page MeSH D010051
treatment. Primary peritoneal cancer often spreads to the ovaries. It can also CTNNB1 https://ghr.nlm.nih.gov/gene/CTNNB1 db key
occur even if the ovaries have been removed. Because cancers that begin in the related-gene gene-symbol ghr-page OMIM 167000
ovaries, fallopian tubes, and peritoneum are so similar and spread easily from MLH1 https://ghr.nlm.nih.gov/gene/MLH1 db key
one of these structures to the others, they are often difficult to distinguish. related-gene gene-symbol ghr-page OMIM 604370
These cancers are so closely related that they are generally considered MRE11 https://ghr.nlm.nih.gov/gene/MRE11 db key
collectively by experts. related-gene gene-symbol ghr-page OMIM 607893
html:p In about 10 percent of cases, ovarian cancer develops not in epithelial cells MSH2 https://ghr.nlm.nih.gov/gene/MSH2 db key
but in germ cells, which are precursors to egg cells, or in hormone-producing related-gene gene-symbol ghr-page OMIM 612555
ovarian cells called granulosa cells. MSH6 https://ghr.nlm.nih.gov/gene/MSH6 db key
html:p In its early stages, ovarian cancer usually does not cause noticeable symptoms. related-gene gene-symbol ghr-page OMIM 613399
As the cancer progresses, signs and symptoms can include pain or a feeling of NBN https://ghr.nlm.nih.gov/gene/NBN db key
heaviness in the pelvis or lower abdomen, bloating, feeling full quickly when related-gene gene-symbol ghr-page OMIM 614291
eating, back pain, vaginal bleeding between menstrual periods or after OPCML https://ghr.nlm.nih.gov/gene/OPCML db key
menopause, or changes in urinary or bowel habits. However, these changes can related-gene gene-symbol ghr-page Orphanet 213500
occur as part of many different conditions. Having one or more of these symptoms PALB2 https://ghr.nlm.nih.gov/gene/PALB2 db key
does not mean that a woman has ovarian cancer. related-gene gene-symbol ghr-page SNOMED CT 363443007
html:p In some cases, cancerous tumors can invade surrounding tissue and spread to PIK3CA https://ghr.nlm.nih.gov/gene/PIK3CA
other parts of the body. If ovarian cancer spreads, cancerous tumors most often related-gene gene-symbol ghr-page
appear in the abdominal cavity or on the surfaces of nearby organs such as the PMS2 https://ghr.nlm.nih.gov/gene/PMS2
bladder or colon. Tumors that begin at one site and then spread to other areas related-gene gene-symbol ghr-page
of the body are called metastatic cancers. PRKN https://ghr.nlm.nih.gov/gene/PRKN
html:p Some ovarian cancers cluster in families. These cancers are described as related-gene gene-symbol ghr-page
hereditary and are associated with inherited gene mutations. Hereditary ovarian RAD50 https://ghr.nlm.nih.gov/gene/RAD50
cancers tend to develop earlier in life than non-inherited (sporadic) cases. related-gene gene-symbol ghr-page
html:p Because it is often diagnosed at a late stage, ovarian cancer can be difficult RAD51C https://ghr.nlm.nih.gov/gene/RAD51C
to treat; it leads to the deaths of about 14,000 women annually in the United related-gene gene-symbol ghr-page
States, more than any other gynecological cancer. However, when it is diagnosed RAD51D https://ghr.nlm.nih.gov/gene/RAD51D
and treated early, the 5-year survival rate is high. related-gene gene-symbol ghr-page
STK11 https://ghr.nlm.nih.gov/gene/STK11
related-gene gene-symbol ghr-page
TP53 https://ghr.nlm.nih.gov/gene/TP53
related-gene-list
Pachyonychia congenita https://ghr.nlm.nih.gov/condition/pachyonychia-congenita Although the prevalence of pachyonychia congenita is unknown, it appears to html:p Pachyonychia congenita is a condition that primarily affects the nails and skin. ad autosomal dominant KRT6A https://ghr.nlm.nih.gov/gene/KRT6A congenital pachyonychia db key 2015-12 2017-12-29
先天性厚甲症 be rare. There are probably several thousand people worldwide with this The signs and symptoms of this condition usually become apparent within the related-gene gene-symbol ghr-page Jackson-Lawler syndrome (PC-2) GTR C0265334
disorder. first few months of life. KRT6B https://ghr.nlm.nih.gov/gene/KRT6B Jadassohn-Lewandowski syndrome (PC-1) db key
html:p Almost everyone with pachyonychia congenita has hypertrophic nail dystrophy, related-gene gene-symbol ghr-page pachyonychia congenita syndrome GTR C1706595
which causes the fingernails and toenails to become thick and abnormally shaped. KRT6C https://ghr.nlm.nih.gov/gene/KRT6C db key
Many affected children also develop very painful blisters and calluses on the related-gene gene-symbol ghr-page GTR C1721007
soles of the feet and, less commonly, on the palms of the hands. This condition KRT16 https://ghr.nlm.nih.gov/gene/KRT16 db key
is known as palmoplantar keratoderma. Severe blisters and calluses on the feet related-gene gene-symbol ghr-page GTR C3714949
can make it painful or impossible to walk. KRT17 https://ghr.nlm.nih.gov/gene/KRT17 db key
html:p Pachyonychia congenita can have several additional features, which vary among GeneReviews pc
affected individuals. These features include thick, white patches on the tongue db key
and inside of the cheeks (oral leukokeratosis); bumps called follicular MeSH D053549
keratoses that develop around hair follicles on the elbows, knees, and db key
waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating OMIM 167200
on the palms and soles (palmoplantar hyperhidrosis). Some affected individuals db key
also develop widespread cysts called steatocystomas, which are filled with an OMIM 167210
oily substance called sebum that normally lubricates the skin and hair. Some db key
babies with pachyonychia congenita have prenatal or natal teeth, which are teeth OMIM 615726
that are present at birth or in early infancy. Rarely, pachyonychia congenita db key
can affect the voice box (larynx), potentially leading to hoarseness or OMIM 615728
breathing problems. db key
html:p Researchers used to split pachyonychia congenita into two types, PC-1 and PC-2, Orphanet 2309
based on the genetic cause and pattern of signs and symptoms. However, as more db key
affected individuals were identified, it became clear that the features of the SNOMED CT 39427000
two types overlapped considerably. Now researchers prefer to describe
pachyonychia congenita based on the gene that is altered.
related-gene-list
Paget disease of bone https://ghr.nlm.nih.gov/condition/paget-disease-of-bone Classic Paget disease of bone occurs in approximately 1 percent of people html:p Paget disease of bone is a disorder that causes bones to grow larger and weaker ad autosomal dominant SQSTM1 https://ghr.nlm.nih.gov/gene/SQSTM1 osseous Paget's disease db key 2015-09 2017-12-29
佩吉特氏病 older than 40 in the United States. Scientists estimate that about 1 million than normal. Affected bones may be misshapen and easily broken (fractured). related-gene gene-symbol ghr-page osteitis deformans GTR C0029401
people in this country have the disease. It is most common in people of western html:p The classic form of Paget disease of bone typically appears in middle age or TNFRSF11A https://ghr.nlm.nih.gov/gene/TNFRSF11A Paget disease, bone db key
European heritage.Early-onset Paget disease of bone is much rarer. This form of later. It usually occurs in one or a few bones and does not spread from one bone related-gene gene-symbol ghr-page Paget's disease of bone GTR C0268414
the disorder has been reported in only a few families. to another. Any bones can be affected, although the disease most commonly TNFRSF11B https://ghr.nlm.nih.gov/gene/TNFRSF11B PDB db key
affects bones in the spine, pelvis, skull, or legs. GTR C1853473
html:p Many people with classic Paget disease of bone do not experience any symptoms db key
associated with their bone abnormalities. The disease is often diagnosed GTR C4016837
unexpectedly by x-rays or laboratory tests done for other reasons. People who db key
develop symptoms are most likely to experience pain. The affected bones may GTR C4085250
themselves be painful, or pain may be caused by arthritis in nearby joints. db key
Arthritis results when the distortion of bones, particularly weight-bearing GTR C4085252
bones in the legs, causes extra wear and tear on the joints. Arthritis most db key
frequently affects the knees and hips in people with this disease. ICD-10-CM M88
html:p Other complications of Paget disease of bone depend on which bones are affected. db key
If the disease occurs in bones of the skull, it can cause an enlarged head, ICD-10-CM M88.0
hearing loss, headaches, and dizziness. If the disease affects bones in the db key
spine, it can lead to numbness and tingling (due to pinched nerves) and abnormal ICD-10-CM M88.1
spinal curvature. In the leg bones, the disease can cause bowed legs and db key
difficulty walking. ICD-10-CM M88.8
html:p A rare type of bone cancer called osteosarcoma has been associated with Paget db key
disease of bone. This type of cancer probably occurs in less than 1 in 1,000 ICD-10-CM M88.9
people with this disease. db key
html:p Early-onset Paget disease of bone is a less common form of the disease that ICD-10-CM M88.81
appears in a person's teens or twenties. Its features are similar to those of db key
the classic form of the disease, although it is more likely to affect the skull, ICD-10-CM M88.82
spine, and ribs (the axial skeleton) and the small bones of the hands. The db key
early-onset form of the disorder is also associated with hearing loss early in ICD-10-CM M88.83
life. db key
ICD-10-CM M88.84
db key
ICD-10-CM M88.85
db key
ICD-10-CM M88.86
db key
ICD-10-CM M88.87
db key
ICD-10-CM M88.88
db key
ICD-10-CM M88.89
db key
ICD-10-CM M88.811
db key
ICD-10-CM M88.812
db key
ICD-10-CM M88.819
db key
ICD-10-CM M88.821
db key
ICD-10-CM M88.822
db key
ICD-10-CM M88.829
db key
ICD-10-CM M88.831
db key
ICD-10-CM M88.832
db key
ICD-10-CM M88.839
db key
ICD-10-CM M88.841
db key
ICD-10-CM M88.842
db key
ICD-10-CM M88.849
db key
ICD-10-CM M88.851
db key
ICD-10-CM M88.852
db key
ICD-10-CM M88.859
db key
ICD-10-CM M88.861
db key
ICD-10-CM M88.862
db key
ICD-10-CM M88.869
db key
ICD-10-CM M88.871
db key
ICD-10-CM M88.872
db key
ICD-10-CM M88.879
db key
MeSH D010001
db key
OMIM 167250
db key
OMIM 239000
db key
OMIM 602080
db key
OMIM 606263
db key
Orphanet 280110
db key
related-gene-list SNOMED CT 2089002
Pallister-Hall syndrome https://ghr.nlm.nih.gov/condition/pallister-hall-syndrome This condition is very rare; its prevalence is unknown. html:p Pallister-Hall syndrome is a disorder that affects the development of many parts ad autosomal dominant GLI3 https://ghr.nlm.nih.gov/gene/GLI3 Hall-Pallister syndrome db key 2016-11 2017-12-29
Pallister-Hall 綜合症 of the body. Most people with this condition have extra fingers and/or toes PHS GTR C0265220
(polydactyly), and the skin between some fingers or toes may be fused (cutaneous db key
syndactyly). An abnormal growth in the brain called a hypothalamic (下丘脑) hamartoma is GeneReviews phs
characteristic of this disorder. In many cases, these growths do not cause any db key
health problems; however, some hypothalamic hamartomas lead to seizures or MeSH D054975
hormone abnormalities that can be life-threatening in infancy. Other features of db key
Pallister-Hall syndrome include a malformation of the airway called a bifid OMIM 146510
epiglottis, an obstruction of the anal opening (imperforate anus), and kidney db key
abnormalities. Although the signs and symptoms of this disorder vary from mild Orphanet 672
to severe, only a small percentage of affected people have serious db key
complications. SNOMED CT 56677004
related-gene-list
Pallister-Killian mosaic syndrome https://ghr.nlm.nih.gov/condition/pallister-killian-mosaic-syndrome Pallister-Killian mosaic syndrome appears to be a rare condition, although html:p Pallister-Killian mosaic syndrome is a developmental disorder that affects many n not inherited 12 https://ghr.nlm.nih.gov/chromosome/12 isochromosome 12p syndrome db key 2015-06 2017-12-29
its exact prevalence is unknown. This disorder may be underdiagnosed because it parts of the body. This condition is characterized by extremely weak muscle tone Pallister-Killian syndrome GTR C0265449
can be difficult to detect in people with mild signs and symptoms. As a result, (hypotonia) in infancy and early childhood, intellectual disability, PKS db key
most diagnoses are made in children with more severe features of the disorder. distinctive facial features, sparse hair, areas of unusual skin coloring Teschler-Nicola/Killian syndrome MeSH D025063
More than 150 people with Pallister-Killian mosaic syndrome have been reported (pigmentation), and other birth defects. tetrasomy 12p, mosaic db key
in the medical literature. html:p Most babies with Pallister-Killian mosaic syndrome are born with significant OMIM 601803
hypotonia, which can cause difficulty breathing and problems with feeding. db key
Hypotonia also interferes with the normal development of motor skills such as Orphanet 884
sitting, standing, and walking. About 30 percent of affected individuals are db key
ultimately able to walk without assistance. Additional developmental delays SNOMED CT 9527009
result from intellectual disability, which is usually severe to profound. Speech
is often limited or absent in people with this condition.
html:p Pallister-Killian mosaic syndrome is associated with a distinctive facial
appearance that is often described as "coarse." Characteristic facial features
include a high, rounded forehead; a broad nasal bridge; a short nose; widely
spaced eyes; low-set ears; rounded cheeks; and a wide mouth with a thin upper
lip and a large tongue. Some affected children are born with an opening in the
roof of the mouth (cleft palate) or a high arched palate.
html:p Most children with Pallister-Killian mosaic syndrome have sparse hair on their
heads, particularly around the temples. These areas may fill in as affected
children get older. Many affected individuals also have streaks or patches of
skin that are darker or lighter than the surrounding skin. These skin changes
can occur anywhere on the body, and they may be apparent at birth or occur later
in life.
html:p Additional features of Pallister-Killian mosaic syndrome can include hearing
loss, vision impairment, seizures, extra nipples, genital abnormalities, and
heart defects. Affected individuals may also have skeletal abnormalities such as
extra fingers and/or toes, large big toes (halluces), and unusually short arms
and legs. About 40 percent of affected infants are born with a congenital
diaphragmatic hernia, which is a hole in the muscle that separates the abdomen
from the chest cavity (the diaphragm). This potentially serious birth defect
allows the stomach and intestines to move into the chest, where they can crowd
the developing heart and lungs.
html:p The signs and symptoms of Pallister-Killian mosaic syndrome vary, although most
people with this disorder have severe to profound intellectual disability and
other serious health problems. The most severe cases involve birth defects that
are life-threatening in early infancy. However, several affected people have had
milder features, including mild intellectual disability and less noticeable
physical abnormalities.
related-gene-list
Palmoplantar keratoderma with deafness https://ghr.nlm.nih.gov/condition/palmoplantar-keratoderma-with-deafness Palmoplantar keratoderma with deafness is a rare disorder; its prevalence html:p Palmoplantar keratoderma with deafness is a disorder characterized by skin ad autosomal dominant GJB2 https://ghr.nlm.nih.gov/gene/GJB2 palmoplantar hyperkeratosis-deafness syndrome db key 2012-11 2017-12-29
is unknown. At least 10 affected families have been identified. abnormalities and hearing loss. Affected individuals develop unusually thick code memo related-gene gene-symbol ghr-page palmoplantar hyperkeratosis-hearing loss syndrome GTR C1835672
skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) m mitochondrial MT-TS1 https://ghr.nlm.nih.gov/gene/MT-TS1 palmoplantar keratoderma-deafness syndrome db key
beginning in childhood. Hearing loss ranges from mild to profound. It begins in palmoplantar keratoderma-hearing loss syndrome MeSH D007645
early childhood and gets worse over time. Affected individuals have particular PPK-deafness syndrome db key
trouble hearing high-pitched sounds. PPK with deafness OMIM 148350
html:p The signs and symptoms of this disorder may vary even within the same family, db key
with some individuals developing only skin abnormalities and others developing Orphanet 2202
only hearing loss. db key
related-gene-list SNOMED CT 722203001
Pantothenate kinase-associated neurodegeneration https://ghr.nlm.nih.gov/condition/pantothenate-kinase-associated-neurodegenerati The precise incidence of this condition is unknown. It is estimated to html:p Pantothenate kinase-associated neurodegeneration (formerly called ar autosomal recessive PANK2 https://ghr.nlm.nih.gov/gene/PANK2 NBIA1 db key 2015-01 2017-12-29
Pantothenate kinase associated neurodegeneration on affect 1 to 3 per million people worldwide. Hallervorden-Spatz syndrome) is a disorder of the nervous system. This neurodegeneration with brain iron accumulation type 1 GTR C1846582
泛酸鹽激活酵素關聯之神經退化性疾病 condition is characterized by progressive difficulty with movement, typically PKAN db key
Hallervorden-Spatz syndrome beginning in childhood. Movement abnormalities include involuntary muscle GTR CN043643
spasms, rigidity, and trouble with walking that worsens over time. Many people db key
with this condition also develop problems with speech (dysarthria), and some GeneReviews pkan
develop vision loss. Additionally, affected individuals may experience a loss db key
of intellectual function (dementia) and psychiatric symptoms such as behavioral ICD-10-CM G23.0
problems, personality changes, and depression. db key
html:p Pantothenate kinase-associated neurodegeneration is characterized by an abnormal MeSH D006211
buildup of iron in certain areas of the brain. A particular change called the db key
eye-of-the-tiger sign, which indicates an accumulation of iron, is typically OMIM 234200
seen on magnetic resonance imaging (MRI) scans of the brain in people with this db key
disorder. OMIM 607236
html:p Researchers have described classic and atypical forms of pantothenate db key
kinase-associated neurodegeneration. The classic form usually appears in early Orphanet 385
childhood, causing severe problems with movement that worsen rapidly. Features db key
of the atypical form appear later in childhood or adolescence and progress more SNOMED CT 2992000
slowly. Signs and symptoms vary, but the atypical form is more likely than the
classic form to involve speech defects and psychiatric problems.
html:p A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis
pigmentosa, and pallidal degeneration), which was historically described as a
separate syndrome, is now considered part of pantothenate kinase-associated
neurodegeneration. Although HARP is much rarer than classic pantothenate
kinase-associated neurodegeneration, both conditions involve problems with
movement, dementia, and vision abnormalities.
PAPA Syndrome
PAPA 症候群
related-gene-list
Paramyotonia congenita https://ghr.nlm.nih.gov/condition/paramyotonia-congenita Paramyotonia congenita is an uncommon disorder; it is estimated to affect html:p Paramyotonia congenita is a disorder that affects muscles used for movement ad autosomal dominant SCN4A https://ghr.nlm.nih.gov/gene/SCN4A Eulenburg disease db key 2015-08 2017-12-29
先天性副肌強直 fewer than 1 in 100,000 people. (skeletal muscles). Beginning in infancy or early childhood, people with this paralysis periodica paramyotonia GTR C1868617
condition experience bouts of sustained muscle tensing (myotonia) that prevent paramyotonia congenita of von Eulenburg db key
muscles from relaxing normally. Myotonia causes muscle stiffness that typically PMC MeSH D020967
appears after exercise and can be induced by muscle cooling. This stiffness Von Eulenberg's disease db key
chiefly affects muscles in the face, neck, arms, and hands, although it can also OMIM 168300
affect muscles used for breathing and muscles in the lower body. Unlike many db key
other forms of myotonia, the muscle stiffness associated with paramyotonia Orphanet 684
congenita tends to worsen with repeated movements. db key
html:p Most people—even those without muscle disease—feel that their muscles do not SNOMED CT 41574007
work as well when they are cold. This effect is dramatic in people with
paramyotonia congenita. Exposure to cold initially causes muscle stiffness in
these individuals, and prolonged cold exposure leads to temporary episodes of
mild to severe muscle weakness that may last for several hours at a time. Some
older people with paramyotonia congenita develop permanent muscle weakness that
can be disabling.
related-gene-list
Parathyroid cancer https://ghr.nlm.nih.gov/condition/parathyroid-cancer Parathyroid cancer is one of the rarest types of cancer. It accounts for html:p Parathyroid cancer is a rare cancer that usually affects people in their forties ad autosomal dominant CDC73 https://ghr.nlm.nih.gov/gene/CDC73 cancer of the parathyroid db key 2017-09 2017-12-29
甲狀旁腺癌 0.005 percent of all cancers, with about 1,000 cases reported in the medical or fifties and occurs in one of the four parathyroid glands. The parathyroid code memo cancer of the parathyroid gland GTR C0687150
literature. glands are located in the neck and secrete parathyroid hormone, which enhances n not inherited carcinoma of parathyroid gland db key
the release of calcium into the blood. malignant neoplasm of parathyroid GeneReviews hrpt2
html:p In about 90 percent of cases, the early signs of parathyroid cancer are high malignant neoplasm of parathyroid gland db key
levels of parathyroid hormone (hyperparathyroidism) and calcium (hypercalcemia) malignant parathyroid gland neoplasm ICD-10-CM C75.0
in the blood. In these cases, the cancer is described as hormonally functional malignant parathyroid gland tumor db key
because the parathyroid glands are producing excess hormone. malignant parathyroid neoplasm MeSH D010282
html:p Many individuals with hormonally functional parathyroid cancer develop malignant parathyroid tumor db key
hypercalcemic crisis, in which calcium levels in the blood are very high. malignant tumor of parathyroid OMIM 608266
Neurological problems can develop, including changes in mood and depression. malignant tumor of parathyroid gland db key
About 30 percent of individuals with hypercalcemia due to parathyroid cancer parathyroid adenocarcinoma Orphanet 143
develop kidney and skeletal problems. These problems include increased urine parathyroid carcinoma db key
production (polyuria), deposits of calcium in the kidneys (nephrocalcinosis) parathyroid gland cancer SNOMED CT 363481002
leading to the formation of kidney stones (nephrolithiasis), bone pain, bone parathyroid gland carcinoma
loss, and increased bone fractures. Abdominal pain, inflammation of the pancreas parathyroid neoplasms
(pancreatitis), sores (ulcers) in the lining of the digestive tract, nausea,
vomiting, weight loss, and fatigue are also common.
html:p About 10 percent of cases of parathyroid cancer are described as hormonally
nonfunctional. In these cases, levels of parathyroid hormone and calcium are
normal. The signs and symptoms of hormonally nonfunctional parathyroid cancer
are related to the tumor obstructing nearby structures in the neck. These
problems include difficulty swallowing (dysphagia) and speaking (dysarthria), a
hoarse voice, shortness of breath (dyspnea), or vocal cord paralysis.
html:p Up to 85 percent of individuals with parathyroid survive at least 5 years after
they are diagnosed. The disease recurs in approximately half of individuals. If
cancer does recur, it will commonly be within 3 years of the original diagnosis
and up to 78 percent of people with recurrent cancer survive at least 5 years.
Hormonally nonfunctional parathyroid cancer has a lower survival rate because it
is often found at a later stage, as it does not have early signs such as
increased calcium and parathyroid hormone levels.
html:p In hormonally functional parathyroid cancer, death is usually caused by organ
failure (usually kidney failure) due to prolonged hypercalcemia and not directly
due to the tumor. In hormonally nonfunctional parathyroid cancer, the cause of
death is typically related to the tumor itself, such as its impact on the
function of nearby structures or its spread to other tissues (metastasis).
related-gene-list
Parkes Weber syndrome https://ghr.nlm.nih.gov/condition/parkes-weber-syndrome Parkes Weber syndrome is a rare condition; its exact prevalence is unknown. html:p Parkes Weber syndrome is a disorder of the vascular system, which is the body's ad autosomal dominant RASA1 https://ghr.nlm.nih.gov/gene/RASA1 Parkes-Weber syndrome db key 2011-08 2017-12-29
complex network of blood vessels. The vascular system consists of arteries, PKWS GTR CN074207
which carry oxygen-rich blood from the heart to the body's various organs and db key
tissues; veins, which carry blood back to the heart; and capillaries, which are GeneReviews rasa1-rel-dis
tiny blood vessels that connect arteries and veins. db key
html:p Parkes Weber syndrome is characterized by vascular abnormalities known as MeSH D054079
capillary malformations and arteriovenous fistulas (AVFs), which are present db key
from birth. The capillary malformations increase blood flow near the surface of OMIM 608355
the skin. They usually look like large, flat, pink stains on the skin, and db key
because of their color are sometimes called "port-wine stains." In people with Orphanet 90307
Parkes Weber syndrome, capillary malformations occur together with multiple db key
micro-AVFs, which are tiny abnormal connections between arteries and veins that SNOMED CT 234143003
affect blood circulation. These AVFs can be associated with life-threatening
complications including abnormal bleeding and heart failure.
html:p Another characteristic feature of Parkes Weber syndrome is overgrowth of one
limb, most commonly a leg. Abnormal growth occurs in bones and soft tissues,
making one of the limbs longer and larger around than the corresponding one.
html:p Some vascular abnormalities seen in Parkes Weber syndrome are similar to those
that occur in a condition called capillary malformation-arteriovenous
malformation syndrome (CM-AVM). CM-AVM and some cases of Parkes Weber syndrome
have the same genetic cause.
related-gene-list
Parkinson disease https://ghr.nlm.nih.gov/condition/parkinson-disease Parkinson disease affects more than 1 million people in North America and html:p Parkinson disease is a progressive disorder of the nervous system. The disorder ad autosomal dominant ATP13A2 https://ghr.nlm.nih.gov/gene/ATP13A2 Parkinson's disease db key 2012-05 2017-12-29
帕金森氏症 more than 4 million people worldwide. In the United States, Parkinson disease affects several regions of the brain, especially an area called the substantia code memo related-gene gene-symbol ghr-page PD GTR C1838867
occurs in approximately 13 per 100,000 people, and about 60,000 new cases are nigra that controls balance and movement. ar autosomal recessive GBA https://ghr.nlm.nih.gov/gene/GBA primary parkinsonism db key
identified each year.The late-onset form is the most common type of Parkinson html:p Often the first symptom of Parkinson disease is trembling or shaking (tremor) of related-gene gene-symbol ghr-page GTR C1843211
disease, and the risk of developing this condition increases with age. Because a limb, especially when the body is at rest. Typically, the tremor begins on LRRK2 https://ghr.nlm.nih.gov/gene/LRRK2 db key
more people are living longer, the number of people with this disease is one side of the body, usually in one hand. Tremors can also affect the arms, related-gene gene-symbol ghr-page GTR C1845165
expected to increase in coming decades. legs, feet, and face. Other characteristic symptoms of Parkinson disease include PARK7 https://ghr.nlm.nih.gov/gene/PARK7 db key
rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or related-gene gene-symbol ghr-page GTR C1846862
an inability to move (akinesia), and impaired balance and coordination (postural PINK1 https://ghr.nlm.nih.gov/gene/PINK1 db key
instability). These symptoms worsen slowly over time. related-gene gene-symbol ghr-page GTR C1847360
html:p Parkinson disease can also affect emotions and thinking ability (cognition). PRKN https://ghr.nlm.nih.gov/gene/PRKN db key
Some affected individuals develop psychiatric conditions such as depression and related-gene gene-symbol ghr-page GTR C1850100
visual hallucinations. People with Parkinson disease also have an increased risk SNCA https://ghr.nlm.nih.gov/gene/SNCA db key
of developing dementia, which is a decline in intellectual functions including related-gene gene-symbol ghr-page GTR C1853202
judgment and memory. UCHL1 https://ghr.nlm.nih.gov/gene/UCHL1 db key
html:p Generally, Parkinson disease that begins after age 50 is called late-onset related-gene gene-symbol ghr-page GTR C1853445
disease. The condition is described as early-onset disease if signs and symptoms VPS35 https://ghr.nlm.nih.gov/gene/VPS35 db key
begin before age 50. Early-onset cases that begin before age 20 are sometimes GTR C1853833
referred to as juvenile-onset Parkinson disease. db key
GTR C1854182
db key
GTR C1865581
db key
GTR C1868595
db key
GTR C1868675
db key
GTR C2751012
db key
GTR C2751842
db key
GTR C3150899
db key
GTR C3160718
db key
GTR C3280133
db key
GTR C3280271
db key
GeneReviews jpd
db key
GeneReviews lrrk2
db key
GeneReviews parkinson-overview
db key
GeneReviews pink1-pd
db key
GeneReviews vps35-pd
db key
ICD-10-CM G20
db key
MeSH D010300
db key
OMIM 168600
db key
OMIM 168601
db key
OMIM 260300
db key
OMIM 300557
db key
OMIM 556500
db key
OMIM 600116
db key
OMIM 602404
db key
OMIM 605543
db key
OMIM 605909
db key
OMIM 606324
db key
OMIM 606852
db key
OMIM 607060
db key
OMIM 607688
db key
OMIM 610297
db key
OMIM 612953
db key
OMIM 613164
db key
OMIM 613643
db key
OMIM 614203
db key
OMIM 614251
db key
Orphanet 2828
db key
related-gene-list SNOMED CT 49049000
Paroxysmal extreme pain disorder https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder Paroxysmal extreme pain disorder is a rare condition; approximately 80 html:p Paroxysmal extreme pain disorder is a condition characterized by skin redness ad autosomal dominant SCN9A https://ghr.nlm.nih.gov/gene/SCN9A familial rectal pain db key 2012-11 2017-12-29
陣發性極度疼痛症 affected individuals have been described in the scientific literature. and warmth (flushing) and attacks of severe pain in various parts of the body. PEPD GTR C1833661
The area of flushing typically corresponds to the site of the pain. The pain PEXPD db key
attacks experienced by people with paroxysmal extreme pain disorder usually last submandibular, ocular, and rectal pain with flushing MeSH D010148
seconds to minutes, but in some cases can last hours. These attacks can start db key
as early as infancy. Early in life, the pain is typically concentrated in the OMIM 167400
lower part of the body, especially around the rectum, and is usually triggered db key
by a bowel movement. Some children may develop constipation, which is thought to Orphanet 46348
be due to fear of triggering a pain attack. Pain attacks in these young db key
children may also be accompanied by seizures, slow heartbeat, or short pauses in SNOMED CT 699190008
breathing (apnea).
html:p As a person with paroxysmal extreme pain disorder ages, the location of pain
changes. Pain attacks switch from affecting the lower body to affecting the head
and face, especially the eyes and jaw. Triggers of these pain attacks include
changes in temperature (such as a cold wind) and emotional distress as well as
eating spicy foods and drinking cold drinks.
html:p Paroxysmal extreme pain disorder is considered a form of peripheral neuropathy
because it affects the peripheral nervous system, which connects the brain and
spinal cord to muscles and to cells that detect sensations such as touch, smell,
and pain.
related-gene-list
Paroxysmal nocturnal hemoglobinuria, PNH https://ghr.nlm.nih.gov/condition/paroxysmal-nocturnal-hemoglobinuria Paroxysmal nocturnal hemoglobinuria is a rare disorder, estimated to affect html:p Paroxysmal nocturnal hemoglobinuria is an acquired disorder that leads to the xd X-linked dominant PIGA https://ghr.nlm.nih.gov/gene/PIGA Hemoglobinuria, Paroxysmal db key 2007-05 2017-12-29
陣發性夜間血紅素尿症 between 1 and 5 per million people. premature death and impaired production of blood cells. The disorder affects red Marchiafava-Micheli Syndrome GTR C0024790
blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), db key
which protect the body from infection; and platelets (thrombocytes), which are ICD-10-CM D59.5
involved in blood clotting. Paroxysmal nocturnal hemoglobinuria affects both db key
sexes equally, and can occur at any age, although it is most often diagnosed in MeSH D006457
young adulthood. db key
html:p People with paroxysmal nocturnal hemoglobinuria have sudden, recurring episodes OMIM 311770
of symptoms (paroxysmal symptoms), which may be triggered by stresses on the db key
body, such as infections or physical exertion. During these episodes, red blood SNOMED CT 1963002
cells are prematurely destroyed (hemolysis). Affected individuals may pass
dark-colored urine due to the presence of hemoglobin, the oxygen-carrying
protein in blood. The abnormal presence of hemoglobin in the urine is called
hemoglobinuria. In many, but not all cases, hemoglobinuria is most noticeable in
the morning, upon passing urine that has accumulated in the bladder during the
night (nocturnal).
html:p The premature destruction of red blood cells results in a deficiency of these
cells in the blood (hemolytic anemia), which can cause signs and symptoms such
as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an
increased heart rate. People with paroxysmal nocturnal hemoglobinuria may also
be prone to infections due to a deficiency of white blood cells.
html:p Abnormal platelets associated with paroxysmal nocturnal hemoglobinuria can cause
problems in the blood clotting process. As a result, people with this disorder
may experience abnormal blood clotting (thrombosis), especially in large
abdominal veins; or, less often, episodes of severe bleeding (hemorrhage).
html:p Individuals with paroxysmal nocturnal hemoglobinuria are at increased risk of
developing cancer in blood-forming cells (leukemia).
html:p In some cases, people who have been treated for another blood disease called
aplastic anemia may develop paroxysmal nocturnal hemoglobinuria.
related-gene-list
Partington syndrome https://ghr.nlm.nih.gov/condition/partington-syndrome The prevalence of Partington syndrome is unknown. At least 20 cases have html:p Partington syndrome is a neurological disorder that causes intellectual xr X-linked recessive ARX https://ghr.nlm.nih.gov/gene/ARX MRX36 db key 2017-08 2017-12-29
帕廷頓綜合症 been described in the medical literature. disability along with a condition called focal dystonia that particularly Partington-Mulley syndrome GTR C0796250
affects movement of the hands. Partington syndrome usually occurs in males; when Partington X-linked mental retardation syndrome db key
it occurs in females, the signs and symptoms are often less severe. PRTS MeSH D038901
html:p The intellectual disability associated with Partington syndrome usually ranges X-linked intellectual deficit-dystonia-dysarthria db key
from mild to moderate. Some affected individuals have characteristics of autism X-linked mental retardation with dystonic movements, ataxia, and seizures OMIM 309510
spectrum disorders that affect communication and social interaction. Recurrent db key
seizures (epilepsy) may also occur in Partington syndrome. Orphanet 94083
html:p Focal dystonia of the hands is a feature that distinguishes Partington syndrome db key
from other intellectual disability syndromes. Dystonias are a group of movement SNOMED CT 702412005
problems characterized by involuntary, sustained muscle contractions; tremors;
and other uncontrolled movements. The term "focal" refers to a type of dystonia
that affects a single part of the body, in this case the hands. In Partington
syndrome, focal dystonia of the hands, which is called the Partington sign,
begins in early childhood and gradually gets worse. This condition typically
causes difficulty with grasping movements or using a pen or pencil.
html:p People with Partington syndrome may also have dystonia affecting other parts of
the body; dystonia affecting the muscles in the face and those involved in
speech may cause impaired speech (dysarthria). People with this disorder may
also have an awkward way of walking (gait). Signs and symptoms can vary widely,
even within the same family.
PAX6-Related Anophthalmia
先天性無虹膜症
inheritance-pattern-list related-gene-list
PDGFRA-associated chronic eosinophilic leukemia https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemi PDGFRA-associated chronic eosinophilic leukemia is a rare condition; html:p html:i n not inherited ghr-page PDGFRA-associated myeloproliferative neoplasm db-key db key 2015-09 2017-12-29
(Cancer) a however, the exact prevalence is unknown. PDGFRA related-gene https://ghr.nlm.nih.gov/gene/FIP1L1 GTR C0206141
(Blood) ghr-page db-key db key
related-chromosome https://ghr.nlm.nih.gov/gene/PDGFRA MeSH D017681
-associated chronic eosinophilic leukemia. ghr-page db-key db key
https://ghr.nlm.nih.gov/chromosome/4 OMIM 607685
html:p html:i db-key db key
PDGFRA Orphanet 168956
db-key db key
SNOMED CT 128835008
db-key db key
SNOMED CT 188733003
-associated chronic eosinophilic leukemia can also have an enlarged spleen
(splenomegaly) and elevated levels of certain chemicals called vitamin B12 and
tryptase in the blood.
html:p html:i
PDGFRA
-associated chronic eosinophilic leukemia develop other blood cell cancers, such
as acute myeloid leukemia or B-cell or T-cell acute lymphoblastic leukemia or
lymphoblastic lymphoma.
html:p html:i
PDGFRA
inheritance-pattern-list related-gene-list
PDGFRB-associated chronic eosinophilic leukemia https://ghr.nlm.nih.gov/condition/pdgfrb-associated-chronic-eosinophilic-leukemi The exact prevalence of PDGFRB-associated chronic eosinophilic leukemia is html:p html:i u pattern unknown ghr-page atypical Philadelphia-negative chronic myeloid leukemia db-key db key 2013-02 2017-12-29
a unknown. For unknown reasons, males are up to nine times more likely than PDGFRB related-gene https://ghr.nlm.nih.gov/gene/ETV6 chronic myelomonocytic leukemia GTR C1851585
females to develop PDGFRB-associated chronic eosinophilic leukemia. ghr-page chronic myeloproliferative disorder with eosinophilia db-key db key
related-chromosome https://ghr.nlm.nih.gov/gene/PDGFRB clonal eosinophilia with chronic myeloproliferative disorder MeSH D017681
ghr-page primary eosinophilia with chronic myeloproliferative disorder db-key db key
-associated chronic eosinophilic leukemia. Some people with this condition have related-chromosome https://ghr.nlm.nih.gov/chromosome/5 Orphanet 168950
an increased number of other types of white blood cells, such as neutrophils or ghr-page db-key db key
mast cells, in addition to eosinophils. People with this condition can have an https://ghr.nlm.nih.gov/chromosome/12 SNOMED CT 128835008
enlarged spleen (splenomegaly) or enlarged liver (hepatomegaly). Some affected db-key db key
individuals develop skin rashes, likely as a result of an abnormal immune SNOMED CT 188733003
response due to the increased number of eosinophils. db-key db key
SNOMED CT 190055003
db-key db key
related-gene-list SNOMED CT 413836008
Pearson marrow-pancreas syndrome https://ghr.nlm.nih.gov/condition/pearson-marrow-pancreas-syndrome Pearson marrow-pancreas syndrome is a rare condition; its prevalence is html:p Pearson marrow-pancreas syndrome is a severe disorder that usually begins in n not inherited mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna Pearson syndrome db key 2013-05 2017-12-29
皮爾遜骨髓胰腺綜合徵 unknown. infancy. It causes problems with the development of blood-forming GTR C0342773
(hematopoietic) cells in the bone marrow that have the potential to develop into db key
different types of blood cells. For this reason, Pearson marrow-pancreas GeneReviews kss
syndrome is considered a bone marrow failure disorder. Function of the pancreas db key
and other organs can also be affected. MeSH D028361
html:p Most affected individuals have a shortage of red blood cells (anemia), which can db key
cause pale skin (pallor), weakness, and fatigue. Some of these individuals also OMIM 557000
have low numbers of white blood cells (neutropenia) and platelets db key
(thrombocytopenia). Neutropenia can lead to frequent infections; Orphanet 699
thrombocytopenia sometimes causes easy bruising and bleeding. When visualized db key
under the microscope, bone marrow cells from affected individuals may appear SNOMED CT 237985009
abnormal. Often, early blood cells (hematopoietic precursors) have multiple
fluid-filled pockets called vacuoles. In addition, red blood cells in the bone
marrow can have an abnormal buildup of iron that appears as a ring of blue
staining in the cell after treatment with certain dyes. These abnormal cells are
called ring sideroblasts.
html:p In people with Pearson marrow-pancreas syndrome, the pancreas does not work as
well as usual. The pancreas produces and releases enzymes that aid in the
digestion of fats and proteins. Reduced function of this organ can lead to high
levels of fats in the liver (liver steatosis). The pancreas also releases
insulin, which helps maintain correct blood sugar levels. A small number of
individuals with Pearson marrow-pancreas syndrome develop diabetes, a condition
characterized by abnormally high blood sugar levels that can be caused by a
shortage of insulin. In addition, affected individuals may have scarring
(fibrosis) in the pancreas.
html:p People with Pearson marrow-pancreas syndrome have a reduced ability to absorb
nutrients from the diet (malabsorption), and most affected infants have an
inability to grow and gain weight at the expected rate (failure to thrive).
Another common occurrence in people with this condition is buildup in the body
of a chemical called lactic acid (lactic acidosis), which can be
life-threatening. In addition, liver and kidney problems can develop in people
with this condition.
html:p About half of children with this severe disorder die in infancy or early
childhood due to severe lactic acidosis or liver failure. Many of those who
survive develop signs and symptoms later in life of a related disorder called
Kearns-Sayre syndrome. This condition causes weakness of muscles around the eyes
and other problems.
related-gene-list
Pelizaeus-Merzbacher disease https://ghr.nlm.nih.gov/condition/pelizaeus-merzbacher-disease The prevalence of Pelizaeus-Merzbacher disease is estimated to be 1 in html:p Pelizaeus-Merzbacher disease is an inherited condition involving the brain and xr X-linked recessive PLP1 https://ghr.nlm.nih.gov/gene/PLP1 Cockayne-Pelizaeus-Merzbacher Disease db key 2008-03 2017-12-29
慢性兒童型腦硬化症 200,000 to 500,000 males in the United States. This condition rarely affects spinal cord (central nervous system). This disease is one of a group of genetic PMD GTR C0205711
慢性兒童型硬化症 females. disorders called leukodystrophies. Leukodystrophies are characterized by sclerosis; brain, Pelizaeus-Merzbacher db key
degeneration of myelin, which is the covering that protects nerves and promotes GeneReviews pmd
the efficient transmission of nerve impulses. Pelizaeus-Merzbacher disease is db key
caused by an inability to form myelin (dysmyelination). As a result, MeSH D020371
individuals with this condition have impaired intellectual functions, such as db key
language and memory, and delayed motor skills, such as coordination and walking. OMIM 312080
Typically, motor skills are more severely affected than intellectual db key
function; motor skills development tends to occur more slowly and usually stops Orphanet 702
in a person's teens, followed by gradual deterioration. db key
html:p Pelizaeus-Merzbacher disease is divided into classic and connatal types. SNOMED CT 64855000
Although these two types differ in severity, their features can overlap.
html:p Classic Pelizaeus-Merzbacher disease is the more common type. Within the first
year of life, those affected with classic Pelizaeus-Merzbacher disease typically
experience weak muscle tone (hypotonia), involuntary movements of the eyes
(nystagmus), and delayed development of motor skills such as crawling or
walking. As the child gets older, nystagmus usually stops but other movement
disorders develop, including muscle stiffness (spasticity), problems with
movement and balance (ataxia), and involuntary jerking (choreiform movements).
html:p Connatal Pelizaeus-Merzbacher disease is the more severe of the two types.
Symptoms can begin in infancy and include problems feeding, a whistling sound
when breathing, progressive spasticity leading to joint deformities
(contractures) that restrict movement, speech difficulties (dysarthria), ataxia,
and seizures. Those affected with connatal Pelizaeus-Merzbacher disease show
little development of motor skills and intellectual function.
Pena-Shokeir syndrome
Pena-Shokeir綜合徵
related-gene-list
Pendred syndrome https://ghr.nlm.nih.gov/condition/pendred-syndrome The prevalence of Pendred syndrome is unknown. However, researchers html:p Pendred syndrome is a disorder typically associated with hearing loss and a ar autosomal recessive SLC26A4 https://ghr.nlm.nih.gov/gene/SLC26A4 autosomal recessive sensorineural hearing impairment, enlarged vestibular db key 2016-03 2017-12-29
Pena-Shokeir綜合徵 estimate that it accounts for 7 to 8 percent of all hearing loss that is present thyroid condition called a goiter. A goiter is an enlargement of the thyroid aqueduct, and goiter GTR C0271829
from birth (congenital hearing loss). gland, which is a butterfly-shaped organ at the base of the neck that produces deafness with goiter db key
hormones. If a goiter develops in a person with Pendred syndrome, it usually goiter-deafness syndrome GeneReviews pendred
forms between late childhood and early adulthood. In most cases, this Pendred's syndrome db key
enlargement does not cause the thyroid to malfunction. ICD-10-CM E07.1
html:p In most people with Pendred syndrome, severe to profound hearing loss caused by db key
changes in the inner ear (sensorineural hearing loss) is evident at birth. Less MeSH D006044
commonly, hearing loss does not develop until later in infancy or early db key
childhood. Some affected individuals also have problems with balance caused by MeSH D006319
dysfunction of the vestibular system, which is the part of the inner ear that db key
helps maintain the body's balance and orientation. OMIM 274600
html:p An inner ear abnormality called an enlarged vestibular aqueduct (EVA) is a db key
characteristic feature of Pendred syndrome. The vestibular aqueduct is a bony Orphanet 705
canal that connects the inner ear with the inside of the skull. Some affected db key
individuals also have an abnormally shaped cochlea, which is a snail-shaped SNOMED CT 70348004
structure in the inner ear that helps process sound. The combination of an
enlarged vestibular aqueduct and an abnormally shaped cochlea is known as
Mondini malformation.
html:p Pendred syndrome shares features with other hearing loss and thyroid conditions,
and it is unclear whether they are best considered as separate disorders or as
a spectrum of related signs and symptoms. These conditions include a form of
nonsyndromic hearing loss (hearing loss that does not affect other parts of the
body) called DFNB4, and, in a small number of people, a form of congenital
hypothyroidism resulting from an abnormally small thyroid gland (thyroid
hypoplasia). All of these conditions are caused by mutations in the same gene.
related-gene-list
Periventricular heterotopia https://ghr.nlm.nih.gov/condition/periventricular-heterotopia Periventricular heterotopia is a rare condition. Its incidence is unknown. html:p Periventricular heterotopia is a condition in which nerve cells (neurons) do not ar autosomal recessive ARFGEF2 https://ghr.nlm.nih.gov/gene/ARFGEF2 familial nodular heterotopia db key 2007-11 2017-12-29
腦室周圍異位 migrate properly during the early development of the fetal brain, from about code memo related-gene gene-symbol ghr-page periventricular nodular heterotopia GTR C2678104
the 6th week to the 24th week of pregnancy. Heterotopia means "out of place." In xd X-linked dominant FLNA https://ghr.nlm.nih.gov/gene/FLNA db key
normal brain development, neurons form in the periventricular region, located related-chromosome name ghr-page GeneReviews x-pvh
around fluid-filled cavities (ventricles) near the center of the brain. The 5 https://ghr.nlm.nih.gov/chromosome/5 db key
neurons then migrate outward to form the exterior of the brain (cerebral cortex) MeSH D054091
in six onion-like layers. In periventricular heterotopia, some neurons fail to db key
migrate to their proper position and form clumps around the ventricles. OMIM 300049
html:p Periventricular heterotopia usually becomes evident when seizures first appear, db key
often during the teenage years. The nodules around the ventricles are then OMIM 608097
typically discovered when magnetic resonance imaging (MRI) studies are done. db key
Affected individuals usually have normal intelligence, although some have mild OMIM 608098
intellectual disability. Difficulty with reading and spelling (dyslexia) has db key
been reported in some people with periventricular heterotopia. Orphanet 98892
html:p Less commonly, individuals with periventricular heterotopia may have more severe db key
brain malformations, small head size (microcephaly), developmental delays, SNOMED CT 253150002
recurrent infections, blood vessel abnormalities, or other problems.
Periventricular heterotopia may also occur in association with other conditions
such as Ehlers-Danlos syndrome, which results in extremely flexible joints, skin
that stretches easily, and fragile blood vessels.
related-gene-list
Permanent neonatal diabetes mellitus https://ghr.nlm.nih.gov/condition/permanent-neonatal-diabetes-mellitus About 1 in 400,000 infants are diagnosed with diabetes mellitus in the html:p Permanent neonatal diabetes mellitus is a type of diabetes that first appears ad autosomal dominant ABCC8 https://ghr.nlm.nih.gov/gene/ABCC8 PNDM db key 2011-07 2017-12-29
永久性新生兒糖尿病 first few months of life. However, in about half of these babies the condition within the first 6 months of life and persists throughout the lifespan. This code memo related-gene gene-symbol ghr-page GTR C1833104
is transient and goes away on its own by age 18 months. The remainder are form of diabetes is characterized by high blood sugar levels (hyperglycemia) ar autosomal recessive GCK https://ghr.nlm.nih.gov/gene/GCK db key
considered to have permanent neonatal diabetes mellitus. resulting from a shortage of the hormone insulin. Insulin controls how much related-gene gene-symbol ghr-page GTR C1850096
glucose (a type of sugar) is passed from the blood into cells for conversion to INS https://ghr.nlm.nih.gov/gene/INS db key
energy. related-gene gene-symbol ghr-page GeneReviews dmn
html:p Individuals with permanent neonatal diabetes mellitus experience slow growth KCNJ11 https://ghr.nlm.nih.gov/gene/KCNJ11 db key
before birth (intrauterine growth retardation). Affected infants have related-gene gene-symbol ghr-page ICD-10-CM P70.2
hyperglycemia and an excessive loss of fluids (dehydration) and are unable to PDX1 https://ghr.nlm.nih.gov/gene/PDX1 db key
gain weight and grow at the expected rate (failure to thrive). MeSH D003920
html:p In some cases, people with permanent neonatal diabetes mellitus also have db key
certain neurological problems, including developmental delay and recurrent OMIM 260370
seizures (epilepsy). This combination of developmental delay, epilepsy, and db key
neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a OMIM 606176
similar combination but with milder developmental delay and without epilepsy. db key
html:p A small number of individuals with permanent neonatal diabetes mellitus have an SNOMED CT 609565001
underdeveloped pancreas. Because the pancreas produces digestive enzymes as well
as secreting insulin and other hormones, affected individuals experience
digestive problems such as fatty stools and an inability to absorb fat-soluble
vitamins.
related-gene-list
Peroxisomal acyl-CoA oxidase deficiency https://ghr.nlm.nih.gov/condition/peroxisomal-acyl-coa-oxidase-deficiency Peroxisomal acyl-CoA oxidase deficiency is a rare disorder. Its prevalence html:p Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration ar autosomal recessive ACOX1 https://ghr.nlm.nih.gov/gene/ACOX1 acyl-coenzyme A oxidase deficiency db key 2014-04 2017-12-29
is unknown. Only a few dozen cases have been described in the medical of nervous system functions (neurodegeneration) beginning in infancy. Newborns pseudo-NALD GTR C1849678
literature. with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) pseudoadrenoleukodystrophy db key
and seizures. They may have unusual facial features, including widely spaced pseudoneonatal adrenoleukodystrophy GeneReviews leukodys-ov
eyes (hypertelorism), a low nasal bridge, and low-set ears. Extra fingers or straight-chain acyl-CoA oxidase deficiency db key
toes (polydactyly) or an enlarged liver (hepatomegaly) also occur in some MeSH D008052
affected individuals. db key
html:p Most babies with peroxisomal acyl-CoA oxidase deficiency learn to walk and begin MeSH D018901
speaking, but they experience a gradual loss of these skills (developmental db key
regression), usually beginning between the ages of 1 and 3. As the condition OMIM 264470
gets worse, affected children develop exaggerated reflexes (hyperreflexia), db key
increased muscle tone (hypertonia), more severe and recurrent seizures Orphanet 2971
(epilepsy), and loss of vision and hearing. Most children with peroxisomal db key
acyl-CoA oxidase deficiency do not survive past early childhood. SNOMED CT 238069004
related-gene-list
Perrault syndrome https://ghr.nlm.nih.gov/condition/perrault-syndrome Perrault syndrome is a rare disorder; fewer than 100 affected individuals html:p Perrault syndrome is a rare condition that causes different patterns of signs ar autosomal recessive CLPP https://ghr.nlm.nih.gov/gene/CLPP gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance db key 2014-12 2017-12-29
佩羅綜合徵 have been described in the medical literature. It is likely that the condition and symptoms in affected males and females. A key feature of this condition is related-gene gene-symbol ghr-page gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance GTR C0685838
is underdiagnosed, because males without an affected sister will likely be hearing loss, which occurs in both males and females. Affected females also have HARS2 https://ghr.nlm.nih.gov/gene/HARS2 gonadal dysgenesis, XX type, with deafness db key
misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault abnormalities of the ovaries. Neurological problems occur in some affected related-gene gene-symbol ghr-page ovarian dysgenesis with sensorineural deafness GTR C3554105
syndrome. males and females. HSD17B4 https://ghr.nlm.nih.gov/gene/HSD17B4 db key
html:p In Perrault syndrome, the problems with hearing are caused by changes in the related-gene gene-symbol ghr-page GTR C3809105
inner ear, which is known as sensorineural hearing loss. The impairment usually LARS2 https://ghr.nlm.nih.gov/gene/LARS2 db key
affects both ears and can be present at birth or begin in early childhood. related-gene gene-symbol ghr-page GTR C4015307
Unless hearing is completely impaired at birth, the hearing problems worsen over TWNK https://ghr.nlm.nih.gov/gene/TWNK db key
time. GeneReviews perrault
html:p Females with Perrault syndrome have abnormal or missing ovaries (ovarian db key
dysgenesis), although their external genitalia are normal. Severely affected MeSH D006319
girls do not begin menstruation by age 16 (primary amenorrhea), and most never db key
have a menstrual period. Less severely affected women have an early loss of MeSH D023961
ovarian function (primary ovarian insufficiency); their menstrual periods begin db key
in adolescence, but they become less frequent and eventually stop before age 40. OMIM 233400
Women with Perrault syndrome may have difficulty conceiving or be unable to db key
have biological children (infertile). OMIM 614129
html:p Neurological problems in individuals with Perrault syndrome can include db key
intellectual disability, difficulty with balance and coordinating movements OMIM 614926
(ataxia), and loss of sensation and weakness in the limbs (peripheral db key
neuropathy). However, not everyone with this condition has neurological OMIM 615300
problems. db key
OMIM 616138
db key
Orphanet 243
db key
Orphanet 2855
db key
related-gene-list SNOMED CT 93466004
Perry syndrome https://ghr.nlm.nih.gov/condition/perry-syndrome Perry syndrome is very rare; about 50 affected individuals have been html:p Perry syndrome is a progressive brain disease that is characterized by four ad autosomal dominant DCTN1 https://ghr.nlm.nih.gov/gene/DCTN1 parkinsonism with alveolar hypoventilation and mental depression db key 2015-09 2017-12-29
佩里綜合症 reported worldwide. major features: a pattern of movement abnormalities known as parkinsonism, GTR C1868594
psychiatric changes, weight loss, and abnormally slow breathing db key
(hypoventilation). These signs and symptoms typically appear in a person's GeneReviews perry
forties or fifties. db key
html:p Parkinsonism and psychiatric changes are usually the earliest features of Perry MeSH D020734
syndrome. Signs of parkinsonism include unusually slow movements (bradykinesia), db key
stiffness, and tremors. These movement abnormalities are often accompanied by OMIM 168605
changes in personality and behavior. The most frequent psychiatric changes that db key
occur in people with Perry syndrome include depression, a general loss of Orphanet 178509
interest and enthusiasm (apathy), withdrawal from friends and family, and db key
suicidal thoughts. Many affected individuals also experience significant, SNOMED CT 699184009
unexplained weight loss early in the disease.
html:p Hypoventilation is a later feature of Perry syndrome. Abnormally slow breathing
most often occurs at night, causing affected individuals to wake up frequently.
As the disease worsens, hypoventilation can result in a life-threatening lack of
oxygen and respiratory failure.
html:p People with Perry syndrome typically survive for about 5 years after signs and
symptoms first appear. Most affected individuals ultimately die of respiratory
failure or pneumonia. Suicide is another cause of death in this condition.
Persistent Hyperinsulinemic Hypoglycemia of Infancy; PHHI
持續性幼兒型胰島素過度分泌低血糖症
related-gene-list
Persistent Müllerian duct syndrome https://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome Persistent Müllerian duct syndrome is a rare disorder; however, the html:p Persistent Müllerian duct syndrome is a disorder of sexual development that ar autosomal recessive AMH https://ghr.nlm.nih.gov/gene/AMH persistent oviduct syndrome db key 2011-03 2017-12-29
持續性Müllerian管綜合症 prevalence of the condition is unknown. affects males. Males with this disorder have normal male reproductive organs, related-gene gene-symbol ghr-page PMDS GTR C1849930
though they also have a uterus and fallopian tubes, which are female AMHR2 https://ghr.nlm.nih.gov/gene/AMHR2 db key
reproductive organs. The uterus and fallopian tubes are derived from a structure MeSH D058490
called the Müllerian duct during development of the fetus. The Müllerian duct db key
usually breaks down during early development in males, but it is retained in OMIM 261550
those with persistent Müllerian duct syndrome. Affected individuals have the db key
normal chromosomes of a male (46,XY) and normal external male genitalia. Orphanet 2856
html:p The first noted signs and symptoms in males with persistent Müllerian duct db key
syndrome are usually undescended testes (cryptorchidism) or soft out-pouchings SNOMED CT 702358005
in the lower abdomen (inguinal hernias). The uterus and fallopian tubes are
typically discovered when surgery is performed to treat these conditions.
html:p The testes and female reproductive organs can be located in unusual positions in
persistent Müllerian duct syndrome. Occasionally, both testes are undescended
(bilateral cryptorchidism) and the uterus is in the pelvis. More often, one
testis has descended into the scrotum normally, and one has not. Sometimes, the
descended testis pulls the fallopian tube and uterus into the track through
which it has descended. This creates a condition called hernia uteri inguinalis,
a form of inguinal hernia. In other cases, the undescended testis from the
other side of the body is also pulled into the same track, forming an inguinal
hernia. This condition, called transverse testicular ectopia, is common in
people with persistent Müllerian duct syndrome.
html:p Other effects of persistent Müllerian duct syndrome may include the inability to
father children (infertility) or blood in the semen (hematospermia). Also, the
undescended testes may break down (degenerate) or develop cancer if left
untreated.
related-gene-list
Peters anomaly https://ghr.nlm.nih.gov/condition/peters-anomaly The exact prevalence of Peters anomaly is unknown. This condition is one of html:p Peters anomaly is characterized by eye problems that occur in an area at the ad autosomal dominant CYP1B1 https://ghr.nlm.nih.gov/gene/CYP1B1 irido-corneo-trabecular dysgenesis db key 2014-01 2017-12-29
彼得斯異常 a group of disorders known as congenital corneal opacities, which affect 3 to 6 front part of the eye known as the anterior segment. The anterior segment code memo related-gene gene-symbol ghr-page Peters congenital glaucoma GTR C0344559
(Vision) individuals per 100,000. consists of structures including the lens, the colored part (iris) of the eye, ar autosomal recessive FOXC1 https://ghr.nlm.nih.gov/gene/FOXC1 db key
and the clear covering of the eye (cornea). During development of the eye, the related-gene gene-symbol ghr-page ICD-10-CM Q13.4
elements of the anterior segment form separate structures. However, in Peters PAX6 https://ghr.nlm.nih.gov/gene/PAX6 db key
anomaly, development of the anterior segment is abnormal, leading to incomplete related-gene gene-symbol ghr-page MeSH D003318
separation of the cornea from the iris or the lens. As a result, the cornea is PITX2 https://ghr.nlm.nih.gov/gene/PITX2 db key
cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the OMIM 604229
cornea varies in size and intensity from a small, faint streak to a large, white db key
cloudy area that covers the front surface of the eye. Additionally, the Orphanet 708
location of the opacity varies; the cloudiness may be at the center of the db key
cornea or off-center. Large, centrally located opacities tend to cause poorer SNOMED CT 204153003
vision than smaller, off-center ones.
html:p Nearly half of the individuals affected with Peters anomaly have low vision
early in life and about a quarter are legally blind. Due to a lack of visual
stimulation, some individuals develop "lazy eye" (amblyopia). Peters anomaly is
often associated with other eye problems, such as increased pressure within the
eye (glaucoma), clouding of the lens (cataract), and unusually small eyeballs
(microphthalmia). In most cases, Peters anomaly is bilateral, which means that
it affects both eyes, although the level of vision impairment may be different
in each eye. These individuals may have eyes that do not point in the same
direction (strabismus). In some people with Peters anomaly, corneal clouding
improves over time leading to improved vision.
html:p There are two types of Peters anomaly, which are distinguished by their signs
and symptoms. Peters anomaly type I is characterized by an incomplete separation
of the cornea and iris and mild to moderate corneal opacity. Type II is
characterized by an incomplete separation of the cornea and lens and severe
corneal opacity that may involve the entire cornea.
related-gene-list
Peters plus syndrome https://ghr.nlm.nih.gov/condition/peters-plus-syndrome Peters plus syndrome is a rare disorder; its incidence is unknown. Fewer html:p Peters plus syndrome is an inherited condition that is characterized by eye ar autosomal recessive B3GLCT https://ghr.nlm.nih.gov/gene/B3GLCT Krause-Kivlin syndrome db key 2013-09 2017-12-29
彼得斯加綜合症 than 80 people with this condition have been reported worldwide. abnormalities, short stature, an opening in the lip (cleft lip) with or without Krause-van Schooneveld-Kivlin syndrome GTR C0796012
an opening in the roof of the mouth (cleft palate), distinctive facial features, Peters anomaly-short limb dwarfism syndrome db key
and intellectual disability. Peters'-plus syndrome GeneReviews peters-plus
html:p The eye problems in Peters plus syndrome occur in an area at the front part of Peters' plus syndrome db key
the eye known as the anterior segment. The anterior segment consists of MeSH D015785
structures including the lens, the colored part of the eye (iris), and the clear db key
covering of the eye (cornea). An eye problem called Peters anomaly is the most OMIM 261540
common anterior segment abnormality seen in Peters plus syndrome. Peters anomaly db key
involves abnormal development of the anterior segment, which results in a Orphanet 709
cornea that is cloudy (opaque) and causes blurred vision. Peters anomaly may db key
also be associated with clouding of the lenses of the eyes (cataracts) or other SNOMED CT 449817000
lens abnormalities. Peters anomaly is usually bilateral, which means that it
affects both eyes. The severity of corneal clouding and other eye problems can
vary between individuals with Peters plus syndrome, even among members of the
same family. Many people with Peters plus syndrome experience vision loss that
worsens over time.
html:p All people with Peters plus syndrome have short stature, which is evident before
birth. The height of adult males with this condition ranges from 141
centimeters to 155 centimeters (4 feet, 7 inches to 5 feet, 1 inch), and the
height of adult females ranges from 128 centimeters to 151 centimeters (4 feet,
2 inches to 4 feet, 11 inches). Individuals with Peters plus syndrome also have
shortened upper limbs (rhizomelia) and shortened fingers and toes
(brachydactyly).
html:p The characteristic facial features of Peters plus syndrome include a prominent
forehead; small, malformed ears; narrow eyes; a long area between the nose and
mouth (philtrum); and a pronounced double curve of the upper lip (Cupid's bow).
The neck may also be broad and webbed. A cleft lip with or without a cleft
palate is present in about half of the people with this condition.
html:p Developmental milestones, such as walking and speech, are delayed in most
children with Peters plus syndrome. Most affected individuals also have
intellectual disability that can range from mild to severe, although some have
normal intelligence. The severity of physical features does not predict the
level of intellectual disability.
html:p Less common signs and symptoms of Peters plus syndrome include heart defects,
structural brain abnormalities, hearing loss, and kidney or genital
abnormalities.
related-gene-list
Peutz-Jeghers syndrome https://ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome The prevalence of this condition is uncertain; estimates range from 1 in html:p Peutz-Jeghers syndrome is characterized by the development of noncancerous ad autosomal dominant STK11 https://ghr.nlm.nih.gov/gene/STK11 intestinal polyposis-cutaneous pigmentation syndrome db key 2013-02 2017-12-29
黑斑息肉症候群 25,000 to 300,000 individuals. growths called hamartomatous polyps in the gastrointestinal tract (particularly lentiginosis, perioral GTR C0031269
Peutz-Jeghers症候群 the stomach and intestines) and a greatly increased risk of developing certain periorificial lentiginosis syndrome db key
(Cancer) types of cancer. Peutz-Jeghers polyposis GeneReviews pjs
html:p Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on PJS db key
the lips, around and inside the mouth, near the eyes and nostrils, and around polyposis, hamartomatous intestinal ICD-10-CM Q85.8
the anus. These spots may also occur on the hands and feet. They appear during polyposis, intestinal, II db key
childhood and often fade as the person gets older. In addition, most people with polyps-and-spots syndrome MeSH D010580
Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines db key
during childhood or adolescence. Polyps can cause health problems such as OMIM 175200
recurrent bowel obstructions, chronic bleeding, and abdominal pain. db key
html:p People with Peutz-Jeghers syndrome have a high risk of developing cancer during Orphanet 2869
their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, db key
and breast are among the most commonly reported tumors. SNOMED CT 54411001
related-gene-list
Pfeiffer syndrome https://ghr.nlm.nih.gov/condition/pfeiffer-syndrome Pfeiffer syndrome affects about 1 in 100,000 individuals. html:p Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of ad autosomal dominant FGFR1 https://ghr.nlm.nih.gov/gene/FGFR1 acrocephalosyndactyly, type V db key 2017-01 2017-12-29
Pfeiffer 症候群 certain skull bones (craniosynostosis). This early fusion prevents the skull related-gene gene-symbol ghr-page ACS V GTR C1863356
菲佛氏症 from growing normally and affects the shape of the head and face. Pfeiffer FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 ACS5 db key
syndrome also affects bones in the hands and feet. craniofacial-skeletal-dermatologic dysplasia GeneReviews craniosynostosis
html:p Many of the characteristic facial features of Pfeiffer syndrome result from Noack syndrome db key
premature fusion of the skull bones. Abnormal growth of these bones leads to MeSH D000168
bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a db key
beaked nose. More than half of all children with Pfeiffer syndrome have hearing OMIM 101600
loss; dental problems are also common. db key
html:p In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and Orphanet 710
bend away from the other digits. Unusually short fingers and toes db key
(brachydactyly) are also common, and there may be some webbing or fusion between SNOMED CT 70410008
the digits (syndactyly).
html:p Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic
Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1
Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and
3 are more severe forms of Pfeiffer syndrome that often involve problems with
the nervous system. The premature fusion of skull bones can limit brain growth,
leading to delayed development and other neurological problems. In addition,
individuals with type 2 or 3 can have fusion of the bones (ankylosis) in the
elbow or other joints, limiting mobility, and abnormalities of the face and
airways, which can cause life-threatening breathing problems. Type 2 is
distinguished from type 3 by the presence of a cloverleaf-shaped head, which is
caused by more extensive fusion of bones in the skull.
related-gene-list
Phenylketonuria, PKU https://ghr.nlm.nih.gov/condition/phenylketonuria The occurrence of PKU varies among ethnic groups and geographic regions html:p Phenylketonuria (commonly known as PKU) is an inherited disorder that increases ar autosomal recessive PAH https://ghr.nlm.nih.gov/gene/PAH deficiency disease, phenylalanine hydroxylase db key 2017-10 2017-12-29
苯酮尿症 worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. the levels of a substance called phenylalanine in the blood. Phenylalanine is a Folling disease GTR C0031485
Most cases of PKU are detected shortly after birth by newborn screening, and building block of proteins (an amino acid) that is obtained through the diet. Folling's disease db key
treatment is started promptly. As a result, the severe signs and symptoms of It is found in all proteins and in some artificial sweeteners. If PKU is not PAH deficiency GeneReviews pku
classic PKU are rarely seen. treated, phenylalanine can build up to harmful levels in the body, causing Phenylalanine Hydroxylase Deficiency db key
intellectual disability and other serious health problems. phenylalanine hydroxylase deficiency ICD-10-CM E70.0
html:p The signs and symptoms of PKU vary from mild to severe. The most severe form of phenylalanine hydroxylase deficiency disease db key
this disorder is known as classic PKU. Infants with classic PKU appear normal PKU MeSH D010661
until they are a few months old. Without treatment, these children develop db key
permanent intellectual disability. Seizures, delayed development, behavioral OMIM 261600
problems, and psychiatric disorders are also common. Untreated individuals may db key
have a musty or mouse-like odor as a side effect of excess phenylalanine in the Orphanet 716
body. Children with classic PKU tend to have lighter skin and hair than db key
unaffected family members and are also likely to have skin disorders such as SNOMED CT 297225000
eczema. db key
html:p Less severe forms of this condition, sometimes called variant PKU and non-PKU SNOMED CT 60590005
hyperphenylalaninemia, have a smaller risk of brain damage. People with very db key
mild cases may not require treatment with a low-phenylalanine diet. SNOMED CT 7573000
html:p Babies born to mothers who have PKU and uncontrolled phenylalanine levels (women
who no longer follow a low-phenylalanine diet) have a significant risk of
intellectual disability because they are exposed to very high levels of
phenylalanine before birth. These infants may also have a low birth weight and
grow more slowly than other children. Other characteristic medical problems
include heart defects or other heart problems, an abnormally small head size
(microcephaly), and behavioral problems. Women with PKU and uncontrolled
phenylalanine levels also have an increased risk of pregnancy loss.
related-gene-list
Phosphoglycerate dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/phosphoglycerate-dehydrogenase-deficiency This condition is likely a rare disorder, but its prevalence is unknown. At html:p Phosphoglycerate dehydrogenase deficiency is a condition characterized by an ar autosomal recessive PHGDH https://ghr.nlm.nih.gov/gene/PHGDH 3-PGDH deficiency db key 2014-05 2017-12-29
磷酸甘油酸脫氫酶缺乏症 least 15 cases have been described in the scientific literature. unusually small head size (microcephaly); impaired development of physical 3-phosphoglycerate dehydrogenase deficiency GTR C1866174
reactions, movements, and speech (psychomotor retardation); and recurrent PHGDH deficiency db key
seizures (epilepsy). Different types of phosphoglycerate dehydrogenase MeSH D000592
deficiency have been described; they are distinguished by their severity and the db key
age at which symptoms first begin. Most affected individuals have the infantile OMIM 601815
form, which is the most severe form, and are affected from infancy. Symptoms of db key
the juvenile and adult types appear later in life; these types are very rare. Orphanet 79351
html:p In phosphoglycerate dehydrogenase deficiency there is a progressive loss of db key
brain cells leading to a loss of brain tissue (brain atrophy), specifically SNOMED CT 303098002
affecting the fatty tissue known as myelin that surrounds nerve cells
(hypomyelination). Frequently, the tissue that connects the two halves of the
brain (corpus callosum) is small and thin, and the fluid-filled cavities
(ventricles) near the center of the brain are enlarged. Because development of
the brain is disrupted, the head does not grow at the same rate as the body, so
it appears that the head is getting smaller as the body grows (progressive
microcephaly). Poor brain growth leads to an inability to achieve many
developmental milestones such as sitting unsupported and speaking. Many affected
infants also have difficulty feeding.
html:p The seizures in phosphoglycerate dehydrogenase deficiency can vary in type.
Recurrent muscle contractions called infantile spasms are typical early in the
disorder. Without early treatment, seizures may progress to tonic-clonic
seizures, which involve a loss of consciousness, muscle rigidity, and
convulsions; myoclonic seizures, which involve rapid, uncontrolled muscle jerks;
or drop attacks, which are sudden episodes of weak muscle tone.
html:p Individuals with the infantile form of phosphoglycerate dehydrogenase deficiency
develop many of the features described above. Individuals with the juvenile
form typically have epilepsy as well as mild developmental delay and
intellectual disability. Only one case of the adult form has been reported;
signs and symptoms began in mid-adulthood and included mild intellectual
disability; difficulty coordinating movements (ataxia); and numbness, tingling,
and pain in the arms and legs (sensory neuropathy).
related-gene-list
Phosphoglycerate kinase deficiency https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 html:p Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's xr X-linked recessive PGK1 https://ghr.nlm.nih.gov/gene/PGK1 PGK deficiency db key 2011-12 2017-12-29
磷酸甘油酸激酶缺乏症 families with affected members have been reported in the scientific literature. ability to break down the simple sugar glucose, which is the primary energy PGK1 deficiency GTR C0684324
source for most cells. Researchers have described two major forms of the phosphoglycerate kinase 1 deficiency db key
condition. The most common form is sometimes called the hemolytic form. It is GTR C1970848
characterized by a condition known as chronic hemolytic anemia, in which red db key
blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic MeSH D008661
anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin db key
(jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people OMIM 300653
with the hemolytic form also have symptoms related to abnormal brain function, db key
including intellectual disability, seizures, and stroke. Orphanet 713
html:p The other form of phosphoglycerate kinase deficiency is often called the db key
myopathic form. It primarily affects muscles, causing progressive weakness, SNOMED CT 124335006
pain, and cramping, particularly with exercise. During exercise, muscle tissue
can be broken down, releasing a protein called myoglobin. This protein is
processed by the kidneys and released in the urine (myoglobinuria). If
untreated, myoglobinuria can lead to kidney failure.
html:p Most people with phosphoglycerate kinase deficiency have either the hemolytic
form or the myopathic form. However, other combinations of signs and symptoms
(such as muscle weakness with neurologic symptoms) have also been reported.
related-gene-list
Phosphoglycerate mutase deficiency https://ghr.nlm.nih.gov/condition/phosphoglycerate-mutase-deficiency Phosphoglycerate mutase deficiency is a rare condition; about 15 affected html:p Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles ar autosomal recessive PGAM2 https://ghr.nlm.nih.gov/gene/PGAM2 deficiency mutase phosphoglycerate db key 2011-12 2017-12-29
磷酸甘油酸變位酶缺乏症 people have been reported in the medical literature. Most affected individuals used for movement (skeletal muscles). Beginning in childhood or adolescence, glycogen storage disease X GTR C0268149
have been African American. affected individuals experience muscle aches or cramping following strenuous GSD X db key
physical activity. Some people with this condition also have recurrent episodes GSD10 MeSH D008661
of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally GSDX db key
and releases a protein called myoglobin, which is processed by the kidneys and myopathy due to phosphoglycerate mutase deficiency OMIM 261670
released in the urine. If untreated, myoglobinuria can lead to kidney failure. PGAM deficiency db key
html:p In some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped PGAMM deficiency Orphanet 97234
structures called tubular aggregates are seen in muscle fibers. It is unclear db key
how tubular aggregates are associated with the signs and symptoms of the SNOMED CT 124675005
disorder. db key
related-gene-list SNOMED CT 37666005
Phosphoribosylpyrophosphate synthetase superactivity https://ghr.nlm.nih.gov/condition/phosphoribosylpyrophosphate-synthetase-superac PRS superactivity is believed to be a rare disorder. Approximately 30 html:p Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is xd X-linked dominant PRPS1 https://ghr.nlm.nih.gov/gene/PRPS1 gout, PRPS-related db key 2009-09 2017-12-29
磷酸核糖焦磷酸合成酶超活性 tivity families with the condition have been reported. More than two thirds of these characterized by the overproduction and accumulation of uric acid (a waste PRPP synthetase overactivity GTR C1970827
families are affected by the milder form of the disease. product of normal chemical processes) in the blood and urine. The overproduction PRPP synthetase superactivity db key
of uric acid can lead to gout, which is arthritis caused by an accumulation of PRPS1 superactivity GeneReviews prs
uric acid crystals in the joints. Individuals with PRS superactivity also PRS overactivity db key
develop kidney or bladder stones that may result in episodes of acute kidney PRS superactivity MeSH D033461
failure. db key
html:p There are two forms of PRS superactivity, a severe form that begins in infancy OMIM 300661
or early childhood, and a milder form that typically appears in late adolescence db key
or early adulthood. In both forms, a kidney or bladder stone is often the first Orphanet 3222
symptom. Gout and impairment of kidney function may develop if the condition is db key
not adequately controlled with medication and dietary restrictions. People with SNOMED CT 239847002
the severe form may also have neurological problems, including hearing loss
caused by changes in the inner ear (sensorineural hearing loss), weak muscle
tone (hypotonia), impaired muscle coordination (ataxia), and developmental
delay.
related-gene-list
Piebaldism https://ghr.nlm.nih.gov/condition/piebaldism The prevalence of piebaldism is unknown. html:p Piebaldism is a condition characterized by the absence of cells called ad autosomal dominant KIT https://ghr.nlm.nih.gov/gene/KIT PBT db key 2013-02 2017-12-29
花斑 melanocytes in certain areas of the skin and hair. Melanocytes produce the related-gene gene-symbol ghr-page piebald trait GTR C0080024
pigment melanin, which contributes to hair, eye, and skin color. The absence of SNAI2 https://ghr.nlm.nih.gov/gene/SNAI2 db key
melanocytes leads to patches of skin and hair that are lighter than normal. MeSH D016116
Approximately 90 percent of affected individuals have a white section of hair db key
near their front hairline (a white forelock). The eyelashes, the eyebrows, and OMIM 172800
the skin under the forelock may also be unpigmented. db key
html:p People with piebaldism usually have other unpigmented patches of skin, typically Orphanet 2884
appearing symmetrically on both sides of the body. There may be spots or db key
patches of pigmented skin within or around the borders of the unpigmented areas. SNOMED CT 718122005
html:p In most cases, the unpigmented areas are present at birth and do not increase in
size or number. The unpigmented patches are at increased risk of sunburn and
skin cancer related to excessive sun exposure. Some people with piebaldism are
self-conscious about the appearance of the unpigmented patches, which may be
more noticeable in darker-skinned people. Aside from these potential issues,
this condition has no effect on the health of the affected individual.
related-gene-list
Pilomatricoma https://ghr.nlm.nih.gov/condition/pilomatricoma Pilomatricoma is an uncommon tumor. The exact prevalence is unknown, but html:p Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) u pattern unknown CTNNB1 https://ghr.nlm.nih.gov/gene/CTNNB1 benign pilomatricoma db key 2012-06 2017-12-29
毛母質瘤 pilomatricoma probably accounts for less than 1 percent of all benign skin skin tumor associated with hair follicles. Hair follicles are specialized benign pilomatrixoma GTR C0206711
tumors. structures in the skin where hair growth occurs. Pilomatricomas occur most often calcifying epithelioma of Malherbe db key
on the head or neck, although they can also be found on the arms, torso, or Malherbe calcifying epithelioma MeSH D018296
legs. A pilomatricoma feels like a small, hard lump under the skin. This type of pilomatrixoma db key
tumor grows relatively slowly and usually does not cause pain or other OMIM 132600
symptoms. Most affected individuals have a single tumor, although rarely db key
multiple pilomatricomas can occur. If a pilomatricoma is removed surgically, it Orphanet 91414
tends not to grow back (recur). db key
html:p Most pilomatricomas occur in people under the age of 20. However, these tumors SNOMED CT 274901004
can also appear later in life. Almost all pilomatricomas are benign, but a very db key
small percentage are cancerous (malignant). Unlike the benign form, the SNOMED CT 44155009
malignant version of this tumor (known as a pilomatrix carcinoma) occurs most
often in middle age or late in life.
html:p Pilomatricoma usually occurs without other signs or symptoms (isolated), but
this type of tumor has also rarely been reported with inherited conditions.
Disorders that can be associated with pilomatricoma include Gardner syndrome,
which is characterized by multiple growths (polyps) and cancers of the colon and
rectum; myotonic dystrophy, which is a form of muscular dystrophy; and
Rubinstein-Taybi syndrome, which is a condition that affects many parts of the
body and is associated with an increased risk of both benign and malignant
tumors.
related-gene-list
Pitt-Hopkins syndrome https://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome Pitt-Hopkins syndrome is thought to be a very rare condition. Approximately html:p Pitt-Hopkins syndrome is a condition characterized by intellectual disability ad autosomal dominant TCF4 https://ghr.nlm.nih.gov/gene/TCF4 PHS db key 2015-02 2017-12-29
皮特 - 霍普金斯綜合症 500 affected individuals have been reported worldwide. and developmental delay, breathing problems, recurrent seizures (epilepsy), and PTHS GTR C1970431
distinctive facial features. db key
html:p People with Pitt-Hopkins syndrome have moderate to severe intellectual GeneReviews pitt-hopkins
disability. Most affected individuals have delayed development of mental and db key
motor skills (psychomotor delay). They are delayed in learning to walk and MeSH D008607
developing fine motor skills such as picking up small items with their fingers. db key
People with Pitt-Hopkins syndrome typically do not develop speech; some may OMIM 610954
learn to say a few words. Many affected individuals exhibit features of autistic db key
spectrum disorders, which are characterized by impaired communication and SNOMED CT 702344008
socialization skills.
html:p Breathing problems in individuals with Pitt-Hopkins syndrome are characterized
by episodes of rapid breathing (hyperventilation) followed by periods in which
breathing slows or stops (apnea). These episodes can cause a lack of oxygen in
the blood, leading to a bluish appearance of the skin or lips (cyanosis). In
some cases, the lack of oxygen can cause loss of consciousness. Some older
individuals with Pitt-Hopkins syndrome develop widened and rounded tips of the
fingers and toes (clubbing) because of recurrent episodes of decreased oxygen in
the blood. The breathing problems occur only when the person is awake and
typically first appear in mid-childhood, but they can begin as early as infancy.
Episodes of hyperventilation and apnea can be triggered by emotions such as
excitement or anxiety or by extreme tiredness (fatigue).
html:p Epilepsy occurs in most people with Pitt-Hopkins syndrome and usually begins
during childhood, although it can be present from birth.
html:p Individuals with Pitt-Hopkins syndrome have distinctive facial features that
include thin eyebrows, sunken eyes, a prominent nose with a high nasal bridge, a
pronounced double curve of the upper lip (Cupid's bow), a wide mouth with full
lips, and widely spaced teeth. The ears are usually thick and cup-shaped.
html:p Children with Pitt-Hopkins syndrome typically have a happy, excitable demeanor
with frequent smiling, laughter, and hand-flapping movements. However, they can
also experience anxiety and behavioral problems.
html:p Other features of Pitt-Hopkins syndrome may include constipation and other
gastrointestinal problems, an unusually small head (microcephaly),
nearsightedness (myopia), eyes that do not look in the same direction
(strabismus), short stature, and minor brain abnormalities. Affected individuals
may also have small hands and feet, a single crease across the palms of the
hands, flat feet (pes planus), or unusually fleshy pads at the tips of the
fingers and toes. Males with Pitt-Hopkins syndrome may have undescended testes
(cryptorchidism).
related-gene-list
Platyspondylic lethal skeletal dysplasia, Torrance type https://ghr.nlm.nih.gov/condition/platyspondylic-lethal-skeletal-dysplasia-torra This condition is very rare; only a few affected individuals have been html:p Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of ad autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 platyspondylic chondrodysplasia, Torrance-Luton type db key 2008-07 2017-12-29
nce-type reported worldwide. bone growth. People with this condition have very short arms and legs, platyspondylic skeletal dysplasia, Torrance type GTR C1835437
underdeveloped pelvic bones, and unusually short fingers and toes PLSD-T db key
(brachydactyly). This disorder is also characterized by flattened spinal PLSD-TL MeSH D003095
bones (platyspondyly) and an exaggerated curvature of the lower back (lordosis). db key
Infants with this condition are born with a small chest with short ribs that MeSH D010009
can restrict the growth and expansion of the lungs. db key
html:p As a result of these serious health problems, some affected fetuses do not OMIM 151210
survive to term. Infants born with platyspondylic lethal skeletal dysplasia, db key
Torrance type usually die at birth or shortly thereafter from respiratory Orphanet 1417
failure. A few affected people with milder signs and symptoms have lived into db key
adulthood. SNOMED CT 254047006
inheritance-pattern-list
PMM2-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation More than 800 individuals with PMM2-CDG have been identified worldwide. html:p html:i -CDG, also known as congenital disorder of glycosylation type Ia) is an ar autosomal recessive gene-symbol synonym carbohydrate-deficient glycoprotein syndrome type Ia db-key db key 2010-07 2017-12-29
PMM2 inherited condition that affects many parts of the body. The type and severity PMM2 synonym CDG Ia GTR C0349653
html:i -CDG vary widely among affected individuals, sometimes even among members of the synonym CDG1a db-key db key
PMM2 same family. synonym CDGS1a GeneReviews cdg-1a
html:p Individuals with PMM2-CDG typically develop signs and symptoms of the condition during infancy synonym congenital disorder of glycosylation type Ia db-key db key
synonym Jaeken syndrome MeSH D018981
synonym phosphomannomutase 2 deficiency db-key db key
synonym PMM deficiency OMIM 212065
-CDG also frequently have an underdeveloped cerebellum, which is the part of the synonym PMM2-CDG db-key db key
brain that coordinates movement. Distinctive facial features are sometimes SNOMED CT 459063003
present in affected individuals, including a high forehead, a triangular face,
html:i -CDG may also have elevated liver function test results, seizures, fluid around
PMM2 the heart (pericardial effusion), and blood clotting disorders. About 20 percent
of affected infants do not survive the first year of life due to multiple organ
failure.
html:p The most severe cases of PMM2-CDG are characterized by hydrops fetalis, a condition in which
excess fluid builds up in the body before birth. Most babies with hydrops fetalis are stillborn or die
soon after birth.
html:p html:i
PMM2
html:p html:i
PMM2
-CDG have hypergonadotropic hypogonadism, which affects the production of
html:i -CDG do not go through puberty. Affected males experience normal puberty but
PMM2 often have small testes.
related-gene-list
Pol III-related leukodystrophy https://ghr.nlm.nih.gov/condition/pol-iii-related-leukodystrophy Pol III-related leukodystrophy is a rare disorder; its prevalence is html:p Pol III-related leukodystrophy is a disorder that affects the nervous system and ar autosomal recessive POLR3A https://ghr.nlm.nih.gov/gene/POLR3A 4H syndrome db key 2017-06 2017-12-29
Pol III相關的腦白質營養不良 unknown. More than 100 affected individuals have been described in the medical other parts of the body. Leukodystrophies are conditions that involve related-gene gene-symbol ghr-page ADDH GTR CN168056
literature. abnormalities of the nervous system's white matter, which consists of nerve POLR3B https://ghr.nlm.nih.gov/gene/POLR3B ataxia, delayed dentition, and hypomyelination db key
fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers dentoleukoencephalopathy GeneReviews pol3-leuk
and promotes the rapid transmission of nerve impulses. HCAHC db key
html:p Pol III-related leukodystrophy is a hypomyelinating disease, which means that HLD7 MeSH D020279
the nervous system of affected individuals has a reduced ability to form myelin. HLD8 db key
Hypomyelination underlies most of the neurological problems associated with Pol hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum OMIM 607694
III-related leukodystrophy. A small number of people with this disorder also hypomyelination, hypodontia, hypogonadotropic hypogonadism db key
have a loss of nerve cells in a part of the brain involved in coordinating leukodystrophy with oligodontia OMIM 614381
movements (cerebellar atrophy) and underdevelopment (hypoplasia) of tissue that leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or db key
connects the left and right halves of the brain (the corpus callosum). These hypogonadotropic hypogonadism Orphanet 137639
brain abnormalities likely contribute to the neurological problems in affected leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or db key
individuals. hypogonadotropic hypogonadism Orphanet 77295
html:p People with Pol III-related leukodystrophy usually have intellectual disability leukoencephalopathy-ataxia-hypodontia-hypomyelination db key
ranging from mild to severe, which gradually worsens over time. Some affected LO Orphanet 88637
individuals have normal intelligence in early childhood but develop mild odontoleukodystrophy db key
intellectual disability during the course of the disease. Pol III disorder SNOMED CT 712637001
html:p Difficulty coordinating movements (ataxia), which begins in childhood and slowly Pol III-related hypomyelinating leukodystrophies db key
worsens over time, is a characteristic feature of Pol III-related ribonucleic acid polymerase III-related leukodystrophy SNOMED CT 721846006
leukodystrophy. Affected children typically have delayed development of motor TACH db key
skills such as walking. Their gait is unstable, and they usually walk with their tremor-ataxia with central hypomyelination SNOMED CT 722064003
feet wide apart for balance. Affected individuals may eventually need to use a
walker or wheelchair. Involuntary rhythmic shaking (tremor) of the arms and
hands may occur in this disorder. In some cases the tremor occurs mainly during
movement (intention tremor); other affected individuals experience the tremor
both during movement and at rest.
html:p Development of the teeth (dentition) is often abnormal in Pol III-related
leukodystrophy, resulting in the absence of some teeth (known as hypodontia or
oligodontia). Some affected infants are born with a few teeth (natal teeth),
which fall out during the first weeks of life. The primary (deciduous) teeth
appear later than usual, beginning at about age 2. In Pol III-related
leukodystrophy, the teeth may not appear in the usual sequence, in which front
teeth (incisors) appear before back teeth (molars). Instead, molars often appear
first, with incisors appearing later or not at all. Permanent teeth are also
delayed, and may not appear until adolescence. The teeth may also be unusually
shaped.
html:p Some individuals with Pol III-related leukodystrophy have excessive salivation
and difficulty chewing or swallowing (dysphagia), which can lead to choking.
They may also have speech impairment (dysarthria). People with Pol III-related
leukodystrophy often have abnormalities in eye movement, such as progressive
vertical gaze palsy, which is restricted up-and-down eye movement that worsens
over time. Nearsightedness is common in affected individuals, and clouding of
the lens of the eyes (cataracts) has also been reported. Deterioration (atrophy)
of the nerves that carry information from the eyes to the brain (the optic
nerves) and seizures may also occur in this disorder.
html:p Hypogonadotropic hypogonadism, which is a condition caused by reduced production
of hormones that direct sexual development, may occur in Pol III-related
leukodystrophy. Affected individuals have delayed development of the typical
signs of puberty, such as the growth of body hair.
html:p People with Pol III-related leukodystrophy may have different combinations of
its signs and symptoms. These varied combinations of clinical features were
originally described as separate disorders. Affected individuals may be
diagnosed with ataxia, delayed dentition, and hypomyelination (ADDH);
hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome);
tremor-ataxia with central hypomyelination (TACH); leukodystrophy with
oligodontia (LO); or hypomyelination with cerebellar atrophy and hypoplasia of
the corpus callosum (HCAHC). Because these disorders were later found to have
the same genetic cause, researchers now group them as variations of the single
condition Pol III-related leukodystrophy.
synonym-list db-key-list
Poland syndrome https://ghr.nlm.nih.gov/condition/poland-syndrome Poland syndrome has been estimated to occur in 1 in 20,000 newborns. For html:p Poland syndrome is a disorder in which affected individuals are born with u pattern unknown synonym Poland sequence key 2017-12-29
波蘭綜合症 unknown reasons, this disorder occurs more than twice as often in males than in missing or underdeveloped muscles on one side of the body, resulting in synonym Poland syndactyly db-key C0032357
females. Poland syndrome may be underdiagnosed because mild cases without hand abnormalities that can affect the chest, shoulder, arm, and hand. The extent and synonym Poland's anomaly key
involvement may never come to medical attention. severity of the abnormalities vary among affected individuals. synonym Poland's syndrome db-key D011045
html:p People with Poland syndrome are typically missing part of one of the major chest synonym unilateral defect of pectoralis major and syndactyly of the hand key
muscles, called the pectoralis major. In most affected individuals, the missing db-key 173800
part is the large section of the muscle that normally runs from the upper arm key
to the breastbone (sternum). The abnormal pectoralis major muscle may cause the db-key 2911
chest to appear concave. In some cases, additional muscles on the affected side key
of the torso, including muscles in the chest wall, side, and shoulder, may be 38371006
missing or underdeveloped. There may also be rib cage abnormalities, such as
shortened ribs, and the ribs may be noticeable due to less fat under the skin
(subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm
(axillary) hair is sometimes sparse or abnormally placed. In most cases, the
abnormalities in the chest area do not cause health problems or affect movement.
html:p Many people with Poland syndrome have hand abnormalities on the affected side,
commonly including an underdeveloped hand with abnormally short fingers
(brachydactyly); small, underdeveloped (vestigial) fingers; and some fingers
that are fused together (syndactyly). This combination of hand abnormalities is
called symbrachydactyly. Some affected individuals have only one or two of
these features, or have a mild hand abnormality that is hardly noticeable; more
severe abnormalities can cause problems with use of the hand. The bones of the
forearm (radius and ulna) are shortened in some people with Poland syndrome, but
this shortening may also be difficult to detect unless measured.
html:p Mild cases of Poland syndrome without hand involvement may not be evident until
puberty, when the differences (asymmetry) between the two sides of the chest
become more apparent. By contrast, severely affected individuals have
abnormalities of the chest, hand, or both that are apparent at birth. In rare
cases, severely affected individuals have abnormalities of internal organs such
as a lung or a kidney, or the heart is abnormally located in the right side of
the chest (dextrocardia).
html:p Rarely, chest and hand abnormalities resembling those of Poland syndrome occur
on both sides of the body, but researchers disagree as to whether this condition
is a variant of Poland syndrome or a different disorder.
related-gene-list
Polycystic kidney disease https://ghr.nlm.nih.gov/condition/polycystic-kidney-disease Polycystic kidney disease is a fairly common genetic disorder. It affects html:p Polycystic kidney disease is a disorder that affects the kidneys and other ad autosomal dominant PKD1 https://ghr.nlm.nih.gov/gene/PKD1 PKD db key 2014-05 2017-12-29
多囊性腎疾病 about 500,000 people in the United States. The autosomal dominant form of the organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and code memo related-gene gene-symbol ghr-page polycystic renal disease GTR C0085413
disease is much more common than the autosomal recessive form. Autosomal interfere with their ability to filter waste products from the blood. The growth ar autosomal recessive PKD2 https://ghr.nlm.nih.gov/gene/PKD2 db key
dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the of cysts causes the kidneys to become enlarged and can lead to kidney failure. related-gene gene-symbol ghr-page GTR C0085548
autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people. Cysts may also develop in other organs, particularly the liver. PKHD1 https://ghr.nlm.nih.gov/gene/PKHD1 db key
html:p Frequent complications of polycystic kidney disease include dangerously high GTR C1418603
blood pressure (hypertension), pain in the back or sides, blood in the urine db key
(hematuria), recurrent urinary tract infections, kidney stones, and heart valve GTR C2751306
abnormalities. Additionally, people with polycystic kidney disease have an db key
increased risk of an abnormal bulging (an aneurysm) in a large blood vessel GTR CN119611
called the aorta or in blood vessels at the base of the brain. Aneurysms can be db key
life-threatening if they tear or rupture. GeneReviews pkd-ad
html:p The two major forms of polycystic kidney disease are distinguished by the usual db key
age of onset and the pattern in which it is passed through families. The GeneReviews pkd-ar
autosomal dominant form (sometimes called ADPKD) has signs and symptoms that db key
typically begin in adulthood, although cysts in the kidney are often present ICD-10-CM Q61.1
Autosomal dominant from birth or childhood. Autosomal dominant polycystic kidney disease can be db key
further divided into type 1 and type 2, depending on the genetic cause. The ICD-10-CM Q61.2
Autosomal recessive Polycystic kidney disease autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) db key
常染色体隐性多囊性肾脏疾病 is much rarer and is often lethal early in life. The signs and symptoms of this ICD-10-CM Q61.3
condition are usually apparent at birth or in early infancy. db key
ICD-10-CM Q61.11
db key
ICD-10-CM Q61.19
db key
ICD-10-CM Z82.71
db key
MeSH D007690
db key
OMIM 173900
db key
OMIM 263200
db key
OMIM 600666
db key
OMIM 613095
db key
Orphanet 730
db key
Orphanet 731
db key
SNOMED CT 28728008
db key
related-gene-list SNOMED CT 28770003
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with- PLOSL is a very rare condition. It was first reported in the Finnish html:p Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, ar autosomal recessive TREM2 https://ghr.nlm.nih.gov/gene/TREM2 Nasu-Hakola disease db key 2008-11 2017-12-29
多囊性脂膜性骨發育不良伴硬化性白質腦病 sclerosing-leukoencephalopathy population, where it has an estimated prevalence of 1 to 2 per million people. commonly known as PLOSL, is a progressive disorder that affects the bones and related-gene gene-symbol ghr-page NHD GTR C1857316
This condition has also been diagnosed in more than 100 people in the Japanese brain. "Polycystic lipomembranous osteodysplasia" refers to cyst-like bone TYROBP https://ghr.nlm.nih.gov/gene/TYROBP PLO-SL db key
population. Although affected individuals have been reported worldwide, PLOSL changes that can be seen on x-rays. "Sclerosing leukoencephalopathy" describes PLOSL GeneReviews plosl
appears to be less common in other countries. specific changes in the brain that are found in people with this disorder. Presenile dementia with bone cysts db key
html:p The bone abnormalities associated with PLOSL usually become apparent in a MeSH D019636
person's twenties. In most affected individuals, pain and tenderness in the db key
ankles and feet are the first symptoms of the disease. Several years later, OMIM 221770
broken bones (fractures) begin to occur frequently, particularly in bones of the db key
ankles, feet, wrists, and hands. Bone pain and fractures are caused by Orphanet 2770
thinning of the bones (osteoporosis) and cyst-like changes. These abnormalities db key
weaken bones and make them more likely to break. SNOMED CT 702347001
html:p The brain abnormalities characteristic of PLOSL typically appear in a person's
thirties. Personality changes are among the first noticeable problems, followed
by a loss of judgment, feelings of intense happiness (euphoria), a loss of
inhibition, and poor concentration. These neurologic changes cause significant
problems in an affected person's social and family life. As the disease
progresses, it causes a severe decline in thinking and reasoning abilities
(dementia). Affected people ultimately become unable to walk, speak, or care for
themselves. People with this disease usually live only into their thirties or
forties.
related-gene-list
Polycythemia vera https://ghr.nlm.nih.gov/condition/polycythemia-vera The prevalence of polycythemia vera varies worldwide. The condition affects html:p Polycythemia vera is a condition characterized by an increased number of red ad autosomal dominant JAK2 https://ghr.nlm.nih.gov/gene/JAK2 Osler-Vaquez disease db key 2013-07 2017-12-29
真性紅細胞增多症 an estimated 44 to 57 per 100,000 individuals in the United States. For unknown blood cells in the bloodstream. Affected individuals may also have excess white code memo related-gene gene-symbol ghr-page polycythemia ruba vera GTR C0032463
reasons, men develop polycythemia vera more frequently than women. blood cells and blood clotting cell fragments called platelets. These extra n not inherited TET2 https://ghr.nlm.nih.gov/gene/TET2 primary polycythemia db key
cells and platelets cause the blood to be thicker than normal. As a result, PRV ICD-10-CM D45
abnormal blood clots are more likely to form and block the flow of blood through PV db key
arteries and veins. Individuals with polycythemia vera have an increased risk MeSH D011087
of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep db key
veins of the arms or legs. If a DVT travels through the bloodstream and lodges OMIM 263300
in the lungs, it can cause a life-threatening clot known as a pulmonary embolism db key
(PE). Affected individuals also have an increased risk of heart attack and Orphanet 729
stroke caused by blood clots in the heart and brain. db key
html:p Polycythemia vera typically develops in adulthood, around age 60, although in SNOMED CT 109992005
rare cases it occurs in children and young adults. This condition may not cause db key
any symptoms in its early stages. Some people with polycythemia vera experience SNOMED CT 127066000
headaches, dizziness, ringing in the ears (tinnitus), impaired vision, or itchy db key
skin. Affected individuals frequently have reddened skin because of the extra SNOMED CT 128841001
red blood cells. Other complications of polycythemia vera include an enlarged db key
spleen (splenomegaly), stomach ulcers, gout (a form of arthritis caused by a SNOMED CT 414127000
buildup of uric acid in the joints), heart disease, and cancer of blood-forming
cells (leukemia).
related-gene-list
Polymicrogyria https://ghr.nlm.nih.gov/condition/polymicrogyria The prevalence of isolated polymicrogyria is unknown. Researchers believe html:p Polymicrogyria is a condition characterized by abnormal development of the brain ad autosomal dominant ADGRG1 https://ghr.nlm.nih.gov/gene/ADGRG1 PMG db key 2009-06 2017-12-29
多小腦回 that it may be relatively common overall, although the individual forms of the before birth. The surface of the brain normally has many ridges or folds, code memo GTR C1845668
disorder (such as bilateral generalized polymicrogyria) are probably rare. called gyri. In people with polymicrogyria, the brain develops too many folds, ar autosomal recessive db key
and the folds are unusually small. The name of this condition literally means code memo GTR C1847352
too many (poly-) small (micro-) folds (-gyria) in the surface of the brain. xd X-linked dominant db key
html:p Polymicrogyria can affect part of the brain or the whole brain. When the code memo GTR C2675191
condition affects one side of the brain, researchers describe it as unilateral. xr X-linked recessive db key
When it affects both sides of the brain, it is described as bilateral. The signs GTR C2750247
and symptoms associated with polymicrogyria depend on how much of the brain, db key
and which particular brain regions, are affected. GeneReviews poly
html:p Researchers have identified multiple forms of polymicrogyria. The mildest form db key
is known as unilateral focal polymicrogyria. This form of the condition affects MeSH D065706
a relatively small area on one side of the brain. It may cause minor db key
neurological problems, such as mild seizures that can be easily controlled with OMIM 300388
medication. Some people with unilateral focal polymicrogyria do not have any db key
problems associated with the condition. OMIM 606854
html:p Bilateral forms of polymicrogyria tend to cause more severe neurological db key
problems. Signs and symptoms of these conditions can include recurrent seizures OMIM 610031
(epilepsy), delayed development, crossed eyes, problems with speech and db key
swallowing, and muscle weakness or paralysis. The most severe form of the OMIM 612691
disorder, bilateral generalized polymicrogyria, affects the entire brain. This db key
condition causes severe intellectual disability, problems with movement, and Orphanet 35981
seizures that are difficult or impossible to control with medication. db key
html:p Polymicrogyria most often occurs as an isolated feature, although it can occur SNOMED CT 438583008
with other brain abnormalities. It is also a feature of several genetic db key
syndromes characterized by intellectual disability and multiple birth defects. SNOMED CT 4945003
These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi db key
syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum SNOMED CT 715905006
disorder. db key
related-gene-list SNOMED CT 722036008
Pompe disease (GSDII) https://ghr.nlm.nih.gov/condition/pompe-disease Pompe disease affects about 1 in 40,000 people in the United States. The html:p Pompe disease is an inherited disorder caused by the buildup of a complex sugar ar autosomal recessive GAA https://ghr.nlm.nih.gov/gene/GAA acid maltase deficiency db key 2016-02 2017-12-29
glycogen storage disease type II incidence of this disorder varies among different ethnic groups. called glycogen in the body's cells. The accumulation of glycogen in certain acid maltase deficiency disease GTR C0017921
肝醣儲積症第二型 organs and tissues, especially muscles, impairs their ability to function alpha-1,4-glucosidase deficiency db key
(龐貝氏症) normally. AMD GTR C0751173
html:p Researchers have described three types of Pompe disease, which differ in deficiency of alpha-glucosidase db key
severity and the age at which they appear. These types are known as classic GAA deficiency GeneReviews gsd2
infantile-onset, non-classic infantile-onset, and late-onset. glycogen storage disease type II db key
html:p The classic form of infantile-onset Pompe disease begins within a few months of glycogenosis Type II ICD-10-CM E74.02
birth. Infants with this disorder typically experience muscle weakness GSD II db key
(myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and GSD2 MeSH D006009
heart defects. Affected infants may also fail to gain weight and grow at the Pompe's disease db key
expected rate (failure to thrive) and have breathing problems. If untreated, OMIM 232300
this form of Pompe disease leads to death from heart failure in the first year db key
of life. Orphanet 365
html:p The non-classic form of infantile-onset Pompe disease usually appears by age 1. db key
It is characterized by delayed motor skills (such as rolling over and sitting) SNOMED CT 124462004
and progressive muscle weakness. The heart may be abnormally large db key
(cardiomegaly), but affected individuals usually do not experience heart SNOMED CT 274864009
failure. The muscle weakness in this disorder leads to serious breathing
problems, and most children with non-classic infantile-onset Pompe disease live
only into early childhood.
html:p The late-onset type of Pompe disease may not become apparent until later in
childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder
than the infantile-onset forms of this disorder and is less likely to involve
the heart. Most individuals with late-onset Pompe disease experience progressive
muscle weakness, especially in the legs and the trunk, including the muscles
that control breathing. As the disorder progresses, breathing problems can lead
to respiratory failure.
related-gene-list
Pontocerebellar hypoplasia https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia The prevalence of pontocerebellar hypoplasia is unknown, although most html:p Pontocerebellar hypoplasia is a group of related conditions that affect the ar autosomal recessive AMPD2 https://ghr.nlm.nih.gov/gene/AMPD2 congenital pontocerebellar hypoplasia db key 2014-11 2017-12-29
橋腦小腦發育不全 forms of the disorder appear to be very rare. development of the brain. The term "pontocerebellar" refers to the pons and the related-gene gene-symbol ghr-page OPCH GTR C1261175
cerebellum, which are the brain structures that are most severely affected in CHMP1A https://ghr.nlm.nih.gov/gene/CHMP1A PCH db key
many forms of this disorder. The pons is located at the base of the brain in an related-gene gene-symbol ghr-page GTR C1842687
area called the brainstem, where it transmits signals between the cerebellum and CLP1 https://ghr.nlm.nih.gov/gene/CLP1 db key
the rest of the brain. The cerebellum, which is located at the back of the related-gene gene-symbol ghr-page GTR C1843504
brain, normally coordinates movement. The term "hypoplasia" refers to the EXOSC3 https://ghr.nlm.nih.gov/gene/EXOSC3 db key
underdevelopment of these brain regions. related-gene gene-symbol ghr-page GTR C1848526
html:p Pontocerebellar hypoplasia also causes impaired growth of other parts of the RARS2 https://ghr.nlm.nih.gov/gene/RARS2 db key
brain, leading to an unusually small head size (microcephaly). This microcephaly related-gene gene-symbol ghr-page GTR C1856974
is usually not apparent at birth but becomes noticeable as brain growth SEPSECS https://ghr.nlm.nih.gov/gene/SEPSECS db key
continues to be slow in infancy and early childhood. related-gene gene-symbol ghr-page GTR C1857762
html:p Researchers have described at least ten types of pontocerebellar hypoplasia. All TSEN2 https://ghr.nlm.nih.gov/gene/TSEN2 db key
forms of this condition are characterized by impaired brain development, related-gene gene-symbol ghr-page GTR C1969084
delayed development overall, problems with movement, and intellectual TSEN34 https://ghr.nlm.nih.gov/gene/TSEN34 db key
disability. The brain abnormalities are usually present at birth, and in some related-gene gene-symbol ghr-page GTR C2676465
cases they can be detected before birth. Many children with pontocerebellar TSEN54 https://ghr.nlm.nih.gov/gene/TSEN54 db key
hypoplasia live only into infancy or childhood, although some affected related-gene gene-symbol ghr-page GTR C2676466
individuals have lived into adulthood. VRK1 https://ghr.nlm.nih.gov/gene/VRK1 db key
html:p The two major forms of pontocerebellar hypoplasia are designated as type 1 GTR C2932714
(PCH1) and type 2 (PCH2). In addition to the brain abnormalities described db key
above, PCH1 causes problems with muscle movement resulting from a loss of GTR C3151140
specialized nerve cells called motor neurons in the spinal cord, similar to db key
another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 GTR C3553449
also have very weak muscle tone (hypotonia), joint deformities called db key
contractures, vision impairment, and breathing and feeding problems that are GTR C3554209
evident from early infancy. db key
html:p Common features of PCH2 include a lack of voluntary motor skills (such as GTR C3554226
grasping objects, sitting, or walking), problems with swallowing (dysphagia), db key
and an absence of communication, including speech. Affected children typically GTR C4014347
develop temporary jitteriness (generalized clonus) in early infancy, abnormal db key
patterns of movement described as chorea or dystonia, and stiffness GTR C4014488
(spasticity). Many also have impaired vision and seizures. db key
html:p The other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) GTR C4015160
through type 10 (PCH10), appear to be rare and have each been reported in only a db key
small number of individuals. Because the different types have overlapping GeneReviews exosc3-pc-hypo-p
features, and some are caused by mutations in the same genes, researchers have db key
proposed that the types be considered as a spectrum instead of distinct GeneReviews pc-hypo-p
conditions. db key
MeSH D002526
db key
OMIM 225753
db key
OMIM 277470
db key
OMIM 607596
db key
OMIM 608027
db key
OMIM 610204
db key
OMIM 611523
db key
OMIM 612389
db key
OMIM 612390
db key
OMIM 613811
db key
OMIM 614678
db key
OMIM 614961
db key
OMIM 614969
db key
OMIM 615803
db key
OMIM 615809
db key
OMIM 615851
db key
Orphanet 2254
db key
Orphanet 2524
db key
Orphanet 166063
db key
Orphanet 166068
db key
Orphanet 166073
db key
Orphanet 284339
db key
Orphanet 324569
db key
Orphanet 97249
db key
Orphanet 98523
db key
SNOMED CT 373666002
db key
related-gene-list SNOMED CT 45163000
Popliteal pterygium syndrome https://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome Popliteal pterygium syndrome is a rare condition, occurring in html:p Popliteal pterygium syndrome is a condition that affects the development of the ad autosomal dominant IRF6 https://ghr.nlm.nih.gov/gene/IRF6 Facio-genito-popliteal syndrome db key 2008-04 2017-12-29
翼狀胬肉綜合徵 approximately 1 in 300,000 individuals. face, skin, and genitals. Most people with this disorder are born with a cleft PPS GTR C0265259
lip, a cleft palate (an opening in the roof of the mouth), or both. Affected db key
individuals may have depressions (pits) near the center of the lower lip, which GeneReviews vws
may appear moist due to the presence of salivary and mucous glands in the pits. db key
Small mounds of tissue on the lower lip may also occur. In some cases, people MeSH D000015
with popliteal pterygium syndrome have missing teeth. db key
html:p Individuals with popliteal pterygium syndrome may be born with webs of skin on OMIM 119500
the backs of the legs across the knee joint, which may impair mobility unless db key
surgically removed. Affected individuals may also have webbing or fusion of the SNOMED CT 66783006
fingers or toes (syndactyly), characteristic triangular folds of skin over the
nails of the large toes, or tissue connecting the upper and lower eyelids or the
upper and lower jaws. They may have abnormal genitals, including unusually
small external genital folds (hypoplasia of the labia majora) in females.
Affected males may have undescended testes (cryptorchidism) or a scrotum divided
into two lobes (bifid scrotum).
html:p People with popliteal pterygium syndrome who have cleft lip and/or palate, like
other individuals with these facial conditions, may have an increased risk of
delayed language development, learning disabilities, or other mild cognitive
problems. The average IQ of individuals with popliteal pterygium syndrome is not
significantly different from that of the general population.
related-gene-list
Porphyria https://ghr.nlm.nih.gov/condition/porphyria The exact prevalence of porphyria is unknown, but it probably ranges from 1 html:p Porphyria is a group of disorders caused by abnormalities in the chemical steps ad autosomal dominant ALAD https://ghr.nlm.nih.gov/gene/ALAD Hematoporphyria db key 2009-07 2017-12-29
紫質症 in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the that lead to heme production. Heme is a vital molecule for all of the body's code memo related-gene gene-symbol ghr-page porphyrin disorder GTR C0032708
most common type of porphyria. For some forms of porphyria, the prevalence is organs, although it is most abundant in the blood, bone marrow, and liver. Heme ar autosomal recessive ALAS2 https://ghr.nlm.nih.gov/gene/ALAS2 db key
unknown because many people with a genetic mutation associated with the disease is a component of several iron-containing proteins called hemoproteins, code memo related-gene gene-symbol ghr-page GTR C0162530
never experience signs or symptoms.Acute intermittent porphyria is the most including hemoglobin (the protein that carries oxygen in the blood). xd X-linked dominant CPOX https://ghr.nlm.nih.gov/gene/CPOX db key
common form of acute porphyria in most countries. It may occur more frequently html:p Researchers have identified several types of porphyria, which are distinguished related-gene gene-symbol ghr-page GTR C0162531
in northern European countries, such as Sweden, and in the United Kingdom. by their genetic cause and their signs and symptoms. Some types of porphyria, FECH https://ghr.nlm.nih.gov/gene/FECH db key
Another form of the disorder, hereditary coproporphyria, has been reported called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to related-gene gene-symbol ghr-page GTR C0162532
mostly in Europe and North America. Variegate porphyria is most common in the the sun become fragile and blistered, which can lead to infection, scarring, HFE https://ghr.nlm.nih.gov/gene/HFE db key
Afrikaner population of South Africa; about 3 in 1,000 people in this population changes in skin coloring (pigmentation), and increased hair growth. Cutaneous related-gene gene-symbol ghr-page GTR C0162565
have the genetic change that causes this form of the disorder. porphyrias include congenital erythropoietic porphyria, erythropoietic HMBS https://ghr.nlm.nih.gov/gene/HMBS db key
protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda. related-gene gene-symbol ghr-page GTR C0162568
html:p Other types of porphyria, called acute porphyrias, primarily affect the nervous PPOX https://ghr.nlm.nih.gov/gene/PPOX db key
system. These disorders are described as "acute" because their signs and related-gene gene-symbol ghr-page GTR C0268323
symptoms appear quickly and usually last a short time. Episodes of acute UROD https://ghr.nlm.nih.gov/gene/UROD db key
porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. related-gene gene-symbol ghr-page GTR C2677889
During an episode, a person may also experience muscle weakness, seizures, UROS https://ghr.nlm.nih.gov/gene/UROS db key
fever, and mental changes such as anxiety and hallucinations. These signs and GeneReviews aip
symptoms can be life-threatening, especially if the muscles that control db key
breathing become paralyzed. Acute porphyrias include acute intermittent GeneReviews cep
porphyria and ALAD deficiency porphyria. Two other forms of porphyria, db key
hereditary coproporphyria and variegate porphyria, can have both acute and GeneReviews epp-ar
cutaneous symptoms. db key
html:p The porphyrias can also be split into erythropoietic and hepatic types, GeneReviews epp-xl
depending on where damaging compounds called porphyrins and porphyrin precursors db key
first build up in the body. In erythropoietic porphyrias, these compounds GeneReviews hcp
originate in the bone marrow. Erythropoietic porphyrias include erythropoietic db key
protoporphyria and congenital erythropoietic porphyria. Health problems GeneReviews porphyria-ct
associated with erythropoietic porphyrias include a low number of red blood db key
cells (anemia) and enlargement of the spleen (splenomegaly). The other types of GeneReviews porphyria-var
porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and db key
porphyrin precursors originate primarily in the liver, leading to abnormal ICD-10-CM E80.0
liver function and an increased risk of developing liver cancer. db key
html:p Environmental factors can strongly influence the occurrence and severity of ICD-10-CM E80.1
signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, db key
other illnesses, stress, and dieting or periods without food (fasting) can all ICD-10-CM E80.2
trigger the signs and symptoms of some forms of the disorder. Additionally, db key
exposure to sunlight worsens the skin damage in people with cutaneous ICD-10-CM E80.20
porphyrias. db key
ICD-10-CM E80.21
db key
ICD-10-CM E80.29
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MeSH D011164
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OMIM 121300
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OMIM 125270
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OMIM 176000
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OMIM 176100
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OMIM 176200
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OMIM 177000
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OMIM 263700
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OMIM 300752
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Orphanet 738
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SNOMED CT 22935002
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SNOMED CT 234422006
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SNOMED CT 238056003
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SNOMED CT 276262000
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SNOMED CT 276263005
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SNOMED CT 276265003
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SNOMED CT 418470004
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SNOMED CT 44574006
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SNOMED CT 51022005
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SNOMED CT 58275005
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SNOMED CT 7425008
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related-gene-list SNOMED CT 84816006
Potassium-aggravated myotonia https://ghr.nlm.nih.gov/condition/potassium-aggravated-myotonia This condition appears to be rare; it has been reported in only a few html:p Potassium-aggravated myotonia is a disorder that affects muscles used for ad autosomal dominant SCN4A https://ghr.nlm.nih.gov/gene/SCN4A PAM db key 2007-04 2017-12-29
鉀加重肌強直 individuals and families worldwide. movement (skeletal muscles). Beginning in childhood or adolescence, people with sodium channel myotonia GTR C0752355
this condition experience bouts of sustained muscle tensing (myotonia) that db key
prevent muscles from relaxing normally. Myotonia causes muscle stiffness that MeSH D020967
worsens after exercise and may be aggravated by eating potassium-rich foods such db key
as bananas and potatoes. Stiffness occurs in skeletal muscles throughout the OMIM 608390
body. Potassium-aggravated myotonia ranges in severity from mild episodes of db key
muscle stiffness to severe, disabling disease with frequent attacks. Unlike some Orphanet 612
other forms of myotonia, potassium-aggravated myotonia is not associated with db key
episodes of muscle weakness. SNOMED CT 702355008
related-gene-list
Potocki-Lupski syndrome https://ghr.nlm.nih.gov/condition/potocki-lupski-syndrome Potocki-Lupski syndrome affects an estimated 1 in 25,000 people worldwide. html:p Potocki-Lupski syndrome is a condition that results from having an extra copy ad autosomal dominant RAI1 https://ghr.nlm.nih.gov/gene/RAI1 17p11.2 duplication syndrome db key 2017-10 2017-12-29
Potocki-Lupski綜合徵 More than 50 affected individuals have been described in the medical literature. (duplication) of a small piece of chromosome 17 in each cell. The duplication related-chromosome name ghr-page 17p11.2 microduplication syndrome GTR C1970482
occurs on the short (p) arm of the chromosome at a position designated p11.2. 17 https://ghr.nlm.nih.gov/chromosome/17 chromosome 17p11.2 duplication syndrome db key
This condition is also known as 17p11.2 duplication syndrome. dup(17)(p11.2p11.2) GeneReviews potocki-lupski
html:p Infants with Potocki-Lupski syndrome may have weak muscle tone (hypotonia) and duplication 17p11.2 syndrome db key
swallowing difficulties (dysphagia) that lead to feeding problems. Some affected PLS MeSH D002658
babies do not grow and gain weight at the expected rate (described as failure PTLS db key
to thrive), and children with this condition tend to be shorter and weigh less MeSH D008607
than their peers. About 40 percent of babies with Potocki-Lupski syndrome are db key
born with a heart defect, which in some cases is life-threatening. MeSH D058674
html:p Babies and children with Potocki-Lupski syndrome have delayed development, db key
including delayed speech and language skills and gross motor skills such OMIM 610883
sitting, standing, and walking. As they get older, affected individuals have db key
intellectual disability, which is usually mild to moderate, and ongoing Orphanet 1713
difficulties with speech. Potocki-Lupski syndrome is also associated with
behavioral problems, which can include attention problems, hyperactivity,
compulsive or impulsive behaviors, and anxiety. Many people with this condition
have features of autism spectrum disorder, which affects social interaction and
communication.
html:p Other signs and symptoms of Potocki-Lupski syndrome can include vision and
hearing problems, dental and skeletal abnormalities, and abnormal kidney
development and function. Many affected individuals have problems with sleep,
including short pauses in breathing during sleep (sleep apnea) and trouble
falling asleep and staying asleep. The condition can also have subtle
differences in facial features, including outside corners of the eyes that point
downward (down-slanting palpebral fissures), a triangular face with a broad
forehead and a small jaw (micrognathia), and widely spaced eyes (hypertelorism).
related-gene-list
Potocki-Shaffer syndrome https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome Potocki-Shaffer syndrome is a rare condition, although its prevalence is html:p Potocki-Shaffer syndrome is a disorder that affects development of the bones, ad autosomal dominant ALX4 https://ghr.nlm.nih.gov/gene/ALX4 chromosome 11p11.2 deletion syndrome db key 2016-05 2017-12-29
Potocki-Shaffer綜合徵 unknown. Fewer than 100 cases have been reported in the scientific literature. nerve cells in the brain, and other tissues. Most people with this condition related-gene gene-symbol ghr-page P11pDS GTR C1832588
have multiple noncancerous (benign) bone tumors called osteochondromas. In rare EXT2 https://ghr.nlm.nih.gov/gene/EXT2 proximal 11p deletion syndrome db key
instances, these tumors become cancerous. People with Potocki-Shaffer syndrome related-gene gene-symbol ghr-page MeSH D025063
also have enlarged openings in the two bones that make up much of the top and PHF21A https://ghr.nlm.nih.gov/gene/PHF21A db key
sides of the skull (enlarged parietal foramina). These abnormal openings form related-chromosome name ghr-page OMIM 601224
extra "soft spots" on the head, in addition to the two that newborns normally 11 https://ghr.nlm.nih.gov/chromosome/11 db key
have. Unlike the usual newborn soft spots, the enlarged parietal foramina remain Orphanet 52022
open throughout life. db key
html:p The signs and symptoms of Potocki-Shaffer syndrome vary widely. In addition to Orphanet 60015
multiple osteochondromas and enlarged parietal foramina, affected individuals db key
often have intellectual disability and delayed development of speech, motor SNOMED CT 702346005
skills (such as sitting and walking), and social skills. Many people with this
condition have distinctive facial features, which can include a wide, short
skull (brachycephaly); a prominent forehead; a narrow bridge of the nose; a
shortened distance between the nose and upper lip (a short philtrum); and a
downturned mouth. Less commonly, Potocki-Shaffer syndrome causes vision
problems, additional skeletal abnormalities, and defects in the heart, kidneys,
and urinary tract.
related-gene-list
PPM-X syndrome https://ghr.nlm.nih.gov/condition/ppm-x-syndrome The prevalence of PPM-X syndrome is unknown. html:p PPM-X syndrome is a condition characterized by psychotic disorders (most xd X-linked dominant MECP2 https://ghr.nlm.nih.gov/gene/MECP2 PPMX db key 2011-10 2017-12-29
commonly bipolar disorder), a pattern of movement abnormalities known as GTR C0035372
parkinsonism, and mild to severe intellectual disability. Other symptoms include db key
increased muscle tone and exaggerated reflexes. Affected males may have GeneReviews rett
enlarged testes (macro-orchidism). Not all affected individuals have all these db key
symptoms, but most have intellectual disability. Males with this condition are MeSH D038901
typically more severely affected than females, who usually have only mild db key
intellectual disability. OMIM 300055
db key
Orphanet 3077
db key
inheritance-pattern-list related-gene-list SNOMED CT 702356009
PPP2R5D-related intellectual disability https://ghr.nlm.nih.gov/condition/ppp2r5d-related-intellectual-disability PPP2R5D-related intellectual disability is a rare disorder. At least 20 html:p html:i ad autosomal dominant ghr-page autosomal dominant mental retardation 35 db-key db key 2017-08 2017-12-29
PPP2R5D相關的智力殘疾 individuals with this condition have been described in the medical literature. PPP2R5D https://ghr.nlm.nih.gov/gene/PPP2R5D GTR C4225354
db-key db key
MeSH D008607
db-key db key
OMIM 616355
-related intellectual disability have an unusually large head size
(macrocephaly), and some have other unusual facial features, including a
prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), and
eyes that slant downward (downslanting palpebral fissures).
related-gene-list
Prader-Willi syndrome https://ghr.nlm.nih.gov/condition/prader-willi-syndrome Prader-Willi syndrome affects an estimated 1 in 10,000 to 30,000 people html:p Prader-Willi syndrome is a complex genetic condition that affects many parts of n not inherited OCA2 https://ghr.nlm.nih.gov/gene/OCA2 Prader-Labhart-Willi syndrome db key 2014-06 2017-12-29
Prader-Willi氏综合症 worldwide. the body. In infancy, this condition is characterized by weak muscle tone related-chromosome name ghr-page PWS GTR C0032897
普瑞德-威利症候群 (hypotonia), feeding difficulties, poor growth, and delayed development. 15 https://ghr.nlm.nih.gov/chromosome/15 Willi-Prader syndrome db key
小胖威利 Beginning in childhood, affected individuals develop an insatiable appetite, GeneReviews pws
which leads to chronic overeating (hyperphagia) and obesity. Some people with db key
Prader-Willi syndrome, particularly those with obesity, also develop type 2 MeSH D011218
diabetes (the most common form of diabetes). db key
html:p People with Prader-Willi syndrome typically have mild to moderate intellectual OMIM 176270
impairment and learning disabilities. Behavioral problems are common, including db key
temper outbursts, stubbornness, and compulsive behavior such as picking at the Orphanet 739
skin. Sleep abnormalities can also occur. Additional features of this condition db key
include distinctive facial features such as a narrow forehead, almond-shaped SNOMED CT 89392001
eyes, and a triangular mouth; short stature; and small hands and feet. Some
people with Prader-Willi syndrome have unusually fair skin and light-colored
hair. Both affected males and affected females have underdeveloped genitals.
Puberty is delayed or incomplete, and most affected individuals are unable to
have children (infertile).
synonym-list db-key-list
Preeclampsia https://ghr.nlm.nih.gov/condition/preeclampsia Preeclampsia is a common condition in all populations, occurring in 5 to 8 html:p Preeclampsia is a complication of pregnancy in which affected women develop high n not inherited synonym pre-eclampsia key 2017-12-29
子癇前症 percent of pregnancies. It occurs more frequently in women of African or blood pressure (hypertension); they can also have abnormally high levels of code memo synonym pregnancy-induced hypertension db-key C0032914
前兆子癇 Hispanic descent than it does in women of European descent. protein in their urine (proteinuria). This condition usually occurs in the last u pattern unknown synonym toxemia of pregnancy key
妊娠毒血症 few months of pregnancy and often requires early delivery of the infant. db-key C1836255
html:p Many women with mild preeclampsia do not feel ill, and the condition is often key
first detected through blood pressure and urine testing in their doctor's db-key C1836256
office. In addition to hypertension and proteinuria, signs and symptoms of key
preeclampsia can include excessive swelling (edema) of the face or hands and a db-key C1836257
weight gain of more than 3 to 5 pounds in a week due to fluid retention. key
Affected women may also experience headaches, dizziness, irritability, shortness db-key C3281288
of breath, a decrease in urination, upper abdominal pain, nausea, or vomiting. key
Vision changes may develop, including flashing lights or spots, increased db-key O11
sensitivity to light (photophobia), blurry vision, or temporary blindness. key
html:p In many cases, symptoms of preeclampsia go away within a few days after the baby db-key O11.1
is born. In severe cases, however, preeclampsia can damage the mother's organs, key
such as the heart, liver, and kidneys, and can lead to life-threatening db-key O11.2
complications. Extremely high blood pressure in the mother can cause bleeding in key
the brain (hemorrhagic stroke). The effects of high blood pressure on the brain db-key O11.3
(hypertensive encephalopathy) may also result in seizures. If seizures occur, key
the condition is considered to have worsened to eclampsia, which can result in db-key O11.9
coma. About 1 in 200 women with untreated preeclampsia develop eclampsia. key
Eclampsia can also develop without any obvious signs of preeclampsia. db-key O14.0
html:p Between 10 and 20 percent of women with severe preeclampsia develop another key
potentially life-threatening complication called HELLP syndrome. HELLP stands db-key O14.00
for hemolysis (premature red blood cell breakdown), elevated liver enzyme key
levels, and low platelets (cell fragments involved in blood clotting), which are db-key O14.1
the key features of this condition. key
html:p Severe preeclampsia can also affect the fetus, with impairment of blood and db-key O14.02
oxygen flow leading to growth problems or stillbirth. Infants delivered early key
due to preeclampsia may have complications associated with prematurity, such as db-key O14.2
breathing problems caused by underdeveloped lungs. key
html:p Women who have had preeclampsia have approximately twice the lifetime risk of db-key O14.03
heart disease and stroke than do women in the general population. Researchers key
suggest that preeclampsia, heart disease, and stroke may share common risk db-key O14.9
factors. Women who have health conditions such as obesity, hypertension, heart key
disease, diabetes, or kidney disease before they become pregnant have an db-key O14.10
increased risk of developing preeclampsia. Preeclampsia is most likely to occur key
in a woman's first pregnancy, although it can occur in subsequent pregnancies, db-key O14.12
particularly in women with other health conditions. key
db-key O14.13
key
db-key O14.20
key
db-key O14.22
key
db-key O14.23
key
db-key O14.90
key
db-key O14.92
key
db-key O14.93
key
db-key D011225
key
db-key 189800
key
db-key 609402
key
db-key 609403
key
db-key 609404
key
db-key 614595
key
db-key 275555
key
related-gene-list 48194001
Prekallikrein deficiency https://ghr.nlm.nih.gov/condition/prekallikrein-deficiency The prevalence of prekallikrein deficiency is unknown. Approximately 80 html:p Prekallikrein deficiency is a blood condition that usually causes no health ar autosomal recessive KLKB1 https://ghr.nlm.nih.gov/gene/KLKB1 congenital prekallikrein deficiency db key 2014-07 2017-12-29
前激肽釋放酶缺乏症 affected individuals in about 30 families have been described in the medical problems. In people with this condition, blood tests show a prolonged activated Fletcher factor deficiency GTR C0272339
literature. Because prekallikrein deficiency usually does not cause any partial thromboplastin time (PTT), a result that is typically associated with Fletcher trait db key
symptoms, researchers suspect that most people with the condition are never bleeding problems; however, bleeding problems generally do not occur in PKK deficiency MeSH D001778
diagnosed. prekallikrein deficiency. The condition is usually discovered when blood tests db key
are done for other reasons. OMIM 612423
html:p A few people with prekallikrein deficiency have experienced health problems db key
related to blood clotting such as heart attack, stroke, a clot in the deep veins Orphanet 749
of the arms or legs (deep vein thrombosis), nosebleeds, or excessive bleeding db key
after surgery. However, these are common problems in the general population, and SNOMED CT 48976006
most affected individuals have other risk factors for developing them, so it is
unclear whether their occurrence is related to prekallikrein deficiency.
inheritance-pattern-list related-gene-list
PRICKLE1-related progressive myoclonus epilepsy with ataxia https://ghr.nlm.nih.gov/condition/prickle1-related-progressive-myoclonus-epileps The prevalence of PRICKLE1-related progressive myoclonus epilepsy with html:p html:i ad autosomal dominant PRICKLE1 synonym db-key db key 2011-12 2017-12-29
PRICKLE1相關的進行性肌陣攣性癲癇伴共濟失調 y-with-ataxia ataxia is unknown. The condition has been reported in three large families from PRICKLE1 inheritance-pattern code memo synonym GTR C2676254
Jordan and northern Israel and in at least two unrelated individuals. ar autosomal recessive synonym db-key db key
The signs and symptoms of this disorder usually begin between the ages of 5 and 10. synonym GeneReviews me-ataxia
html:p Problems with balance and coordination (ataxia) are usually the first symptoms synonym db-key db key
html:i MeSH D020191
PRICKLE1 db-key db key
OMIM 612437
db-key db key
SNOMED CT 702326000
html:p Beginning later in childhood, some affected individuals develop tonic-clonic or
grand mal seizures. These seizures involve a loss of consciousness, muscle
rigidity, and convulsions. They often occur at night (nocturnally) while the
person is sleeping.
html:p Although a few affected individuals have died in childhood, many have lived into adulthood.
related-gene-list
Primary carnitine deficiency https://ghr.nlm.nih.gov/condition/primary-carnitine-deficiency The incidence of primary carnitine deficiency in the general population is html:p Primary carnitine deficiency is a condition that prevents the body from using ar autosomal recessive SLC22A5 https://ghr.nlm.nih.gov/gene/SLC22A5 carnitine transporter deficiency db key 2014-09 2017-12-29
原發性肉鹼缺乏症 approximately 1 in 100,000 newborns. In Japan, this disorder affects 1 in every certain fats for energy, particularly during periods without food (fasting). carnitine uptake defect GTR C0342788
carnitine transporter defect 40,000 newborns. Carnitine, a natural substance acquired mostly through the diet, is used by carnitine uptake deficiency db key
肉鹼吸收障礙 (原發性肉鹼缺乏症) cells to process fats and produce energy. CUD GeneReviews cdsp
html:p Signs and symptoms of primary carnitine deficiency typically appear during renal carnitine transport defect db key
infancy or early childhood and can include severe brain dysfunction systemic carnitine deficiency ICD-10-CM E71.41
(encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, db key
vomiting, muscle weakness, and low blood sugar (hypoglycemia). The severity of MeSH D008052
this condition varies among affected individuals. Some people with primary db key
carnitine deficiency are asymptomatic, which means they do not have any signs or OMIM 212140
symptoms of the condition. All individuals with this disorder are at risk for db key
heart failure, liver problems, coma, and sudden death. Orphanet 158
html:p Problems related to primary carnitine deficiency can be triggered by periods of db key
fasting or by illnesses such as viral infections. This disorder is sometimes SNOMED CT 21764004
mistaken for Reye syndrome, a severe disorder that may develop in children while
they appear to be recovering from viral infections such as chicken pox or flu.
Most cases of Reye syndrome are associated with the use of aspirin during these
viral infections.
related-gene-list
Primary ciliary dyskinesia https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals. html:p Primary ciliary dyskinesia is a disorder characterized by chronic respiratory ar autosomal recessive ARMC4 https://ghr.nlm.nih.gov/gene/ARMC4 immotile cilia syndrome db key 2014-04 2017-12-29
先天性纖毛運動異常 tract infections, abnormally positioned internal organs, and the inability to related-gene gene-symbol ghr-page PCD GTR C0008780
have children (infertility). The signs and symptoms of this condition are caused C21orf59 https://ghr.nlm.nih.gov/gene/C21orf59 db key
by abnormal cilia and flagella. Cilia are microscopic, finger-like projections related-gene gene-symbol ghr-page GTR C0022521
that stick out from the surface of cells. They are found in the linings of the CCDC39 https://ghr.nlm.nih.gov/gene/CCDC39 db key
airway, the reproductive system, and other organs and tissues. Flagella are related-gene gene-symbol ghr-page GTR C1837615
tail-like structures, similar to cilia, that propel sperm cells forward. CCDC40 https://ghr.nlm.nih.gov/gene/CCDC40 db key
html:p In the respiratory tract, cilia move back and forth in a coordinated way to move related-gene gene-symbol ghr-page GTR C1837616
mucus towards the throat. This movement of mucus helps to eliminate fluid, CCDC65 https://ghr.nlm.nih.gov/gene/CCDC65 db key
bacteria, and particles from the lungs. Most babies with primary ciliary related-gene gene-symbol ghr-page GTR C1837618
dyskinesia experience breathing problems at birth, which suggests that cilia CCDC103 https://ghr.nlm.nih.gov/gene/CCDC103 db key
play an important role in clearing fetal fluid from the lungs. Beginning in related-gene gene-symbol ghr-page GTR C1847554
early childhood, affected individuals develop frequent respiratory tract CCDC114 https://ghr.nlm.nih.gov/gene/CCDC114 db key
infections. Without properly functioning cilia in the airway, bacteria remain in related-gene gene-symbol ghr-page GTR C1970506
the respiratory tract and cause infection. People with primary ciliary DNAAF1 https://ghr.nlm.nih.gov/gene/DNAAF1 db key
dyskinesia also have year-round nasal congestion and a chronic cough. Chronic related-gene gene-symbol ghr-page GTR C2675228
respiratory tract infections can result in a condition called bronchiectasis, DNAAF2 https://ghr.nlm.nih.gov/gene/DNAAF2 db key
which damages the passages, called bronchi, leading from the windpipe to the related-gene gene-symbol ghr-page GTR C2675229
lungs and can cause life-threatening breathing problems. DNAAF3 https://ghr.nlm.nih.gov/gene/DNAAF3 db key
html:p Some individuals with primary ciliary dyskinesia have abnormally placed organs related-gene gene-symbol ghr-page GTR C2675867
within their chest and abdomen. These abnormalities arise early in embryonic DNAAF4 https://ghr.nlm.nih.gov/gene/DNAAF4 db key
development when the differences between the left and right sides of the body related-gene gene-symbol ghr-page GTR C2676235
are established. About 50 percent of people with primary ciliary dyskinesia have DNAAF5 https://ghr.nlm.nih.gov/gene/DNAAF5 db key
a mirror-image reversal of their internal organs (situs inversus totalis). For related-gene gene-symbol ghr-page GTR C2677085
example, in these individuals the heart is on the right side of the body instead DNAH5 https://ghr.nlm.nih.gov/gene/DNAH5 db key
of on the left. Situs inversus totalis does not cause any apparent health related-gene gene-symbol ghr-page GTR C2678473
problems. When someone with primary ciliary dyskinesia has situs inversus DNAH8 https://ghr.nlm.nih.gov/gene/DNAH8 db key
totalis, they are often said to have Kartagener syndrome. related-gene gene-symbol ghr-page GTR C2750790
html:p Approximately 12 percent of people with primary ciliary dyskinesia have a DNAH11 https://ghr.nlm.nih.gov/gene/DNAH11 db key
condition known as heterotaxy syndrome or situs ambiguus, which is characterized related-gene gene-symbol ghr-page GTR C3151136
by abnormalities of the heart, liver, intestines, or spleen. These organs may DNAI1 https://ghr.nlm.nih.gov/gene/DNAI1 db key
be structurally abnormal or improperly positioned. In addition, affected related-gene gene-symbol ghr-page GTR C3151137
individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). DNAI2 https://ghr.nlm.nih.gov/gene/DNAI2 db key
Heterotaxy syndrome results from problems establishing the left and right sides related-gene gene-symbol ghr-page GTR C3151460
of the body during embryonic development. The severity of heterotaxy varies DNAL1 https://ghr.nlm.nih.gov/gene/DNAL1 db key
widely among affected individuals. related-gene gene-symbol ghr-page GTR C3542550
html:p Primary ciliary dyskinesia can also lead to infertility. Vigorous movements of DRC1 https://ghr.nlm.nih.gov/gene/DRC1 db key
the flagella are necessary to propel the sperm cells forward to the female egg related-gene gene-symbol ghr-page GeneReviews pcd
cell. Because their sperm do not move properly, males with primary ciliary HYDIN https://ghr.nlm.nih.gov/gene/HYDIN db key
dyskinesia are usually unable to father children. Infertility occurs in some related-gene gene-symbol ghr-page MeSH D002925
affected females and is likely due to abnormal cilia in the fallopian tubes. LRRC6 https://ghr.nlm.nih.gov/gene/LRRC6 db key
html:p Another feature of primary ciliary dyskinesia is recurrent ear infections related-gene gene-symbol ghr-page OMIM 244400
(otitis media), especially in young children. Otitis media can lead to permanent NME8 https://ghr.nlm.nih.gov/gene/NME8 db key
hearing loss if untreated. The ear infections are likely related to abnormal related-gene gene-symbol ghr-page OMIM 606763
cilia within the inner ear. OFD1 https://ghr.nlm.nih.gov/gene/OFD1 db key
html:p Rarely, individuals with primary ciliary dyskinesia have an accumulation of related-gene gene-symbol ghr-page OMIM 608644
fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain. RPGR https://ghr.nlm.nih.gov/gene/RPGR db key
related-gene gene-symbol ghr-page OMIM 608646
RSPH1 https://ghr.nlm.nih.gov/gene/RSPH1 db key
related-gene gene-symbol ghr-page OMIM 608647
RSPH4A https://ghr.nlm.nih.gov/gene/RSPH4A db key
related-gene gene-symbol ghr-page OMIM 610852
RSPH9 https://ghr.nlm.nih.gov/gene/RSPH9 db key
related-gene gene-symbol ghr-page OMIM 611884
SPAG1 https://ghr.nlm.nih.gov/gene/SPAG1 db key
related-gene gene-symbol ghr-page OMIM 612274
ZMYND10 https://ghr.nlm.nih.gov/gene/ZMYND10 db key
OMIM 612444
db key
OMIM 612518
db key
OMIM 612649
db key
OMIM 612650
db key
OMIM 613193
db key
OMIM 613807
db key
OMIM 613808
db key
Orphanet 244
db key
SNOMED CT 42402006
db key
related-gene-list SNOMED CT 86204009
Primary coenzyme Q10 deficiency https://ghr.nlm.nih.gov/condition/primary-coenzyme-q10-deficiency The prevalence of primary coenzyme Q10 deficiency is thought to be less html:p Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the ar autosomal recessive COQ2 https://ghr.nlm.nih.gov/gene/COQ2 coenzyme Q deficiency db key 2017-04 2017-12-29
原輔酶Q10缺乏症 than 1 in 100,000 people. body, especially the brain, muscles, and kidneys. As its name suggests, the related-gene gene-symbol ghr-page CoQ deficiency GeneReviews coq10-def
disorder involves a shortage (deficiency) of a substance called coenzyme Q10. COQ4 https://ghr.nlm.nih.gov/gene/COQ4 primary CoQ10 deficiency db key
html:p The severity, combination of signs and symptoms, and age of onset of primary related-gene gene-symbol ghr-page ubiquinone deficiency MeSH D017237
coenzyme Q10 deficiency vary widely. In the most severe cases, the condition COQ6 https://ghr.nlm.nih.gov/gene/COQ6 db key
becomes apparent in infancy and causes severe brain dysfunction combined with related-gene gene-symbol ghr-page OMIM 607426
muscle weakness (encephalomyopathy) and the failure of other body systems. These COQ7 https://ghr.nlm.nih.gov/gene/COQ7 db key
problems can be life-threatening. The mildest cases of primary coenzyme Q10 related-gene gene-symbol ghr-page OMIM 612016
deficiency can begin as late as a person's sixties and often cause cerebellar COQ8A https://ghr.nlm.nih.gov/gene/COQ8A db key
ataxia, which refers to problems with coordination and balance due to defects in related-gene gene-symbol ghr-page OMIM 614650
the part of the brain that is involved in coordinating movement (cerebellum). COQ8B https://ghr.nlm.nih.gov/gene/COQ8B db key
Other neurological abnormalities that can occur in primary coenzyme Q10 related-gene gene-symbol ghr-page OMIM 614651
deficiency include seizures, intellectual disability, poor muscle tone COQ9 https://ghr.nlm.nih.gov/gene/COQ9 db key
(hypotonia), involuntary muscle contractions (dystonia), progressive muscle related-gene gene-symbol ghr-page OMIM 614652
stiffness (spasticity), abnormal eye movements (nystagmus), vision loss caused PDSS1 https://ghr.nlm.nih.gov/gene/PDSS1 db key
by degeneration (atrophy) of the optic nerves or breakdown of the light-sensing related-gene gene-symbol ghr-page OMIM 614654
tissue at the back of the eyes (retinopathy), and sensorineural hearing loss PDSS2 https://ghr.nlm.nih.gov/gene/PDSS2 db key
(which is caused by abnormalities in the inner ear). The neurological problems OMIM 615573
gradually get worse unless treated with coenzyme Q10 supplementation. db key
html:p A type of kidney dysfunction called nephrotic syndrome is another common feature OMIM 616276
of primary coenzyme Q10 deficiency. It can occur with or without neurological db key
abnormalities. Nephrotic syndrome occurs when damage to the kidneys impairs OMIM 616276
their function, which allows protein from the blood to pass into the urine db key
(proteinuria). Other signs and symptoms of nephrotic syndrome include increased OMIM 616733
cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in db key
the abdominal cavity (ascites), and swelling (edema). Affected individuals may Orphanet 139485
also have blood in the urine (hematuria), which can lead to a reduced number of
red blood cells in the body (anemia), abnormal blood clotting, or reduced
amounts of certain white blood cells. Low white blood cell counts can lead to a
weakened immune system and frequent infections in people with nephrotic
syndrome. If not treated with coenzyme Q10 supplementation, affected individuals
eventually develop irreversible kidney failure (end-stage renal disease).
html:p A type of heart disease that enlarges and weakens the heart muscle (hypertrophic
cardiomyopathy) can also occur in primary coenzyme Q10 deficiency.
Primary Familial Brain Calcification
原發性家族性腦鈣化
related-gene-list
Primary hyperoxaluria https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals html:p Primary hyperoxaluria is a rare condition characterized by recurrent kidney and ar autosomal recessive AGXT https://ghr.nlm.nih.gov/gene/AGXT congenital oxaluria db key 2015-12 2017-12-29
原發性高草酸尿症 worldwide. Type 1 is the most common form, accounting for approximately 80 bladder stones. The condition often results in end stage renal disease (ESRD), related-gene gene-symbol ghr-page D-glycerate dehydrogenase deficiency GTR C0020500
percent of cases. Types 2 and 3 each account for about 10 percent of cases. which is a life-threatening condition that prevents the kidneys from filtering GRHPR https://ghr.nlm.nih.gov/gene/GRHPR glyceric aciduria db key
fluids and waste products from the body effectively. related-gene gene-symbol ghr-page glycolic aciduria GTR C0020501
html:p Primary hyperoxaluria results from the overproduction of a substance called HOGA1 https://ghr.nlm.nih.gov/gene/HOGA1 hepatic AGT deficiency db key
oxalate. Oxalate is filtered through the kidneys and excreted as a waste product hyperoxaluria, primary GTR C0268164
in urine, leading to abnormally high levels of this substance in urine oxalosis db key
(hyperoxaluria). During its excretion, oxalate can combine with calcium to form oxaluria, primary GTR C0268165
calcium oxalate, a hard compound that is the main component of kidney and peroxisomal alanine:glyoxylate aminotransferase deficiency db key
bladder stones. Deposits of calcium oxalate can damage the kidneys and other primary oxalosis GTR C3150878
organs and lead to blood in the urine (hematuria), urinary tract infections, primary oxaluria db key
kidney damage, ESRD, and injury to other organs. Over time, kidney function GeneReviews ph1
decreases such that the kidneys can no longer excrete as much oxalate as they db key
receive. As a result oxalate levels in the blood rise, and the substance gets GeneReviews ph2
deposited in tissues throughout the body (systemic oxalosis), particularly in db key
bones and the walls of blood vessels. Oxalosis in bones can cause fractures. GeneReviews ph3
html:p There are three types of primary hyperoxaluria that differ in their severity and db key
genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin ICD-10-CM E72.53
to appear anytime from childhood to early adulthood, and ESRD can develop at any db key
age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later MeSH D006960
in life. In primary hyperoxaluria type 3, affected individuals often develop db key
kidney stones in early childhood, but few cases of this type have been described OMIM 259900
so additional signs and symptoms of this type are unclear. db key
OMIM 260000
db key
OMIM 613616
db key
Orphanet 93598
db key
Orphanet 93599
db key
Orphanet 93600
db key
SNOMED CT 17901006
db key
SNOMED CT 373607009
db key
SNOMED CT 40951006
db key
related-gene-list SNOMED CT 65520001
Primary localized cutaneous amyloidosis https://ghr.nlm.nih.gov/condition/primary-localized-cutaneous-amyloidosis PLCA occurs worldwide, most commonly in Southeast Asia and South America. html:p Primary localized cutaneous amyloidosis (PLCA) is a condition in which clumps of ad autosomal dominant IL31RA https://ghr.nlm.nih.gov/gene/IL31RA amyloidosis IX db key 2017-03 2017-12-29
原发性局限性皮肤淀粉样变性 The prevalence of the condition is unknown. abnormal proteins called amyloids build up in the skin, specifically in the code memo related-gene gene-symbol ghr-page PLCA GTR C0268398
wave-like projections (dermal papillae) between the top two layers of skin (the ar autosomal recessive OSMR https://ghr.nlm.nih.gov/gene/OSMR primary cutaneous amyloidosis db key
dermis and the epidermis). The primary feature of PLCA is patches of skin with code memo GTR C3151404
abnormal texture or color. The appearance of these patches defines three forms n not inherited db key
of the condition: lichen amyloidosis, macular amyloidosis, and nodular MeSH D000686
amyloidosis. db key
html:p Lichen amyloidosis is characterized by severely itchy patches of thickened skin OMIM 105250
with multiple small bumps. The patches are scaly and reddish brown in color. db key
These patches usually occur on the shins but can also occur on the forearms, OMIM 613955
other parts of the legs, and elsewhere on the body. db key
html:p In macular amyloidosis, the patches are flat and dark brown. The coloring can Orphanet 353220
have a lacy (reticulated) or rippled appearance, although it is often uniform. db key
Macular amyloidosis patches are most commonly found on the upper back, but they SNOMED CT 282834007
can also occur on other parts of the torso or on the limbs. These patches are
mildly itchy.
html:p Nodular amyloidosis is characterized by firm, raised bumps (nodules) that are
pink, red, or brown. These nodules often occur on the face, torso, limbs, or
genitals and are typically not itchy.
html:p In some affected individuals, the patches have characteristics of both lichen
and macular amyloidosis. These cases are called biphasic amyloidosis.
html:p In all forms of PLCA, the abnormal patches of skin usually arise in
mid-adulthood. They can remain for months to years and may recur after
disappearing, either at the same location or elsewhere. Very rarely, nodular
amyloidosis progresses to a life-threatening condition called systemic
amyloidosis, in which amyloid deposits accumulate in tissues and organs
throughout the body.
related-gene-list
Primary macronodular adrenal hyperplasia https://ghr.nlm.nih.gov/condition/primary-macronodular-adrenal-hyperplasia PMAH is a rare disorder. It is present in less than 1 percent of cases of html:p Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by ad autosomal dominant APC https://ghr.nlm.nih.gov/gene/APC ACTH-independent macronodular adrenal hyperplasia db key 2015-05 2017-12-29
原发性大结节肾上腺增生 endogenous Cushing syndrome, which describes forms of Cushing syndrome caused by multiple lumps (nodules) in the adrenal glands, which are small code memo related-gene gene-symbol ghr-page ACTH-independent macronodular adrenocortical hyperplasia GTR C4014803
factors internal to the body rather than by external factors such as long-term hormone-producing glands located on top of each kidney. These nodules, which n not inherited ARMC5 https://ghr.nlm.nih.gov/gene/ARMC5 adrenal Cushing syndrome due to AIMAH db key
use of certain medicines called corticosteroids. The prevalence of endogenous usually are found in both adrenal glands (bilateral) and vary in size, cause related-gene gene-symbol ghr-page adrenocorticotropic hormone-independent macronodular adrenal hyperplasia MeSH D003480
Cushing syndrome is about 1 in 26,000 people. adrenal gland enlargement (hyperplasia) and result in the production of FH https://ghr.nlm.nih.gov/gene/FH AIMAH db key
higher-than-normal levels of the hormone cortisol. Cortisol is an important related-gene gene-symbol ghr-page corticotropin-independent macronodular adrenal hyperplasia OMIM 219080
hormone that suppresses inflammation and protects the body from physical stress GNAS https://ghr.nlm.nih.gov/gene/GNAS PMAH db key
such as infection or trauma through several mechanisms including raising blood related-gene gene-symbol ghr-page primary bilateral macronodular adrenal hyperplasia OMIM 615954
sugar levels. MC2R https://ghr.nlm.nih.gov/gene/MC2R db key
html:p PMAH typically becomes evident in a person's forties or fifties. It is related-gene gene-symbol ghr-page Orphanet 189427
considered a form of Cushing syndrome, which is characterized by increased MEN1 https://ghr.nlm.nih.gov/gene/MEN1 db key
levels of cortisol resulting from one of many possible causes. These increased related-gene gene-symbol ghr-page SNOMED CT 237778003
cortisol levels lead to weight gain in the face and upper body, fragile skin, PDE11A https://ghr.nlm.nih.gov/gene/PDE11A
bone loss, fatigue, and other health problems. However, some people with PMAH do
not experience these signs and symptoms and are said to have subclinical
Cushing syndrome.
related-gene-list
Primary myelofibrosis https://ghr.nlm.nih.gov/condition/primary-myelofibrosis Primary myelofibrosis is a rare condition that affects approximately 1 in html:p Primary myelofibrosis is a condition characterized by the buildup of scar tissue n not inherited CALR https://ghr.nlm.nih.gov/gene/CALR agnogenic myeloid metaplasia db key 2014-09 2017-12-29
原發性骨髓纖維化 500,000 people worldwide. (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of related-gene gene-symbol ghr-page chronic idiopathic myelofibrosis GTR C0001815
the fibrosis, the bone marrow is unable to make enough normal blood cells. The IDH1 https://ghr.nlm.nih.gov/gene/IDH1 idiopathic myelofibrosis db key
shortage of blood cells causes many of the signs and symptoms of primary related-gene gene-symbol ghr-page myelofibrosis with myeloid metaplasia MeSH D055728
myelofibrosis. IDH2 https://ghr.nlm.nih.gov/gene/IDH2 myeloid metaplasia db key
html:p Initially, most people with primary myelofibrosis have no signs or symptoms. related-gene gene-symbol ghr-page OMIM 254450
Eventually, fibrosis can lead to a reduction in the number of red blood cells, JAK2 https://ghr.nlm.nih.gov/gene/JAK2 db key
white blood cells, and platelets. A shortage of red blood cells (anemia) often related-gene gene-symbol ghr-page Orphanet 824
causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood MPL https://ghr.nlm.nih.gov/gene/MPL db key
cells can lead to an increased number of infections, and a reduction of related-gene gene-symbol ghr-page SNOMED CT 128843003
platelets can cause easy bleeding or bruising. TET2 https://ghr.nlm.nih.gov/gene/TET2 db key
html:p Because blood cell formation (hematopoiesis) in the bone marrow is disrupted, SNOMED CT 307651005
other organs such as the spleen or liver may begin to produce blood cells. This db key
process, called extramedullary hematopoiesis, often leads to an enlarged spleen SNOMED CT 443230004
(splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may db key
feel pain or fullness in the abdomen, especially below the ribs on the left SNOMED CT 52967002
side. Other common signs and symptoms of primary myelofibrosis include fever,
night sweats, and bone pain.
html:p Primary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can
occur at any age.
Primary Paget disease
原發性變形性骨炎
Primary Pulmonary hemosiderosis
原發性肺血鐵質沉積症
Primary Pulmonary Hypertension, PPH
原發性肺動脈高壓症
synonym-list db-key-list
Primary sclerosing cholangitis https://ghr.nlm.nih.gov/condition/primary-sclerosing-cholangitis An estimated 1 in 10,000 people have primary sclerosing cholangitis, and html:p Primary sclerosing cholangitis is a condition that affects the bile ducts. These u pattern unknown synonym sclerosing cholangitis key 2017-12-29
原發性硬化性膽管炎 the condition is diagnosed in approximately 1 in 100,000 people per year ducts carry bile (a fluid that helps to digest fats) from the liver, where bile db-key C0566602
worldwide. is produced, to the gallbladder, where it is stored, and to the small key
intestine, where it aids in digestion. Primary sclerosing cholangitis occurs db-key D015209
because of inflammation in the bile ducts (cholangitis) that leads to scarring key
(sclerosis) and narrowing of the ducts. As a result, bile cannot be released to db-key 613806
the gallbladder and small intestine, and it builds up in the liver. key
html:p Primary sclerosing cholangitis is usually diagnosed around age 40, and for db-key 171
unknown reasons, it affects men twice as often as women. Many people have no key
signs or symptoms of the condition when they are diagnosed, but routine blood 197441003
tests reveal liver problems. When apparent, the earliest signs and symptoms of
primary sclerosing cholangitis include extreme tiredness (fatigue), discomfort
in the abdomen, and severe itchiness (pruritus). As the condition worsens,
affected individuals may develop yellowing of the skin and whites of the eyes
(jaundice) and an enlarged spleen (splenomegaly). Eventually, the buildup of
bile damages the liver cells, causing chronic liver disease (cirrhosis) and
liver failure. Without bile available to digest them, fats pass through the
body. As a result, weight loss and shortages of vitamins that are absorbed with
and stored in fats (fat-soluble vitamins) can occur. A fat-soluble vitamin
called vitamin D helps absorb calcium and helps bones harden, and lack of this
vitamin can cause thinning of the bones (osteoporosis) in people with primary
sclerosing cholangitis.
html:p Primary sclerosing cholangitis is often associated with another condition called
inflammatory bowel disease, which is characterized by inflammation of the
intestines that causes open sores (ulcers) in the intestines and abdominal pain.
However, the reason for this link is unclear. Approximately 70 percent of
people with primary sclerosing cholangitis have inflammatory bowel disease, most
commonly a form of the condition known as ulcerative colitis. In addition,
people with primary sclerosing cholangitis are more likely to have an autoimmune
disorder, such as type 1 diabetes, celiac disease, or thyroid disease, than
people without the condition. Autoimmune disorders occur when the immune system
malfunctions and attacks the body's tissues and organs. People with primary
sclerosing cholangitis also have an increased risk of developing cancer,
particularly cancer of the bile ducts (cholangiocarcinoma).
related-gene-list
Primary spontaneous pneumothorax https://ghr.nlm.nih.gov/condition/primary-spontaneous-pneumothorax Primary spontaneous pneumothorax is more common in men than in women. This html:p Primary spontaneous pneumothorax is an abnormal accumulation of air in the space ad autosomal dominant FLCN https://ghr.nlm.nih.gov/gene/FLCN pneumothorax db key 2016-11 2017-12-29
原發性自發性氣胸 condition occurs in 7.4 to 18 per 100,000 men each year and 1.2 to 6 per 100,000 between the lungs and the chest cavity (called the pleural space) that can PSP GTR C1868193
women each year. result in the partial or complete collapse of a lung. This type of pneumothorax spontaneous pneumothorax db key
is described as primary because it occurs in the absence of lung disease such as ICD-10-CM J93.11
emphysema. Spontaneous means the pneumothorax was not caused by an injury such db key
as a rib fracture. Primary spontaneous pneumothorax is likely due to the MeSH D011030
formation of small sacs of air (blebs) in lung tissue that rupture, causing air db key
to leak into the pleural space. Air in the pleural space creates pressure on the OMIM 173600
lung and can lead to its collapse. A person with this condition may feel chest db key
pain on the side of the collapsed lung and shortness of breath. Orphanet 2903
html:p Blebs may be present on an individual's lung (or lungs) for a long time before db key
they rupture. Many things can cause a bleb to rupture, such as changes in air SNOMED CT 3.3E+14
pressure or a very sudden deep breath. Often, people who experience a primary
spontaneous pneumothorax have no prior sign of illness; the blebs themselves
typically do not cause any symptoms and are visible only on medical imaging.
Affected individuals may have one bleb to more than thirty blebs. Once a bleb
ruptures and causes a pneumothorax, there is an estimated 13 to 60 percent
chance that the condition will recur.
related-gene-list
Prion disease https://ghr.nlm.nih.gov/condition/prion-disease These disorders are very rare. Although the exact prevalence of prion html:p Prion disease represents a group of conditions that affect the nervous system in ad autosomal dominant PRNP https://ghr.nlm.nih.gov/gene/PRNP inherited human transmissible spongiform encephalopathies db key 2014-01 2017-12-29
朊病毒疾病 disease is unknown, studies suggest that this group of conditions affects about humans and animals. In people, these conditions impair brain function, causing prion-associated disorders GTR C0017495
one person per million worldwide each year. Approximately 350 new cases are changes in memory, personality, and behavior; a decline in intellectual function prion-induced disorders db key
reported annually in the United States. (dementia); and abnormal movements, particularly difficulty with coordinating prion protein diseases GTR C0022336
movements (ataxia). The signs and symptoms of prion disease typically begin in transmissible dementias db key
adulthood and worsen with time, leading to death within a few months to several transmissible spongiform encephalopathies GTR C0162534
years. TSEs db key
GTR C0206042
db key
GTR C1855588
db key
GeneReviews prion
db key
ICD-10-CM A81.0
db key
ICD-10-CM A81.00
db key
ICD-10-CM A81.01
db key
ICD-10-CM A81.09
db key
ICD-10-CM A81.81
db key
ICD-10-CM A81.82
db key
ICD-10-CM A81.83
db key
MeSH D017096
db key
OMIM 123400
db key
OMIM 137440
db key
OMIM 245300
db key
OMIM 600072
db key
Orphanet 204
db key
Orphanet 356
db key
Orphanet 466
db key
Orphanet 56970
db key
SNOMED CT 20484008
db key
SNOMED CT 304603007
db key
SNOMED CT 67155006
db key
Progeria
早老症
related-gene-list SNOMED CT 792004
Progressive external ophthalmoplegia https://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia The prevalence of progressive external ophthalmoplegia is unknown. html:p Progressive external ophthalmoplegia is a condition characterized by weakness of ad autosomal dominant AFG3L2 https://ghr.nlm.nih.gov/gene/AFG3L2 chronic progressive external ophthalmoplegia db key 2016-05 2017-12-29
漸進性外眼肌麻痺 the eye muscles. The condition typically appears in adults between ages 18 and code memo related-gene gene-symbol ghr-page CPEO GTR C0162674
40 and slowly worsens over time. The first sign of progressive external ar autosomal recessive DNA2 https://ghr.nlm.nih.gov/gene/DNA2 PEO db key
ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or code memo related-gene gene-symbol ghr-page GTR C1834846
both eyelids. As ptosis worsens, affected individuals may use the forehead m mitochondrial MT-TI https://ghr.nlm.nih.gov/gene/MT-TI db key
muscles to try to lift the eyelids, or they may lift up their chin in order to related-gene gene-symbol ghr-page GTR C1836439
see. Another characteristic feature of progressive external ophthalmoplegia is MT-TL1 https://ghr.nlm.nih.gov/gene/MT-TL1 db key
weakness or paralysis of the muscles that move the eye (ophthalmoplegia). related-gene gene-symbol ghr-page GTR C1836460
Affected individuals have to turn their head to see in different directions, OPA1 https://ghr.nlm.nih.gov/gene/OPA1 db key
especially as the ophthalmoplegia worsens. People with progressive external related-gene gene-symbol ghr-page GeneReviews alpers
ophthalmoplegia may also have general weakness of the muscles used for movement POLG https://ghr.nlm.nih.gov/gene/POLG db key
(myopathy), particularly those in the neck, arms, or legs. The weakness may be related-gene gene-symbol ghr-page GeneReviews kss
especially noticeable during exercise (exercise intolerance). Muscle weakness POLG2 https://ghr.nlm.nih.gov/gene/POLG2 db key
may also cause difficulty swallowing (dysphagia). related-gene gene-symbol ghr-page GeneReviews rrm2b-mtddepl
html:p When the muscle cells of affected individuals are stained and viewed under a RNASEH1 https://ghr.nlm.nih.gov/gene/RNASEH1 db key
microscope, these cells usually appear abnormal. These abnormal muscle cells related-gene gene-symbol ghr-page ICD-10-CM H49.4
contain an excess of cell structures called mitochondria and are known as RRM2B https://ghr.nlm.nih.gov/gene/RRM2B db key
ragged-red fibers. related-gene gene-symbol ghr-page ICD-10-CM H49.40
html:p Although muscle weakness is the primary symptom of progressive external SLC25A4 https://ghr.nlm.nih.gov/gene/SLC25A4 db key
ophthalmoplegia, this condition can be accompanied by other signs and symptoms. related-gene gene-symbol ghr-page ICD-10-CM H49.41
In these instances, the condition is referred to as progressive external SPG7 https://ghr.nlm.nih.gov/gene/SPG7 db key
ophthalmoplegia plus (PEO+). Additional signs and symptoms can include hearing related-gene gene-symbol ghr-page ICD-10-CM H49.42
loss caused by nerve damage in the inner ear (sensorineural hearing loss), TK2 https://ghr.nlm.nih.gov/gene/TK2 db key
weakness and loss of sensation in the limbs due to nerve damage (neuropathy), related-gene gene-symbol ghr-page ICD-10-CM H49.43
impaired muscle coordination (ataxia), a pattern of movement abnormalities known TWNK https://ghr.nlm.nih.gov/gene/TWNK db key
as parkinsonism, and depression. related-mitochondrial-dna name ghr-page MeSH D017246
html:p Progressive external ophthalmoplegia is part of a spectrum of disorders with mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna db key
overlapping signs and symptoms. Similar disorders include ataxia neuropathy OMIM 157640
spectrum and Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, db key
the other conditions in this spectrum can involve weakness of the eye muscles. OMIM 258450
However, these conditions have many additional features not shared by most db key
people with progressive external ophthalmoplegia. OMIM 609283
db key
OMIM 609286
db key
Orphanet 663
db key
related-gene-list SNOMED CT 46252003
Progressive familial heart block https://ghr.nlm.nih.gov/condition/progressive-familial-heart-block The prevalence of progressive familial heart block is unknown. In the html:p Progressive familial heart block is a genetic condition that alters the normal ad autosomal dominant GJA5 https://ghr.nlm.nih.gov/gene/GJA5 bundle branch block db key 2015-04 2017-12-29
United States, about 1 in 5,000 individuals have complete heart block from any beating of the heart. A normal heartbeat is controlled by electrical signals related-gene gene-symbol ghr-page HBBD GTR C1841658
cause; worldwide, about 1 in 2,500 individuals have complete heart block. that move through the heart in a highly coordinated way. These signals begin in SCN1B https://ghr.nlm.nih.gov/gene/SCN1B hereditary bundle branch defect db key
a specialized cluster of cells called the sinoatrial node (the heart's natural related-gene gene-symbol ghr-page hereditary bundle branch system defect GTR C1879286
pacemaker) located in the heart's upper chambers (the atria). From there, a SCN5A https://ghr.nlm.nih.gov/gene/SCN5A Lenegre Lev disease db key
group of cells called the atrioventricular node carries the electrical signals related-gene gene-symbol ghr-page Lev-Lenègre disease GTR C1970298
to another cluster of cells called the bundle of His. This bundle separates into TRPM4 https://ghr.nlm.nih.gov/gene/TRPM4 Lev syndrome db key
multiple thin spindles called bundle branches, which carry electrical signals Lev's disease ICD-10-CM Q24.6
into the heart's lower chambers (the ventricles). Electrical impulses move from PCCD db key
the sinoatrial node down to the bundle branches, stimulating a normal heartbeat progressive cardiac conduction defect MeSH D006327
in which the ventricles contract slightly later than the atria. db key
html:p Heart block occurs when the electrical signaling is obstructed anywhere from the OMIM 113900
atria to the ventricles. In people with progressive familial heart block, the db key
condition worsens over time: early in the disorder, the electrical signals are OMIM 140400
partially blocked, but the block eventually becomes complete, preventing any db key
signals from passing through the heart. Partial heart block causes a slow or OMIM 604559
irregular heartbeat (bradycardia or arrhythmia, respectively), and can lead to db key
the buildup of scar tissue (fibrosis) in the cells that carry electrical Orphanet 871
impulses. Fibrosis contributes to the development of complete heart block, db key
resulting in uncoordinated electrical signaling between the atria and the SNOMED CT 698249005
ventricles and inefficient pumping of blood in the heart. Complete heart block
can cause a sensation of fluttering or pounding in the chest (palpitations),
shortness of breath, fainting (syncope), or sudden cardiac arrest and death.
html:p Progressive familial heart block can be divided into type I and type II, with
type I being further divided into types IA and IB. These types differ in where
in the heart signaling is interrupted and the genetic cause. In types IA and IB,
the heart block originates in the bundle branch, and in type II, the heart
block originates in the atrioventricular node. The different types of
progressive familial heart block have similar signs and symptoms.
html:p Most cases of heart block are not genetic and are not considered progressive
familial heart block. The most common cause of heart block is fibrosis of the
heart, which occurs as a normal process of aging. Other causes of heart block
can include the use of certain medications or an infection of the heart tissue.
related-gene-list
Progressive familial intrahepatic cholestasis https://ghr.nlm.nih.gov/condition/progressive-familial-intrahepatic-cholestasis PFIC is estimated to affect 1 in 50,000 to 100,000 people worldwide. PFIC html:p Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes ar autosomal recessive ABCB4 https://ghr.nlm.nih.gov/gene/ABCB4 ABCB4-related intrahepatic cholestasis db key 2009-12 2017-12-29
漸進性家族性肝内胆汁滞留症 type 1 is much more common in the Inuit population of Greenland and the Old progressive liver disease, which typically leads to liver failure. In people related-gene gene-symbol ghr-page ABCB11-related intrahepatic cholestasis GTR C0268312
漸進性家族性肝內膽汁滯留症 Order Amish population of the United States. with PFIC, liver cells are less able to secrete a digestive fluid called bile. ABCB11 https://ghr.nlm.nih.gov/gene/ABCB11 ATP8B1-related intrahepatic cholestasis db key
The buildup of bile in liver cells causes liver disease in affected individuals. related-gene gene-symbol ghr-page BSEP deficiency GTR C1865643
html:p Signs and symptoms of PFIC typically begin in infancy and are related to bile ATP8B1 https://ghr.nlm.nih.gov/gene/ATP8B1 Byler disease db key
buildup and liver disease. Specifically, affected individuals experience severe Byler syndrome GTR C1866138
itching, yellowing of the skin and whites of the eyes (jaundice), failure to FIC1 deficiency db key
gain weight and grow at the expected rate (failure to thrive), high blood low γ-GT familial intrahepatic cholestasis GeneReviews pfic
pressure in the vein that supplies blood to the liver (portal hypertension), and MDR3 deficiency db key
an enlarged liver and spleen (hepatosplenomegaly). MeSH D002780
html:p There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are db key
also sometimes described as shortages of particular proteins needed for normal OMIM 211600
liver function. Each type has a different genetic cause. db key
html:p In addition to signs and symptoms related to liver disease, people with PFIC1 OMIM 601847
may have short stature, deafness, diarrhea, inflammation of the pancreas db key
(pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) OMIM 602347
in the blood. Affected individuals typically develop liver failure before db key
adulthood. Orphanet 172
html:p The signs and symptoms of PFIC2 are typically related to liver disease only; db key
however, these signs and symptoms tend to be more severe than those experienced SNOMED CT 74162007
by people with PFIC1. People with PFIC2 often develop liver failure within the
first few years of life. Additionally, affected individuals are at increased
risk of developing a type of liver cancer called hepatocellular carcinoma.
html:p Most people with PFIC3 have signs and symptoms related to liver disease only.
Signs and symptoms of PFIC3 usually do not appear until later in infancy or
early childhood; rarely, people are diagnosed in early adulthood. Liver failure
can occur in childhood or adulthood in people with PFIC3.
Progressive hearing loss
漸進性失聰
related-gene-list
Progressive osseous heteroplasia https://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia Progressive osseous heteroplasia is a rare condition. Its exact incidence html:p Progressive osseous heteroplasia is a disorder in which bone forms within skin ad autosomal dominant GNAS https://ghr.nlm.nih.gov/gene/GNAS cutaneous ossification db key 2009-01 2017-12-29
漸進性骨異形 is unknown. and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic ossification GTR C0334041
ectopic bone. In progressive osseous heteroplasia, ectopic bone formation heterotopic ossification db key
begins in the deep layers of the skin (dermis and subcutaneous fat) and myositis ossificans progressiva GeneReviews gnas-dis
gradually moves into other tissues such as skeletal muscle and tendons. The bony osteodermia db key
lesions within the skin may be painful and may develop into open sores osteoma cutis ICD-10-CM M61.1
(ulcers). Over time, joints can become involved, resulting in impaired mobility. osteosis cutis db key
html:p Signs and symptoms of progressive osseous heteroplasia usually become noticeable POH ICD-10-CM M61.10
during infancy. In some affected individuals, however, this may not occur until db key
later in childhood or in early adulthood. ICD-10-CM M61.11
db key
ICD-10-CM M61.12
db key
ICD-10-CM M61.13
db key
ICD-10-CM M61.14
db key
ICD-10-CM M61.15
db key
ICD-10-CM M61.16
db key
ICD-10-CM M61.17
db key
ICD-10-CM M61.18
db key
ICD-10-CM M61.19
db key
ICD-10-CM M61.111
db key
ICD-10-CM M61.112
db key
ICD-10-CM M61.119
db key
ICD-10-CM M61.121
db key
ICD-10-CM M61.122
db key
ICD-10-CM M61.129
db key
ICD-10-CM M61.131
db key
ICD-10-CM M61.132
db key
ICD-10-CM M61.139
db key
ICD-10-CM M61.141
db key
ICD-10-CM M61.142
db key
ICD-10-CM M61.143
db key
ICD-10-CM M61.144
db key
ICD-10-CM M61.145
db key
ICD-10-CM M61.146
db key
ICD-10-CM M61.151
db key
ICD-10-CM M61.152
db key
ICD-10-CM M61.159
db key
ICD-10-CM M61.161
db key
ICD-10-CM M61.162
db key
ICD-10-CM M61.169
db key
ICD-10-CM M61.171
db key
ICD-10-CM M61.172
db key
ICD-10-CM M61.173
db key
ICD-10-CM M61.174
db key
ICD-10-CM M61.175
db key
ICD-10-CM M61.176
db key
ICD-10-CM M61.177
db key
ICD-10-CM M61.178
db key
ICD-10-CM M61.179
db key
MeSH D009999
db key
OMIM 166350
db key
Orphanet 2762
db key
related-gene-list SNOMED CT 719271000
Progressive pseudorheumatoid dysplasia https://ghr.nlm.nih.gov/condition/progressive-pseudorheumatoid-dysplasia PPRD has been estimated to occur in approximately 1 per million people in html:p Progressive pseudorheumatoid dysplasia (PPRD) is a joint disease that worsens ar autosomal recessive WISP3 https://ghr.nlm.nih.gov/gene/WISP3 progressive pseudorheumatoid arthropathy of childhood db key 2013-04 2017-12-29
漸進性假性類風濕性發育不良 the United Kingdom. The condition is thought to be more common in Turkey and the over time. This condition is characterized by breakdown (degeneration) of the spondyloepiphyseal dysplasia tarda with progressive arthropathy GTR C0432215
Middle East, although its prevalence in these regions is unknown. The condition cartilage between bones (articular cartilage). This cartilage covers and db key
in all regions is likely underdiagnosed because it is often misdiagnosed as protects the ends of bones, and its degeneration leads to pain and stiffness in GeneReviews ppr-dysp
juvenile rheumatoid arthritis. the joints and other features of PPRD. db key
html:p PPRD usually begins in childhood, between ages 3 and 8. The first indications MeSH D010009
are usually an abnormal walking pattern, weakness and fatigue when active, and db key
stiffness in the joints in the fingers and in the knees. Other signs and OMIM 208230
symptoms that develop over time include permanently bent fingers db key
(camptodactyly), enlarged finger and knee joints (often mistaken as swelling), Orphanet 1159
and a reduced amount of space between the bones at the hip and knee joints. Hip db key
pain is a common problem by adolescence. Affected individuals have flattened SNOMED CT 254065005
bones in the spine (platyspondyly) that are abnormally shaped (beaked), which
leads to an abnormal front-to-back curvature of the spine (kyphosis) and a short
torso. At birth, people with PPRD are of normal length, but by adulthood, they
are usually shorter than their peers. Affected adults also have abnormal
deposits of calcium around the elbow, knee, and hip joints and limited movement
in all joints, including those of the spine.
html:p PPRD is often mistaken for another joint disorder that affects young people
called juvenile rheumatoid arthritis. However, the joint problems in juvenile
rheumatoid arthritis are associated with inflammation, while those in PPRD are
not.
related-gene-list
Progressive supranuclear palsy https://ghr.nlm.nih.gov/condition/progressive-supranuclear-palsy The exact prevalence of progressive supranuclear palsy is unknown. It may html:p Progressive supranuclear palsy is a brain disorder that affects movement, ad autosomal dominant MAPT https://ghr.nlm.nih.gov/gene/MAPT progressive supranuclear ophthalmoplegia db key 2015-05 2017-12-29
漸進性核上性麻痺 affect about 6 in 100,000 people worldwide. vision, speech, and thinking ability (cognition). The signs and symptoms of this code memo PSP GTR C0038868
disorder usually become apparent in mid- to late adulthood, most often in a u pattern unknown Richardson's syndrome db key
person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 Steele-Richardson-Olszewski syndrome GTR C1836148
years after the disease first appears, although a few affected individuals have supranuclear palsy, progressive db key
lived for more than a decade. GTR C1970476
html:p Loss of balance and frequent falls are the most common early signs of db key
progressive supranuclear palsy. Affected individuals have problems with walking, GeneReviews ftdp-17
including poor coordination and an unsteady, lurching gait. Other movement db key
abnormalities develop as the disease progresses, including unusually slow ICD-10-CM G23.1
movements (bradykinesia), clumsiness, and stiffness of the trunk muscles. These db key
problems worsen with time, and most affected people ultimately require MeSH D013494
wheelchair assistance. db key
html:p Progressive supranuclear palsy is also characterized by abnormal eye movements, OMIM 601104
which typically develop several years after the other movement problems first db key
appear. Restricted up-and-down eye movement (vertical gaze palsy) is a hallmark OMIM 609454
of this disease. Other eye movement problems include difficulty opening and db key
closing the eyelids, infrequent blinking, and pulling back (retraction) of the OMIM 610898
eyelids. These abnormalities can lead to blurred vision, an increased db key
sensitivity to light (photophobia), and a staring gaze. Orphanet 683
html:p Additional features of progressive supranuclear palsy include slow and slurred db key
speech (dysarthria) and trouble swallowing (dysphagia). Most affected SNOMED CT 28978003
individuals also experience changes in personality and behavior, such as a
general loss of interest and enthusiasm (apathy). They develop problems with
cognition, including difficulties with attention, planning, and problem solving.
As the cognitive and behavioral problems worsen, affected individuals
increasingly require help with personal care and other activities of daily
living.
related-gene-list
Prolidase deficiency https://ghr.nlm.nih.gov/condition/prolidase-deficiency Prolidase deficiency is a rare disorder. Approximately 70 individuals with html:p Prolidase deficiency is a disorder that causes a wide variety of symptoms. The ar autosomal recessive PEPD https://ghr.nlm.nih.gov/gene/PEPD hyperimidodipeptiduria db key 2012-02 2017-12-29
Prolidase缺乏症 this disorder have been documented in the medical literature, and researchers disorder typically becomes apparent during infancy. Affected individuals may imidodipeptidase deficiency GTR C0268532
have estimated that the condition occurs in approximately 1 in 1 million to 1 in have enlargement of the spleen (splenomegaly); in some cases, both the spleen PD db key
2 million newborns. It is more common in certain areas in northern Israel, both and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration peptidase deficiency GeneReviews prolidase-def
among members of a religious minority called the Druze and in nearby Arab may also occur. People with prolidase deficiency are susceptible to severe db key
Moslem populations. infections of the skin or ears, or potentially life-threatening respiratory MeSH D056732
tract infections. Some individuals with prolidase deficiency have chronic lung db key
disease. OMIM 170100
html:p Characteristic facial features in people with prolidase deficiency include db key
prominent eyes that are widely spaced (hypertelorism), a high forehead, a flat Orphanet 742
bridge of the nose, and a very small lower jaw and chin (micrognathia). Affected db key
children may experience delayed development, and about 75 percent of people SNOMED CT 360969006
with prolidase deficiency have intellectual disability that may range from mild db key
to severe. SNOMED CT 360994007
html:p People with prolidase deficiency often develop skin lesions, especially on their db key
hands, feet, lower legs, and face. The severity of the skin involvement, which SNOMED CT 410055005
usually begins during childhood, may range from a mild rash to severe skin
ulcers. Skin ulcers, especially on the legs, may not heal completely, resulting
in complications including infection and amputation.
html:p The severity of symptoms in prolidase deficiency varies greatly among affected
individuals. Some people with this disorder do not have any symptoms. In these
individuals the condition can be detected by laboratory tests such as newborn
screening tests or tests offered to relatives of affected individuals.
related-gene-list
Proopiomelanocortin deficiency https://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency POMC deficiency is a rare condition; approximately 50 cases have been html:p Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an ar autosomal recessive POMC https://ghr.nlm.nih.gov/gene/POMC obesity, early-onset, adrenal insufficiency, and red hair db key 2014-02 2017-12-29
reported in the medical literature. early age. In addition to obesity, people with this condition have low levels of POMC deficiency GTR C1857854
a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair db key
and pale skin. GeneReviews pomc-def
html:p Affected infants are usually a normal weight at birth, but they are constantly db key
hungry, which leads to excessive feeding (hyperphagia). The babies continuously MeSH D009767
gain weight and are severely obese by age 1. Affected individuals experience db key
excessive hunger and remain obese for life. It is unclear if these individuals OMIM 609734
are prone to weight-related conditions like cardiovascular disease or type 2 db key
diabetes. Orphanet 71526
html:p Low levels of ACTH lead to a condition called adrenal insufficiency, which db key
occurs when the pair of small glands on top of the kidneys (the adrenal glands) SNOMED CT 702949005
do not produce enough hormones. Adrenal insufficiency often results in periods
of severely low blood sugar (hypoglycemia) in people with POMC deficiency, which
can cause seizures, elevated levels of a toxic substance called bilirubin in
the blood (hyperbilirubinemia), and a reduced ability to produce and release a
digestive fluid called bile (cholestasis). Without early treatment, adrenal
insufficiency can be fatal.
html:p Pale skin that easily burns when exposed to the sun and red hair are common in
POMC deficiency, although not everyone with the condition has these
characteristics.
related-gene-list
Propionic acidemia https://ghr.nlm.nih.gov/condition/propionic-acidemia Propionic acidemia affects about 1 in 100,000 people in the United States. html:p Propionic acidemia is an inherited disorder in which the body is unable to ar autosomal recessive PCCA https://ghr.nlm.nih.gov/gene/PCCA hyperglycinemia with ketoacidosis and leukopenia db key 2007-07 2017-12-29
丙酸血症 The condition appears to be more common in several populations worldwide, process certain parts of proteins and lipids (fats) properly. It is classified related-gene gene-symbol ghr-page ketotic glycinemia GTR C0268579
including the Inuit population of Greenland, some Amish communities, and Saudi as an organic acid disorder, which is a condition that leads to an abnormal PCCB https://ghr.nlm.nih.gov/gene/PCCB ketotic hyperglycinemia db key
Arabians. buildup of particular acids known as organic acids. Abnormal levels of organic PCC deficiency GeneReviews propionic-a
acids in the blood (organic acidemia), urine (organic aciduria), and tissues can PROP db key
be toxic and can cause serious health problems. propionicacidemia ICD-10-CM E71.121
html:p In most cases, the features of propionic acidemia become apparent within a few propionyl-CoA carboxylase deficiency db key
days after birth. The initial symptoms include poor feeding, vomiting, loss of MeSH D056693
appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These db key
symptoms sometimes progress to more serious medical problems, including heart OMIM 606054
abnormalities, seizures, coma, and possibly death. db key
html:p Less commonly, the signs and symptoms of propionic acidemia appear during Orphanet 35
childhood and may come and go over time. Some affected children experience db key
intellectual disability or delayed development. In children with this SNOMED CT 124718009
later-onset form of the condition, episodes of more serious health problems can db key
be triggered by prolonged periods without food (fasting), fever, or infections. SNOMED CT 399087009
db key
SNOMED CT 399149003
db key
related-gene-list SNOMED CT 69080001
Prostate cancer https://ghr.nlm.nih.gov/condition/prostate-cancer About 1 in 7 men will be diagnosed with prostate cancer at some time during html:p Prostate cancer is a common disease that affects men, usually in middle age or ad autosomal dominant AR https://ghr.nlm.nih.gov/gene/AR cancer of the prostate db key 2015-04 2017-12-29
前列腺癌 their life. In addition, studies indicate that many older men have undiagnosed later. In this disorder, certain cells in the prostate become abnormal and code memo related-gene gene-symbol ghr-page malignant neoplasm of the prostate GTR C1836005
prostate cancer that is non-aggressive and unlikely to cause symptoms or affect multiply without control or order to form a tumor. The prostate is a gland that n not inherited BRCA1 https://ghr.nlm.nih.gov/gene/BRCA1 prostate carcinoma db key
their lifespan. While most men who are diagnosed with prostate cancer do not die surrounds the male urethra and helps produce semen, the fluid that carries code memo related-gene gene-symbol ghr-page prostate neoplasm GTR C1836436
from it, this common cancer is still the second leading cause of cancer death sperm. u pattern unknown BRCA2 https://ghr.nlm.nih.gov/gene/BRCA2 prostatic cancer db key
among men in the United States.More than 60 percent of prostate cancers are html:p Early prostate cancer usually does not cause pain, and most affected men exhibit related-gene gene-symbol ghr-page prostatic carcinoma GTR C1837593
diagnosed after age 65, and the disorder is rare before age 40. In the United no noticeable symptoms. Men are often diagnosed as the result of health CD82 https://ghr.nlm.nih.gov/gene/CD82 prostatic neoplasm db key
States, African Americans have a higher risk of developing prostate cancer than screenings, such as a blood test for a substance called prostate specific related-gene gene-symbol ghr-page GTR C1837595
do men of other ethnic backgrounds, and they also have a higher risk of dying antigen (PSA) or a medical procedure called a digital rectal exam. As the tumor CDH1 https://ghr.nlm.nih.gov/gene/CDH1 db key
from the disease. grows larger, signs and symptoms can include difficulty starting or stopping the related-gene gene-symbol ghr-page GTR C1843533
flow of urine, a feeling of not being able to empty the bladder completely, CHEK2 https://ghr.nlm.nih.gov/gene/CHEK2 db key
blood in the urine or semen, or pain with ejaculation. However, these changes related-gene gene-symbol ghr-page GTR C1846279
can also occur with many other genitourinary conditions. Having one or more of EHBP1 https://ghr.nlm.nih.gov/gene/EHBP1 db key
these symptoms does not necessarily mean that a man has prostate cancer. related-gene gene-symbol ghr-page GTR C1853195
html:p The severity and outcome of prostate cancer varies widely. Early-stage prostate ELAC2 https://ghr.nlm.nih.gov/gene/ELAC2 db key
cancer can usually be treated successfully, and some older men have prostate related-gene gene-symbol ghr-page GTR C1863600
tumors that grow so slowly that they may never cause health problems during EP300 https://ghr.nlm.nih.gov/gene/EP300 db key
their lifetime, even without treatment. In other men, however, the cancer is related-gene gene-symbol ghr-page GTR C1864472
much more aggressive; in these cases, prostate cancer can be life-threatening. EPHB2 https://ghr.nlm.nih.gov/gene/EPHB2 db key
html:p Some cancerous tumors can invade surrounding tissue and spread to other parts of related-gene gene-symbol ghr-page GTR C1970192
the body. Tumors that begin at one site and then spread to other areas of the EZH2 https://ghr.nlm.nih.gov/gene/EZH2 db key
body are called metastatic cancers. The signs and symptoms of metastatic cancer related-gene gene-symbol ghr-page GTR C1970250
depend on where the disease has spread. If prostate cancer spreads, cancerous FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 db key
cells most often appear in the lymph nodes, bones, lungs, liver, or brain. Bone related-gene gene-symbol ghr-page GTR C2677771
metastases of prostate cancer most often cause pain in the lower back, pelvis, FGFR4 https://ghr.nlm.nih.gov/gene/FGFR4 db key
or hips. related-gene gene-symbol ghr-page GTR C2677772
html:p A small percentage of all prostate cancers cluster in families. These hereditary GNMT https://ghr.nlm.nih.gov/gene/GNMT db key
cancers are associated with inherited gene mutations. Hereditary prostate related-gene gene-symbol ghr-page GTR C2677773
cancers tend to develop earlier in life than non-inherited (sporadic) cases. HNF1B https://ghr.nlm.nih.gov/gene/HNF1B db key
related-gene gene-symbol ghr-page GTR C2677821
HOXB13 https://ghr.nlm.nih.gov/gene/HOXB13 db key
related-gene gene-symbol ghr-page GTR C2678047
HPCX https://ghr.nlm.nih.gov/gene/HPCX db key
related-gene gene-symbol ghr-page GTR C2678479
IGF2 https://ghr.nlm.nih.gov/gene/IGF2 db key
related-gene gene-symbol ghr-page GTR C2931456
ITGA6 https://ghr.nlm.nih.gov/gene/ITGA6 db key
related-gene gene-symbol ghr-page GTR C3539120
KLF6 https://ghr.nlm.nih.gov/gene/KLF6 db key
related-gene gene-symbol ghr-page GTR CN036094
LRP2 https://ghr.nlm.nih.gov/gene/LRP2 db key
related-gene gene-symbol ghr-page ICD-10-CM C61
MAD1L1 https://ghr.nlm.nih.gov/gene/MAD1L1 db key
related-gene gene-symbol ghr-page MeSH D011471
MED12 https://ghr.nlm.nih.gov/gene/MED12 db key
related-gene gene-symbol ghr-page OMIM 176807
MSMB https://ghr.nlm.nih.gov/gene/MSMB db key
related-gene gene-symbol ghr-page OMIM 300147
MSR1 https://ghr.nlm.nih.gov/gene/MSR1 db key
related-gene gene-symbol ghr-page OMIM 300704
MXI1 https://ghr.nlm.nih.gov/gene/MXI1 db key
related-gene gene-symbol ghr-page OMIM 601518
NBN https://ghr.nlm.nih.gov/gene/NBN db key
related-gene gene-symbol ghr-page OMIM 602759
PCAP https://ghr.nlm.nih.gov/gene/PCAP db key
related-gene gene-symbol ghr-page OMIM 603688
PCNT https://ghr.nlm.nih.gov/gene/PCNT db key
related-gene gene-symbol ghr-page OMIM 604845
PLXNB1 https://ghr.nlm.nih.gov/gene/PLXNB1 db key
related-gene gene-symbol ghr-page OMIM 605095
PTEN https://ghr.nlm.nih.gov/gene/PTEN db key
related-gene gene-symbol ghr-page OMIM 605099
RNASEL https://ghr.nlm.nih.gov/gene/RNASEL db key
related-gene gene-symbol ghr-page OMIM 607592
SRD5A2 https://ghr.nlm.nih.gov/gene/SRD5A2 db key
related-gene gene-symbol ghr-page OMIM 608656
STAT3 https://ghr.nlm.nih.gov/gene/STAT3 db key
related-gene gene-symbol ghr-page OMIM 608658
TGFBR1 https://ghr.nlm.nih.gov/gene/TGFBR1 db key
related-gene gene-symbol ghr-page OMIM 609299
WRN https://ghr.nlm.nih.gov/gene/WRN db key
related-gene gene-symbol ghr-page OMIM 609558
WT1 https://ghr.nlm.nih.gov/gene/WT1 db key
related-gene gene-symbol ghr-page OMIM 609717
ZFHX3 https://ghr.nlm.nih.gov/gene/ZFHX3 db key
OMIM 610321
db key
OMIM 610997
db key
OMIM 611100
db key
OMIM 611868
db key
OMIM 611928
db key
OMIM 611955
db key
OMIM 611958
db key
OMIM 611959
db key
OMIM 614731
db key
OMIM 615452
db key
Orphanet 1331
db key
related-gene-list SNOMED CT 399068003
Protein C deficiency https://ghr.nlm.nih.gov/condition/protein-c-deficiency Mild protein C deficiency affects approximately 1 in 500 individuals. html:p Protein C deficiency is a disorder that increases the risk of developing ad autosomal dominant PROC https://ghr.nlm.nih.gov/gene/PROC hereditary thrombophilia due to protein C deficiency db key 2013-05 2017-12-29
蛋白質C缺乏症 Severe protein C deficiency is rare and occurs in an estimated 1 in 4 million abnormal blood clots; the condition can be mild or severe. PROC deficiency GTR C2674321
newborns. html:p Individuals with mild protein C deficiency are at risk of a type of blood clot db key
known as a deep vein thrombosis (DVT). These clots occur in the deep veins of MeSH D020151
the arms or legs, away from the surface of the skin. A DVT can travel through db key
the bloodstream and lodge in the lungs, causing a life-threatening blockage of OMIM 176860
blood flow known as a pulmonary embolism (PE). While most people with mild db key
protein C deficiency never develop abnormal blood clots, certain factors can add OMIM 612304
to the risk of their development. These factors include increased age, surgery, db key
inactivity, or pregnancy. Having another inherited disorder of blood clotting Orphanet 745
in addition to protein C deficiency can also influence the risk of abnormal db key
blood clotting. SNOMED CT 439274008
html:p In severe cases of protein C deficiency, infants develop a life-threatening db key
blood clotting disorder called purpura fulminans soon after birth. Purpura SNOMED CT 441101007
fulminans is characterized by the formation of blood clots in the small blood db key
vessels throughout the body. These blood clots block normal blood flow and can SNOMED CT 441188004
lead to localized death of body tissue (necrosis). Widespread blood clotting db key
uses up all available blood clotting proteins. As a result, abnormal bleeding SNOMED CT 76407009
occurs in various parts of the body, which can cause large, purple patches on
the skin. Individuals who survive the newborn period may experience recurrent
episodes of purpura fulminans暴發性紫癜.
related-gene-list
Protein S deficiency https://ghr.nlm.nih.gov/condition/protein-s-deficiency Mild protein S deficiency is estimated to occur in approximately 1 in 500 html:p Protein S deficiency is a disorder of blood clotting. People with this condition ad autosomal dominant PROS1 https://ghr.nlm.nih.gov/gene/PROS1 hereditary thrombophilia due to protein S deficiency db key 2009-10 2017-12-29
蛋白質S缺乏症 individuals. Severe protein S deficiency is rare; however, its exact prevalence have an increased risk of developing abnormal blood clots. GTR C2676728
is unknown. html:p Individuals with mild protein S deficiency are at risk of a type of clot called db key
a deep vein thrombosis (DVT) that occurs in the deep veins of the arms or legs. MeSH D018455
If a DVT travels through the bloodstream and lodges in the lungs, it can cause a db key
life-threatening clot known as a pulmonary embolism (PE). Other factors can OMIM 612336
raise the risk of abnormal blood clots in people with mild protein S deficiency. db key
These factors include increasing age, surgery, immobility, or pregnancy. The Orphanet 743
combination of protein S deficiency and other inherited disorders of blood db key
clotting can also influence risk. Many people with mild protein S deficiency SNOMED CT 1563006
never develop an abnormal blood clot, however. db key
html:p In severe cases of protein S deficiency, infants develop a life-threatening SNOMED CT 439702007
blood clotting disorder called purpura fulminans soon after birth. Purpura db key
fulminans is characterized by the formation of blood clots within small blood SNOMED CT 440988005
vessels throughout the body. These blood clots disrupt normal blood flow and can db key
lead to death of body tissue (necrosis). Widespread blood clotting uses up all SNOMED CT 441189007
available blood clotting proteins. As a result, abnormal bleeding occurs in
various parts of the body and is often noticeable as large, purple skin lesions.
Individuals who survive the newborn period may experience recurrent episodes of
purpura fulminans.
related-gene-list
Proteus syndrome https://ghr.nlm.nih.gov/condition/proteus-syndrome Proteus syndrome is a rare condition with an incidence of less than 1 in 1 html:p Proteus syndrome is a rare condition characterized by overgrowth of the bones, u pattern unknown AKT1 https://ghr.nlm.nih.gov/gene/AKT1 PS db key 2012-06 2017-12-29
普洛提斯症候群 million people worldwide. Only a few hundred affected individuals have been skin, and other tissues. Organs and tissues affected by the disease grow out of GTR C0085261
reported in the medical literature.Researchers believe that Proteus syndrome may proportion to the rest of the body. The overgrowth is usually asymmetric, which db key
be overdiagnosed, as some individuals with other conditions featuring means it affects the right and left sides of the body differently. Newborns with GeneReviews proteus
asymmetric overgrowth have been mistakenly diagnosed with Proteus syndrome. To Proteus syndrome have few or no signs of the condition. Overgrowth becomes db key
make an accurate diagnosis, most doctors and researchers now follow a set of apparent between the ages of 6 and 18 months and gets more severe with age. MeSH D016715
strict guidelines that define the signs and symptoms of Proteus syndrome. html:p In people with Proteus syndrome, the pattern of overgrowth varies greatly but db key
can affect almost any part of the body. Bones in the limbs, skull, and spine are OMIM 176920
often affected. The condition can also cause a variety of skin growths, db key
particularly a thick, raised, and deeply grooved lesion known as a cerebriform Orphanet 744
connective tissue nevus. This type of skin growth usually occurs on the soles of db key
the feet and is hardly ever seen in conditions other than Proteus syndrome. SNOMED CT 23150001
Blood vessels (vascular tissue) and fat (adipose tissue) can also grow
abnormally in Proteus syndrome.
html:p Some people with Proteus syndrome have neurological abnormalities, including
intellectual disability, seizures, and vision loss. Affected individuals may
also have distinctive facial features such as a long face, outside corners of
the eyes that point downward (down-slanting palpebral fissures), a low nasal
bridge with wide nostrils, and an open-mouth expression. For reasons that are
unclear, affected people with neurological symptoms are more likely to have
distinctive facial features than those without neurological symptoms. It is
unclear how these signs and symptoms are related to abnormal growth.
html:p Other potential complications of Proteus syndrome include an increased risk of
developing various types of noncancerous (benign) tumors and a type of blood
clot called a deep venous thrombosis (DVT). DVTs occur most often in the deep
veins of the legs or arms. If these clots travel through the bloodstream, they
can lodge in the lungs and cause a life-threatening complication called a
pulmonary embolism. Pulmonary embolism is a common cause of death in people with
Proteus syndrome.
related-gene-list
Prothrombin deficiency https://ghr.nlm.nih.gov/condition/prothrombin-deficiency Prothrombin deficiency is very rare; it is estimated to affect 1 in 2 html:p Prothrombin deficiency is a bleeding disorder that slows the blood clotting ar autosomal recessive F2 https://ghr.nlm.nih.gov/gene/F2 dysprothrombinemia db key 2013-11 2017-12-29
凝血酶原缺乏症 million people in the general population. process. People with this condition often experience prolonged bleeding factor II deficiency GTR C0020640
following an injury, surgery, or having a tooth pulled. In severe cases of hypoprothrombinemia db key
prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the ICD-10-CM D68.2
absence of injury (spontaneous bleeding). Women with prothrombin deficiency can db key
have prolonged and sometimes abnormally heavy menstrual bleeding. Serious MeSH D007020
complications can result from bleeding into the joints, muscles, brain, or other db key
internal organs. Milder forms of prothrombin deficiency do not involve OMIM 613679
spontaneous bleeding, and the condition may only become apparent following db key
surgery or a serious injury. Orphanet 325
db key
related-gene-list SNOMED CT 73975000
Prothrombin thrombophilia https://ghr.nlm.nih.gov/condition/prothrombin-thrombophilia Prothrombin thrombophilia is the second most common inherited form of html:p Prothrombin thrombophilia is an inherited disorder of blood clotting. u pattern unknown F2 https://ghr.nlm.nih.gov/gene/F2 hyperprothrombinemia db key 2008-08 2017-12-29
(Blood) thrombophilia after factor V Leiden thrombophilia. Approximately 1 in 50 people Thrombophilia is an increased tendency to form abnormal blood clots in blood Prothrombin G20210A Thrombophilia GTR C0398623
凝血酶原血栓形成傾向 in the white population in the United States and Europe has prothrombin vessels. People who have prothrombin thrombophilia are at somewhat higher than db key
thrombophilia. This condition is less common in other ethnic groups, occurring average risk for a type of clot called a deep venous thrombosis, which typically GeneReviews ptt
in less than one percent of African American, Native American, or Asian occurs in the deep veins of the legs. Affected people also have an increased db key
populations. risk of developing a pulmonary embolism, which is a clot that travels through ICD-10-CM D68.52
the bloodstream and lodges in the lungs. Most people with prothrombin db key
thrombophilia never develop abnormal blood clots, however. MeSH D019851
html:p Some research suggests that prothrombin thrombophilia is associated with a db key
somewhat increased risk of pregnancy loss (miscarriage) and may also increase OMIM 176930
the risk of other complications during pregnancy. These complications may db key
include pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, OMIM 188050
and early separation of the placenta from the uterine wall (placental db key
abruption). It is important to note, however, that most women with prothrombin SNOMED CT 440989002
thrombophilia have normal pregnancies. db key
SNOMED CT 441420000
db key
related-gene-list SNOMED CT 441421001
Proximal 18q deletion syndrome https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome Deletions from the q arm of chromosome 18 occur in an estimated 1 in 40,000 html:p Proximal 18q deletion syndrome is a chromosomal condition that occurs when a ad autosomal dominant 18 https://ghr.nlm.nih.gov/chromosome/18 18q deletion syndrome db key 2017-02 2017-12-29
newborns worldwide. However, only a small number of these individuals have piece of the long (q) arm of chromosome 18 is missing. The term "proximal" means 18q- syndrome GTR C0432443
deletions in the region associated with proximal 18q deletion syndrome. At least that the missing piece occurs near the center of the chromosome. Individuals chromosome 18 deletion syndrome db key
15 people with proximal 18q deletion syndrome have been described in the with proximal 18q deletion syndrome have a wide variety of signs and symptoms. chromosome 18 long arm deletion syndrome MeSH D025063
medical literature. Because only a small number of people are known to have this type of deletion, chromosome 18q monosomy db key
it can be difficult to determine which features should be considered chromosome 18q- syndrome OMIM 601808
characteristic of the disorder. del(18q) syndrome
html:p Most people with proximal 18q deletion syndrome have delayed development of monosomy 18q
skills such as sitting, crawling, walking, and speaking, and intellectual
disability that can range from mild to severe. In particular, vocabulary and the
production of speech (expressive language skills) may be delayed. Recurrent
seizures (epilepsy) and weak muscle tone (hypotonia) often occur in this
disorder. Affected individuals also frequently have behavioral problems such as
hyperactivity, aggression, excessive eating (hyperphagia) that can lead to
obesity, and features of autism spectrum disorders that affect communication and
social interaction. Some affected individuals have an unusually large head size
(macrocephaly).
html:p People with proximal 18q deletion syndrome often have characteristic facial
features including a prominent forehead, droopy eyelids (ptosis), short and
slightly downslanting openings of the eyes (palpebral fissures), puffy tissue
around the eyes (periorbital tissue), and full cheeks.
related-gene-list
Pseudoachondroplasia https://ghr.nlm.nih.gov/condition/pseudoachondroplasia The exact prevalence of pseudoachondroplasia is unknown; it is estimated to html:p Pseudoachondroplasia is an inherited disorder of bone growth. It was once ad autosomal dominant COMP https://ghr.nlm.nih.gov/gene/COMP PSACH db key 2013-01 2017-12-29
假性软骨发育不全 occur in 1 in 30,000 individuals. thought to be related to another disorder of bone growth called achondroplasia, pseudoachondroplastic dysplasia GTR C0410538
假性軟骨發育不全 but without that disorder's characteristic facial features. More research has pseudoachondroplastic spondyloepiphyseal dysplasia syndrome db key
demonstrated that pseudoachondroplasia is a separate disorder. GeneReviews psach
html:p All people with pseudoachondroplasia have short stature. The average height of db key
adult males with this condition is 120 centimeters (3 feet, 11 inches), and the MeSH D004392
average height of adult females is 116 centimeters (3 feet, 9 inches). db key
Individuals with pseudoachondroplasia are not unusually short at birth; by the OMIM 177170
age of two, their growth rate falls below the standard growth curve. db key
html:p Other characteristic features of pseudoachondroplasia include short arms and Orphanet 750
legs; a waddling walk; joint pain in childhood that progresses to a joint db key
disease known as osteoarthritis; an unusually large range of joint movement SNOMED CT 22567005
(hyperextensibility) in the hands, knees, and ankles; and a limited range of
motion at the elbows and hips. Some people with pseudoachondroplasia have legs
that turn outward or inward (valgus or varus deformity). Sometimes, one leg
turns outward and the other inward, which is called windswept deformity. Some
affected individuals have a spine that curves to the side (scoliosis) or an
abnormally curved lower back (lordosis). People with pseudoachondroplasia have
normal facial features, head size, and intelligence.
related-gene-list
Pseudocholinesterase deficiency https://ghr.nlm.nih.gov/condition/pseudocholinesterase-deficiency Pseudocholinesterase deficiency occurs in 1 in 3,200 to 1 in 5,000 people. html:p Pseudocholinesterase deficiency is a condition that results in increased ar autosomal recessive BCHE https://ghr.nlm.nih.gov/gene/BCHE butyrylcholinesterase deficiency db key 2012-04 2017-12-29
假性膽鹼酯酶缺乏症 It is more common in certain populations, such as the Persian Jewish community sensitivity to certain muscle relaxant drugs used during general anesthesia, cholinesterase II deficiency GTR C1283400
and Alaska Natives. called choline esters. These fast-acting drugs, such as succinylcholine and deficiency of butyrylcholine esterase db key
mivacurium, are given to relax the muscles used for movement (skeletal muscles), pseudocholinesterase E1 deficiency MeSH D008661
including the muscles involved in breathing. The drugs are often employed for succinylcholine sensitivity db key
brief surgical procedures or in emergencies when a breathing tube must be suxamethonium sensitivity OMIM 177400
inserted quickly. Normally, these drugs are broken down (metabolized) by the db key
body within a few minutes of being administered, at which time the muscles can Orphanet 132
move again. However, people with pseudocholinesterase deficiency may not be able db key
to move or breathe on their own for a few hours after the drugs are SNOMED CT 191397007
administered. Affected individuals must be supported with a machine to help them db key
breathe (mechanical ventilation) until the drugs are cleared from the body. SNOMED CT 360589003
html:p People with pseudocholinesterase deficiency may also have increased sensitivity db key
to certain other drugs, including the local anesthetic procaine, and to specific SNOMED CT 360607009
agricultural pesticides. The condition causes no other signs or symptoms and is db key
usually not discovered until an abnormal drug reaction occurs. SNOMED CT 418059000
related-gene-list
Pseudohypoaldosteronism type 1 https://ghr.nlm.nih.gov/condition/pseudohypoaldosteronism-type-1 PHA1 is a rare condition that has been estimated to affect 1 in 80,000 html:p Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems ad autosomal dominant NR3C2 https://ghr.nlm.nih.gov/gene/NR3C2 PHA1 db key 2011-12 2017-12-29
假性醛固酮減少症1型 newborns. regulating the amount of sodium in the body. Sodium regulation, which is code memo related-gene gene-symbol ghr-page pseudohypoaldosteronism type I GTR C1449842
important for blood pressure and fluid balance, primarily occurs in the kidneys. ar autosomal recessive SCNN1A https://ghr.nlm.nih.gov/gene/SCNN1A db key
However, sodium can also be removed from the body through other tissues, such related-gene gene-symbol ghr-page GTR C1449843
as the sweat glands and colon. Pseudohypoaldosteronism type 1 is named for its SCNN1B https://ghr.nlm.nih.gov/gene/SCNN1B db key
characteristic signs and symptoms, which mimic (pseudo) low levels (hypo) of a related-gene gene-symbol ghr-page MeSH D011546
hormone called aldosterone that helps regulate sodium levels. However, people SCNN1G https://ghr.nlm.nih.gov/gene/SCNN1G db key
with PHA1 have high levels of aldosterone. OMIM 177735
html:p There are two types of PHA1 distinguished by their severity, the genes involved, db key
and how they are inherited. One type, called autosomal dominant PHA1 (also OMIM 264350
known as renal PHA1) is characterized by excessive sodium loss from the kidneys. db key
This form of the condition is relatively mild and often improves in early Orphanet 756
childhood. The other type, called autosomal recessive PHA1 (also known as db key
generalized or systemic PHA1) is characterized by sodium loss from the kidneys Orphanet 171871
and other organs, including the sweat glands, salivary glands, and colon. This db key
type of PHA1 is more severe and does not improve with age. Orphanet 171876
html:p The earliest signs of both types of PHA1 are usually the inability to gain db key
weight and grow at the expected rate (failure to thrive) and dehydration, which SNOMED CT 43941006
are typically seen in infants. The characteristic features of both types of PHA1
are excessive amounts of sodium released in the urine (salt wasting), which
leads to low levels of sodium in the blood (hyponatremia), and high levels of
potassium in the blood (hyperkalemia). Infants with PHA1 can also have high
levels of acid in the blood (metabolic acidosis). Hyponatremia, hyperkalemia, or
metabolic acidosis can cause nonspecific symptoms such as nausea, vomiting,
extreme tiredness (fatigue), and muscle weakness in infants with PHA1.
html:p Infants with autosomal recessive PHA1 can have additional signs and symptoms due
to the involvement of multiple organs. Affected individuals may experience
episodes of abnormal heartbeat (cardiac arrhythmia) or shock because of the
imbalance of salts in the body. They may also have recurrent lung infections or
lesions on the skin. Although adults with autosomal recessive PHA1 can have
repeated episodes of salt wasting, they do not usually have other signs and
symptoms of the condition.
related-gene-list
Pseudohypoaldosteronism type 2 https://ghr.nlm.nih.gov/condition/pseudohypoaldosteronism-type-2 PHA2 is a rare condition; however, the prevalence is unknown. html:p Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect ad autosomal dominant CUL3 https://ghr.nlm.nih.gov/gene/CUL3 familial hyperkalemic hypertension db key 2016-03 2017-12-29
假性醛固酮減少症2型 regulation of the amount of sodium and potassium in the body. Sodium and code memo related-gene gene-symbol ghr-page familial hyperpotassemia and hypertension GTR C1449844
potassium are important in the control of blood pressure, and their regulation ar autosomal recessive KLHL3 https://ghr.nlm.nih.gov/gene/KLHL3 familial hypertensive hyperkalemia db key
occurs primarily in the kidneys. related-gene gene-symbol ghr-page FHHt GeneReviews pha2
html:p People with PHA2 have high blood pressure (hypertension) and high levels of WNK1 https://ghr.nlm.nih.gov/gene/WNK1 Gordon hyperkalemia-hypertension syndrome db key
potassium in their blood (hyperkalemia) despite having normal kidney function. related-gene gene-symbol ghr-page Gordon's syndrome MeSH D011546
The age of onset of PHA2 is variable and difficult to pinpoint; some affected WNK4 https://ghr.nlm.nih.gov/gene/WNK4 PHAII db key
individuals are diagnosed in infancy or childhood, and others are diagnosed in pseudohypoaldosteronism type II OMIM 145260
adulthood. Hyperkalemia usually occurs first, and hypertension develops later in db key
life. Affected individuals also have high levels of chloride (hyperchloremia) OMIM 614491
and acid (metabolic acidosis) in their blood (together, referred to as db key
hyperchloremic metabolic acidosis). People with hyperkalemia, hyperchloremia, OMIM 614492
and metabolic acidosis can have nonspecific symptoms like nausea, vomiting, db key
extreme tiredness (fatigue), and muscle weakness. People with PHA2 may also have OMIM 614495
high levels of calcium in their urine (hypercalciuria). db key
OMIM 614496
Pseudohypoparathyroidism; PHP db key
假性副甲狀腺低下症 Orphanet 757
db key
related-gene-list SNOMED CT 15689008
Pseudoxanthoma elasticum https://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum PXE affects approximately 1 in 50,000 people worldwide. For reasons that html:p Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized ad autosomal dominant ABCC6 https://ghr.nlm.nih.gov/gene/ABCC6 Groenblad-Strandberg syndrome db key 2015-01 2017-12-29
弹性纤维假黄瘤 are unclear, this disorder is diagnosed twice as frequently in females as in by the accumulation of deposits of calcium and other minerals (mineralization) code memo Gronblad-Strandberg syndrome GTR C0033847
males. in elastic fibers. Elastic fibers are a component of connective tissue, which ar autosomal recessive PXE db key
provides strength and flexibility to structures throughout the body. GeneReviews pxe
html:p In PXE, mineralization can affect elastic fibers in the skin, eyes, and blood db key
vessels, and less frequently in other areas such as the digestive tract. People MeSH D011561
with PXE may have yellowish bumps called papules on their necks, underarms, and db key
other areas of skin that touch when a joint bends (flexor areas). They may also OMIM 177850
have abnormalities in the eyes, such as a change in the pigmented cells of the db key
retina (the light-sensitive layer of cells at the back of the eye) known as peau OMIM 264800
d'orange. Another eye abnormality known as angioid streaks occurs when tiny db key
breaks form in the layer of tissue under the retina called Bruch's membrane. Orphanet 758
Bleeding and scarring of the retina may also occur, which can cause vision loss. db key
html:p Mineralization of the blood vessels that carry blood from the heart to the rest SNOMED CT 252246005
of the body (arteries) may cause other signs and symptoms of PXE. For example, db key
people with this condition can develop narrowing of the arteries SNOMED CT 72744008
(arteriosclerosis) or a condition called claudication that is characterized by
cramping and pain during exercise due to decreased blood flow to the arms and
legs. Rarely, bleeding from blood vessels in the digestive tract may also occur.
Psoriasis
乾癬
related-gene-list
Psoriatic arthritis https://ghr.nlm.nih.gov/condition/psoriatic-arthritis Psoriatic arthritis affects an estimated 24 in 10,000 people.Between 5 and html:p Psoriatic arthritis is a condition involving joint inflammation (arthritis) that u pattern unknown CARD14 https://ghr.nlm.nih.gov/gene/CARD14 arthropathic psoriasis db key 2014-08 2017-12-29
牛皮癣性关节炎 10 percent of people with psoriasis develop psoriatic arthritis, according to usually occurs in combination with a skin disorder called psoriasis. Psoriasis related-gene gene-symbol ghr-page psoriatic arthropathy GTR C1835223
most estimates. Some studies suggest a figure as high as 30 percent. Psoriasis is a chronic inflammatory condition characterized by patches of red, irritated HLA-B https://ghr.nlm.nih.gov/gene/HLA-B db key
itself is a common disorder, affecting approximately 2 to 3 percent of the skin that are often covered by flaky white scales. People with psoriasis may related-gene gene-symbol ghr-page ICD-10-CM L40.5
population worldwide. also have changes in their fingernails and toenails, such as nails that become HLA-C https://ghr.nlm.nih.gov/gene/HLA-C db key
pitted or ridged, crumble, or separate from the nail beds. related-gene gene-symbol ghr-page ICD-10-CM L40.50
html:p Signs and symptoms of psoriatic arthritis include stiff, painful joints with HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 db key
redness, heat, and swelling in the surrounding tissues. When the hands and feet related-gene gene-symbol ghr-page ICD-10-CM L40.51
are affected, swelling and redness may result in a "sausage-like" appearance of IL12B https://ghr.nlm.nih.gov/gene/IL12B db key
the fingers or toes (dactylitis). related-gene gene-symbol ghr-page ICD-10-CM L40.52
html:p In most people with psoriatic arthritis, psoriasis appears before joint problems IL13 https://ghr.nlm.nih.gov/gene/IL13 db key
develop. Psoriasis typically begins during adolescence or young adulthood, and related-gene gene-symbol ghr-page ICD-10-CM L40.53
psoriatic arthritis usually occurs between the ages of 30 and 50. However, both IL23R https://ghr.nlm.nih.gov/gene/IL23R db key
conditions may occur at any age. In a small number of cases, psoriatic arthritis related-gene gene-symbol ghr-page ICD-10-CM L40.54
develops in the absence of noticeable skin changes. TRAF3IP2 https://ghr.nlm.nih.gov/gene/TRAF3IP2 db key
html:p Psoriatic arthritis may be difficult to distinguish from other forms of ICD-10-CM L40.59
arthritis, particularly when skin changes are minimal or absent. Nail changes db key
and dactylitis are two features that are characteristic of psoriatic arthritis, MeSH D015535
although they do not occur in all cases. db key
html:p Psoriatic arthritis is categorized into five types: distal interphalangeal OMIM 607507
predominant, asymmetric oligoarticular, symmetric polyarthritis, spondylitis, db key
and arthritis mutilans. SNOMED CT 33339001
html:p The distal interphalangeal predominant type affects mainly the ends of the
fingers and toes. The distal interphalangeal joints are those closest to the
nails. Nail changes are especially frequent with this form of psoriatic
arthritis.
html:p The asymmetric oligoarticular and symmetric polyarthritis types are the most
common forms of psoriatic arthritis. The asymmetric oligoarticular type of
psoriatic arthritis involves different joints on each side of the body, while
the symmetric polyarthritis form affects the same joints on each side. Any joint
in the body may be affected in these forms of the disorder, and symptoms range
from mild to severe.
html:p Some individuals with psoriatic arthritis have joint involvement that primarily
involves spondylitis, which is inflammation in the joints between the vertebrae
in the spine. Symptoms of this form of the disorder involve pain and stiffness
in the back or neck, and movement is often impaired. Joints in the arms, legs,
hands, and feet may also be involved.
html:p The most severe and least common type of psoriatic arthritis is called arthritis
mutilans. Fewer than 5 percent of individuals with psoriatic arthritis have
this form of the disorder. Arthritis mutilans involves severe inflammation that
damages the joints in the hands and feet, resulting in deformation and movement
problems. Bone loss (osteolysis) at the joints may lead to shortening
(telescoping) of the fingers and toes. Neck and back pain may also occur.
related-gene-list
Pulmonary alveolar microlithiasis https://ghr.nlm.nih.gov/condition/pulmonary-alveolar-microlithiasis Pulmonary alveolar microlithiasis is a rare disorder; its prevalence is html:p Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments ar autosomal recessive SLC34A2 https://ghr.nlm.nih.gov/gene/SLC34A2 PAM db key 2014-12 2017-12-29
肺泡微石症 unknown. About 600 affected individuals have been described in the medical (microliths) of a compound called calcium phosphate gradually accumulate in the GTR C0155912
(Lung) literature, of whom about a quarter are of Turkish descent. The remainder come small air sacs (alveoli) located throughout the lungs. These deposits eventually db key
from populations worldwide. cause widespread damage to the alveoli and surrounding lung tissue ICD-10-CM J84.02
(interstitial lung disease) that leads to breathing problems. People with this db key
disorder can develop a persistent cough and difficulty breathing (dyspnea), MeSH D017563
especially during physical exertion. Affected individuals may also experience db key
chest pain that worsens when coughing, sneezing, or taking deep breaths. OMIM 265100
html:p Pulmonary alveolar microlithiasis is usually diagnosed before age 40. Often the db key
disorder is discovered before symptoms develop, when medical imaging is done for Orphanet 60025
other reasons. The condition typically worsens slowly over many years, although db key
some affected individuals have signs and symptoms that remain stable for long SNOMED CT 87153008
periods of time.
html:p People with pulmonary alveolar microlithiasis can also develop calcium phosphate
deposits in other organs and tissues of the body, including the kidneys,
gallbladder, testes, and the valve that connects a large blood vessel called the
aorta with the heart (the aortic valve). In rare cases, affected individuals
have complications related to accumulation of these deposits, such as a
narrowing (stenosis) of the aortic valve that can impede normal blood flow.
related-gene-list
Pulmonary arterial hypertension https://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension In the United States, about 1,000 new cases of pulmonary arterial html:p Pulmonary arterial hypertension is a progressive disorder characterized by ad autosomal dominant ACVRL1 https://ghr.nlm.nih.gov/gene/ACVRL1 Ayerza syndrome db key 2016-01 2017-12-29
肺動脈高壓 hypertension are diagnosed each year. This disorder is twice as common in abnormally high blood pressure (hypertension) in the pulmonary artery, the blood related-gene gene-symbol ghr-page familial primary pulmonary hypertension GTR C0152171
females as in males. vessel that carries blood from the heart to the lungs. Pulmonary arterial BMPR1B https://ghr.nlm.nih.gov/gene/BMPR1B FPPH db key
hypertension is one form of a broader condition known as pulmonary hypertension. related-gene gene-symbol ghr-page idiopathic pulmonary hypertension GTR C3809192
Pulmonary hypertension occurs when most of the very small arteries throughout BMPR2 https://ghr.nlm.nih.gov/gene/BMPR2 PAH db key
the lungs narrow in diameter, which increases the resistance to blood flow related-gene gene-symbol ghr-page PPH GTR C3809198
through the lungs. To overcome the increased resistance, blood pressure CAV1 https://ghr.nlm.nih.gov/gene/CAV1 PPHT db key
increases in the pulmonary artery and in the right ventricle of the heart, which related-gene gene-symbol ghr-page primary pulmonary hypertension GTR C3888002
is the chamber that pumps blood into the pulmonary artery. Ultimately, the CBLN2 https://ghr.nlm.nih.gov/gene/CBLN2 sporadic primary pulmonary hypertension db key
increased blood pressure can damage the right ventricle of the heart. related-gene gene-symbol ghr-page GeneReviews pph
html:p Signs and symptoms of pulmonary arterial hypertension occur when increased blood EIF2AK4 https://ghr.nlm.nih.gov/gene/EIF2AK4 db key
pressure cannot fully overcome the elevated resistance. As a result, the flow related-gene gene-symbol ghr-page ICD-10-CM I27.0
of oxygenated blood from the lungs to the rest of the body is insufficient. ENG https://ghr.nlm.nih.gov/gene/ENG db key
Shortness of breath (dyspnea) during exertion and fainting spells are the most related-gene gene-symbol ghr-page MeSH D065627
common symptoms of pulmonary arterial hypertension. People with this disorder KCNA5 https://ghr.nlm.nih.gov/gene/KCNA5 db key
may experience additional symptoms, particularly as the condition worsens. related-gene gene-symbol ghr-page OMIM 178600
Other symptoms include dizziness, swelling (edema) of the ankles or legs, chest KCNK3 https://ghr.nlm.nih.gov/gene/KCNK3 db key
pain, and a rapid heart rate. related-gene gene-symbol ghr-page OMIM 615342
SMAD9 https://ghr.nlm.nih.gov/gene/SMAD9 db key
OMIM 615343
db key
OMIM 615344
db key
Orphanet 422
db key
Orphanet 182090
db key
Orphanet 275766
db key
Orphanet 275777
db key
SNOMED CT 233943009
db key
SNOMED CT 233944003
db key
SNOMED CT 697897003
db key
related-gene-list SNOMED CT 78862003
Pulmonary veno-occlusive disease https://ghr.nlm.nih.gov/condition/pulmonary-veno-occlusive-disease The exact prevalence of PVOD is unknown. Many cases are likely misdiagnosed html:p Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage ad autosomal dominant BMPR2 https://ghr.nlm.nih.gov/gene/BMPR2 isolated pulmonary venous sclerosis db key 2015-03 2017-12-29
肺靜脈閉塞性疾病 as idiopathic pulmonary arterial hypertension, which is increased blood (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from code memo related-gene gene-symbol ghr-page obstructive disease of the pulmonary veins GTR C0034091
pressure in the pulmonary arteries without a known cause. Research suggests that the lungs to the heart (the pulmonary veins). The occlusion is caused by a ar autosomal recessive EIF2AK4 https://ghr.nlm.nih.gov/gene/EIF2AK4 pulmonary venoocclusive disease db key
5 to 25 percent of people diagnosed with idiopathic pulmonary arterial buildup of abnormal fibrous tissue in the small veins in the lungs, which PVOD MeSH D011668
hypertension have PVOD. Based on these numbers, PVOD is thought to affect an narrows the vessels and impairs blood flow. Because blood flow through the lungs venous form of primary pulmonary hypertension db key
estimated 1 to 2 per 10 million people. is difficult, pressure rises in the vessels that carry blood that needs to be OMIM 234810
oxygenated to the lungs from the heart (the pulmonary arteries). Increased db key
pressure in these vessels is known as pulmonary arterial hypertension. OMIM 265450
html:p The problems with blood flow in PVOD also impair the delivery of oxygenated db key
blood to the rest of the body, which leads to the signs and symptoms of the Orphanet 31837
condition. Shortness of breath (dyspnea) and tiredness (fatigue) during exertion db key
are the most common symptoms of this condition. Other common features include SNOMED CT 89420002
dizziness, a lack of energy (lethargy), difficulty breathing when lying down,
and a cough that does not go away. As the condition worsens, affected
individuals can develop a bluish tint to the skin (cyanosis), chest pains,
fainting spells, and an accumulation of fluid in the lungs (pulmonary edema).
html:p Certain features commonly seen in people with PVOD can be identified using a
test called a CT scan. One of these features, which is seen in the lungs of
affected individuals, is an abnormality described as centrilobular ground-glass
opacities. Affected individuals also have abnormal thickening of certain tissues
in the lungs, which is described as septal lines. In addition, lymph nodes in
the chest (mediastinal lymph nodes) are abnormally enlarged in people with PVOD.
html:p PVOD can begin at any age, and the blood flow problems worsen over time. Because
of the increased blood pressure in the pulmonary arteries, the heart must work
harder than normal to pump blood to the lungs, which can eventually lead to
fatal heart failure. Most people with this severe disorder do not live more than
2 years after diagnosis.
inheritance-pattern-list related-gene-list
PURA syndrome https://ghr.nlm.nih.gov/condition/pura-syndrome PURA syndrome is a rare condition affecting at least 70 individuals. It is html:p html:i ad autosomal dominant ghr-page PURA-related neurodevelopmental disorder db-key db key 2017-08 2017-12-29
PURA綜合症 estimated to account for fewer than 1 percent of cases of developmental delay. PURA https://ghr.nlm.nih.gov/gene/PURA PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome GeneReviews pura-dis
db-key db key
MeSH D065886
syndrome may learn to walk later than their peers; many are never able to walk. db-key db key
In infancy, affected infants have very weak muscle tone (hypotonia) and feeding Orphanet 438213
difficulties. Problems with swallowing (dysphagia) can last throughout life. In
addition, affected infants can be excessively sleepy (hypersomnolent), have a
low body temperature (hypothermia), and have short pauses in breathing (apnea)
or episodes of abnormally slow breathing (hypoventilation). These breathing
problems usually go away after age 1.
html:p html:i
PURA
syndrome, seizures are often difficult to control.
html:p html:i
PURA
related-gene-list
Purine nucleoside phosphorylase deficiency https://ghr.nlm.nih.gov/condition/purine-nucleoside-phosphorylase-deficiency Purine nucleoside phosphorylase deficiency is rare; only about 70 affected html:p Purine nucleoside phosphorylase deficiency is one of several disorders that ar autosomal recessive PNP https://ghr.nlm.nih.gov/gene/PNP nucleoside phosphorylase deficiency db key 2012-04 2017-12-29
嘌呤核苷磷酸化酶缺乏症 individuals have been identified. This disorder accounts for approximately 4 damage the immune system and cause severe combined immunodeficiency (SCID). PNP deficiency GTR C0268125
percent of all SCID cases. People with SCID lack virtually all immune protection from foreign invaders such db key
as bacteria, viruses, and fungi. Affected individuals are prone to repeated and ICD-10-CM D81.5
persistent infections that can be very serious or life-threatening. These db key
infections are often caused by "opportunistic" organisms that ordinarily do not MeSH D016511
cause illness in people with a normal immune system. Infants with SCID typically db key
grow much more slowly than healthy children and experience pneumonia, chronic OMIM 613179
diarrhea, and widespread skin rashes. Without successful treatment to restore db key
immune function, children with SCID usually do not survive past early childhood. Orphanet 760
html:p About two-thirds of individuals with purine nucleoside phosphorylase deficiency db key
have neurological problems, which may include developmental delay, intellectual SNOMED CT 60743005
disability, difficulties with balance and coordination (ataxia), and muscle
stiffness (spasticity). People with purine nucleoside phosphorylase deficiency
are also at increased risk of developing autoimmune disorders, which occur when
the immune system malfunctions and attacks the body's tissues and organs.
related-gene-list
Pyle disease https://ghr.nlm.nih.gov/condition/pyle-disease Pyle disease is thought to be a rare disorder, although its prevalence is html:p Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality ar autosomal recessive SFRP4 https://ghr.nlm.nih.gov/gene/SFRP4 metaphyseal dysplasia, Pyle type db key 2017-03 2017-12-29
派爾病 unknown. More than 25 cases have been described in the medical literature. of the long bones in the arms and legs in which the ends (metaphyses) of the Pyle metaphyseal dysplasia GTR C0265294
bones are abnormally broad; the shape of the bones resembles a boat oar or Pyle's disease db key
paddle. The broad metaphyses are due to enlargement of the spongy inner layer of Pyle's metaphyseal dysplasia syndrome ICD-10-CM Q78.5
bone (trabecular bone). Although trabecular bone is expanded, the dense db key
outermost layer of bone (cortical bone) is thinner than normal. As a result, the MeSH D010009
bones are fragile and fracture easily. The bone abnormalities in the legs db key
commonly cause knock knees (genu valgum) in affected individuals. OMIM 265900
html:p Other bone abnormalities can also occur in Pyle disease. Affected individuals db key
may have widened collar bones (clavicles), ribs, or bones in the fingers and Orphanet 3005
hands. Dental problems are common in Pyle disease, including delayed appearance db key
(eruption) of permanent teeth and misalignment of the top and bottom teeth SNOMED CT 27837003
(malocclusion).
Pyridoxamine 5-prime-phosphate oxidase deficiency
吡哆胺五端磷酸氧化酶缺乏
related-gene-list
Pyridoxal 5'-phosphate-dependent epilepsy https://ghr.nlm.nih.gov/condition/pyridoxal-5-phosphate-dependent-epilepsy Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition; html:p Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures ar autosomal recessive PNPO https://ghr.nlm.nih.gov/gene/PNPO PNPO Deficiency db key 2008-06 2017-12-29
approximately 14 cases have been described in the scientific literature. beginning soon after birth or, in some cases, before birth. The seizures PNPO-Related Neonatal Epileptic Encephalopathy GTR C1864723
typically involve irregular involuntary muscle contractions (myoclonus), pyridoxamine 5-prime-phosphate oxidase deficiency db key
abnormal eye movements, and convulsions. Most babies with this condition are pyridoxine-5'-phosphate oxidase deficiency MeSH D004827
born prematurely and may have a temporary, potentially toxic, increase in lactic db key
acid in the blood (lactic acidosis). Additionally, some infants have a slow OMIM 610090
heart rate and a lack of oxygen during delivery (fetal distress). db key
html:p Anticonvulsant drugs, which are usually given to control seizures, are Orphanet 79096
ineffective in people with pyridoxal 5'-phosphate-dependent epilepsy. Instead, db key
individuals with this type of epilepsy are medically treated with large daily SNOMED CT 124174008
doses of pyridoxal 5'-phosphate (a form of vitamin B6). If left untreated,
people with this condition can develop severe brain dysfunction
(encephalopathy), which can lead to death. Even though seizures can be
controlled with pyridoxal 5'-phosphate, neurological problems such as
developmental delay and learning disorders may still occur.
related-gene-list
Pyridoxine-dependent epilepsy https://ghr.nlm.nih.gov/condition/pyridoxine-dependent-epilepsy Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700,000 html:p Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in ar autosomal recessive ALDH7A1 https://ghr.nlm.nih.gov/gene/ALDH7A1 AASA dehydrogenase deficiency db key 2013-02 2017-12-29
吡哆醇依賴性癲癇 individuals. At least 100 cases have been reported worldwide. infancy or, in some cases, before birth. Those affected typically experience EPD GTR C1849508
prolonged seizures lasting several minutes (status epilepticus). These seizures epilepsy, pyridoxine-dependent db key
involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic PDE GeneReviews pds
seizures). Additional features of pyridoxine-dependent epilepsy include low pyridoxine dependency db key
body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, Pyridoxine Dependency MeSH D012640
and irritability before a seizure episode. In rare instances, children with pyridoxine dependency with seizures db key
this condition do not have seizures until they are 1 to 3 years old. pyridoxine-dependent seizures OMIM 266100
html:p Anticonvulsant drugs, which are usually given to control seizures, are vitamin B6-dependent seizures db key
ineffective in people with pyridoxine-dependent epilepsy. Instead, people with Orphanet 3006
this type of seizure are medically treated with large daily doses of pyridoxine db key
(a type of vitamin B6 found in food). If left untreated, people with this SNOMED CT 28602001
condition can develop severe brain dysfunction (encephalopathy). Even though
seizures can be controlled with pyridoxine, neurological problems such as
developmental delay and learning disorders may still occur.
related-gene-list
Pyruvate carboxylase deficiency https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency Pyruvate carboxylase deficiency is a rare condition, with an estimated html:p Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid ar autosomal recessive PC https://ghr.nlm.nih.gov/gene/PC ataxia with lactic acidosis, type II db key 2017-08 2017-12-29
丙酮酸羧化酶缺乏症 incidence of 1 in 250,000 births worldwide. Type A appears to be much more and other potentially toxic compounds to accumulate in the blood. High levels Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency GTR C0034341
common in some Algonkian Indian tribes in eastern Canada. of these substances can damage the body's organs and tissues, particularly in Leigh syndrome due to pyruvate carboxylase deficiency db key
the nervous system. PC deficiency GeneReviews pdc
html:p Researchers have identified at least three types of pyruvate carboxylase pyruvate carboxylase deficiency disease db key
deficiency, which are distinguished by the severity of their signs and symptoms. type II ataxia with lactic acidosis ICD-10-CM E74.4
Type A, which has been identified mostly in people from North America, has db key
severe symptoms that begin in infancy. Characteristic features include MeSH D015324
developmental delay and a buildup of lactic acid in the blood (lactic acidosis). db key
Increased acidity in the blood can lead to vomiting, abdominal pain, extreme OMIM 266150
tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, db key
episodes of lactic acidosis are triggered by an illness or periods without food Orphanet 3008
(fasting). Children with pyruvate carboxylase deficiency type A typically db key
survive only into infancy or early childhood. SNOMED CT 87694001
html:p Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms
that become apparent shortly after birth. This form of the condition has been
reported mostly in Europe, particularly France. Affected infants have severe
lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver
failure. They experience neurological problems including weak muscle tone
(hypotonia), abnormal movements, seizures, and coma. Infants with this form of
the condition usually survive for less than 3 months after birth.
html:p A milder form of pyruvate carboxylase deficiency, sometimes called type C, has
also been described. This type is characterized by slightly increased levels of
lactic acid in the blood and minimal signs and symptoms affecting the nervous
system.
related-gene-list
Pyruvate dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency Pyruvate dehydrogenase deficiency is believed to be a rare condition; html:p Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical ar autosomal recessive DLAT https://ghr.nlm.nih.gov/gene/DLAT ataxia with lactic acidosis db key 2012-07 2017-12-29
丙酮酸鹽脫氫酵素缺乏症 however, its prevalence is unknown. called lactic acid in the body and a variety of neurological problems. Signs and code memo related-gene gene-symbol ghr-page intermittent ataxia with pyruvate dehydrogenase deficiency GTR C0034345
symptoms of this condition usually first appear shortly after birth, and they xr X-linked recessive PDHA1 https://ghr.nlm.nih.gov/gene/PDHA1 PDH deficiency db key
can vary widely among affected individuals. The most common feature is a related-gene gene-symbol ghr-page PDHC deficiency GTR C1837429
potentially life-threatening buildup of lactic acid (lactic acidosis), which can PDHB https://ghr.nlm.nih.gov/gene/PDHB pyruvate dehydrogenase complex deficiency db key
cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. related-gene gene-symbol ghr-page GTR C1839413
People with pyruvate dehydrogenase deficiency usually have neurological problems PDHX https://ghr.nlm.nih.gov/gene/PDHX db key
as well. Most have delayed development of mental abilities and motor skills related-gene gene-symbol ghr-page GTR C1855553
such as sitting and walking. Other neurological problems can include PDP1 https://ghr.nlm.nih.gov/gene/PDP1 db key
intellectual disability, seizures, weak muscle tone (hypotonia), poor GTR C1855565
coordination, and difficulty walking. Some affected individuals have abnormal db key
brain structures, such as underdevelopment of the tissue connecting the left and GTR C3279841
right halves of the brain (corpus callosum), wasting away (atrophy) of the db key
exterior part of the brain known as the cerebral cortex, or patches of damaged MeSH D015325
tissue (lesions) on some parts of the brain. Because of the severe health db key
effects, many individuals with pyruvate dehydrogenase deficiency do not survive OMIM 245348
past childhood, although some may live into adolescence or adulthood. db key
OMIM 245349
db key
OMIM 312170
db key
OMIM 608782
db key
OMIM 614111
db key
Orphanet 765
db key
related-gene-list SNOMED CT 46683007
Pyruvate kinase deficiency https://ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency Pyruvate kinase deficiency is the most common inherited cause of html:p Pyruvate kinase deficiency is an inherited disorder that affects red blood ar autosomal recessive PKLR https://ghr.nlm.nih.gov/gene/PKLR PK deficiency db key 2012-04 2017-12-29
丙酮酸激酶缺乏症 nonspherocytic hemolytic anemia. More than 500 affected families have been cells, which carry oxygen to the body's tissues. People with this disorder have PKD GTR C1849472
identified, and studies suggest that the disorder may be underdiagnosed because a condition known as chronic hemolytic anemia, in which red blood cells are db key
mild cases may not be identified.Pyruvate kinase deficiency is found in all broken down (undergo hemolysis) prematurely, resulting in a shortage of red ICD-10-CM D55.2
ethnic groups. Its prevalence has been estimated at 1 in 20,000 people of blood cells (anemia). Specifically, pyruvate kinase deficiency is a common cause db key
European descent. It is more common in the Old Order Amish population of of a type of inherited hemolytic anemia called hereditary nonspherocytic MeSH D000745
Pennsylvania. hemolytic anemia. In hereditary nonspherocytic hemolytic anemia, the red blood db key
cells do not assume a spherical shape as they do in some other forms of OMIM 266200
hemolytic anemia. db key
html:p Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of Orphanet 766
the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath db key
(dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen SNOMED CT 124331002
(splenomegaly), an excess of iron in the blood, and small pebble-like deposits
in the gallbladder or bile ducts (gallstones) are also common in this disorder.
html:p In people with pyruvate kinase deficiency, hemolytic anemia and associated
complications may range from mild to severe. Some affected individuals have few
or no symptoms. Severe cases can be life-threatening in infancy, and such
affected individuals may require regular blood transfusions to survive. The
symptoms of this disorder may get worse during an infection or pregnancy.
related-gene-list
Rabson-Mendenhall syndrome https://ghr.nlm.nih.gov/condition/rabson-mendenhall-syndrome Rabson-Mendenhall syndrome is estimated to affect less than 1 per million html:p Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin ar autosomal recessive INSR https://ghr.nlm.nih.gov/gene/INSR Mendenhall syndrome db key 2014-12 2017-12-29
Rabson-Mendenhall綜合徵 people worldwide. Several dozen cases have been reported in the medical resistance, a condition in which the body's tissues and organs do not respond pineal hyperplasia and diabetes mellitus syndrome GTR C0271695
literature. properly to the hormone insulin. Insulin normally helps regulate blood sugar pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic db key
levels by controlling how much sugar (in the form of glucose) is passed from the abnormalities MeSH D056731
bloodstream into cells to be used as energy. In people with Rabson-Mendenhall RMS db key
syndrome, insulin resistance impairs blood sugar regulation and ultimately leads OMIM 262190
to a condition called diabetes mellitus, in which blood sugar levels can become db key
dangerously high. Orphanet 769
html:p Severe insulin resistance in people with Rabson-Mendenhall syndrome affects the db key
development of many parts of the body. Affected individuals are unusually small SNOMED CT 33559001
starting before birth, and infants experience failure to thrive, which means
they do not grow and gain weight at the expected rate. Additional features of
the condition that become apparent early in life include a lack of fatty tissue
under the skin (subcutaneous fat); wasting (atrophy) of muscles; dental
abnormalities; excessive body hair growth (hirsutism); multiple cysts on the
ovaries in females; and enlargement of the nipples, genitalia, kidneys, heart,
and other organs. Most affected individuals also have a skin condition called
acanthosis nigricans, in which the skin in body folds and creases becomes thick,
dark, and velvety. Distinctive facial features in people with Rabson-Mendenhall
syndrome include prominent, widely spaced eyes; a broad nose; and large,
low-set ears.
html:p Rabson-Mendenhall syndrome is one of a group of related conditions described as
inherited severe insulin resistance syndromes. These disorders, which also
include Donohue syndrome and type A insulin resistance syndrome, are considered
part of a spectrum. Rabson-Mendenhall syndrome is intermediate in severity
between Donohue syndrome (which is usually fatal before age 2) and type A
insulin resistance syndrome (which is often not diagnosed until adolescence).
People with Rabson-Mendenhall syndrome develop signs and symptoms early in life
and live into their teens or twenties. Death usually results from complications
related to diabetes mellitus, such as a toxic buildup of acids called ketones in
the body (diabetic ketoacidosis).
RAG-deficient severe combined immunodeficiency, RAGdeficient SCID
嚴重複合型免疫缺乏症
related-gene-list
RAPADILINO syndrome https://ghr.nlm.nih.gov/condition/rapadilino-syndrome RAPADILINO syndrome is a rare condition, although its worldwide prevalence html:p RAPADILINO syndrome is a rare condition that involves many parts of the body. ar autosomal recessive RECQL4 https://ghr.nlm.nih.gov/gene/RECQL4 absent thumbs, dislocated joints, long face with narrow palpebral fissures, long db key 2013-08 2017-12-29
is unknown. The condition was first identified in Finland, where it affects an Bone development is especially affected, causing many of the characteristic slender nose, arched palate GTR C1849453
estimated 1 in 75,000 individuals, although it has since been found in other features of the condition. radial and patellar aplasia db key
regions. html:p Most affected individuals have underdevelopment or absence of the bones in the radial and patellar hypoplasia MeSH D001848
forearms and the thumbs, which are known as radial ray malformations. The db key
kneecaps (patellae) can also be underdeveloped or absent. Other features include OMIM 266280
an opening in the roof of the mouth (cleft palate) or a high arched palate; a db key
long, slender nose; and dislocated joints. Orphanet 3021
html:p Many infants with RAPADILINO syndrome have difficulty feeding and experience db key
diarrhea and vomiting. The combination of impaired bone development and feeding SNOMED CT 702413000
problems leads to slow growth and short stature in affected individuals.
html:p Some individuals with RAPADILINO syndrome have harmless light brown patches of
skin that resemble a skin finding known as café-au-lait spots. In addition,
people with RAPADILINO syndrome have a slightly increased risk of developing a
type of bone cancer known as osteosarcoma or a blood-related cancer called
lymphoma. In individuals with RAPADILINO syndrome, osteosarcoma most often
develops during childhood or adolescence, and lymphoma typically develops in
young adulthood.
html:p The condition name is an acronym for the characteristic features of the
disorder: RA for radial ray malformations, PA for patella and palate
abnormalities, DI for diarrhea and dislocated joints, LI for limb abnormalities
and little size, and NO for slender nose and normal intelligence.
html:p The varied signs and symptoms of RAPADILINO syndrome overlap with features of
other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome.
These syndromes are also characterized by radial ray defects, skeletal
abnormalities, and slow growth. All of these conditions can be caused by
mutations in the same gene. Based on these similarities, researchers are
investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and
RAPADILINO syndrome are separate disorders or part of a single syndrome with
overlapping signs and symptoms.
related-gene-list
Rapid-onset dystonia parkinsonism https://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism Rapid-onset dystonia parkinsonism appears to be a rare disorder, although html:p Rapid-onset dystonia parkinsonism is a rare movement disorder. "Rapid-onset" ad autosomal dominant ATP1A3 https://ghr.nlm.nih.gov/gene/ATP1A3 DYT12 db key 2009-07 2017-12-29
快速發作的肌張力障礙帕金森病 its prevalence is unknown. It has been diagnosed in individuals and families refers to the abrupt appearance of signs and symptoms over a period of hours to RDP GTR C1868681
from the United States, Europe, and Korea. days. Dystonia is a condition characterized by involuntary, sustained muscle RODP db key
contractions. Parkinsonism can include tremors, unusually slow movement GeneReviews rapid-odp
(bradykinesia), rigidity, an inability to hold the body upright and balanced db key
(postural instability), and a shuffling walk that can cause recurrent falls. MeSH D020821
html:p Rapid-onset dystonia parkinsonism causes movement abnormalities that can make it db key
difficult to walk, talk, and carry out other activities of daily life. In this OMIM 128235
disorder, dystonia affects the arms and legs, causing muscle cramping and db key
spasms. Facial muscles are often affected, resulting in problems with speech and Orphanet 71517
swallowing. The movement abnormalities associated with rapid-onset dystonia db key
parkinsonism tend to begin near the top of the body and move downward, first SNOMED CT 702323008
affecting the facial muscles, then the arms, and finally the legs.
html:p The signs and symptoms of rapid-onset dystonia parkinsonism most commonly appear
in adolescence or young adulthood. In some affected individuals, signs and
symptoms can be triggered by an infection, physical stress (such as prolonged
exercise), emotional stress, or alcohol consumption. The signs and symptoms tend
to stabilize within about a month, but they typically do not improve much after
that. In some people with this condition, the movement abnormalities abruptly
worsen during a second episode several years later.
html:p Some people with rapid-onset dystonia parkinsonism have been diagnosed with
anxiety, social phobias, depression, and seizures. It is unclear whether these
disorders are related to the genetic changes that cause rapid-onset dystonia
parkinsonism.
related-gene-list
Recombinant 8 syndrome https://ghr.nlm.nih.gov/condition/recombinant-8-syndrome Recombinant 8 syndrome is a rare condition; its exact incidence is unknown. html:p Recombinant 8 syndrome is a condition that involves heart and urinary tract ad autosomal dominant 8 https://ghr.nlm.nih.gov/chromosome/8 rec(8) syndrome db key 2009-04 2017-12-29
重組8綜合徵 Most people with this condition are descended from a Hispanic population abnormalities, moderate to severe intellectual disability, and a distinctive recombinant chromosome 8 syndrome GTR C0795822
originating in the San Luis Valley area of southern Colorado and northern New facial appearance. The characteristic facial features include a wide, square San Luis Valley syndrome db key
Mexico. Recombinant 8 syndrome is also called San Luis Valley syndrome. Only a face; a thin upper lip; a downturned mouth; a small chin (micrognathia); MeSH D025063
few cases outside this population have been found. wide-set eyes (hypertelorism); and low-set or unusually shaped ears. People db key
with recombinant 8 syndrome may have overgrowth of the gums (gingival OMIM 179613
hyperplasia) and abnormal tooth development. Males with this condition db key
frequently have undescended testes (cryptorchidism). Some affected individuals Orphanet 96167
have recurrent ear infections (otitis media) or hearing loss. Many children db key
with recombinant 8 syndrome do not survive past early childhood, usually due to SNOMED CT 718189004
complications related to their heart abnormalities.
related-gene-list
Recurrent hydatidiform mole https://ghr.nlm.nih.gov/condition/recurrent-hydatidiform-mole Hydatidiform moles occur in 1 in 600 to 1,000 pregnancies in western html:p Recurrent hydatidiform mole occurs when women have at least two abnormal ar autosomal recessive KHDC3L https://ghr.nlm.nih.gov/gene/KHDC3L familial biparental hydatidiform mole db key 2014-10 2017-12-29
復發葡萄胎 countries and are more common in developing countries. One to six percent of pregnancies described as hydatidiform moles. A hydatidiform mole occurs early in related-gene gene-symbol ghr-page familial recurrent hydatidiform mole GTR C0678213
復發水泡状胎块 previously affected women will have a recurrent hydatidiform mole. pregnancy when an embryo does not fully develop and the placenta develops NLRP7 https://ghr.nlm.nih.gov/gene/NLRP7 FRHM db key
abnormally. The placenta is a solid structure in the uterus that normally GTR C2931618
provides nutrients to a growing fetus. If a hydatidiform mole occurs once, it is db key
known a sporadic hydatidiform mole; if it happens again, the condition is known ICD-10-CM O01.0
as recurrent hydatidiform mole. db key
html:p A hydatidiform mole often causes vaginal bleeding in the first trimester of the MeSH D006828
pregnancy. In an ultrasound examination, the abnormal placenta appears as db key
numerous small sacs, often described as resembling a bunch of grapes. In some OMIM 231090
cases, the ultrasound shows no fetus, umbilical cord, or amniotic sac (a db key
fluid-filled sac that normally surrounds the fetus). OMIM 614293
html:p Hydatidiform moles are not naturally discharged from the body and must be db key
surgically removed, typically by the end of the first trimester. After removal, Orphanet 99927
there is up to a 20 percent risk that any tissue left behind (persistent mole) db key
will continue to grow and become a cancerous tumor called an invasive mole. The SNOMED CT 237249000
invasive mole can transform into a different form of cancer called gestational
choriocarcinoma that can spread (metastasize) to other tissues such as the
liver, lungs, or brain.
Red-Green Color Vision Defects
先天性紅綠色盲基因檢驗
related-gene-list
Refsum disease https://ghr.nlm.nih.gov/condition/refsum-disease The prevalence of Refsum disease is unknown, although the condition is html:p Refsum disease is an inherited condition that causes vision loss, absence of the ar autosomal recessive PEX7 https://ghr.nlm.nih.gov/gene/PEX7 adult Refsum disease db key 2016-11 2017-12-29
雷夫敘姆病 thought to be uncommon. sense of smell (anosmia), and a variety of other signs and symptoms. related-gene gene-symbol ghr-page ARD GTR C0034960
html:p The vision loss associated with Refsum disease is caused by an eye disorder PHYH https://ghr.nlm.nih.gov/gene/PHYH classic Refsum disease db key
called retinitis pigmentosa. This disorder affects the retina, the CRD GeneReviews refsum
light-sensitive layer at the back of the eye. Vision loss occurs as the hereditary motor and sensory neuropathy Type IV db key
light-sensing cells of the retina gradually deteriorate. The first sign of heredopathia atactica polyneuritiformis GeneReviews rp-overview
retinitis pigmentosa is usually a loss of night vision, which often becomes HMSN IV db key
apparent in childhood. Over a period of years, the disease disrupts side HMSN type IV ICD-10-CM G60.1
(peripheral) vision and may eventually lead to blindness. phytanic acid storage disease db key
html:p Vision loss and anosmia are seen in almost everyone with Refsum disease, but Refsum syndrome MeSH D012035
other signs and symptoms vary. About one-third of affected individuals are born Refsum's disease db key
with bone abnormalities of the hands and feet. Features that appear later in OMIM 266500
life can include progressive muscle weakness and wasting; poor balance and db key
coordination (ataxia); hearing loss; and dry, scaly skin (ichthyosis). Orphanet 773
Additionally, some people with Refsum disease develop an abnormal heart rhythm db key
(arrhythmia) and related heart problems that can be life-threatening. SNOMED CT 25362006
inheritance-pattern-list related-gene-list
REN-related kidney disease https://ghr.nlm.nih.gov/condition/ren-related-kidney-disease REN-related kidney disease is a rare condition. At least three families html:p This condition causes slowly progressive kidney disease autosomal dominant ghr-page Familial juvenile hyperuricemic nephropathy 2 db-key db key 2010-01 2017-12-29
with this condition have been identified. that usually becomes apparent during childhood. https://ghr.nlm.nih.gov/gene/REN GTR C2751310
db-key db key
GeneReviews hyper-nfj2
-related kidney disease typically require dialysis (to remove wastes from the db-key db key
blood) or a kidney transplant between ages 40 and 70. MeSH D007674
html:p html:i db-key db key
REN OMIM 613092
-related kidney disease develop a shortage of red blood cells (anemia), which db-key db key
can cause pale skin, weakness, and fatigue. In this disorder, anemia is usually SNOMED CT 46785007
mild and begins to improve during adolescence.
html:p Many individuals with this condition develop high blood levels of a waste
product called uric acid. Normally, the kidneys remove uric acid from the blood
html:i
REN
-related kidney disease may begin to experience the signs and symptoms of gout
during their twenties.
related-gene-list
Renal coloboma syndrome https://ghr.nlm.nih.gov/condition/renal-coloboma-syndrome The prevalence of renal coloboma syndrome is unknown; at least 60 cases html:p Renal coloboma syndrome (also known as papillorenal syndrome) is a condition ad autosomal dominant PAX2 https://ghr.nlm.nih.gov/gene/PAX2 coloboma of optic nerve with renal disease db key 2008-07 2017-12-29
have been reported in the scientific literature. that primarily affects kidney (renal) and eye development. People with this coloboma-ureteral-renal syndrome GTR C1852759
condition typically have kidneys that are small and underdeveloped ONCR db key
(hypoplastic), which can lead to end-stage renal disease (ESRD). This serious optic coloboma, vesicoureteral reflux, and renal anomalies GeneReviews papr
disease occurs when the kidneys are no longer able to filter fluids and waste optic nerve coloboma renal syndrome db key
products from the body effectively. It has been estimated that approximately papillorenal syndrome MeSH D003103
ten percent of children with hypoplastic kidneys may have renal coloboma RCS db key
syndrome. The kidney problems can affect one or both kidneys. renal-coloboma syndrome MeSH D007674
html:p Additionally, people with renal coloboma syndrome may have a malformation in the db key
optic nerve, a structure that carries information from the eye to the brain. OMIM 120330
Optic nerve malformations are sometimes associated with a gap or hole (coloboma) db key
in the light-sensitive tissue at the back of the eye (the retina). The vision Orphanet 1475
problems caused by these abnormalities can vary depending on the size and db key
location of the malformation. Some people have no visual problems, while others SNOMED CT 446449009
may have severely impaired vision.
html:p Less common features of renal coloboma syndrome include backflow of urine from
the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and
mild hearing loss.
related-gene-list
Renal hypouricemia https://ghr.nlm.nih.gov/condition/renal-hypouricemia The prevalence of renal hypouricemia is unknown; at least 150 affected html:p Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount ar autosomal recessive SLC2A9 https://ghr.nlm.nih.gov/gene/SLC2A9 familial renal hypouricaemia db key 2015-01 2017-12-29
腎性低血糖症 individuals have been described in the scientific literature. This condition is of uric acid in the blood. Uric acid is a byproduct of certain normal chemical related-gene gene-symbol ghr-page familial renal hypouricemia GTR C0473219
thought to be most prevalent in Asian countries such as Japan and South Korea, reactions in the body. In the bloodstream it acts as an antioxidant, protecting SLC22A12 https://ghr.nlm.nih.gov/gene/SLC22A12 hereditary renal hypouricemia db key
although affected individuals have been found in Europe. Renal hypouricemia is cells from the damaging effects of unstable molecules called free radicals. RHUC GTR C2677549
likely underdiagnosed because it does not cause any symptoms in many affected However, having too much uric acid in the body is toxic, so excess uric acid is db key
individuals. removed from the body in urine. MeSH D015499
html:p People with renal hypouricemia have little to no uric acid in their blood; they db key
release an excessive amount of it in the urine. In many affected individuals, OMIM 220150
renal hypouricemia causes no signs or symptoms. However, some people with this db key
condition develop kidney problems. After strenuous exercise, they can develop OMIM 612076
exercise-induced acute kidney injury, which causes pain in their sides and lower db key
back as well as nausea and vomiting that can last several hours. Orphanet 94088
html:p Because an excessive amount of uric acid passes through the kidneys to be db key
excreted in urine in people with renal hypouricemia, they have an increased risk SNOMED CT 236478009
of developing kidney stones (nephrolithiasis) formed from uric acid crystals.
These uric acid stones can damage the kidneys and lead to episodes of blood in
the urine (hematuria). Rarely, people with renal hypouricemia develop
life-threatening kidney failure.
related-gene-list
Renal tubular acidosis with deafness https://ghr.nlm.nih.gov/condition/renal-tubular-acidosis-with-deafness Renal tubular acidosis with deafness is a rare disorder; its prevalence is html:p Renal tubular acidosis with deafness is a disorder characterized by kidney ar autosomal recessive ATP6V0A4 https://ghr.nlm.nih.gov/gene/ATP6V0A4 AR dRTA with deafness db key 2014-03 2017-12-29
unknown. (renal) problems and hearing loss. The kidneys normally filter fluid and waste related-gene gene-symbol ghr-page AR dRTA with hearing loss GTR C0403554
products from the body and remove them in urine; however, in people with this ATP6V1B1 https://ghr.nlm.nih.gov/gene/ATP6V1B1 autosomal recessive distal renal tubular acidosis with deafness db key
disorder, the kidneys do not remove enough acidic compounds from the body. renal tubular acidosis type 1b MeSH D000141
Instead, the acids are absorbed back into the bloodstream, and the blood becomes renal tubular acidosis with progressive nerve deafness db key
too acidic. This chemical imbalance, called metabolic acidosis, can result in a renal tubular acidosis, autosomal recessive, with progressive nerve deafness OMIM 267300
range of signs and symptoms that vary in severity. Metabolic acidosis often renal tubular acidosis, distal, with progressive nerve deafness db key
causes nausea, vomiting, and dehydration; affected infants tend to have problems RTA with progressive nerve deafness Orphanet 93611
feeding and gaining weight (failure to thrive). Most children and adults with db key
renal tubular acidosis with deafness have short stature, and many develop kidney SNOMED CT 236532003
stones.
html:p The metabolic acidosis that occurs in renal tubular acidosis with deafness may
also lead to softening and weakening of the bones, called rickets in children
and osteomalacia in adults. This bone disorder is characterized by bone pain,
bowed legs, and difficulty walking. Rarely, people with renal tubular acidosis
with deafness have episodes of hypokalemic paralysis, a condition that causes
extreme muscle weakness associated with low levels of potassium in the blood
(hypokalemia).
html:p In people with renal tubular acidosis with deafness, hearing loss caused by
changes in the inner ear (sensorineural hearing loss) usually begins between
childhood and young adulthood, and gradually gets worse. An inner ear
abnormality affecting both ears occurs in most people with this disorder. This
feature, which is called enlarged vestibular aqueduct, can be seen with medical
imaging. The vestibular aqueduct is a bony canal that runs from the inner ear
into the temporal bone of the skull and toward the brain. The relationship
between enlarged vestibular aqueduct and hearing loss is unclear. In renal
tubular acidosis with deafness, enlarged vestibular aqueduct typically occurs in
individuals whose hearing loss begins in childhood.
related-gene-list
Renal tubular dysgenesis https://ghr.nlm.nih.gov/condition/renal-tubular-dysgenesis Renal tubular dysgenesis is a rare disorder, but its prevalence is unknown. html:p Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal ar autosomal recessive ACE https://ghr.nlm.nih.gov/gene/ACE Allanson Pantzar McLeod syndrome db key 2013-05 2017-12-29
腎小管發育不全症 development of the kidneys before birth. In particular, kidney structures called related-gene gene-symbol ghr-page primitive renal tubule syndrome GTR C0266313
proximal tubules are absent or underdeveloped. These structures help to AGT https://ghr.nlm.nih.gov/gene/AGT db key
reabsorb needed nutrients, water, and other materials into the blood and excrete related-gene gene-symbol ghr-page MeSH D007674
everything else into the urine. Without functional proximal tubules, the AGTR1 https://ghr.nlm.nih.gov/gene/AGTR1 db key
kidneys cannot produce urine (a condition called anuria). related-gene gene-symbol ghr-page OMIM 267430
html:p Fetal urine is the major component of the fluid that surrounds the fetus REN https://ghr.nlm.nih.gov/gene/REN db key
(amniotic fluid), and anuria leads to decreased amniotic fluid levels Orphanet 3033
(oligohydramnios). Amniotic fluid helps cushion and protect the fetus and plays db key
a role in the development of many organs, including the lungs. Oligohydramnios SNOMED CT 702397002
causes a set of abnormalities called the Potter sequence, which includes
distinctive facial features such as a flattened nose and large, low-set ears;
excess skin; inward- and upward-turning feet (clubfeet); and underdeveloped
lungs.
html:p Renal tubular dysgenesis also causes severe low blood pressure (hypotension). In
addition, bone development in the skull is abnormal in some affected
individuals, causing a large space between the bones of the skull (fontanelles).
html:p As a result of the serious health problems caused by renal tubular dysgenesis,
affected individuals usually die before birth, are stillborn, or die soon after
birth from respiratory failure. Rarely, with treatment, affected individuals
survive into childhood. Their blood pressure usually normalizes, but they
quickly develop chronic kidney disease, which is characterized by reduced kidney
function that worsens over time.
related-gene-list
Renpenning syndrome https://ghr.nlm.nih.gov/condition/renpenning-syndrome Renpenning syndrome is a rare disorder; its prevalence is unknown. More html:p Renpenning syndrome is a disorder that almost exclusively affects males, causing PQBP1 https://ghr.nlm.nih.gov/gene/PQBP1 Golabi-Ito-Hall syndrome db key 2012-06 2017-12-29
任贲宁综合征 than 60 affected individuals in at least 15 families have been identified. developmental delay, moderate to severe intellectual disability, and Hamel cerebropalatocardiac syndrome GTR C0796135
distinctive physical features. Individuals with Renpenning syndrome typically Porteous syndrome db key
have short stature and a small head size (microcephaly). Facial features Sutherland-Haan syndrome MeSH D038901
characteristic of this disorder include a long, narrow face; outside corners of X-linked intellectual deficit due to PQBP1 mutations db key
the eyes that point upward (upslanting palpebral fissures); a long, bulbous nose X-linked intellectual deficit, Renpenning type OMIM 309500
with a low-hanging separation between the nostrils (overhanging columella); a db key
shortened space between the nose and mouth (philtrum); and cup-shaped ears. Orphanet 3242
Males with Renpenning syndrome generally have small testes. Seizures and wasting db key
away (atrophy) of muscles used for movement (skeletal muscles) may also occur SNOMED CT 699669001
in this disorder.
html:p About 20 percent of individuals with Renpenning syndrome also have other
features, which may include a gap or split in structures that make up the eye
(coloboma), an opening in the roof of the mouth (cleft palate), heart
abnormalities, or malformations of the anus.
html:p Certain combinations of the features that often occur in Renpenning syndrome are
sometimes called by other names, such as Golabi-Ito-Hall syndrome or
Sutherland-Haan syndrome. However, all these syndromes, which have the same
genetic cause, are now generally grouped under the term Renpenning syndrome.
related-gene-list
Restless legs syndrome https://ghr.nlm.nih.gov/condition/restless-legs-syndrome Restless legs syndrome is one of the most common sleep and movement html:p Restless legs syndrome is a neurological condition that causes an irresistible ad autosomal dominant BTBD9 https://ghr.nlm.nih.gov/gene/BTBD9 Ekbom syndrome db key 2013-10 2017-12-29
不寧腿綜合症 disorders. It affects an estimated 5 to 10 percent of adults and 2 to 4 percent urge to move the legs. The movement is triggered by strange or uncomfortable code memo related-gene gene-symbol ghr-page Ekbom's syndrome GTR C1837285
不安腿综合征 of children in the United States. For unknown reasons, the disorder affects feelings, often described as crawling, pulling, or itching, deep within both u pattern unknown MAP2K5 https://ghr.nlm.nih.gov/gene/MAP2K5 restless leg syndrome db key
women more often than men. The prevalence of restless legs syndrome increases legs. The feelings usually occur while the affected person is sitting or lying related-gene gene-symbol ghr-page RLS GTR C1864874
with age. down and are worse at night. Movement, such as kicking, stretching, rubbing, or MEIS1 https://ghr.nlm.nih.gov/gene/MEIS1 WED db key
pacing, make the discomfort go away, at least temporarily. The unpleasant related-gene gene-symbol ghr-page Willis-Ekbom disease GTR C1864875
feelings and the resulting need to move the legs often make it difficult for an PTPRD https://ghr.nlm.nih.gov/gene/PTPRD db key
affected person to fall asleep or stay asleep. related-gene gene-symbol ghr-page GTR C1876177
html:p The signs and symptoms of restless legs syndrome range from mild to severe; SKOR1 https://ghr.nlm.nih.gov/gene/SKOR1 db key
people with mild cases may experience symptoms a few times a month, while those related-gene gene-symbol ghr-page GTR C1970010
with more severe cases may have symptoms every night. In severe cases, the TOX3 https://ghr.nlm.nih.gov/gene/TOX3 db key
uncomfortable feelings can affect the arms or other parts of the body in GTR C1970020
addition to the legs. db key
html:p Many people with restless legs syndrome also experience uncontrollable, GTR C2748506
repetitive leg movements that occur while they are sleeping or while relaxed or db key
drowsy. When these movements occur during sleep, they are called periodic limb GTR C3554664
movements of sleep (PLMS); when they occur while a person is awake, they are db key
called periodic limb movements of wakefulness (PLMW). It is unclear whether PLMS ICD-10-CM G25.81
and PLMW are features of restless legs syndrome itself or represent similar, db key
but separate, conditions. MeSH D012148
html:p Restless legs syndrome and PLMS can affect the quality and amount of sleep. As a db key
result of these conditions, affected individuals may have difficulty OMIM 102300
concentrating during the day, and some develop mood swings, depression, or other db key
health problems. OMIM 608831
html:p Researchers have described early-onset and late-onset forms of restless legs db key
syndrome. The early-onset form begins before age 45, and sometimes as early as OMIM 610438
childhood. The signs and symptoms of this form usually worsen slowly with time. db key
The late-onset form begins after age 45, and its signs and symptoms tend to OMIM 610439
worsen more rapidly. db key
OMIM 611185
db key
OMIM 611242
db key
OMIM 612853
db key
OMIM 615197
db key
related-gene-list SNOMED CT 32914008
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis https://ghr.nlm.nih.gov/condition/retinal-arterial-macroaneurysm-with-supravalvular-pulmonic-stenosis RAMSVPS is a rare disorder. Only a small number of affected individuals and html:p Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is ar autosomal recessive IGFBP7 https://ghr.nlm.nih.gov/gene/IGFBP7 familial retinal arterial macroaneurysm db key 2015-08 2017-12-29
視網膜動脈巨大動脈瘤伴瓣膜上肺動脈狹窄 families, all from Saudi Arabia, have been described in the medical literature. a disorder that affects blood vessels in the eyes and heart. The condition FRAM GTR C3280205
generally becomes apparent in infancy or childhood. RAMSVPS db key
html:p RAMSVPS damages the arteries in the light-sensitive tissue at the back of the ICD-10-CM H35.09
eye (the retina). These arteries gradually develop multiple small bulges called db key
beading. Eventually, larger bulges in the blood vessel walls (macroaneurysms) MeSH D015785
occur. These macroaneurysms can tear (rupture), leading to bleeding that can db key
spread into other areas of the eye and cause vision loss. OMIM 614224
html:p People with RAMSVPS also have a heart condition called supravalvular pulmonic
stenosis. Pulmonic stenosis is a narrowing that affects the pulmonic valve
between the heart and the lungs. The term "supravalvular" means that the
narrowing occurs just above the valve, in a blood vessel called the pulmonary
artery. Supravalvular pulmonic stenosis impairs blood flow into the lungs, where
blood normally picks up oxygen for distribution to cells and tissues throughout
the body. As a result, less oxygen is carried through the bloodstream, leading
to signs and symptoms that include shortness of breath; a rapid heartbeat;
fatigue; and swelling in the face, feet, or abdomen.
related-gene-list
Retinitis pigmentosa https://ghr.nlm.nih.gov/condition/retinitis-pigmentosa Retinitis pigmentosa is one of the most common inherited diseases of the html:p Retinitis pigmentosa is a group of related eye disorders that cause progressive ad autosomal dominant ABCA4 https://ghr.nlm.nih.gov/gene/ABCA4 pigmentary retinopathy db key 2010-10 2017-12-29
色素性視網膜炎 retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 vision loss. These disorders affect the retina, which is the layer of code memo related-gene gene-symbol ghr-page rod-cone dystrophy GTR C0035334
people in the United States and Europe. light-sensitive tissue at the back of the eye. In people with retinitis ar autosomal recessive BEST1 https://ghr.nlm.nih.gov/gene/BEST1 RP db key
pigmentosa, vision loss occurs as the light-sensing cells of the retina code memo related-gene gene-symbol ghr-page tapetoretinal degeneration GeneReviews rp-overview
gradually deteriorate. xr X-linked recessive C2orf71 https://ghr.nlm.nih.gov/gene/C2orf71 db key
html:p The first sign of retinitis pigmentosa is usually a loss of night vision, which related-gene gene-symbol ghr-page ICD-10-CM H35.52
becomes apparent in childhood. Problems with night vision can make it difficult CA4 https://ghr.nlm.nih.gov/gene/CA4 db key
to navigate in low light. Later, the disease causes blind spots to develop in related-gene gene-symbol ghr-page MeSH D012174
the side (peripheral) vision. Over time, these blind spots merge to produce CERKL https://ghr.nlm.nih.gov/gene/CERKL db key
tunnel vision. The disease progresses over years or decades to affect central related-gene gene-symbol ghr-page OMIM 268000
vision, which is needed for detailed tasks such as reading, driving, and CLRN1 https://ghr.nlm.nih.gov/gene/CLRN1 db key
recognizing faces. In adulthood, many people with retinitis pigmentosa become related-gene gene-symbol ghr-page Orphanet 791
legally blind. CNGA1 https://ghr.nlm.nih.gov/gene/CNGA1 db key
html:p The signs and symptoms of retinitis pigmentosa are most often limited to vision related-gene gene-symbol ghr-page SNOMED CT 28835009
loss. When the disorder occurs by itself, it is described as nonsyndromic. CNGB1 https://ghr.nlm.nih.gov/gene/CNGB1 db key
Researchers have identified several major types of nonsyndromic retinitis related-gene gene-symbol ghr-page SNOMED CT 80328002
pigmentosa, which are usually distinguished by their pattern of inheritance: CRB1 https://ghr.nlm.nih.gov/gene/CRB1
autosomal dominant, autosomal recessive, or X-linked. related-gene gene-symbol ghr-page
html:p Less commonly, retinitis pigmentosa occurs as part of syndromes that affect CRX https://ghr.nlm.nih.gov/gene/CRX
other organs and tissues in the body. These forms of the disease are described related-gene gene-symbol ghr-page
as syndromic. The most common form of syndromic retinitis pigmentosa is Usher EYS https://ghr.nlm.nih.gov/gene/EYS
syndrome, which is characterized by the combination of vision loss and hearing related-gene gene-symbol ghr-page
loss beginning early in life. Retinitis pigmentosa is also a feature of several FAM161A https://ghr.nlm.nih.gov/gene/FAM161A
other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and related-gene gene-symbol ghr-page
neuropathy, ataxia, and retinitis pigmentosa (NARP). FSCN2 https://ghr.nlm.nih.gov/gene/FSCN2
related-gene gene-symbol ghr-page
GUCA1B https://ghr.nlm.nih.gov/gene/GUCA1B
related-gene gene-symbol ghr-page
IDH3B https://ghr.nlm.nih.gov/gene/IDH3B
related-gene gene-symbol ghr-page
IMPDH1 https://ghr.nlm.nih.gov/gene/IMPDH1
related-gene gene-symbol ghr-page
IMPG2 https://ghr.nlm.nih.gov/gene/IMPG2
related-gene gene-symbol ghr-page
KLHL7 https://ghr.nlm.nih.gov/gene/KLHL7
related-gene gene-symbol ghr-page
LRAT https://ghr.nlm.nih.gov/gene/LRAT
related-gene gene-symbol ghr-page
MERTK https://ghr.nlm.nih.gov/gene/MERTK
related-gene gene-symbol ghr-page
MT-TS2 https://ghr.nlm.nih.gov/gene/MT-TS2
related-gene gene-symbol ghr-page
NR2E3 https://ghr.nlm.nih.gov/gene/NR2E3
related-gene gene-symbol ghr-page
NRL https://ghr.nlm.nih.gov/gene/NRL
related-gene gene-symbol ghr-page
PDE6A https://ghr.nlm.nih.gov/gene/PDE6A
related-gene gene-symbol ghr-page
PDE6B https://ghr.nlm.nih.gov/gene/PDE6B
related-gene gene-symbol ghr-page
PDE6G https://ghr.nlm.nih.gov/gene/PDE6G
related-gene gene-symbol ghr-page
PRCD https://ghr.nlm.nih.gov/gene/PRCD
related-gene gene-symbol ghr-page
PROM1 https://ghr.nlm.nih.gov/gene/PROM1
related-gene gene-symbol ghr-page
PRPF3 https://ghr.nlm.nih.gov/gene/PRPF3
related-gene gene-symbol ghr-page
PRPF8 https://ghr.nlm.nih.gov/gene/PRPF8
related-gene gene-symbol ghr-page
PRPF31 https://ghr.nlm.nih.gov/gene/PRPF31
related-gene gene-symbol ghr-page
PRPH2 https://ghr.nlm.nih.gov/gene/PRPH2
related-gene gene-symbol ghr-page
RBP3 https://ghr.nlm.nih.gov/gene/RBP3
related-gene gene-symbol ghr-page
RDH12 https://ghr.nlm.nih.gov/gene/RDH12
related-gene gene-symbol ghr-page
RGR https://ghr.nlm.nih.gov/gene/RGR
related-gene gene-symbol ghr-page
RHO https://ghr.nlm.nih.gov/gene/RHO
related-gene gene-symbol ghr-page
RLBP1 https://ghr.nlm.nih.gov/gene/RLBP1
related-gene gene-symbol ghr-page
ROM1 https://ghr.nlm.nih.gov/gene/ROM1
related-gene gene-symbol ghr-page
RP1 https://ghr.nlm.nih.gov/gene/RP1
related-gene gene-symbol ghr-page
RP2 https://ghr.nlm.nih.gov/gene/RP2
related-gene gene-symbol ghr-page
RP9 https://ghr.nlm.nih.gov/gene/RP9
related-gene gene-symbol ghr-page
RPE65 https://ghr.nlm.nih.gov/gene/RPE65
related-gene gene-symbol ghr-page
RPGR https://ghr.nlm.nih.gov/gene/RPGR
related-gene gene-symbol ghr-page
SAG https://ghr.nlm.nih.gov/gene/SAG
related-gene gene-symbol ghr-page
SEMA4A https://ghr.nlm.nih.gov/gene/SEMA4A
related-gene gene-symbol ghr-page
SNRNP200 https://ghr.nlm.nih.gov/gene/SNRNP200
related-gene gene-symbol ghr-page
SPATA7 https://ghr.nlm.nih.gov/gene/SPATA7
related-gene gene-symbol ghr-page
TOPORS https://ghr.nlm.nih.gov/gene/TOPORS
related-gene gene-symbol ghr-page
TTC8 https://ghr.nlm.nih.gov/gene/TTC8
related-gene gene-symbol ghr-page
TULP1 https://ghr.nlm.nih.gov/gene/TULP1
related-gene gene-symbol ghr-page
USH2A https://ghr.nlm.nih.gov/gene/USH2A
related-gene gene-symbol ghr-page
WDR19 https://ghr.nlm.nih.gov/gene/WDR19
related-gene gene-symbol ghr-page
ZNF513 https://ghr.nlm.nih.gov/gene/ZNF513
related-gene-list
Retinoblastoma https://ghr.nlm.nih.gov/condition/retinoblastoma Retinoblastoma is diagnosed in 250 to 350 children per year in the United html:p Retinoblastoma is a rare type of eye cancer that usually develops in early ad autosomal dominant MYCN https://ghr.nlm.nih.gov/gene/MYCN Glioma, retinal db key 2017-12 2017-12-29
视网膜母细胞瘤 States. It accounts for about 4 percent of all cancers in children younger than childhood, typically before the age of 5. This form of cancer develops in the related-gene gene-symbol ghr-page RB GTR C0035335
視網膜母細胞瘤 15 years. retina, which is the specialized light-sensitive tissue at the back of the eye RB1 https://ghr.nlm.nih.gov/gene/RB1 db key
that detects light and color. related-chromosome name ghr-page GeneReviews retinoblastoma
html:p In children with retinoblastoma, the disease often affects only one eye. 13 https://ghr.nlm.nih.gov/chromosome/13 db key
However, one out of three children with retinoblastoma develops cancer in both ICD-10-CM C69.2
eyes. The most common first sign of retinoblastoma is a visible whiteness in the db key
pupil called "cat's eye reflex" or leukocoria. This unusual whiteness is ICD-10-CM C69.20
particularly noticeable in dim light or in photographs taken with a flash. Other db key
signs and symptoms of retinoblastoma include crossed eyes or eyes that do not ICD-10-CM C69.21
point in the same direction (strabismus), which can cause squinting; a change in db key
the color of the colored part of the eye (iris); redness, soreness, or swelling ICD-10-CM C69.22
of the eyelids; and blindness or poor vision in the affected eye or eyes. db key
html:p Retinoblastoma is often curable when it is diagnosed early. However, if it is MeSH D012175
not treated promptly, this cancer can spread beyond the eye to other parts of db key
the body. This advanced form of retinoblastoma can be life-threatening. OMIM 180200
html:p When retinoblastoma is associated with a genetic change (mutation) that occurs db key
in all of the body's cells, it is known as hereditary (or germinal) Orphanet 790
retinoblastoma. People with this form of retinoblastoma typically develop cancer db key
in both eyes and also have an increased risk of developing several other SNOMED CT 370967009
cancers outside the eye. Specifically, they are more likely to develop a cancer
of the pineal gland in the brain (pineoblastoma), a type of bone cancer known as
osteosarcoma, cancers of soft tissues (such as muscle) called soft tissue
sarcomas, and an aggressive form of skin cancer called melanoma.
synonym-list db-key-list
Retroperitoneal fibrosis https://ghr.nlm.nih.gov/condition/retroperitoneal-fibrosis Retroperitoneal fibrosis occurs in 1 in 200,000 to 500,000 people per year. html:p Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar n not inherited synonym Ormond's disease key 2017-12-29
腹膜後纖維化 The disorder occurs approximately twice as often in men as it does in women, tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the code memo db-key C0494949
but the reason for this difference is unclear. membrane that surrounds the organs of the digestive system (the peritoneum). u pattern unknown key
This area is known as the retroperitoneal space. Retroperitoneal fibrosis can db-key D012185
occur at any age but appears most frequently between the ages of 40 and 60. key
html:p The inflamed tissue characteristic of retroperitoneal fibrosis typically causes db-key 228800
gradually increasing pain in the lower abdomen, back, or side. Other symptoms key
arise from blockage of blood flow to and from various parts of the lower body, db-key 49041
due to the development of scar tissue around blood vessels. The fibrosis usually key
develops first around the aorta, which is the large blood vessel that 49120005
distributes blood from the heart to the rest of the body. Additional blood
vessels including the inferior vena cava, which returns blood from the lower
part of the body to the heart, may also be involved. Obstruction of blood flow
to and from the legs can result in pain, changes in color, and swelling in these
limbs. Impairment of blood flow in the intestines may lead to death (necrosis)
of intestinal tissue, severe pain, and excessive bleeding (hemorrhage). In men,
reduced blood flow back toward the heart (venous flow) may cause swelling of the
scrotum.
html:p Because the kidneys are located in the retroperitoneal space, retroperitoneal
fibrosis may result in blockage of the ureters, which are tubes that carry urine
from each kidney to the bladder. Such blockages can lead to decreased or absent
urine flow and kidney failure. When the kidneys fail, toxic substances build up
in the blood and tissues, leading to nausea, vomiting, weight loss, itching, a
low number of red blood cells (anemia), and changes in brain function.
related-gene-list
Rett syndrome https://ghr.nlm.nih.gov/condition/rett-syndrome This condition affects an estimated 1 in 8,500 females. html:p Rett syndrome is a brain disorder that occurs almost exclusively in girls. The xd X-linked dominant MECP2 https://ghr.nlm.nih.gov/gene/MECP2 autism-dementia-ataxia-loss of purposeful hand use syndrome db key 2013-12 2017-12-29
蕾特氏症 most common form of the condition is known as classic Rett syndrome. After Rett disorder GTR C0035372
birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal Rett's disorder db key
development before developing severe problems with language and communication, Rett's syndrome GeneReviews rett
learning, coordination, and other brain functions. Early in childhood, affected RTS db key
girls lose purposeful use of their hands and begin making repeated hand RTT ICD-10-CM F84.2
wringing, washing, or clapping motions. They tend to grow more slowly than other db key
children and have a small head size (microcephaly). Other signs and symptoms MeSH D015518
that can develop include breathing abnormalities, seizures, an abnormal db key
side-to-side curvature of the spine (scoliosis), and sleep disturbances. OMIM 312750
html:p Researchers have described several variant or atypical forms of Rett syndrome, db key
which can be milder or more severe than the classic form. Orphanet 778
Reye Syndrome
db key
related-gene-list SNOMED CT 68618008
Rheumatoid arthritis https://ghr.nlm.nih.gov/condition/rheumatoid-arthritis Rheumatoid arthritis affects about 1.3 million adults in the United States. html:p Rheumatoid arthritis is a disease that causes chronic abnormal inflammation, u pattern unknown AFF3 https://ghr.nlm.nih.gov/gene/AFF3 arthritis, rheumatoid db key 2013-09 2017-12-29
類風濕性關節炎 Worldwide, it is estimated to occur in up to 1 percent of the population. The primarily affecting the joints. The most common signs and symptoms are pain, related-gene gene-symbol ghr-page RA GTR C0003873
disease is two to three times more common in women than in men, which may be swelling, and stiffness of the joints. Small joints in the hands and feet are ARID5B https://ghr.nlm.nih.gov/gene/ARID5B db key
related to hormonal factors. involved most often, although larger joints (such as the shoulders, hips, and related-gene gene-symbol ghr-page ICD-10-CM M05
knees) may become involved later in the disease. Joints are typically affected BLK https://ghr.nlm.nih.gov/gene/BLK db key
in a symmetrical pattern; for example, if joints in the hand are affected, both related-gene gene-symbol ghr-page ICD-10-CM M05.0
hands tend to be involved. People with rheumatoid arthritis often report that C5 https://ghr.nlm.nih.gov/gene/C5 db key
their joint pain and stiffness is worse when getting out of bed in the morning related-gene gene-symbol ghr-page ICD-10-CM M05.00
or after a long rest. CCL21 https://ghr.nlm.nih.gov/gene/CCL21 db key
html:p Rheumatoid arthritis can also cause inflammation of other tissues and organs, related-gene gene-symbol ghr-page ICD-10-CM M05.01
including the eyes, lungs, and blood vessels. Additional signs and symptoms of CCR6 https://ghr.nlm.nih.gov/gene/CCR6 db key
the condition can include a loss of energy, a low fever, weight loss, and a related-gene gene-symbol ghr-page ICD-10-CM M05.1
shortage of red blood cells (anemia). Some affected individuals develop CD2 https://ghr.nlm.nih.gov/gene/CD2 db key
rheumatoid nodules, which are firm lumps of noncancerous tissue that can grow related-gene gene-symbol ghr-page ICD-10-CM M05.02
under the skin and elsewhere in the body. CD5 https://ghr.nlm.nih.gov/gene/CD5 db key
html:p The signs and symptoms of rheumatoid arthritis usually appear in mid- to late related-gene gene-symbol ghr-page ICD-10-CM M05.2
adulthood. Many affected people have episodes of symptoms (flares) followed by CD28 https://ghr.nlm.nih.gov/gene/CD28 db key
periods with no symptoms (remissions) for the rest of their lives. In severe related-gene gene-symbol ghr-page ICD-10-CM M05.03
cases, affected individuals have continuous health problems related to the CD40 https://ghr.nlm.nih.gov/gene/CD40 db key
disease for many years. The abnormal inflammation can lead to severe joint related-gene gene-symbol ghr-page ICD-10-CM M05.3
damage, which limits movement and can cause significant disability. CD58 https://ghr.nlm.nih.gov/gene/CD58 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.04
CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.4
FCGR2A https://ghr.nlm.nih.gov/gene/FCGR2A db key
related-gene gene-symbol ghr-page ICD-10-CM M05.05
FCGR2B https://ghr.nlm.nih.gov/gene/FCGR2B db key
related-gene gene-symbol ghr-page ICD-10-CM M05.5
GATA3 https://ghr.nlm.nih.gov/gene/GATA3 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.06
HLA-B https://ghr.nlm.nih.gov/gene/HLA-B db key
related-gene gene-symbol ghr-page ICD-10-CM M05.6
HLA-DPB1 https://ghr.nlm.nih.gov/gene/HLA-DPB1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.07
HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.7
IKZF3 https://ghr.nlm.nih.gov/gene/IKZF3 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.8
IL2 https://ghr.nlm.nih.gov/gene/IL2 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.09
IL2RA https://ghr.nlm.nih.gov/gene/IL2RA db key
related-gene gene-symbol ghr-page ICD-10-CM M05.9
IL2RB https://ghr.nlm.nih.gov/gene/IL2RB db key
related-gene gene-symbol ghr-page ICD-10-CM M05.10
IL6R https://ghr.nlm.nih.gov/gene/IL6R db key
related-gene gene-symbol ghr-page ICD-10-CM M05.011
IL6ST https://ghr.nlm.nih.gov/gene/IL6ST db key
related-gene gene-symbol ghr-page ICD-10-CM M05.11
IL21 https://ghr.nlm.nih.gov/gene/IL21 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.012
IRAK1 https://ghr.nlm.nih.gov/gene/IRAK1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.12
IRF5 https://ghr.nlm.nih.gov/gene/IRF5 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.13
IRF8 https://ghr.nlm.nih.gov/gene/IRF8 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.14
KIF5A https://ghr.nlm.nih.gov/gene/KIF5A db key
related-gene gene-symbol ghr-page ICD-10-CM M05.15
NFKBIL1 https://ghr.nlm.nih.gov/gene/NFKBIL1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.16
PADI4 https://ghr.nlm.nih.gov/gene/PADI4 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.17
PIP4K2C https://ghr.nlm.nih.gov/gene/PIP4K2C db key
related-gene gene-symbol ghr-page ICD-10-CM M05.019
POU3F1 https://ghr.nlm.nih.gov/gene/POU3F1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.19
PRDM1 https://ghr.nlm.nih.gov/gene/PRDM1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.20
PRKCQ https://ghr.nlm.nih.gov/gene/PRKCQ db key
related-gene gene-symbol ghr-page ICD-10-CM M05.021
PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.21
PTPRC https://ghr.nlm.nih.gov/gene/PTPRC db key
related-gene gene-symbol ghr-page ICD-10-CM M05.022
PXK https://ghr.nlm.nih.gov/gene/PXK db key
related-gene gene-symbol ghr-page ICD-10-CM M05.22
RASGRP1 https://ghr.nlm.nih.gov/gene/RASGRP1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.23
RBPJ https://ghr.nlm.nih.gov/gene/RBPJ db key
related-gene gene-symbol ghr-page ICD-10-CM M05.24
RCAN1 https://ghr.nlm.nih.gov/gene/RCAN1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.25
REL https://ghr.nlm.nih.gov/gene/REL db key
related-gene gene-symbol ghr-page ICD-10-CM M05.26
RUNX1 https://ghr.nlm.nih.gov/gene/RUNX1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.27
SPRED2 https://ghr.nlm.nih.gov/gene/SPRED2 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.029
STAT4 https://ghr.nlm.nih.gov/gene/STAT4 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.29
TAGAP https://ghr.nlm.nih.gov/gene/TAGAP db key
related-gene gene-symbol ghr-page ICD-10-CM M05.30
TLE3 https://ghr.nlm.nih.gov/gene/TLE3 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.031
TNFAIP3 https://ghr.nlm.nih.gov/gene/TNFAIP3 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.31
TNFRSF14 https://ghr.nlm.nih.gov/gene/TNFRSF14 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.032
TRAF1 https://ghr.nlm.nih.gov/gene/TRAF1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.32
TRAF6 https://ghr.nlm.nih.gov/gene/TRAF6 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.33
TYK2 https://ghr.nlm.nih.gov/gene/TYK2 db key
ICD-10-CM M05.34
db key
ICD-10-CM M05.35
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ICD-10-CM M05.36
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ICD-10-CM M05.37
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ICD-10-CM M05.039
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ICD-10-CM M05.39
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ICD-10-CM M05.40
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ICD-10-CM M05.041
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ICD-10-CM M05.41
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ICD-10-CM M05.042
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ICD-10-CM M05.42
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ICD-10-CM M05.43
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ICD-10-CM M05.44
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ICD-10-CM M05.45
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ICD-10-CM M05.46
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ICD-10-CM M05.47
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ICD-10-CM M05.049
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ICD-10-CM M05.49
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ICD-10-CM M05.50
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ICD-10-CM M05.051
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ICD-10-CM M05.51
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ICD-10-CM M05.052
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ICD-10-CM M05.52
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ICD-10-CM M05.53
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ICD-10-CM M05.54
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ICD-10-CM M05.55
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ICD-10-CM M05.56
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ICD-10-CM M05.57
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ICD-10-CM M05.059
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ICD-10-CM M05.59
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ICD-10-CM M05.60
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ICD-10-CM M05.061
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ICD-10-CM M05.61
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ICD-10-CM M05.062
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ICD-10-CM M05.62
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ICD-10-CM M05.63
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ICD-10-CM M05.64
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ICD-10-CM M05.65
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ICD-10-CM M05.66
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ICD-10-CM M05.67
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ICD-10-CM M05.069
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ICD-10-CM M05.69
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ICD-10-CM M05.70
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ICD-10-CM M05.071
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ICD-10-CM M05.71
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ICD-10-CM M05.072
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ICD-10-CM M05.72
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ICD-10-CM M05.73
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ICD-10-CM M05.74
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ICD-10-CM M05.75
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ICD-10-CM M05.76
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ICD-10-CM M05.77
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ICD-10-CM M05.079
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ICD-10-CM M05.79
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ICD-10-CM M05.80
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ICD-10-CM M05.81
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ICD-10-CM M05.82
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ICD-10-CM M05.83
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ICD-10-CM M05.84
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ICD-10-CM M05.85
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ICD-10-CM M05.86
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ICD-10-CM M05.87
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ICD-10-CM M05.89
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ICD-10-CM M05.111
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ICD-10-CM M05.112
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ICD-10-CM M05.119
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ICD-10-CM M05.121
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ICD-10-CM M05.122
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ICD-10-CM M05.129
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ICD-10-CM M05.131
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ICD-10-CM M05.132
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ICD-10-CM M05.139
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ICD-10-CM M05.141
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ICD-10-CM M05.142
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ICD-10-CM M05.149
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ICD-10-CM M05.151
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ICD-10-CM M05.152
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ICD-10-CM M05.159
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ICD-10-CM M05.161
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ICD-10-CM M05.162
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ICD-10-CM M05.169
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ICD-10-CM M05.171
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ICD-10-CM M05.172
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ICD-10-CM M05.179
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ICD-10-CM M05.211
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ICD-10-CM M05.212
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ICD-10-CM M05.219
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ICD-10-CM M05.221
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ICD-10-CM M05.222
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ICD-10-CM M05.229
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ICD-10-CM M05.231
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ICD-10-CM M05.232
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ICD-10-CM M05.239
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ICD-10-CM M05.241
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ICD-10-CM M05.242
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ICD-10-CM M05.249
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ICD-10-CM M05.251
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ICD-10-CM M05.252
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ICD-10-CM M05.259
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ICD-10-CM M05.261
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ICD-10-CM M05.262
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ICD-10-CM M05.269
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ICD-10-CM M05.271
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ICD-10-CM M05.272
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ICD-10-CM M05.279
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ICD-10-CM M05.311
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ICD-10-CM M05.312
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ICD-10-CM M05.319
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ICD-10-CM M05.321
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ICD-10-CM M05.322
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ICD-10-CM M05.329
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ICD-10-CM M05.331
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ICD-10-CM M05.332
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ICD-10-CM M05.339
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ICD-10-CM M05.341
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ICD-10-CM M05.342
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ICD-10-CM M05.349
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ICD-10-CM M05.351
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ICD-10-CM M05.352
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ICD-10-CM M05.359
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ICD-10-CM M05.361
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ICD-10-CM M05.362
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ICD-10-CM M05.369
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ICD-10-CM M05.371
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ICD-10-CM M05.372
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ICD-10-CM M05.379
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ICD-10-CM M05.411
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ICD-10-CM M05.412
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ICD-10-CM M05.419
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ICD-10-CM M05.421
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ICD-10-CM M05.422
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ICD-10-CM M05.429
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ICD-10-CM M05.431
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ICD-10-CM M05.432
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ICD-10-CM M05.439
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ICD-10-CM M05.441
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ICD-10-CM M05.442
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ICD-10-CM M05.449
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ICD-10-CM M05.451
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ICD-10-CM M05.452
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ICD-10-CM M05.459
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ICD-10-CM M05.461
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ICD-10-CM M05.462
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ICD-10-CM M05.469
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ICD-10-CM M05.471
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ICD-10-CM M05.472
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ICD-10-CM M05.479
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ICD-10-CM M05.511
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ICD-10-CM M05.512
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ICD-10-CM M05.519
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ICD-10-CM M05.521
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ICD-10-CM M05.522
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ICD-10-CM M05.529
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ICD-10-CM M05.531
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ICD-10-CM M05.532
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ICD-10-CM M05.539
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ICD-10-CM M05.541
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ICD-10-CM M05.542
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ICD-10-CM M05.549
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ICD-10-CM M05.551
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ICD-10-CM M05.552
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ICD-10-CM M05.559
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ICD-10-CM M05.561
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ICD-10-CM M05.562
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ICD-10-CM M05.569
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ICD-10-CM M05.571
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ICD-10-CM M05.572
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ICD-10-CM M05.579
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ICD-10-CM M05.611
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ICD-10-CM M05.612
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ICD-10-CM M05.619
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ICD-10-CM M05.621
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ICD-10-CM M05.622
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ICD-10-CM M05.629
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ICD-10-CM M05.631
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ICD-10-CM M05.632
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ICD-10-CM M05.639
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ICD-10-CM M05.641
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ICD-10-CM M05.642
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ICD-10-CM M05.649
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ICD-10-CM M05.651
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ICD-10-CM M05.652
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ICD-10-CM M05.659
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ICD-10-CM M05.661
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ICD-10-CM M05.662
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ICD-10-CM M05.669
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ICD-10-CM M05.671
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ICD-10-CM M05.672
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ICD-10-CM M05.679
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ICD-10-CM M05.711
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ICD-10-CM M05.712
db key
ICD-10-CM M05.719
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ICD-10-CM M05.721
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ICD-10-CM M05.722
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ICD-10-CM M05.729
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ICD-10-CM M05.731
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ICD-10-CM M05.732
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ICD-10-CM M05.739
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ICD-10-CM M05.741
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ICD-10-CM M05.742
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ICD-10-CM M05.749
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ICD-10-CM M05.751
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ICD-10-CM M05.752
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ICD-10-CM M05.759
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ICD-10-CM M05.761
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ICD-10-CM M05.762
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ICD-10-CM M05.769
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ICD-10-CM M05.771
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ICD-10-CM M05.772
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ICD-10-CM M05.779
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ICD-10-CM M05.811
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ICD-10-CM M05.812
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ICD-10-CM M05.819
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ICD-10-CM M05.821
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ICD-10-CM M05.822
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ICD-10-CM M05.829
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ICD-10-CM M05.831
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ICD-10-CM M05.832
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ICD-10-CM M05.839
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ICD-10-CM M05.841
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ICD-10-CM M05.842
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ICD-10-CM M05.849
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ICD-10-CM M05.851
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ICD-10-CM M05.852
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ICD-10-CM M05.859
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ICD-10-CM M05.861
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ICD-10-CM M05.862
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ICD-10-CM M05.869
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ICD-10-CM M05.871
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ICD-10-CM M05.872
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ICD-10-CM M05.879
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ICD-10-CM M06
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ICD-10-CM M06.0
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ICD-10-CM M06.00
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ICD-10-CM M06.01
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ICD-10-CM M06.02
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ICD-10-CM M06.03
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ICD-10-CM M06.04
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ICD-10-CM M06.05
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ICD-10-CM M06.06
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ICD-10-CM M06.07
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ICD-10-CM M06.08
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ICD-10-CM M06.8
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ICD-10-CM M06.09
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ICD-10-CM M06.9
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ICD-10-CM M06.011
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ICD-10-CM M06.012
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ICD-10-CM M06.019
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ICD-10-CM M06.021
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ICD-10-CM M06.022
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ICD-10-CM M06.029
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ICD-10-CM M06.031
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ICD-10-CM M06.032
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ICD-10-CM M06.039
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ICD-10-CM M06.041
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ICD-10-CM M06.042
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ICD-10-CM M06.049
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ICD-10-CM M06.051
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ICD-10-CM M06.052
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ICD-10-CM M06.059
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ICD-10-CM M06.061
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ICD-10-CM M06.062
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ICD-10-CM M06.069
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ICD-10-CM M06.071
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ICD-10-CM M06.072
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ICD-10-CM M06.079
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ICD-10-CM M06.80
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ICD-10-CM M06.81
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ICD-10-CM M06.82
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ICD-10-CM M06.83
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ICD-10-CM M06.84
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ICD-10-CM M06.85
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ICD-10-CM M06.86
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ICD-10-CM M06.87
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ICD-10-CM M06.88
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ICD-10-CM M06.89
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ICD-10-CM M06.811
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ICD-10-CM M06.812
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ICD-10-CM M06.819
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ICD-10-CM M06.821
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ICD-10-CM M06.822
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ICD-10-CM M06.829
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ICD-10-CM M06.831
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ICD-10-CM M06.832
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ICD-10-CM M06.839
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ICD-10-CM M06.841
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ICD-10-CM M06.842
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ICD-10-CM M06.849
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ICD-10-CM M06.851
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ICD-10-CM M06.852
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ICD-10-CM M06.859
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ICD-10-CM M06.861
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ICD-10-CM M06.862
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ICD-10-CM M06.869
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ICD-10-CM M06.871
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ICD-10-CM M06.872
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ICD-10-CM M06.879
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ICD-10-CM M08.0
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ICD-10-CM M08.00
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ICD-10-CM M08.01
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ICD-10-CM M08.02
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ICD-10-CM M08.03
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ICD-10-CM M08.04
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ICD-10-CM M08.05
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ICD-10-CM M08.06
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ICD-10-CM M08.07
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ICD-10-CM M08.08
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ICD-10-CM M08.09
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ICD-10-CM M08.011
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ICD-10-CM M08.012
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ICD-10-CM M08.019
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ICD-10-CM M08.021
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ICD-10-CM M08.022
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ICD-10-CM M08.029
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ICD-10-CM M08.031
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ICD-10-CM M08.032
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ICD-10-CM M08.039
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ICD-10-CM M08.041
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ICD-10-CM M08.042
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ICD-10-CM M08.049
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ICD-10-CM M08.051
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ICD-10-CM M08.052
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ICD-10-CM M08.059
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ICD-10-CM M08.061
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ICD-10-CM M08.062
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ICD-10-CM M08.069
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ICD-10-CM M08.071
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ICD-10-CM M08.072
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ICD-10-CM M08.079
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MeSH D001172
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OMIM 180300
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Orphanet 284130
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related-gene-list SNOMED CT 69896004
Rhizomelic chondrodysplasia punctata https://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata Rhizomelic chondrodysplasia punctata affects fewer than 1 in 100,000 people html:p Rhizomelic chondrodysplasia punctata is a condition that impairs the normal ar autosomal recessive AGPS https://ghr.nlm.nih.gov/gene/AGPS chondrodysplasia punctata, rhizomelic db key 2010-07 2017-12-29
肢近端型點狀軟骨發育不良 worldwide. RCDP1 is more common than RCDP2 or RCDP3. development of many parts of the body. The major features of this disorder related-gene gene-symbol ghr-page RCDP GTR C1838612
include skeletal abnormalities, distinctive facial features, intellectual GNPAT https://ghr.nlm.nih.gov/gene/GNPAT RCP db key
disability, and respiratory problems. related-gene gene-symbol ghr-page GTR C1857242
html:p Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones PEX7 https://ghr.nlm.nih.gov/gene/PEX7 db key
in the upper arms and thighs (rhizomelia). Affected individuals also have a GTR C1859133
specific bone abnormality called chondrodysplasia punctata, which affects the db key
growth of the long bones and can be seen on x-rays. People with rhizomelic GeneReviews rcdp
chondrodysplasia punctata often develop joint deformities (contractures) that db key
make the joints stiff and painful. ICD-10-CM E71.540
html:p Distinctive facial features are also seen with rhizomelic chondrodysplasia db key
punctata. These include a prominent forehead, widely set eyes (hypertelorism), a MeSH D018902
sunken appearance of the middle of the face (midface hypoplasia), a small nose db key
with upturned nostrils, and full cheeks. Additionally, almost all affected OMIM 215100
individuals have clouding of the lenses of the eyes (cataracts). The cataracts db key
are apparent at birth (congenital) or develop in early infancy. OMIM 222765
html:p Rhizomelic chondrodysplasia punctata is associated with significantly delayed db key
development and severe intellectual disability. Most children with this OMIM 600121
condition do not achieve developmental milestones such as sitting without db key
support, feeding themselves, or speaking in phrases. Affected infants grow much Orphanet 177
more slowly than other children their age, and many also have seizures. db key
Recurrent respiratory infections and life-threatening breathing problems are SNOMED CT 56692003
common. Because of their severe health problems, most people with rhizomelic
chondrodysplasia punctata survive only into childhood. It is rare for affected
children to live past age 10. However, a few individuals with milder features of
the condition have lived into early adulthood.
html:p Researchers have described three types of rhizomelic chondrodysplasia punctata:
type 1 (RCDP1), type 2 (RCDP2), and type 3 (RCDP3). The types have similar
features and are distinguished by their genetic cause.
RHO-Related Retinitis Pigmentosa
體染色體顯性色素性視網膜炎
related-gene-list
Riboflavin transporter deficiency neuronopathy https://ghr.nlm.nih.gov/condition/riboflavin-transporter-deficiency-neuronopathy Riboflavin transporter deficiency neuronopathy is a rare condition. html:p Riboflavin transporter deficiency neuronopathy is a disorder that affects nerve ar autosomal recessive SLC52A2 https://ghr.nlm.nih.gov/gene/SLC52A2 Brown-Vialetto-Van Laere syndrome db key 2016-01 2017-12-29
核黃素轉運蛋白缺乏神經元病 Approximately 100 cases have been reported in the scientific literature. cells (neurons). Affected individuals typically have hearing loss caused by related-gene gene-symbol ghr-page BVVLS GTR C0796274
nerve damage in the inner ear (sensorineural hearing loss) and signs of damage SLC52A3 https://ghr.nlm.nih.gov/gene/SLC52A3 Fazio-Londe disease db key
to other nerves. Fazio-Londe syndrome GeneReviews riboflavin-tn
html:p In addition to nerves in the inner ear, riboflavin transporter deficiency pontobulbar palsy with deafness db key
neuronopathy involves nerves found in the part of the brain that is connected to progressive bulbar palsy with sensorineural deafness MeSH D010244
the spinal cord (the brainstem), specifically in a region of the brainstem riboflavin transporter deficiency db key
known as the pontobulbar region. Damage to these nerves causes paralysis of the OMIM 211530
muscles controlled by them, a condition called pontobulbar palsy. Nerves in the db key
pontobulbar region help control several voluntary muscle activities, including Orphanet 97229
breathing, speaking, and moving the limbs. As a result of pontobulbar palsy, db key
people with riboflavin transporter deficiency neuronopathy can have breathing SNOMED CT 699866005
problems; slurred speech; and muscle weakness in the face, neck, shoulders, and
limbs. Affected individuals can also have muscle stiffness (spasticity) and
exaggerated reflexes.
html:p The age at which riboflavin transporter deficiency neuronopathy begins varies
from infancy to young adulthood. When the condition begins in infancy, the first
symptom is often breathing problems caused by nerve damage, which can be
life-threatening. When the condition begins in children or young adults,
sensorineural hearing loss usually occurs first, followed by signs of
pontobulbar palsy.
html:p If not treated, the signs and symptoms of riboflavin transporter deficiency
neuronopathy worsen over time. Severe breathing problems and respiratory
infections are the usual cause of death in people with this condition. Without
treatment, affected infants typically survive less than one year. However, those
who develop the condition after age 4 often survive more than 10 years.
html:p Riboflavin transporter deficiency neuronopathy encompasses two conditions that
were once considered distinct disorders: Brown-Vialetto-Van Laere syndrome
(BVVLS) and Fazio-Londe disease. The two conditions have similar signs and
symptoms, but Fazio-Londe disease does not include sensorineural hearing loss.
Because these two conditions share a genetic cause and have overlapping
features, researchers determined that they are forms of a single disorder.
related-gene-list
Ring chromosome 14 syndrome https://ghr.nlm.nih.gov/condition/ring-chromosome-14-syndrome Ring chromosome 14 syndrome appears to be a rare condition, although its html:p Ring chromosome 14 syndrome is a condition characterized by seizures and n not inherited 14 https://ghr.nlm.nih.gov/chromosome/14 ring 14 db key 2015-10 2017-12-29
環染色體14綜合症 prevalence is unknown. More than 50 affected individuals have been reported in intellectual disability. Recurrent seizures (epilepsy) develop in infancy or ring 14 syndrome GTR C2930916
the medical literature. early childhood. In many cases, the seizures are resistant to treatment with ring chromosome 14 db key
anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have MeSH D012303
some degree of intellectual disability or learning problems. Development may be db key
delayed, particularly the development of speech and of motor skills such as Orphanet 1440
sitting, standing, and walking. db key
html:p Additional features of ring chromosome 14 syndrome can include slow growth and SNOMED CT 702345009
short stature, a small head (microcephaly), puffy hands and/or feet caused by a
buildup of fluid (lymphedema), and subtle differences in facial features. Some
affected individuals have problems with their immune system that lead to
recurrent infections, especially involving the respiratory system. Abnormalities
of the retina, the specialized tissue at the back of the eye that detects light
and color, have also been reported in some people with this condition. These
changes typically do not affect vision. Major birth defects are rarely seen with
ring chromosome 14 syndrome.
related-gene-list
Ring chromosome 20 syndrome https://ghr.nlm.nih.gov/condition/ring-chromosome-20-syndrome Ring chromosome 20 syndrome appears to be a rare condition, although its html:p Ring chromosome 20 syndrome is a condition that affects the normal development n not inherited 20 https://ghr.nlm.nih.gov/chromosome/20 r(20) syndrome db key 2009-05 2017-12-29
環染色體20綜合症 prevalence is unknown. More than 60 affected individuals have been reported in and function of the brain. The most common feature of this condition is ring 20 syndrome GTR C0265482
the medical literature. recurrent seizures (epilepsy) in childhood. The seizures may occur during the ring chromosome 20 db key
day or at night during sleep. They are described as partial seizures because ring chromosome 20 epilepsy syndrome MeSH D012303
they affect only one area of the brain, a region called the frontal lobe. In db key
many cases, the seizures are complex and resistant to treatment with Orphanet 1444
anti-epileptic drugs. Prolonged seizure episodes known as non-convulsive status db key
epilepticus also appear to be characteristic of ring chromosome 20 syndrome. SNOMED CT 23686004
These episodes involve confusion and behavioral changes.
html:p Most people with ring chromosome 20 syndrome also have some degree of
intellectual disability and behavioral difficulties. Although these problems can
appear either before or after the onset of epilepsy, they tend to worsen after
seizures develop. Additional features of this condition can include slow growth
and short stature, a small head (microcephaly), and subtle differences in facial
features. Major birth defects are rarely seen with ring chromosome 20 syndrome.
related-gene-list
Rippling muscle disease https://ghr.nlm.nih.gov/condition/rippling-muscle-disease The prevalence of rippling muscle disease is unknown. html:p Rippling muscle disease is a condition in which the muscles are unusually ad autosomal dominant CAV3 https://ghr.nlm.nih.gov/gene/CAV3 rippling muscle syndrome db key 2014-05 2017-12-29
sensitive to movement or pressure (irritable). The muscles near the center of code memo RMD GTR C1853698
the body (proximal muscles) are most affected, especially the thighs. In most ar autosomal recessive db key
people with this condition, stretching the muscle causes visible ripples to GeneReviews cav
spread across the muscle, lasting 5 to 20 seconds. A bump or other sudden impact db key
on the muscle causes it to bunch up (percussion-induced muscle mounding) or MeSH D020967
exhibit repetitive tensing (percussion-induced rapid contraction). The rapid db key
contractions can continue for up to 30 seconds and may be painful. OMIM 600332
html:p People with rippling muscle disease may have overgrowth (hypertrophy) of some db key
muscles, especially in the calf. Some affected individuals have an abnormal OMIM 606072
pattern of walking (gait), such as walking on tiptoe. They may experience db key
fatigue, cramps, or muscle stiffness, especially after exercise or in cold SNOMED CT 709281006
temperatures.
html:p The age of onset of rippling muscle disease varies widely, but it often begins
in late childhood or adolescence. Rippling muscles may also occur as a feature
of other muscle disorders such as limb-girdle muscular dystrophy.
related-gene-list
RNAse T2-deficient leukoencephalopathy https://ghr.nlm.nih.gov/condition/rnase-t2-deficient-leukoencephalopathy The prevalence of RNAse T2-deficient leukoencephalopathy is unknown. About html:p RNAse T2-deficient leukoencephalopathy is a disorder that affects the brain. ar autosomal recessive RNASET2 https://ghr.nlm.nih.gov/gene/RNASET2 cystic leukoencephalopathy without megalencephaly db key 2016-11 2017-12-29
RNA酶T2缺陷性白質腦病 50 people with the signs and symptoms of this disorder have been described in People with RNAse T2-deficient leukoencephalopathy have neurological problems LBATC GTR C2751843
the medical literature. However, only about a quarter of these individuals have that become apparent during infancy; the problems generally do not worsen over leukoencephalopathy with bilateral anterior temporal lobe cysts db key
been confirmed to have the same genetic change that causes RNAse T2-deficient time (progress). Most affected individuals have severe intellectual disability; RNASET2-deficient cystic leukoencephalopathy GeneReviews leukodys-ov
leukoencephalopathy. Researchers suggest that additional genetic changes or muscle stiffness (spasticity); and a delay in developing motor skills such as db key
other causes may also result in the same pattern of signs and symptoms sitting, crawling, and walking. Some do not learn to walk, and most do not MeSH D020279
(phenotype). develop the ability to speak. Other neurological features that can occur in db key
RNAse T2-deficient leukoencephalopathy include hearing loss caused by OMIM 612951
abnormalities in the inner ear (sensorineural deafness), seizures, involuntary db key
writhing movements of the hands (athetosis), uncontrolled muscle tensing Orphanet 85136
(dystonia), and involuntary eye movements (nystagmus). In addition to the db key
neurological problems associated with this disorder, some affected individuals SNOMED CT 720825005
have unusual facial features sometimes described as a "doll-like face."
html:p The neurological problems in this disorder are caused by abnormalities in the
brain. People with this condition have leukoencephalopathy, an abnormality of
the brain's white matter that can be detected with medical imaging. White matter
consists of nerve fibers covered by a fatty substance called myelin. Myelin
insulates nerve fibers and promotes the rapid transmission of nerve impulses. In
people with RNAse T2-deficient leukoencephalopathy, myelin is not made in
sufficient amounts during development, leading to patchy white matter
abnormalities (lesions) in the brain. In addition, individuals with RNAse
T2-deficient leukoencephalopathy may have cysts in regions of the brain called
the temporal lobes and enlargement of the fluid-filled cavities (ventricles)
near the center of the brain. The white matter lesions are primarily
concentrated around the cysts and the ventricles. An abnormally small head and
brain size (microcephaly) often occurs in this disorder.
related-gene-list
Roberts syndrome https://ghr.nlm.nih.gov/condition/roberts-syndrome Roberts syndrome is a rare disorder; approximately 150 affected individuals html:p Roberts syndrome is a genetic disorder characterized by limb and facial ar autosomal recessive ESCO2 https://ghr.nlm.nih.gov/gene/ESCO2 Appelt-Gerken-Lenz syndrome db key 2009-01 2017-12-29
羅伯茨綜合症 have been reported. abnormalities. Affected individuals also grow slowly before and after birth. Hypomelia hypotrichosis facial hemangioma syndrome GTR C0392475
Mild to severe intellectual impairment occurs in half of all people with Roberts Pseudothalidomide syndrome db key
syndrome. RBS GeneReviews rbs
html:p Children with Roberts syndrome are born with abnormalities of all four limbs. Roberts-SC phocomelia syndrome db key
They have shortened arm and leg bones (hypomelia), particularly the bones in SC phocomelia syndrome MeSH D000015
their forearms and lower legs. In severe cases, the limbs may be so short that SC pseudothalidomide syndrome db key
the hands and feet are located very close to the body (phocomelia). People with SC syndrome OMIM 268300
Roberts syndrome may also have abnormal or missing fingers and toes, and joint tetraphocomelia-cleft palate syndrome db key
deformities (contractures) commonly occur at the elbows and knees. The limb OMIM 269000
abnormalities are very similar on the right and left sides of the body, but arms db key
are usually more severely affected than legs. Orphanet 3103
html:p Individuals with Roberts syndrome typically have numerous facial abnormalities, db key
including an opening in the lip (a cleft lip) with or without an opening in the SNOMED CT 48718006
roof of the mouth (cleft palate), a small chin (micrognathia), ear
abnormalities, wide-set eyes (hypertelorism), outer corners of the eyes that
point downward (down-slanting palpebral fissures), small nostrils, and a beaked
nose. They may have a small head size (microcephaly), and in severe cases
affected individuals have a sac-like protrusion of the brain (encephalocele) at
the front of their head. In addition, people with Roberts syndrome may have
heart, kidney, and genital abnormalities.
html:p Infants with a severe form of Roberts syndrome are often stillborn or die
shortly after birth. Mildly affected individuals may live into adulthood. A
condition called SC phocomelia syndrome was originally thought to be distinct
from Roberts syndrome; however, it is now considered to be a mild variant. "SC"
represents the first letters of the surnames of the two families first
diagnosed with this disorder.
related-gene-list
Robinow syndrome https://ghr.nlm.nih.gov/condition/robinow-syndrome Both the autosomal recessive and autosomal dominant forms of Robinow html:p Robinow syndrome is a rare disorder that affects the development of many parts ad autosomal dominant DVL1 https://ghr.nlm.nih.gov/gene/DVL1 acral dysostosis with facial and genital abnormalities db key 2015-09 2017-12-29
Robinow氏症 syndrome are rare.Fewer than 200 people with autosomal recessive Robinow of the body, particularly the bones. Researchers have identified two major types code memo related-gene gene-symbol ghr-page fetal face syndrome GTR C0265205
syndrome have been described in the medical literature. This form of the of Robinow syndrome. The types are distinguished by the severity of their signs ar autosomal recessive ROR2 https://ghr.nlm.nih.gov/gene/ROR2 mesomelic dwarfism-small genitalia syndrome db key
condition has been identified in families from several countries, including and symptoms and by their pattern of inheritance, autosomal recessive or related-gene gene-symbol ghr-page Robinow dwarfism GTR C1849334
Turkey, Oman, Pakistan, and Brazil.Autosomal dominant Robinow syndrome has been autosomal dominant. WNT5A https://ghr.nlm.nih.gov/gene/WNT5A Robinow-Silverman-Smith syndrome db key
diagnosed in fewer than 50 families; about 10 of these families have had the html:p Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities Robinow-Silverman syndrome GTR C4225164
osteosclerotic form. including shortening of the long bones in the arms and legs, particularly the Robinow's syndrome db key
forearms; abnormally short fingers and toes (brachydactyly); wedge-shaped spinal GTR C4225363
bones (hemivertebrae) leading to an abnormal curvature of the spine db key
(kyphoscoliosis); fused or missing ribs; and short stature. Affected individuals GeneReviews rob
also have distinctive facial features, such as a broad forehead, prominent and db key
widely spaced eyes, a short nose with an upturned tip, a wide nasal bridge, and GeneReviews rob-ad
a broad and triangle-shaped mouth. Together, these facial features are sometimes db key
described as "fetal facies" because they resemble the facial structure of a MeSH D000015
developing fetus. Other common features of autosomal recessive Robinow syndrome db key
include underdeveloped genitalia in both males and females, and dental problems OMIM 180700
such as crowded teeth and overgrowth of the gums. Kidney and heart defects are db key
also possible. Delayed development occurs in 10 to 15 percent of people with OMIM 268310
this condition, although intelligence is usually normal. db key
html:p Autosomal dominant Robinow syndrome has signs and symptoms that are similar to, OMIM 616331
but tend to be milder than, those of the autosomal recessive form. Abnormalities db key
of the spine and ribs are rarely seen in the autosomal dominant form, and short OMIM 616894
stature is less pronounced. A variant form of autosomal dominant Robinow db key
syndrome features increased bone mineral density (osteosclerosis) in addition to Orphanet 1507
the signs and symptoms listed above. This variant is called the osteosclerotic db key
form of Robinow syndrome. Orphanet 3107
db key
Orphanet 97360
db key
related-gene-list SNOMED CT 76520005
Romano-Ward syndrome https://ghr.nlm.nih.gov/condition/romano-ward-syndrome Romano-Ward syndrome is the most common form of inherited long QT syndrome, html:p Romano-Ward syndrome is a condition that causes a disruption of the heart's ad autosomal dominant AKAP9 https://ghr.nlm.nih.gov/gene/AKAP9 RWS db key 2017-05 2017-12-29
羅馬諾沃德綜合症 which affects an estimated 1 in 2,000 people worldwide. Long QT syndrome may normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which related-gene gene-symbol ghr-page Ward-Romano Syndrome GTR C0035828
actually be more common than this estimate, however, because some people never is a heart condition that causes the heart (cardiac) muscle to take longer than CALM1 https://ghr.nlm.nih.gov/gene/CALM1 WRS db key
experience any symptoms associated with arrhythmia and therefore may not be usual to recharge between beats. The term "long QT" refers to a specific pattern related-gene gene-symbol ghr-page GTR C1859062
diagnosed. of heart activity that is detected with an electrocardiogram (ECG or EKG), CALM2 https://ghr.nlm.nih.gov/gene/CALM2 db key
which is a test used to measure the electrical activity of the heart. In people related-gene gene-symbol ghr-page GTR C3150943
with long QT syndrome, the part of the heartbeat known as the QT interval is CAV3 https://ghr.nlm.nih.gov/gene/CAV3 db key
abnormally long. Abnormalities in the time it takes to recharge the heart lead related-gene gene-symbol ghr-page GTR CN119492
to abnormal heart rhythms. KCNH2 https://ghr.nlm.nih.gov/gene/KCNH2 db key
html:p The arrhythmia associated with Romano-Ward syndrome can lead to fainting related-gene gene-symbol ghr-page GeneReviews rws
(syncope) or cardiac arrest and sudden death. However, some people with KCNJ5 https://ghr.nlm.nih.gov/gene/KCNJ5 db key
Romano-Ward syndrome never experience any health problems associated with the related-gene gene-symbol ghr-page ICD-10-CM I45.81
condition. KCNQ1 https://ghr.nlm.nih.gov/gene/KCNQ1 db key
html:p Fifteen types of long QT syndrome have been defined based on their genetic related-gene gene-symbol ghr-page MeSH D029597
cause. Some types of long QT syndrome involve other cardiac abnormalities or SCN4B https://ghr.nlm.nih.gov/gene/SCN4B db key
problems with additional body systems. Romano-Ward syndrome encompasses those related-gene gene-symbol ghr-page OMIM 192500
types that involve only a long QT interval without other abnormalities. SCN5A https://ghr.nlm.nih.gov/gene/SCN5A db key
related-gene gene-symbol ghr-page OMIM 603830
SNTA1 https://ghr.nlm.nih.gov/gene/SNTA1 db key
OMIM 613688
db key
Orphanet 768
db key
related-gene-list SNOMED CT 20852007
Rothmund-Thomson syndrome https://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome Rothmund-Thomson syndrome is a rare disorder; its incidence is unknown. html:p Rothmund-Thomson syndrome is a rare condition that affects many parts of the ar autosomal recessive RECQL4 https://ghr.nlm.nih.gov/gene/RECQL4 congenital poikiloderma db key 2013-08 2017-12-29
About 300 people with this condition have been reported worldwide in scientific body, especially the skin. People with this condition typically develop redness poikiloderma atrophicans and cataract GTR C0032339
studies. on the cheeks between ages 3 months and 6 months. Over time the rash spreads to poikiloderma congenitale db key
the arms and legs, causing patchy changes in skin coloring, areas of thinning poikiloderma congenitale of Rothmund-Thomson GeneReviews rts
skin (atrophy), and small clusters of blood vessels just under the skin RTS db key
(telangiectases). These skin problems persist for life and are collectively MeSH D011038
known as poikiloderma. db key
html:p Rothmund-Thomson syndrome is also characterized by sparse hair, eyebrows, and OMIM 268400
eyelashes; slow growth and small stature; abnormalities of the teeth and nails; db key
and gastrointestinal problems in infancy, such as chronic diarrhea and vomiting. Orphanet 2909
Some affected children develop a clouding of the lens of the eye (cataract), db key
which affects vision. Many people with this disorder have skeletal abnormalities SNOMED CT 69093006
including absent or malformed bones, fused bones, and low bone mineral density
(osteopenia or osteoporosis). Some of these abnormalities affect the development
of bones in the forearms and the thumbs, and are known as radial ray
malformations.
html:p People with Rothmund-Thomson syndrome have an increased risk of developing
cancer, particularly a form of bone cancer called osteosarcoma. These bone
tumors most often develop during childhood or adolescence. Several types of skin
cancer, including basal cell carcinoma and squamous cell carcinoma, are also
more common in people with this disorder.
html:p The varied signs and symptoms of Rothmund-Thomson syndrome overlap with features
of other disorders, namely Baller-Gerold syndrome and RAPADILINO syndrome.
These syndromes are also characterized by radial ray defects, skeletal
abnormalities, and slow growth. All of these conditions can be caused by
mutations in the same gene. Based on these similarities, researchers are
investigating whether Rothmund-Thomson syndrome, Baller-Gerold syndrome, and
RAPADILINO syndrome are separate disorders or part of a single syndrome with
overlapping signs and symptoms.
related-gene-list
Rotor syndrome https://ghr.nlm.nih.gov/condition/rotor-syndrome Rotor syndrome is a rare condition, although its prevalence is unknown. html:p Rotor syndrome is a relatively mild condition characterized by elevated levels ar autosomal recessive SLCO1B1 https://ghr.nlm.nih.gov/gene/SLCO1B1 hyperbilirubinemia, Rotor type db key 2013-03 2017-12-29
轉子綜合症 of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is related-gene gene-symbol ghr-page GTR C0220991
produced when red blood cells are broken down. It has an orange-yellow tint, and SLCO1B3 https://ghr.nlm.nih.gov/gene/SLCO1B3 db key
buildup of this substance can cause yellowing of the skin or whites of the eyes GeneReviews rotor
(jaundice). In people with Rotor syndrome, jaundice is usually evident shortly db key
after birth or in childhood and may come and go; yellowing of the whites of the MeSH D006933
eyes (also called conjunctival icterus) is often the only symptom. db key
html:p There are two forms of bilirubin in the body: a toxic form called unconjugated OMIM 237450
bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor db key
syndrome have a buildup of both unconjugated and conjugated bilirubin in their Orphanet 3111
blood, but the majority is conjugated. db key
RP1-Related Retinitis Pigmentosa
體染色體顯性色素性視網膜炎
inheritance-pattern-list related-gene-list SNOMED CT 32891000
RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with https://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-synd RRM2B-MDS is a rare condition; the exact prevalence is unknown. At least 15 html:p html:i ar autosomal recessive ghr-page mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal db-key db key 2016-11 2017-12-29
renal tubulopathy rome-encephalomyopathic-form-with-renal-tubulopathy cases have been reported in the medical literature. RRM2B -MDS) is a severe condition that begins in infancy and affects multiple body https://ghr.nlm.nih.gov/gene/RRM2B tubulopathy) GTR CN187502
systems. It is associated with brain dysfunction combined with muscle weakness MTDPS8A db-key db key
(encephalomyopathy). Many affected individuals also have a kidney dysfunction RRM2B-MDS GeneReviews rrm2b-mtddepl
known as renal tubulopathy. db-key db key
html:p html:i MeSH D017237
Weakness of the muscles used for breathing leads to serious breathing difficulties db-key db key
and can result in life-threatening respiratory failure. Most affected infants have a buildup OMIM 612075
of a chemical called lactic acid in the body (lactic acidosis), which can also be life-threatening. db-key db key
Orphanet 255235
db-key db key
Orphanet 35698
html:p html:i
RRM2B
-MDS develop seizures or hearing loss that is caused by nerve damage in the
inner ear (sensorineural hearing loss).
html:p Because of the severity of the signs and symptoms, people with RRM2B-MDS usually
live only into early childhood
related-gene-list
Rubinstein-Taybi syndrome, RSTS https://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome This condition is uncommon; it occurs in an estimated 1 in 100,000 to html:p Rubinstein-Taybi syndrome is a condition characterized by short stature, ad autosomal dominant CREBBP https://ghr.nlm.nih.gov/gene/CREBBP Broad Thumb-Hallux Syndrome db key 2007-01 2017-12-29
Rubinstein-Taybi氏症候群 125,000 newborns. moderate to severe intellectual disability, distinctive facial features, and related-gene gene-symbol ghr-page RSTS GTR C0035934
魯賓斯坦-泰必氏綜合症 broad thumbs and first toes. Additional features of the disorder can include EP300 https://ghr.nlm.nih.gov/gene/EP300 RTS db key
eye abnormalities, heart and kidney defects, dental problems, and obesity. related-chromosome name ghr-page GTR C3150941
These signs and symptoms vary among affected individuals. People with this 16 https://ghr.nlm.nih.gov/chromosome/16 db key
condition have an increased risk of developing noncancerous and cancerous GeneReviews rsts
tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue db key
(leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome. MeSH D012415
html:p Rarely, Rubinstein-Taybi syndrome can involve serious complications such as a db key
failure to gain weight and grow at the expected rate (failure to thrive) and OMIM 180849
life-threatening infections. Infants born with this severe form of the disorder db key
usually survive only into early childhood. OMIM 613684
db key
Orphanet 783
db key
related-gene-list SNOMED CT 45582004
Russell-Silver syndrome https://ghr.nlm.nih.gov/condition/russell-silver-syndrome The exact incidence of Russell-Silver syndrome is unknown. Worldwide html:p Russell-Silver syndrome is a growth disorder characterized by slow growth before ad autosomal dominant H19 https://ghr.nlm.nih.gov/gene/H19 RSS db key 2016-09 2017-12-29
羅素-西弗氏症 estimates range from 1 in 30,000 to 1 in 100,000 people. and after birth. Babies with this condition have a low birth weight and often code memo related-gene gene-symbol ghr-page Silver-Russell dwarfism GTR C0175693
Silver-Russell syndrome fail to grow and gain weight at the expected rate (failure to thrive). Head ar autosomal recessive IGF2 https://ghr.nlm.nih.gov/gene/IGF2 Silver-Russell syndrome db key
Silver-Russell 症候群 growth is normal, however, so the head may appear unusually large compared to code memo related-chromosome name ghr-page SRS GeneReviews rss
the rest of the body. Affected children are thin and have poor appetites, and xd X-linked dominant 7 https://ghr.nlm.nih.gov/chromosome/7 db key
some develop recurrent episodes of low blood sugar (hypoglycemia) as a result of related-chromosome name ghr-page MeSH D056730
feeding difficulties. Adults with Russell-Silver syndrome are short; the 11 https://ghr.nlm.nih.gov/chromosome/11 db key
average height for affected men is about 151 centimeters (4 feet, 11 inches) and OMIM 180860
the average height for affected women is about 140 centimeters (4 feet, 7 db key
inches). Orphanet 813
html:p Many children with Russell-Silver syndrome have a small, triangular face with db key
distinctive facial features including a prominent forehead, a narrow chin, a SNOMED CT 15069006
small jaw, and downturned corners of the mouth. Other features of this disorder
can include an unusual curving of the fifth finger (clinodactyly), asymmetric or
uneven growth of some parts of the body, and digestive system abnormalities.
Russell-Silver syndrome is also associated with an increased risk of delayed
development, speech and language problems, and learning disabilities.
related-gene-list
SADDAN https://ghr.nlm.nih.gov/condition/saddan This disorder is very rare; it has been described in only a small number of html:p SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) ad autosomal dominant FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 achondroplasia, severe, with developmental delay and acanthosis nigricans db key 2012-10 2017-12-29
individuals worldwide. is a rare disorder of bone growth characterized by skeletal, brain, and skin SADDAN dysplasia GTR C2674173
abnormalities. Severe achondroplasia with developmental delay and acanthosis nigricans db key
html:p All people with this condition have extremely short stature with particularly Skeleton-skin-brain syndrome GeneReviews achondroplasia
short arms and legs. Other features include unusual bowing of the leg bones; a SSB syndrome db key
small chest with short ribs and curved collar bones; short, broad fingers; and MeSH D000130
folds of extra skin on the arms and legs. Structural abnormalities of the brain db key
cause seizures, profound developmental delay, and intellectual disability. SNOMED CT 699870002
Several affected individuals also have had episodes in which their breathing
slows or stops for short periods (apnea). Acanthosis nigricans, a progressive
skin disorder characterized by thick, dark, velvety skin, is another
characteristic feature of SADDAN that develops in infancy or early childhood.
related-gene-list
Saethre-Chotzen syndrome https://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome Saethre-Chotzen syndrome has an estimated prevalence of 1 in 25,000 to html:p Saethre-Chotzen syndrome is a genetic condition characterized by the premature ad autosomal dominant TWIST1 https://ghr.nlm.nih.gov/gene/TWIST1 acrocephalosyndactyly III db key 2008-02 2017-12-29
Saethre-Chotzen綜合症 50,000 people. fusion of certain skull bones (craniosynostosis). This early fusion prevents the related-chromosome name ghr-page Acrocephalosyndactyly, type III GTR C0175699
skull from growing normally and affects the shape of the head and face. 7 https://ghr.nlm.nih.gov/chromosome/7 Acrocephaly, Skull Asymmetry, and Mild Syndactyly db key
html:p Most people with Saethre-Chotzen syndrome have prematurely fused skull bones ACS III GTR C1867146
along the coronal suture, the growth line that goes over the head from ear to ACS3 db key
ear. Other parts of the skull may be malformed as well. These changes can Chotzen syndrome GeneReviews scs
result in an abnormally shaped head, a high forehead, a low frontal hairline, dysostosis craniofacialis with hypertelorism db key
droopy eyelids (ptosis), widely spaced eyes, and a broad nasal bridge. One side SCS MeSH D000168
of the face may appear noticeably different from the other (facial asymmetry). db key
Most people with Saethre-Chotzen syndrome also have small, unusually shaped OMIM 101400
ears. db key
html:p The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among OMIM 180750
affected individuals in the same family. This condition can cause mild db key
abnormalities of the hands and feet, such as fusion of the skin between the Orphanet 794
second and third fingers on each hand and a broad or duplicated first (big) toe. db key
Delayed development and learning difficulties have been reported, although most SNOMED CT 83015004
people with this condition are of normal intelligence. Less common signs and
symptoms of Saethre-Chotzen syndrome include short stature, abnormalities of the
bones of the spine (the vertebra), hearing loss, and heart defects.
html:p Robinow-Sorauf syndrome is a condition with features similar to those of
Saethre-Chotzen syndrome, including craniosynostosis and broad or duplicated
great toes. It was once considered a separate disorder, but was found to result
from mutations in the same gene and is now thought to be a mild variant of
Saethre-Chotzen syndrome.
related-gene-list
Sandhoff disease https://ghr.nlm.nih.gov/condition/sandhoff-disease Sandhoff disease is a rare disorder; its frequency varies among html:p Sandhoff disease is a rare inherited disorder that progressively destroys nerve ar autosomal recessive HEXB https://ghr.nlm.nih.gov/gene/HEXB Beta-hexosaminidase-beta-subunit deficiency db key 2008-09 2017-12-29
山多夫氏病 populations. This condition appears to be more common in the Creole population cells (neurons) in the brain and spinal cord. GM2 gangliosidosis, type 2 GTR C0036161
of northern Argentina; the Metis Indians in Saskatchewan, Canada; and people html:p The most common and severe form of Sandhoff disease becomes apparent in infancy. GM2 Gangliosidosis, Type II db key
from Lebanon. Infants with this disorder typically appear normal until the age of 3 to 6 Hexosaminidase A and B Deficiency Disease ICD-10-CM E75.01
months, when their development slows and muscles used for movement weaken. Sandhoff-Jatzkewitz-Pilz disease db key
Affected infants lose motor skills such as turning over, sitting, and crawling. Total hexosaminidase deficiency MeSH D012497
They also develop an exaggerated startle reaction to loud noises. As the disease db key
progresses, children with Sandhoff disease experience seizures, vision and OMIM 268800
hearing loss, intellectual disability, and paralysis. An eye abnormality called db key
a cherry-red spot, which can be identified with an eye examination, is Orphanet 796
characteristic of this disorder. Some affected children also have enlarged db key
organs (organomegaly) or bone abnormalities. Children with the severe infantile SNOMED CT 23849003
form of Sandhoff disease usually live only into early childhood.
html:p Other forms of Sandhoff disease are very rare. Signs and symptoms can begin in
childhood, adolescence, or adulthood and are usually milder than those seen with
the infantile form. Characteristic features include muscle weakness, loss of
muscle coordination (ataxia) and other problems with movement, speech problems,
and mental illness. These signs and symptoms vary widely among people with
late-onset forms of Sandhoff disease.
inheritance-pattern-list related-gene-list
SATB2-associated syndrome https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome SATB2-associated syndrome is a rare condition. Its prevalence is unknown. html:p onset before age 2. n not inherited ghr-page 2q32 deletion syndrome db-key db key 2017-02 2017-12-29
SATB2相關綜合徵 SATB2 related-chromosome https://ghr.nlm.nih.gov/gene/SATB2 2q33.1 microdeletion syndrome GTR C2676739
Glass Syndrome ghr-page chromosome 2q32-q33 deletion syndrome db-key db key
Glass氏症候群 https://ghr.nlm.nih.gov/chromosome/2 Glass syndrome GeneReviews satb2-dis
SAS db-key db key
MeSH D008607
db-key db key
OMIM 612313
html:p html:i
SATB2
Less common neurological problems include feeding difficulties and weak muscle tone
(hypotonia) in infancy
-associated syndrome. Less common neurological problems include feeding
difficulties and weak muscle tone (hypotonia) in infancy. About half of affected
individuals have abnormalities in the structure of the brain.
html:p html:i
SATB2
-associated syndrome have other unusual facial features, such as a prominent
forehead, low-set ears, or a large area between the nose and mouth (a long
philtrum).
html:p Less-commonly affected are the heart, genitals and urinary tract (genitourinary
tract), skin, and hair.
related-gene-list
Scalp-ear-nipple syndrome https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome The prevalence of scalp-ear-nipple syndrome is unknown. Only a small number html:p Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by ad autosomal dominant KCTD1 https://ghr.nlm.nih.gov/gene/KCTD1 Finlay-Marks syndrome db key 2017-04 2017-12-29
頭皮耳乳頭綜合徵 of affected individuals have been described in the medical literature. abnormalities of the scalp, ears, and nipples. Less frequently, affected hereditary syndrome of lumpy scalp, odd ears, and rudimentary nipples GTR C1867020
individuals have problems affecting other parts of the body. The features of SEN syndrome db key
this disorder can vary even within the same family. SENS MeSH D004476
html:p Babies with scalp-ear-nipple syndrome are born with a condition called aplasia db key
cutis congenita, which involves patchy abnormal areas (lesions) on the scalp. OMIM 181270
These lesions are firm, raised, hairless nodules that resemble open wounds or db key
ulcers at birth, but that heal during childhood. Orphanet 2036
html:p The external ears of people with scalp-ear-nipple syndrome may be small, db key
cup-shaped, folded over, or otherwise mildly misshapen. Hearing is generally SNOMED CT 721888002
normal. Affected individuals also have nipples that are underdeveloped
(hypothelia) or absent (athelia). In some cases the underlying breast tissue is
absent as well (amastia).
html:p Other features that can occur in this disorder include malformed and brittle
fingernails and toenails (nail dystrophy), dental abnormalities including
widely-spaced or missing teeth, fusion of the skin between some of the fingers
and toes (cutaneous syndactyly), and kidney defects such as underdevelopment
(hypoplasia) of one or both kidneys. Unusual facial features, including narrowed
openings of the eyes (narrowed palpebral fissures), an increased distance
between the inner corners of the eyes (telecanthus), a flat bridge of the nose,
and nostrils that open to the front rather than downward (anteverted nares), can
also occur in this disorder.
related-gene-list
Schimke immuno-osseous dysplasia https://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia Schimke immuno-osseous dysplasia is a very rare condition. The prevalence html:p Schimke immuno-osseous dysplasia is a condition characterized by short stature, ar autosomal recessive SMARCAL1 https://ghr.nlm.nih.gov/gene/SMARCAL1 immunoosseous dysplasia, Schimke type db key 2008-11 2017-12-29
Schimke免疫性骨發育不良 in North America is estimated to be one in 1 million to 3 million people. kidney disease, and a weakened immune system. In people with this condition, Schimke immunoosseous dysplasia GTR C0877024
short stature is caused by flattened spinal bones (vertebrae), resulting in a SIOD db key
shortened neck and trunk. Adult height is typically between 3 and 5 feet. GeneReviews siod
Kidney (renal) disease often leads to life-threatening renal failure and db key
end-stage renal disease (ESRD). Affected individuals also have a shortage of MeSH D007153
certain immune system cells called T cells. T cells identify foreign substances db key
and defend the body against infection. A shortage of T cells causes a person MeSH D010009
to be more susceptible to illness. db key
html:p Other features frequently seen in people with this condition include an OMIM 242900
exaggerated curvature of the lower back (lordosis); darkened patches of skin db key
(hyperpigmentation), typically on the chest and back; and a broad nasal bridge Orphanet 1830
with a rounded tip of the nose. db key
html:p Less common signs and symptoms of Schimke immuno-osseous dysplasia include an SNOMED CT 254067002
accumulation of fatty deposits and scar-like tissue in the lining of the
arteries (atherosclerosis), reduced blood flow to the brain (cerebral ischemia),
migraine-like headaches, an underactive thyroid gland (hypothyroidism),
decreased numbers of white blood cells (lymphopenia), underdeveloped hip bones
(hypoplastic pelvis), abnormally small head size (microcephaly), a lack of sperm
(azoospermia) in males, and irregular menstruation in females.
html:p In severe cases, many signs of Schimke immuno-osseous dysplasia can be present
at birth. People with mild cases of this disorder may not develop signs or
symptoms until late childhood.
related-gene-list
Schindler disease https://ghr.nlm.nih.gov/condition/schindler-disease Schindler disease is very rare. Only a few individuals with each type of html:p Schindler disease is an inherited disorder that primarily causes neurological ar autosomal recessive NAGA https://ghr.nlm.nih.gov/gene/NAGA alpha-galactosidase B deficiency db key 2010-02 2017-12-29
(Neurology) the disorder have been identified. problems. alpha-galNAc deficiency, Schindler type GTR C1836522
html:p There are three types of Schindler disease. Schindler disease type I, also alpha-N-acetylgalactosaminidase deficiency db key
called the infantile type, is the most severe form. Babies with Schindler alpha-NAGA deficiency GTR C1836544
disease type I appear healthy at birth, but by the age of 8 to 15 months they angiokeratoma corporis diffusum-glycopeptiduria db key
stop developing new skills and begin losing skills they had already acquired GALB deficiency MeSH D016464
(developmental regression). As the disorder progresses, affected individuals Kanzaki disease db key
develop blindness and seizures, and eventually they lose awareness of their lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum OMIM 609241
surroundings and become unresponsive. People with this form of the disorder NAGA deficiency db key
usually do not survive past early childhood. neuroaxonal dystrophy, Schindler type OMIM 609242
html:p Schindler disease type II, also called Kanzaki disease, is a milder form of the neuronal axonal dystrophy, Schindler type db key
disorder that usually appears in adulthood. Affected individuals may develop Orphanet 3137
mild cognitive impairment and hearing loss caused by abnormalities of the inner db key
ear (sensorineural hearing loss). They may experience weakness and loss of SNOMED CT 238048001
sensation due to problems with the nerves connecting the brain and spinal cord
to muscles and sensory cells (peripheral nervous system). Clusters of enlarged
blood vessels that form small, dark red spots on the skin (angiokeratomas) are
characteristic of this form of the disorder.
html:p Schindler disease type III is intermediate in severity between types I and II.
Affected individuals may exhibit signs and symptoms beginning in infancy,
including developmental delay, seizures, a weakened and enlarged heart
(cardiomyopathy), and an enlarged liver (hepatomegaly). In other cases, people
with this form of the disorder exhibit behavioral problems beginning in early
childhood, with some features of autism spectrum disorders. Autism spectrum
disorders are characterized by impaired communication and socialization skills.
related-gene-list
Schinzel-Giedion syndrome https://ghr.nlm.nih.gov/condition/schinzel-giedion-syndrome Schinzel-Giedion syndrome is very rare, although the exact prevalence is html:p Schinzel-Giedion syndrome is a severe condition that is apparent at birth and n not inherited SETBP1 https://ghr.nlm.nih.gov/gene/SETBP1 Schinzel-Giedion midface retraction syndrome db key 2012-01 2017-12-29
Schinzel-Giedion綜合徵 unknown. affects many body systems. Signs and symptoms of this condition include Schinzel Giedion syndrome GTR C1849294
distinctive facial features, neurological problems, and organ and bone db key
abnormalities. Because of their serious health problems, most affected MeSH D000015
individuals do not survive past childhood. db key
html:p Children with Schinzel-Giedion syndrome can have a variety of distinctive OMIM 269150
features. In most affected individuals, the middle of the face looks as though db key
it has been drawn inward (midface retraction). Other facial features include a Orphanet 798
large or bulging forehead; wide-set eyes (ocular hypertelorism); a short, db key
upturned nose; and a wide mouth with a large tongue (macroglossia). Affected SNOMED CT 18899000
individuals can have other distinctive features, including larger than normal
gaps between the bones of the skull in infants (fontanelles), a short neck, ear
malformations, an inability to secrete tears (alacrima), and excessive hairiness
(hypertrichosis). Hypertrichosis often disappears in infancy.
html:p Children with Schinzel-Giedion syndrome have severe developmental delay. Other
neurological problems can include severe feeding problems, seizures, or visual
or hearing impairment.
html:p Affected individuals can also have abnormalities of organs such as the heart,
kidneys, or genitals. Heart defects include problems with the heart valves,
which control blood flow in the heart; the chambers of the heart that pump blood
to the body (ventricles); or the dividing wall between the sides of the heart
(the septum). Most children with Schinzel-Giedion syndrome have accumulation of
urine in the kidneys (hydronephrosis), which can occur in one or both kidneys.
Affected individuals can have genital abnormalities such as underdevelopment
(hypoplasia) of the genitals. Affected boys may have the opening of the urethra
on the underside of the penis (hypospadias).
html:p Bone abnormalities are common in people with Schinzel-Giedion syndrome. The
bones at the base of the skull are often abnormally hard or thick (sclerotic),
or the joint between the bones at the base of the skull (occipital
synchondrosis) can be abnormally wide. In addition, affected individuals may
have broad ribs, abnormal collarbones (clavicles), or shortened bones at the
ends of the fingers (hypoplastic distal phalanges).
html:p Children with this condition who survive past infancy have a higher than normal
risk of developing certain types of tumors called neuroepithelial tumors.
related-gene-list
Schizophrenia https://ghr.nlm.nih.gov/condition/schizophrenia Schizophrenia is a common disorder that occurs all over the world. It html:p Schizophrenia is a mental health disorder classified as a psychosis, which means u pattern unknown ABCA13 https://ghr.nlm.nih.gov/gene/ABCA13 dementia praecox db key 2016-07 2017-12-29
精神分裂症 affects almost 1 percent of the population, with slightly more males than that it affects a person's thinking, sense of self, and perceptions. The related-gene gene-symbol ghr-page GTR C0036341
思覺失調症 females developing the disorder. disorder typically appears during late adolescence or early adulthood. C4A https://ghr.nlm.nih.gov/gene/C4A db key
html:p Signs and symptoms of schizophrenia include false perceptions called related-gene gene-symbol ghr-page ICD-10-CM F20
hallucinations. Imaginary voices are the most common hallucinations in DGCR2 https://ghr.nlm.nih.gov/gene/DGCR2 db key
schizophrenia, but affected individuals can also experience imaginary visions, related-gene gene-symbol ghr-page MeSH D012559
smells, or feelings of being touched. Strongly held false beliefs (delusions) DGCR8 https://ghr.nlm.nih.gov/gene/DGCR8 db key
are also characteristic of schizophrenia. For example, affected individuals may related-gene gene-symbol ghr-page OMIM 181500
be certain that they are a particular historical figure or that they are being DRD2 https://ghr.nlm.nih.gov/gene/DRD2 db key
plotted against or controlled by others. related-gene gene-symbol ghr-page Orphanet 3140
html:p People with schizophrenia often have decreased ability to function at school, at MIR137 https://ghr.nlm.nih.gov/gene/MIR137 db key
work, and in social settings. Disordered thinking and concentration, related-gene gene-symbol ghr-page SNOMED CT 58214004
inappropriate emotional responses, erratic speech and behavior, and difficulty NOS1AP https://ghr.nlm.nih.gov/gene/NOS1AP
with personal hygiene and everyday tasks are also features of the disorder. related-gene gene-symbol ghr-page
People with schizophrenia may have diminished facial expression and animation NRXN1 https://ghr.nlm.nih.gov/gene/NRXN1
(flat affect), and in some cases become unresponsive (catatonic). Substance related-gene gene-symbol ghr-page
abuse and suicidal thoughts and actions are common in people with schizophrenia. OLIG2 https://ghr.nlm.nih.gov/gene/OLIG2
html:p Certain movement problems such as tremors, facial tics, rigidity, and unusually related-gene gene-symbol ghr-page
slow movement (bradykinesia) or an inability to move (akinesia) are common in RTN4R https://ghr.nlm.nih.gov/gene/RTN4R
people with schizophrenia. In most cases these are side effects of medicines related-gene gene-symbol ghr-page
given to help control the disorder. However, some affected individuals exhibit SYN2 https://ghr.nlm.nih.gov/gene/SYN2
movement abnormalities before beginning drug treatment. related-gene gene-symbol ghr-page
html:p Some people with schizophrenia have mild impairment of intellectual function, TOP3B https://ghr.nlm.nih.gov/gene/TOP3B
but schizophrenia is not associated with the same types of brain changes that related-gene gene-symbol ghr-page
occur in people with dementias such as Alzheimer disease. YWHAE https://ghr.nlm.nih.gov/gene/YWHAE
html:p Psychotic disorders such as schizophrenia are different from mood disorders, related-gene gene-symbol ghr-page
including depression and bipolar disorder, which primarily affect emotions. ZDHHC8 https://ghr.nlm.nih.gov/gene/ZDHHC8
However, these disorders can occur together. Individuals who exhibit strong related-chromosome name ghr-page
features of both schizophrenia and mood disorders are often given the hybrid 22 https://ghr.nlm.nih.gov/chromosome/22
diagnosis of schizoaffective disorder.
related-gene-list
Schwannomatosis https://ghr.nlm.nih.gov/condition/schwannomatosis The incidence of schwannomatosis is unknown, although estimates in several html:p Schwannomatosis is a disorder characterized by multiple noncancerous (benign) ad autosomal dominant LZTR1 https://ghr.nlm.nih.gov/gene/LZTR1 multiple neurilemmomas db key 2017-01 2017-12-29
populations have ranged from 1 in 40,000 to 1 in 1.7 million people. Some tumors called schwannomas, which are a type of tumor that grows on nerves. code memo related-gene gene-symbol ghr-page multiple schwannomas GTR C1335929
researchers have suggested that schwannomatosis may be as common as Schwannomas develop when Schwann cells, which are specialized cells that u pattern unknown NF2 https://ghr.nlm.nih.gov/gene/NF2 neurilemmomatosis db key
neurofibromatosis type 2, which has an incidence of 1 in 33,000 people normally form an insulating layer around the nerve, grow uncontrollably to form related-gene gene-symbol ghr-page neurilemmomatosis, congenital cutaneous GTR C3810283
worldwide.Schwannomatosis accounts for only a small percentage of all schwannoma a tumor. SMARCB1 https://ghr.nlm.nih.gov/gene/SMARCB1 neurinomatosis db key
tumors. Most schwannomas are isolated, meaning that an individual develops only html:p The signs and symptoms of schwannomatosis usually appear in early adulthood. The neurofibromatosis type 3 ICD-10-CM Q85.03
a single tumor. It is rarer to have multiple schwannomas, as occurs in most common symptom is long-lasting (chronic) pain, which can affect any part db key
schwannomatosis. of the body. In some cases, the pain is felt in areas where there are no known MeSH D009442
tumors. The pain associated with this condition ranges from mild to severe and db key
can be difficult to manage. Other signs and symptoms that can occur with MeSH D012878
schwannomatosis depend on the location of the tumors and which nerves are db key
affected. These problems include numbness, weakness, tingling, and headaches. MeSH D017253
The life expectancy of people with schwannomatosis is normal. db key
html:p Schwannomatosis is usually considered to be a form of neurofibromatosis, which OMIM 162091
is a group of disorders characterized by the growth of tumors in the nervous db key
system. The other two recognized forms of neurofibromatosis are OMIM 615670
neurofibromatosis type 1 and neurofibromatosis type 2. The features of db key
schwannomatosis can be very similar to those of neurofibromatosis type 2. Orphanet 93921
However, schwannomatosis almost never includes inner ear tumors called db key
vestibular schwannomas, which are a hallmark of neurofibromatosis type 2. SNOMED CT 1.4E+14
Additional features of the other forms of neurofibromatosis, including the db key
development of other types of tumors, are much less common in schwannomatosis. SNOMED CT 254240003
related-gene-list
Schwartz-Jampel syndrome https://ghr.nlm.nih.gov/condition/schwartz-jampel-syndrome Schwartz-Jampel syndrome appears to be a rare condition. About 150 cases html:p Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle ar autosomal recessive HSPG2 https://ghr.nlm.nih.gov/gene/HSPG2 chondrodystrophic myotonia db key 2016-04 2017-12-29
Schwartz-Jampel 症候群 have been reported in the medical literature. stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial GTR C0036391
and symptoms of this condition become apparent sometime after birth, usually in abnormalities db key
early childhood. Either muscle stiffness or chondrodysplasia can appear first. Schwartz-Jampel-Aberfeld syndrome ICD-10-CM G71.13
The muscle and bone abnormalities worsen in childhood, although most affected Schwartz-Jampel syndrome, type 1 db key
individuals have a normal lifespan. The specific features of Schwartz-Jampel SJA syndrome MeSH D010009
syndrome vary widely. SJS db key
html:p Myotonia involves continuous tensing (contraction) of muscles used for movement SJS1 OMIM 255800
(skeletal muscles) throughout the body. This sustained muscle contraction causes db key
stiffness that interferes with eating, sitting, walking, and other movements. Orphanet 800
Sustained contraction of muscles in the face leads to a fixed, "mask-like" db key
facial expression with narrow eye openings (blepharophimosis) and pursed lips. SNOMED CT 29145002
This facial appearance is very specific to Schwartz-Jampel syndrome. Affected
individuals may also be nearsighted and experience abnormal blinking or spasms
of the eyelids (blepharospasm).
html:p Chondrodysplasia affects the development of the skeleton, particularly the long
bones in the arms and legs and the bones of the hips. These bones are shortened
and unusually wide at the ends, so affected individuals have short stature. The
long bones may also be abnormally curved (bowed). Other bone abnormalities
associated with Schwartz-Jampel syndrome include a protruding chest (pectus
carinatum), abnormal curvature of the spine, flattened bones of the spine
(platyspondyly), and joint abnormalities called contractures that further
restrict movement.
html:p Researchers originally described two types of Schwartz-Jampel syndrome. Type 1
has the signs and symptoms described above, while type 2 has more severe bone
abnormalities and other health problems and is usually life-threatening in early
infancy. Researchers have since discovered that the condition they thought was
Schwartz-Jampel syndrome type 2 is actually part of another disorder,
Stüve-Wiedemann syndrome, which is caused by mutations in a different gene. They
have recommended that the designation Schwartz-Jampel syndrome type 2 no longer
be used.
inheritance-pattern-list related-gene-list
SCN8A-related epilepsy with encephalopathy https://ghr.nlm.nih.gov/condition/scn8a-related-epilepsy-with-encephalopathy There are at least 140 individuals with SCN8A-related epilepsy with html:p SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures autosomal dominant ghr-page early infantile epileptic encephalopathy 13 db-key db key 2017-08 2017-12-29
encephalopathy. This condition is estimated to account for 1 percent of all (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. https://ghr.nlm.nih.gov/gene/SCN8A EIEE13 GTR C3281191
cases of epilepsy with encephalopathy. The signs and symptoms of this condition typically begin in infancy. SCN8A encephalopathy db-key db key
html:p html:i GeneReviews scn8a-ee
SCN8A db-key db key
MeSH D001925
db-key db key
-related epilepsy with encephalopathy have more than one type of seizure. The MeSH D004831
frequency of seizures in different individuals with this condition ranges from db-key db key
hundreds per day to fewer than one per month. In many individuals, the seizures OMIM 614558
are described as refractory because they do not respond to therapy with db-key db key
anti-epileptic medications. Orphanet 1934
html:p html:i db-key db key
SCN8A SNOMED CT 4.3E+14
In rare cases, individuals with this condition die unexpectedly for no known reason
(sudden unexpected death in epilepsy or SUDEP).
html:p In rare cases, individuals with this condition die unexpectedly for no known
reason (sudden unexpected death in epilepsy or SUDEP).
related-gene-list
Seasonal affective disorder https://ghr.nlm.nih.gov/condition/seasonal-affective-disorder Seasonal affective disorder occurs in 0.5 to 3 percent of individuals in html:p Seasonal affective disorder is a mental health condition that is triggered by u pattern unknown ARNTL https://ghr.nlm.nih.gov/gene/ARNTL affective disorder, seasonal db key 2017-12 2017-12-29
季节性情绪失调 the general population; it affects 10 to 20 percent of people with major the changing of the seasons. This condition is a subtype of major depressive related-gene gene-symbol ghr-page depression in a seasonal pattern MeSH D016574
depressive disorder and about 25 percent of people with bipolar disorder.Some disorder and bipolar disorder. Major depressive disorder is characterized by CLOCK https://ghr.nlm.nih.gov/gene/CLOCK depression; seasonal db key
individuals have a condition known as subsyndromal seasonal affective disorder prolonged sadness and a general lack of interest, while bipolar disorder is related-gene gene-symbol ghr-page major depressive disorder with a seasonal pattern OMIM 608516
or seasonality, which is more common than seasonal affective disorder. These characterized by similar depressive episodes alternating with periods of CRY2 https://ghr.nlm.nih.gov/gene/CRY2 SAD db key
individuals have only mild changes in mood that correspond with the changes in abnormally high energy and activity (hypomania or mania). People with seasonal related-gene gene-symbol ghr-page seasonal depression SNOMED CT 247803002
seasons. affective disorder have signs and symptoms of either major depressive disorder HTR2A https://ghr.nlm.nih.gov/gene/HTR2A seasonal mood disorder
or bipolar disorder only during certain months of the year. Major depressive related-gene gene-symbol ghr-page
disorder is more common than bipolar disorder among people with seasonal NPAS2 https://ghr.nlm.nih.gov/gene/NPAS2
affective disorder. This condition usually begins in a person's twenties or related-gene gene-symbol ghr-page
thirties. OPN4 https://ghr.nlm.nih.gov/gene/OPN4
html:p The signs and symptoms that occur during depressive episodes in people with related-gene gene-symbol ghr-page
seasonal affective disorder are similar to those of major depressive disorder, PER2 https://ghr.nlm.nih.gov/gene/PER2
including a loss of interest or enjoyment in activities, a decrease in energy, a
depressed mood, and low self-esteem. In most people with seasonal affective
disorder, depression and other features appear in the fall and winter months and
subside in the spring and summer months. In these individuals, additional
symptoms often include weight gain due to increased intake of carbohydrates and
an increase in sleep (hypersomnia). Affected individuals with underlying bipolar
disorder typically have alternating episodes of depression in the fall and
winter months and mania during the spring and summer months.
html:p In about 10 percent of people with seasonal affective disorder, the condition
has the opposite seasonal pattern, occurring in the spring and summer months and
stopping during the fall and winter months. These individuals usually have a
loss of appetite and sleep, unlike those with symptoms in the fall and winter.
html:p For those affected, it is estimated that symptoms of seasonal affective disorder
are present during 40 percent of the year. In some individuals, seasonal
affective disorder does not recur every year. Thirty to 50 percent of affected
individuals do not show symptoms of the disorder in consecutive winters. In
about 40 percent of individuals with seasonal affective disorder, depressive
episodes continue after winter and do not alleviate in the summer months,
leading to a change in diagnosis to either major depressive disorder or bipolar
disorder.
html:p Individuals with seasonal affective disorder tend to have another psychological
condition, such as attention deficit hyperactivity disorder (ADHD), an eating
disorder, anxiety disorder, or panic disorder.
Sengers Disease
related-gene-list
Senior-Løken syndrome https://ghr.nlm.nih.gov/condition/senior-loken-syndrome Senior-Løken syndrome is a rare disorder, with an estimated prevalence of html:p Senior-Løken syndrome is a rare disorder characterized by the combination of two ar autosomal recessive CEP290 https://ghr.nlm.nih.gov/gene/CEP290 Loken-Senior syndrome db key 2012-06 2017-12-29
高級環綜合徵 about 1 in 1 million people worldwide. Only a few families with the condition specific features: a kidney condition called nephronophthisis and an eye related-gene gene-symbol ghr-page renal dysplasia and retinal aplasia GTR C0403553
have been described in the medical literature. condition known as Leber congenital amaurosis. IQCB1 https://ghr.nlm.nih.gov/gene/IQCB1 renal-retinal syndrome db key
html:p Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning related-gene gene-symbol ghr-page Senior-Loken syndrome GTR C1836517
in childhood. These cysts impair kidney function, initially causing increased NPHP1 https://ghr.nlm.nih.gov/gene/NPHP1 db key
urine production (polyuria), excessive thirst (polydipsia), general weakness, related-gene gene-symbol ghr-page GTR C1846979
and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal NPHP4 https://ghr.nlm.nih.gov/gene/NPHP4 db key
disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening related-gene gene-symbol ghr-page GTR C1846980
failure of kidney function that occurs when the kidneys are no longer able to SDCCAG8 https://ghr.nlm.nih.gov/gene/SDCCAG8 db key
filter fluids and waste products from the body effectively. related-gene gene-symbol ghr-page GTR C1857779
html:p Leber congenital amaurosis primarily affects the retina, which is the WDR19 https://ghr.nlm.nih.gov/gene/WDR19 db key
specialized tissue at the back of the eye that detects light and color. This GTR C3150877
condition causes vision problems, including an increased sensitivity to light db key
(photophobia), involuntary movements of the eyes (nystagmus), and extreme MeSH D052177
farsightedness (hyperopia). Some people with Senior-Løken syndrome develop the db key
signs of Leber congenital amaurosis within the first few years of life, while MeSH D057130
others do not develop vision problems until later in childhood. db key
OMIM 266900
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OMIM 606995
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OMIM 606996
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OMIM 609254
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OMIM 610189
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OMIM 613615
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Orphanet 3156
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related-gene-list SNOMED CT 236531005
Sensorineural deafness and male infertility https://ghr.nlm.nih.gov/condition/sensorineural-deafness-and-male-infertility The prevalence of sensorineural deafness and male infertility is unknown. html:p Sensorineural deafness and male infertility is a condition characterized by ar autosomal recessive CATSPER2 https://ghr.nlm.nih.gov/gene/CATSPER2 chromosome 15q15.3 deletion syndrome db key 2010-04 2017-12-29
hearing loss and an inability to father children. Affected individuals have related-gene gene-symbol ghr-page deafness-infertility syndrome GTR C1970187
moderate to severe sensorineural hearing loss, which is caused by abnormalities STRC https://ghr.nlm.nih.gov/gene/STRC DIS db key
in the inner ear. The hearing loss is typically diagnosed in early childhood and related-chromosome name ghr-page GeneReviews catsper-mi
does not worsen over time. Males with this condition produce sperm that have 15 https://ghr.nlm.nih.gov/chromosome/15 db key
decreased movement (motility), causing affected males to be infertile. MeSH D007248
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OMIM 611102
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Orphanet 94064
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related-gene-list SNOMED CT 700489002
Sepiapterin reductase deficiency https://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency Sepiapterin reductase deficiency appears to be a rare condition. At least html:p Sepiapterin reductase deficiency is a condition characterized by movement ar autosomal recessive SPR https://ghr.nlm.nih.gov/gene/SPR dopa-responsive dystonia due to sepiapterin reductase deficiency db key 2011-06 2017-12-29
30 cases have been described in the scientific literature. problems, most often a pattern of involuntary, sustained muscle contractions SPR deficiency GTR C0268468
known as dystonia. Other movement problems can include muscle stiffness db key
(spasticity), tremors, problems with coordination and balance (ataxia), and GeneReviews spr-def
involuntary jerking movements (chorea). People with sepiapterin reductase db key
deficiency can experience episodes called oculogyric crises. These episodes MeSH D004421
involve abnormal rotation of the eyeballs; extreme irritability and agitation; db key
and pain, muscle spasms, and uncontrolled movements, especially of the head and OMIM 612716
neck. Movement abnormalities are often worse late in the day. Most affected db key
individuals have delayed development of motor skills such as sitting and Orphanet 70594
crawling, and they typically are not able to walk unassisted. The problems with db key
movement tend to worsen over time. SNOMED CT 45116002
html:p People with sepiapterin reductase deficiency may have additional signs and
symptoms including an unusually small head size (microcephaly), intellectual
disability, seizures, excessive sleeping, and mood swings.
related-gene-list
Septo-optic dysplasia https://ghr.nlm.nih.gov/condition/septo-optic-dysplasia Septo-optic dysplasia has a reported incidence of 1 in 10,000 newborns. html:p Septo-optic dysplasia is a disorder of early brain development. Although its ad autosomal dominant HESX1 https://ghr.nlm.nih.gov/gene/HESX1 De Morsier syndrome db key 2010-03 2017-12-29
狄莫西亞氏症候群 signs and symptoms vary, this condition is traditionally defined by three code memo related-gene gene-symbol ghr-page septooptic dysplasia GTR C0338503
characteristic features: underdevelopment (hypoplasia) of the optic nerves, ar autosomal recessive OTX2 https://ghr.nlm.nih.gov/gene/OTX2 SOD db key
abnormal formation of structures along the midline of the brain, and pituitary related-gene gene-symbol ghr-page ICD-10-CM Q04.4
hypoplasia. PROKR2 https://ghr.nlm.nih.gov/gene/PROKR2 db key
html:p The first major feature, optic nerve hypoplasia, is the underdevelopment of the related-gene gene-symbol ghr-page MeSH D025962
optic nerves, which carry visual information from the eyes to the brain. In SOX2 https://ghr.nlm.nih.gov/gene/SOX2 db key
affected individuals, the optic nerves are abnormally small and make fewer OMIM 182230
connections than usual between the eyes and the brain. As a result, people with db key
optic nerve hypoplasia have impaired vision in one or both eyes. Optic nerve Orphanet 3157
hypoplasia can also be associated with unusual side-to-side eye movements db key
(nystagmus) and other eye abnormalities. SNOMED CT 7611002
html:p The second characteristic feature of septo-optic dysplasia is the abnormal
development of structures separating the right and left halves of the brain.
These structures include the corpus callosum, which is a band of tissue that
connects the two halves of the brain, and the septum pellucidum, which separates
the fluid-filled spaces called ventricles in the brain. In the early stages of
brain development, these structures may form abnormally or fail to develop at
all. Depending on which structures are affected, abnormal brain development can
lead to intellectual disability and other neurological problems.
html:p The third major feature of this disorder is pituitary hypoplasia. The pituitary
is a gland at the base of the brain that produces several hormones. These
hormones help control growth, reproduction, and other critical body functions.
Underdevelopment of the pituitary can lead to a shortage (deficiency) of many
essential hormones. Most commonly, pituitary hypoplasia causes growth hormone
deficiency, which results in slow growth and unusually short stature. Severe
cases cause panhypopituitarism, a condition in which the pituitary produces no
hormones. Panhypopituitarism is associated with slow growth, low blood sugar
(hypoglycemia), genital abnormalities, and problems with sexual development.
html:p The signs and symptoms of septo-optic dysplasia can vary significantly. Some
researchers suggest that septo-optic dysplasia should actually be considered a
group of related conditions rather than a single disorder. About one-third of
people diagnosed with septo-optic dysplasia have all three major features; most
affected individuals have two of the major features. In rare cases, septo-optic
dysplasia is associated with additional signs and symptoms, including recurrent
seizures (epilepsy), delayed development, and abnormal movements.
Severe combined immunodeficiency, SCID
嚴重複合型免疫缺乏症
related-gene-list
Severe congenital neutropenia https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia The incidence of severe congenital neutropenia is estimated to be 1 in html:p Severe congenital neutropenia is a condition that causes affected individuals to ad autosomal dominant CSF3R https://ghr.nlm.nih.gov/gene/CSF3R congenital agranulocytosis db key 2017-09 2017-12-29
重症先天性中性白细胞减少 200,000 individuals. be prone to recurrent infections. People with this condition have a shortage code memo related-gene gene-symbol ghr-page congenital neutropenia GTR C1845987
(deficiency) of neutrophils, a type of white blood cell that plays a role in ar autosomal recessive ELANE https://ghr.nlm.nih.gov/gene/ELANE infantile genetic agranulocytosis db key
inflammation and in fighting infection. The deficiency of neutrophils, called code memo related-gene gene-symbol ghr-page Kostmann disease GTR C1853118
neutropenia, is apparent at birth or soon afterward. It leads to recurrent xr X-linked recessive G6PC3 https://ghr.nlm.nih.gov/gene/G6PC3 Kostmann's agranulocytosis db key
infections beginning in infancy, including infections of the sinuses, lungs, and related-gene gene-symbol ghr-page Kostmann's syndrome GTR C1859966
liver. Affected individuals can also develop fevers and inflammation of the GFI1 https://ghr.nlm.nih.gov/gene/GFI1 severe infantile genetic neutropenia db key
gums (gingivitis) and skin. Approximately 40 percent of affected people have related-gene gene-symbol ghr-page GTR C2675526
decreased bone density (osteopenia) and may develop osteoporosis, a condition HAX1 https://ghr.nlm.nih.gov/gene/HAX1 db key
that makes bones progressively more brittle and prone to fracture. In people related-gene gene-symbol ghr-page GTR C2751288
with severe congenital neutropenia, these bone disorders can begin at any time JAGN1 https://ghr.nlm.nih.gov/gene/JAGN1 db key
from infancy through adulthood. related-gene gene-symbol ghr-page GTR C3809031
html:p Approximately 20 percent of people with severe congenital neutropenia develop TCIRG1 https://ghr.nlm.nih.gov/gene/TCIRG1 db key
certain cancerous conditions of the blood, particularly myelodysplastic syndrome related-gene gene-symbol ghr-page GTR C4014954
or leukemia during adolescence. VPS45 https://ghr.nlm.nih.gov/gene/VPS45 db key
html:p Some people with severe congenital neutropenia have additional health problems related-gene gene-symbol ghr-page GTR C4310764
such as seizures, developmental delay, or heart and genital abnormalities. WAS https://ghr.nlm.nih.gov/gene/WAS db key
GTR CN032247
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GeneReviews cyclic-n
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GeneReviews g6pc3-def
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GeneReviews was
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ICD-10-CM D70.0
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MeSH D009503
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OMIM 202700
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OMIM 300299
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OMIM 610738
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OMIM 612541
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OMIM 613107
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OMIM 615285
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OMIM 616022
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OMIM 617014
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Orphanet 42738
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SNOMED CT 718882006
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synonym-list db-key-list SNOMED CT 89655007
Sézary syndrome https://ghr.nlm.nih.gov/condition/sezary-syndrome Sézary syndrome is a rare condition, although its prevalence is unknown. It html:p Sézary syndrome is an aggressive form of a type of blood cancer called cutaneous u pattern unknown synonym Sezary syndrome key 2017-12-29
塞扎里綜合症 is the second most common form of cutaneous T-cell lymphoma after mycosis T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood synonym Sezary's lymphoma db-key C0036920
fungoides, accounting for approximately 3 to 5 percent of cases of cutaneous cells, called T cells, become cancerous; these cancers characteristically affect key
T-cell lymphoma. the skin, causing different types of skin lesions. In Sézary syndrome, the db-key C84.1
cancerous T cells, called Sézary cells, are present in the blood, skin, and key
lymph nodes. A characteristic of Sézary cells is an abnormally shaped nucleus, db-key C84.10
described as cerebriform. key
html:p People with Sézary syndrome develop a red, severely itchy rash (erythroderma) db-key C84.11
that covers large portions of their body. Sézary cells are found in the rash. key
However, the skin cells themselves are not cancerous; the skin problems result db-key C84.12
when Sézary cells move from the blood into the skin. People with Sézary syndrome key
also have enlarged lymph nodes (lymphadenopathy). Other common signs and db-key C84.13
symptoms of this condition include hair loss (alopecia), skin swelling (edema), key
thickened skin on the palms of the hands and soles of the feet (palmoplantar db-key C84.14
keratoderma), abnormalities of the fingernails and toenails, and lower eyelids key
that turn outward (ectropion). Some people with Sézary syndrome are less able to db-key C84.15
control their body temperature than people without the condition. key
html:p The cancerous T cells can spread to other organs in the body, including the db-key C84.16
lymph nodes, liver, spleen, and bone marrow. In addition, affected individuals key
have an increased risk of developing another lymphoma or other type of cancer. db-key C84.17
html:p Sézary syndrome most often occurs in adults over age 60 and usually progresses key
rapidly; historically, affected individuals survived an average of 2 to 4 years db-key C84.18
after development of the condition, although survival has improved with newer key
treatments. db-key C84.19
html:p Although Sézary syndrome is sometimes referred to as a variant of another key
cutaneous T-cell lymphoma called mycosis fungoides, these two cancers are db-key D012751
generally considered separate conditions. key
db-key 3162
key
related-gene-list 4950009
Sheldon-Hall syndrome https://ghr.nlm.nih.gov/condition/sheldon-hall-syndrome The prevalence of Sheldon-Hall syndrome is unknown; however, it is thought html:p Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a ad autosomal dominant MYH3 https://ghr.nlm.nih.gov/gene/MYH3 arthrogryposis multiplex congenita, distal, type 2B db key 2015-06 2017-12-29
謝爾頓 - 霍爾綜合症 to be the most common type of distal arthrogryposis. About 100 affected disorder characterized by joint deformities (contractures) that restrict related-gene gene-symbol ghr-page DA2B GTR C1834523
individuals have been described in the medical literature. movement in the hands and feet. The term "arthrogryposis" comes from the Greek TNNI2 https://ghr.nlm.nih.gov/gene/TNNI2 distal arthrogryposis type 2B db key
words for joint (arthro-) and crooked or hooked (gryposis). "Distal" refers to related-gene gene-symbol ghr-page SHS ICD-10-CM Q74.3
areas of the body away from the center. The characteristic features of this TNNT3 https://ghr.nlm.nih.gov/gene/TNNT3 db key
condition include permanently bent fingers and toes (camptodactyly), overlapping related-gene gene-symbol ghr-page MeSH D001176
fingers, and a hand deformity called ulnar deviation in which all of the TPM2 https://ghr.nlm.nih.gov/gene/TPM2 db key
fingers are angled outward toward the fifth (pinky) finger. Inward- and OMIM 601680
upward-turning feet (a condition called clubfoot) is also commonly seen in db key
Sheldon-Hall syndrome. The specific hand and foot abnormalities vary among Orphanet 1147
affected individuals; the abnormalities are present at birth and generally do db key
not get worse over time. SNOMED CT 715216008
html:p People with Sheldon-Hall syndrome also usually have distinctive facial features,
which include a triangular face; outside corners of the eyes that point
downward (down-slanting palpebral fissures); deep folds in the skin between the
nose and lips (nasolabial folds); and a small mouth with a high, arched roof of
the mouth (palate). Other features that may occur in Sheldon-Hall syndrome
include extra folds of skin on the neck (webbed neck) and short stature.
html:p Sheldon-Hall syndrome does not usually affect other parts of the body, and
intelligence and life expectancy are normal in this disorder.
related-gene-list
Short/branched chain acyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/short-branched-chain-acyl-coa-dehydrogenase-de SBCAD deficiency is a rare condition; its worldwide prevalence is unknown. html:p Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as ar autosomal recessive ACADSB https://ghr.nlm.nih.gov/gene/ACADSB 2-MBADD db key 2017-02 2017-12-29
ficiency This condition is most common among Hmong populations in Southeast Asia and in 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the 2-MBCD deficiency GTR C1864912
people of Hmong descent, affecting 1 in 250 to 1 in 500 people in these body is unable to process proteins properly. Normally, the body breaks down 2-MBG db key
communities. These individuals do not usually develop health problems related to proteins from food into smaller parts called amino acids. Amino acids can be 2-methylbutyryl-CoA dehydrogenase deficiency MeSH D000592
the condition. further processed to provide energy for the body. People with SBCAD deficiency 2-methylbutyryl-coenzyme A dehydrogenase deficiency db key
cannot process a particular amino acid called isoleucine. 2-methylbutyryl glycinuria OMIM 610006
html:p Most cases of SBCAD deficiency are detected shortly after birth by newborn SBCADD db key
screening, which identifies abnormal levels of certain compounds in the blood. short/branched-chain acyl-CoA dehydrogenase deficiency Orphanet 79157
In individuals with this condition, a compound called 2-methylbutyryl carnitine db key
is elevated in the blood and another called 2-methylbutyrylglycine is elevated SNOMED CT 444838008
in the urine (2-methylbutyrylglycinuria).
html:p Most people with SBCAD deficiency have no health problems related to the
disorder. A small percentage of affected individuals develop signs and symptoms
of the condition, which can begin soon after birth or later in childhood. The
initial symptoms often include poor feeding, lack of energy (lethargy),
vomiting, and irritability. These symptoms sometimes progress to serious health
problems such as difficulty breathing, seizures, and coma. Additional problems
can include poor growth, vision impairment, learning disabilities, muscle
weakness, and delays in motor skills such as standing and walking.
html:p It is unclear why some people with SBCAD deficiency develop health problems and
others do not. Doctors suggest that in some cases, signs and symptoms may be
triggered by infections, prolonged periods without food (fasting), or an
increased amount of protein-rich foods in the diet.
related-gene-list
Short-chain acyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/short-chain-acyl-coa-dehydrogenase-deficiency This disorder is thought to affect approximately 1 in 35,000 to 50,000 html:p Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that ar autosomal recessive ACADS https://ghr.nlm.nih.gov/gene/ACADS ACADS deficiency db key 2015-05 2017-12-29
短鏈脂肪酸去氫酵素缺乏症 newborns. prevents the body from converting certain fats into energy, especially during deficiency of butyryl-CoA dehydrogenase GTR C0342783
periods without food (fasting). lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase db key
html:p Signs and symptoms of SCAD deficiency may appear during infancy or early deficiency GeneReviews scad
childhood and can include vomiting, low blood sugar (hypoglycemia), a lack of SCAD deficiency db key
energy (lethargy), poor feeding, and failure to gain weight and grow at the SCADH deficiency ICD-10-CM E71.312
expected rate (failure to thrive). Other features of this disorder may include short-chain acyl-coenzyme A dehydrogenase deficiency db key
poor muscle tone (hypotonia), seizures, developmental delay, and a small head MeSH D008052
size (microcephaly). db key
html:p The symptoms of SCAD deficiency may be triggered by fasting or illnesses such as OMIM 201470
viral infections. This disorder is sometimes mistaken for Reye syndrome, a db key
severe condition that may develop in children while they appear to be recovering Orphanet 26792
from viral infections such as chicken pox or flu. Most cases of Reye syndrome db key
are associated with the use of aspirin during these viral infections. SNOMED CT 124166007
html:p In some people with SCAD deficiency, signs and symptoms do not appear until db key
adulthood. These individuals are more likely to have problems related to muscle SNOMED CT 237998000
weakness and wasting.
html:p The severity of this condition varies widely, even among members of the same
family. Some individuals are diagnosed with SCAD deficiency based on laboratory
testing but never develop any symptoms of the condition.
related-gene-list
Short QT syndrome https://ghr.nlm.nih.gov/condition/short-qt-syndrome Short QT syndrome appears to be rare. At least 70 cases have been html:p Short QT syndrome is a condition that can cause a disruption of the heart's ad autosomal dominant KCNH2 https://ghr.nlm.nih.gov/gene/KCNH2 SQTS db key 2013-06 2017-12-29
短QT綜合徵 identified worldwide since the condition was discovered in 2000. However, the normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) related-gene gene-symbol ghr-page GTR C1865018
condition may be underdiagnosed because some affected individuals never muscle takes less time than usual to recharge between beats. The term "short QT" KCNJ2 https://ghr.nlm.nih.gov/gene/KCNJ2 db key
experience symptoms. refers to a specific pattern of heart activity that is detected with an related-gene gene-symbol ghr-page GTR C1865019
electrocardiogram (EKG), which is a test used to measure the electrical activity KCNQ1 https://ghr.nlm.nih.gov/gene/KCNQ1 db key
of the heart. In people with this condition, the part of the heartbeat known as GTR C1865020
the QT interval is abnormally short. db key
html:p If untreated, the arrhythmia associated with short QT syndrome can lead to a MeSH D001145
variety of signs and symptoms, from dizziness and fainting (syncope) to cardiac db key
arrest and sudden death. These signs and symptoms can occur any time from early OMIM 609620
infancy to old age. This condition may explain some cases of sudden infant death db key
syndrome (SIDS), which is a major cause of unexplained death in babies younger OMIM 609621
than 1 year. However, some people with short QT syndrome never experience any db key
health problems associated with the condition. OMIM 609622
db key
Orphanet 51083
db key
related-gene-list SNOMED CT 698272007
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, https://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular SHORT syndrome is a rare condition; its prevalence is unknown. Only a few html:p Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, ad autosomal dominant PIK3R1 https://ghr.nlm.nih.gov/gene/PIK3R1 growth retardation-Rieger anomaly db key 2013-12 2017-12-29
and teething delay -depression-rieger-anomaly-and-teething-delay affected individuals and families have been reported worldwide. and teething delay, commonly known by the acronym SHORT syndrome, is a rare lipodystrophy, partial, with Rieger anomaly and short stature GTR C0878684
disorder that affects many parts of the body. short stature-hyperextensibility-Rieger anomaly-teething delay db key
html:p Most people with SHORT syndrome are small at birth and gain weight slowly in SHORT syndrome GeneReviews short
childhood. Affected adults tend to have short stature compared with others in db key
their family. Many have a lack of fatty tissue under the skin (lipoatrophy), MeSH D006130
primarily in the face, arms, and chest. This lack of fat, together with thin, db key
wrinkled skin and veins visible beneath the skin, makes affected individuals OMIM 269880
look older than their biological age. This appearance of premature aging is db key
sometimes described as progeroid. Orphanet 3163
html:p Most people with SHORT syndrome have distinctive facial features. These include db key
a triangular face shape with a prominent forehead and deep-set eyes (ocular SNOMED CT 237608006
depression), thin nostrils, a downturned mouth, and a small chin. Eye
abnormalities are common in affected individuals, particularly Rieger anomaly,
which affects structures at the front of the eye. Rieger anomaly can be
associated with increased pressure in the eye (glaucoma) and vision loss. Some
people with SHORT syndrome also have dental abnormalities such as delayed
appearance (eruption) of teeth in early childhood, small teeth, fewer teeth than
normal (hypodontia), and a lack of protective covering (enamel) on the surface
of the teeth.
html:p Other signs and symptoms that have been reported in people with SHORT syndrome
include immune system abnormalities, a kidney disorder known as
nephrocalcinosis, hearing loss, loose (hyperextensible) joints, and a soft
out-pouching in the lower abdomen called an inguinal hernia. A few affected
individuals have developed problems with blood sugar regulation including
insulin resistance and diabetes. Most people with SHORT syndrome have normal
intelligence, although a few have been reported with mild cognitive impairment
or delayed development of speech in childhood.
related-gene-list
Shprintzen-Goldberg syndrome https://ghr.nlm.nih.gov/condition/shprintzen-goldberg-syndrome Shprintzen-Goldberg syndrome is a rare condition, although its prevalence html:p Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. ad autosomal dominant FBN1 https://ghr.nlm.nih.gov/gene/FBN1 Marfanoid-craniosynostosis syndrome db key 2016-05 2017-12-29
Shprintzen-Goldberg綜合症 is unknown. It is difficult to identify the number of affected individuals, Affected individuals have a combination of distinctive facial features and related-gene gene-symbol ghr-page Shprintzen-Goldberg craniosynostosis syndrome GTR C1321551
because some cases diagnosed as Shprintzen-Goldberg syndrome may instead be skeletal and neurological abnormalities. SKI https://ghr.nlm.nih.gov/gene/SKI db key
Marfan syndrome or Loeys-Dietz syndrome, which have overlapping signs and html:p A common feature in people with Shprintzen-Goldberg syndrome is GeneReviews sgs
symptoms. craniosynostosis, which is the premature fusion of certain skull bones. This db key
early fusion prevents the skull from growing normally. Affected individuals can MeSH D003398
also have distinctive facial features, including a long, narrow head; widely db key
spaced eyes (hypertelorism); protruding eyes (exophthalmos); outside corners of OMIM 182212
the eyes that point downward (downslanting palpebral fissures); a high, narrow db key
palate; a small lower jaw (micrognathia); and low-set ears that are rotated Orphanet 2462
backward. db key
html:p People with Shprintzen-Goldberg syndrome are often said to have a marfanoid SNOMED CT 719069008
habitus, because their bodies resemble those of people with a genetic condition
called Marfan syndrome. For example, they may have long, slender fingers
(arachnodactyly), unusually long limbs, a sunken chest (pectus excavatum) or
protruding chest (pectus carinatum), and an abnormal side-to-side curvature of
the spine (scoliosis). People with Shprintzen-Goldberg syndrome can have other
skeletal abnormalities, such as one or more fingers that are permanently bent
(camptodactyly) and an unusually large range of joint movement (hypermobility).
html:p People with Shprintzen-Goldberg syndrome often have delayed development and mild
to moderate intellectual disability.
html:p Other common features of Shprintzen-Goldberg syndrome include heart or brain
abnormalities, weak muscle tone (hypotonia) in infancy, and a soft out-pouching
around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia).
html:p Shprintzen-Goldberg syndrome has signs and symptoms similar to those of Marfan
syndrome and another genetic condition called Loeys-Dietz syndrome. However,
intellectual disability is more likely to occur in Shprintzen-Goldberg syndrome
than in the other two conditions. In addition, heart abnormalities are more
common and usually more severe in Marfan syndrome and Loeys-Dietz syndrome.
related-gene-list
Shwachman-Diamond syndrome https://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome Researchers are not sure how common Shwachman-Diamond syndrome is. Several html:p Shwachman-Diamond syndrome is an inherited condition that affects many parts of ar autosomal recessive SBDS https://ghr.nlm.nih.gov/gene/SBDS Congenital Lipomatosis of Pancreas db key 2007-12 2017-12-29
Shwachman-Diamond綜合症 hundred cases have been reported in scientific studies. the body, particularly the bone marrow, pancreas, and skeletal system. Metaphyseal chondrodysplasia, Shwachman type GTR C0272170
html:p The major function of bone marrow is to produce new blood cells. These include SDS db key
red blood cells, which carry oxygen to the body's tissues; white blood cells, Shwachman-Bodian-Diamond syndrome GeneReviews sds
which fight infection; and platelets, which are blood cell fragments that are Shwachman-Bodian syndrome db key
necessary for normal blood clotting. In Shwachman-Diamond syndrome, the bone Shwachman-Diamond-Oski Syndrome MeSH D001855
marrow malfunctions and does not make some or all types of white blood cells. A Shwachman syndrome db key
shortage of neutrophils, the most common type of white blood cell, causes a MeSH D010188
condition called neutropenia. Most people with Shwachman-Diamond syndrome have db key
at least occasional episodes of neutropenia, which makes them more vulnerable to OMIM 260400
infections such as pneumonia, recurrent ear infections (otitis media), and skin db key
infections. Less commonly, bone marrow abnormalities lead to a shortage of red Orphanet 811
blood cells (anemia), which causes fatigue and weakness, or a reduction in the db key
amount of platelets (thrombocytopenia), which can result in easy bruising and SNOMED CT 89454001
abnormal bleeding.
html:p People with Shwachman-Diamond syndrome have an increased risk of several serious
complications related to their malfunctioning bone marrow. Specifically, they
have a higher-than-average chance of developing myelodysplastic syndrome (MDS)
and aplastic anemia, which are disorders that affect blood cell production, and
a cancer of blood-forming tissue known as acute myeloid leukemia (AML).
html:p Shwachman-Diamond syndrome also affects the pancreas, which is an organ that
plays an essential role in digestion. One of this organ's main functions is to
produce enzymes that help break down and use the nutrients from food. In most
infants with Shwachman-Diamond syndrome, the pancreas does not produce enough of
these enzymes. This condition is known as pancreatic insufficiency. Infants
with pancreatic insufficiency have trouble digesting food and absorbing
nutrients that are needed for growth. As a result, they often have fatty,
foul-smelling stools (steatorrhea); are slow to grow and gain weight (failure to
thrive); and experience malnutrition. Pancreatic insufficiency often improves
with age in people with Shwachman-Diamond syndrome.
html:p Skeletal abnormalities are another common feature of Shwachman-Diamond syndrome.
Many affected individuals have problems with bone formation and growth, most
often affecting the hips and knees. Low bone density is also frequently
associated with this condition. Some infants are born with a narrow rib cage
and short ribs, which can cause life-threatening problems with breathing. The
combination of skeletal abnormalities and slow growth results in short stature
in most people with this disorder.
html:p The complications of this condition can affect several other parts of the body,
including the liver, heart, endocrine system (which produces hormones), eyes,
teeth, and skin. Additionally, studies suggest that Shwachman-Diamond syndrome
may be associated with delayed speech and the delayed development of motor
skills such as sitting, standing, and walking.
related-gene-list
Sialic acid storage disease https://ghr.nlm.nih.gov/condition/sialic-acid-storage-disease Sialic acid storage disease is a very rare disorder. ISSD has been html:p Sialic acid storage disease is an inherited disorder that primarily affects the ar autosomal recessive SLC17A5 https://ghr.nlm.nih.gov/gene/SLC17A5 free sialic acid storage disease db key 2008-02 2017-12-29
identified in only a few dozen infants worldwide. Salla disease occurs mainly in nervous system. People with sialic acid storage disease have signs and symptoms N-acetylneuraminic acid storage disease GTR C1096902
Finland and Sweden and has been reported in approximately 150 people. A few that may vary widely in severity. This disorder is generally classified into one NANA storage disease db key
individuals have been identified as having intermediate severe Salla disease. of three forms: infantile free sialic acid storage disease, Salla disease, and sialuria, Finnish type GTR C1096903
intermediate severe Salla disease. db key
html:p Infantile free sialic acid storage disease (ISSD) is the most severe form of GeneReviews issd
this disorder. Babies with this condition have severe developmental delay, weak db key
muscle tone (hypotonia), and failure to gain weight and grow at the expected MeSH D029461
rate (failure to thrive). They may have unusual facial features that are often db key
described as "coarse," seizures, bone malformations, an enlarged liver and OMIM 269920
spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly). The abdomen db key
may be swollen due to the enlarged organs and an abnormal buildup of fluid in OMIM 604369
the abdominal cavity (ascites). Affected infants may have a condition called db key
hydrops fetalis in which excess fluid accumulates in the body before birth. Orphanet 834
Children with this severe form of the condition usually live only into early db key
childhood. SNOMED CT 238051008
html:p Salla disease is a less severe form of sialic acid storage disease. Babies with db key
Salla disease usually begin exhibiting hypotonia during the first year of life SNOMED CT 34566007
and go on to experience progressive neurological problems. Signs and symptoms of db key
Salla disease include intellectual disability and developmental delay, SNOMED CT 87074006
seizures, problems with movement and balance (ataxia), abnormal tensing of the
muscles (spasticity), and involuntary slow, sinuous movements of the limbs
(athetosis). Individuals with Salla disease usually survive into adulthood.
html:p People with intermediate severe Salla disease have signs and symptoms that fall
between those of ISSD and Salla disease in severity.
related-gene-list
Sialidosis https://ghr.nlm.nih.gov/condition/sialidosis The overall prevalence of sialidosis is unknown. Sialidosis type I appears html:p Sialidosis is a severe inherited disorder that affects many organs and tissues, ar autosomal recessive NEU1 https://ghr.nlm.nih.gov/gene/NEU1 cherry red spot myoclonus syndrome db key 2010-05 2017-12-29
涎酸酵素缺乏症 to be more common in people with Italian ancestry. including the nervous system. This disorder is divided into two types, which are mucolipidosis I GTR C0268226
distinguished by the age at which symptoms appear and the severity of features. mucolipidosis type I db key
html:p Sialidosis type I, also referred to as cherry-red spot myoclonus syndrome, is myoclonus cherry red spot syndrome GTR C0268228
the less severe form of this condition. People with type I develop signs and db key
symptoms of sialidosis in their teens or twenties. Initially, affected MeSH D009081
individuals experience problems walking (gait disturbance) and/or a loss of db key
sharp vision (reduced visual acuity). Individuals with sialidosis type I also OMIM 256550
experience muscle twitches (myoclonus), difficulty coordinating movements db key
(ataxia), leg tremors, and seizures. The myoclonus worsens over time, causing Orphanet 812
difficulty sitting, standing, or walking. People with sialidosis type I db key
eventually require wheelchair assistance. Affected individuals have progressive Orphanet 87876
vision problems, including impaired color vision or night blindness. An eye db key
abnormality called a cherry-red spot, which can be identified with an eye SNOMED CT 124461006
examination, is characteristic of this disorder. Sialidosis type I does not db key
affect intelligence or life expectancy. SNOMED CT 34960006
html:p Sialidosis type II, the more severe type of the disorder, is further divided db key
into congenital, infantile, and juvenile forms. The features of congenital SNOMED CT 38795005
sialidosis type II can develop before birth. This form of sialidosis is
associated with an abnormal buildup of fluid in the abdominal cavity (ascites)
or widespread swelling before birth caused by fluid accumulation (hydrops
fetalis). Affected infants may also have an enlarged liver and spleen
(hepatosplenomegaly), abnormal bone development (dysostosis multiplex), and
distinctive facial features that are often described as "coarse." As a result
of these serious health problems, individuals with congenital sialidosis type II
usually are stillborn or die soon after birth.
html:p Infantile sialidosis type II shares some features with the congenital form,
although the signs and symptoms are slightly less severe and begin within the
first year of life. Features of the infantile form include hepatosplenomegaly,
dysostosis multiplex, "coarse" facial features, short stature, and intellectual
disability. As children with infantile sialidosis type II get older, they may
develop myoclonus and cherry-red spots. Other signs and symptoms include hearing
loss, overgrowth of the gums (gingival hyperplasia), and widely spaced teeth.
Affected individuals may survive into childhood or adolescence.
html:p The juvenile form has the least severe signs and symptoms of the different forms
of sialidosis type II. Features of this condition usually appear in late
childhood and may include mildly "coarse" facial features, mild bone
abnormalities, cherry-red spots, myoclonus, intellectual disability, and dark
red spots on the skin (angiokeratomas). The life expectancy of individuals with
juvenile sialidosis type II varies depending on the severity of symptoms.
related-gene-list
Sialuria https://ghr.nlm.nih.gov/condition/sialuria Fewer than 10 people worldwide have been diagnosed with sialuria. There are html:p Sialuria is a rare disorder that has variable effects on development. Affected ad autosomal dominant GNE https://ghr.nlm.nih.gov/gene/GNE French type sialuria db key 2008-12 2017-12-29
唾液酸尿症 probably more people with the disorder who have not been diagnosed, as sialuria infants are often born with a yellow tint to the skin and the whites of the eyes Sialuria, French type GTR C0342853
can be difficult to detect because of its variable features. (neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and db key
unusually small red blood cells (microcytic anemia). They may develop a GeneReviews sft
somewhat flat face and distinctive-looking facial features that are described as db key
"coarse." Temporarily delayed development and weak muscle tone (hypotonia) have MeSH D008661
also been reported. db key
html:p Young children with sialuria tend to have frequent upper respiratory infections OMIM 269921
and episodes of dehydration and stomach upset (gastroenteritis). Older children db key
may have seizures and learning difficulties. In some affected children, Orphanet 3166
intellectual development is nearly normal. db key
html:p The features of sialuria vary widely among affected people. Many of the SNOMED CT 238051008
problems associated with this disorder appear to improve with age, although
little is known about the long-term effects of the disease. It is likely that
some adults with sialuria never come to medical attention because they have very
mild signs and symptoms or no health problems related to the condition.
related-gene-list
Sick sinus syndrome https://ghr.nlm.nih.gov/condition/sick-sinus-syndrome Sick sinus syndrome accounts for 1 in 600 patients with heart disease who html:p Sick sinus syndrome (also known as sinus node dysfunction) is a group of related ad autosomal dominant HCN4 https://ghr.nlm.nih.gov/gene/HCN4 sinus node disease db key 2013-08 2017-12-29
病竇症候群 are over age 65. The incidence of this condition increases with age. heart conditions that can affect how the heart beats. "Sick sinus" refers to code memo related-gene gene-symbol ghr-page sinus node dysfunction GTR C1834144
the sino-atrial (SA) node, which is an area of specialized cells in the heart ar autosomal recessive MYH6 https://ghr.nlm.nih.gov/gene/MYH6 SND db key
that functions as a natural pacemaker. The SA node generates electrical impulses related-gene gene-symbol ghr-page SSS GTR C1837845
that start each heartbeat. These signals travel from the SA node to the rest of SCN5A https://ghr.nlm.nih.gov/gene/SCN5A db key
the heart, signaling the heart (cardiac) muscle to contract and pump blood. In GTR C3279791
people with sick sinus syndrome, the SA node does not function normally. In some db key
cases, it does not produce the right signals to trigger a regular heartbeat. In ICD-10-CM I49.5
others, abnormalities disrupt the electrical impulses and prevent them from db key
reaching the rest of the heart. MeSH D012804
html:p Sick sinus syndrome tends to cause the heartbeat to be too slow (bradycardia), db key
although occasionally the heartbeat is too fast (tachycardia). In some cases, OMIM 163800
the heartbeat rapidly switches from being too fast to being too slow, a db key
condition known as tachycardia-bradycardia syndrome. Symptoms related to OMIM 608567
abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), db key
a sensation of fluttering or pounding in the chest (palpitations), and OMIM 614090
confusion or memory problems. During exercise, many affected individuals db key
experience chest pain, difficulty breathing, or excessive tiredness (fatigue). Orphanet 166282
Once symptoms of sick sinus syndrome appear, they usually worsen with time. db key
However, some people with the condition never experience any related health SNOMED CT 233913007
problems. db key
html:p Sick sinus syndrome occurs most commonly in older adults, although it can be SNOMED CT 36083008
diagnosed in people of any age. The condition increases the risk of several db key
life-threatening problems involving the heart and blood vessels. These include a SNOMED CT 60423000
heart rhythm abnormality called atrial fibrillation, heart failure, cardiac
arrest, and stroke.
related-gene-list
Sickle cell disease https://ghr.nlm.nih.gov/condition/sickle-cell-disease Sickle cell disease affects millions of people worldwide. It is most html:p Sickle cell disease is a group of disorders that affects hemoglobin, the ar autosomal recessive HBB https://ghr.nlm.nih.gov/gene/HBB HbS disease db key 2012-08 2017-12-29
鐮刀型紅血球疾病 common among people whose ancestors come from Africa; Mediterranean countries molecule in red blood cells that delivers oxygen to cells throughout the body. Hemoglobin S Disease GTR C0002895
such as Greece, Turkey, and Italy; the Arabian Peninsula; India; and People with this disorder have atypical hemoglobin molecules called hemoglobin SCD db key
Spanish-speaking regions in South America, Central America, and parts of the S, which can distort red blood cells into a sickle, or crescent, shape. Sickle cell disorders GeneReviews sickle
Caribbean.Sickle cell disease is the most common inherited blood disorder in the html:p Signs and symptoms of sickle cell disease usually begin in early childhood. Sickling disorder due to hemoglobin S db key
United States, affecting 70,000 to 80,000 Americans. The disease is estimated Characteristic features of this disorder include a low number of red blood cells ICD-10-CM D57
to occur in 1 in 500 African Americans and 1 in 1,000 to 1,400 Hispanic (anemia), repeated infections, and periodic episodes of pain. The severity of db key
Americans. symptoms varies from person to person. Some people have mild symptoms, while ICD-10-CM D57.0
others are frequently hospitalized for more serious complications. db key
html:p The signs and symptoms of sickle cell disease are caused by the sickling of red ICD-10-CM D57.00
blood cells. When red blood cells sickle, they break down prematurely, which db key
can lead to anemia. Anemia can cause shortness of breath, fatigue, and delayed ICD-10-CM D57.01
growth and development in children. The rapid breakdown of red blood cells may db key
also cause yellowing of the eyes and skin, which are signs of jaundice. Painful ICD-10-CM D57.1
episodes can occur when sickled red blood cells, which are stiff and db key
inflexible, get stuck in small blood vessels. These episodes deprive tissues ICD-10-CM D57.02
and organs of oxygen-rich blood and can lead to organ damage, especially in the db key
lungs, kidneys, spleen, and brain. A particularly serious complication of ICD-10-CM D57.2
sickle cell disease is high blood pressure in the blood vessels that supply the db key
lungs (pulmonary hypertension). Pulmonary hypertension occurs in about ICD-10-CM D57.3
one-third of adults with sickle cell disease and can lead to heart failure. db key
ICD-10-CM D57.4
db key
ICD-10-CM D57.8
db key
ICD-10-CM D57.20
db key
ICD-10-CM D57.21
db key
ICD-10-CM D57.40
db key
ICD-10-CM D57.41
db key
ICD-10-CM D57.80
db key
ICD-10-CM D57.81
db key
ICD-10-CM D57.211
db key
ICD-10-CM D57.212
db key
ICD-10-CM D57.219
db key
ICD-10-CM D57.411
db key
ICD-10-CM D57.412
db key
ICD-10-CM D57.419
db key
ICD-10-CM D57.811
db key
ICD-10-CM D57.812
db key
ICD-10-CM D57.819
db key
MeSH D000755
db key
OMIM 603903
db key
Orphanet 232
db key
SNOMED CT 127041004
db key
SNOMED CT 127045008
db key
SNOMED CT 416180004
db key
SNOMED CT 417357006
db key
related-gene-list SNOMED CT 417425009
Silver syndrome https://ghr.nlm.nih.gov/condition/silver-syndrome Although Silver syndrome appears to be a rare condition, its exact html:p Silver syndrome belongs to a group of genetic disorders known as hereditary ad autosomal dominant BSCL2 https://ghr.nlm.nih.gov/gene/BSCL2 Silver spastic paraplegia syndrome db key 2012-02 2017-12-29
prevalence is unknown. spastic paraplegias. These disorders are characterized by progressive muscle spastic paraplegia 17 GTR CN074197
stiffness (spasticity) and, frequently, development of paralysis of the lower spastic paraplegia with amyotrophy of hands and feet db key
limbs (paraplegia). Hereditary spastic paraplegias （痙攣性下半身麻痺） are divided into two types: SPG17 GeneReviews hsp
pure and complex. Both types involve the lower limbs; the complex types may also db key
involve the upper limbs, although to a lesser degree. In addition, the complex GeneReviews spg17
types may affect the brain and parts of the nervous system involved in muscle db key
movement and sensations. Silver syndrome is a complex hereditary spastic ICD-10-CM G11.4
paraplegia. db key
html:p The first sign of Silver syndrome is usually weakness in the muscles of the MeSH D015419
hands. These muscles waste away (amyotrophy), resulting in abnormal positioning db key
of the thumbs and difficulty using the fingers and hands for tasks such as Orphanet 100998
handwriting. People with Silver syndrome often have high-arched feet (pes cavus) db key
and spasticity in the legs. The signs and symptoms of Silver syndrome typically SNOMED CT 230261006
begin in late childhood but can start anytime from early childhood to late db key
adulthood. The muscle problems associated with Silver syndrome slowly worsen SNOMED CT 39912006
with age, but affected individuals can remain active throughout life.
related-gene-list
Simpson-Golabi-Behmel syndrome https://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome The incidence of Simpson-Golabi-Behmel syndrome is unknown. At least 250 html:p Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the x X-linked GPC3 https://ghr.nlm.nih.gov/gene/GPC3 DGSX db key 2017-07 2017-12-29
SimpsonGolabiBehmel 症候群 people worldwide have been diagnosed with this disorder. body and occurs primarily in males. This condition is classified as an related-gene gene-symbol ghr-page mental retardation-overgrowth syndrome GTR C0796154
overgrowth syndrome, which means that affected infants are considerably larger GPC4 https://ghr.nlm.nih.gov/gene/GPC4 SDYS db key
than normal at birth (macrosomia) and continue to grow and gain weight at an related-gene gene-symbol ghr-page SGBS GTR C1846175
unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome OFD1 https://ghr.nlm.nih.gov/gene/OFD1 SGBS1 db key
vary widely. People with mild cases often live into adulthood. related-gene gene-symbol ghr-page Simpson dysplasia syndrome GeneReviews sgbs
html:p People with Simpson-Golabi-Behmel syndrome have distinctive facial features PIGA https://ghr.nlm.nih.gov/gene/PIGA Simpson-Golabi-Behmel syndrome type 1 db key
including widely spaced eyes (ocular hypertelorism), an unusually large mouth Simpson syndrome MeSH D000015
(macrostomia), a large tongue (macroglossia) that may have a deep groove or db key
furrow down the middle, a broad nose with an upturned tip, and abnormalities MeSH D005877
affecting the roof of the mouth (the palate). The facial features are often db key
described as "coarse" in older children and adults with this condition. OMIM 300209
html:p Other features of Simpson-Golabi-Behmel syndrome involve the chest and abdomen. db key
Affected infants may be born with one or more extra nipples, an abnormal opening OMIM 312870
in the muscle covering the abdomen (diastasis recti), a soft out-pouching db key
around the belly-button (an umbilical hernia), or a hole in the diaphragm (a Orphanet 373
diaphragmatic hernia) that allows the stomach and intestines to move into the db key
chest and crowd the developing heart and lungs. Orphanet 79022
html:p Simpson-Golabi-Behmel syndrome can also cause heart defects, malformed or db key
abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and SNOMED CT 439143004
skeletal abnormalities. Additionally, the syndrome can affect the development
of the gastrointestinal system, urinary system, and genitalia. Some people with
this condition have mild to severe intellectual disability, while others have
normal intelligence.
html:p About 10 percent of people with Simpson-Golabi-Behmel syndrome develop cancerous
or noncancerous tumors in early childhood. The most common tumors are a rare
form of kidney cancer called Wilms tumor and a cancerous tumor called a
neuroblastoma that arises from developing nerve cells.
related-gene-list
Sitosterolemia https://ghr.nlm.nih.gov/condition/sitosterolemia Only 80 to 100 individuals with sitosterolemia have been described in the html:p Sitosterolemia is a condition in which fatty substances (lipids) from vegetable ar autosomal recessive ABCG5 https://ghr.nlm.nih.gov/gene/ABCG5 beta-sitosterolemia db key 2016-11 2017-12-29
豆固醇血症 〈植物性〉 medical literature. However, researchers believe that this condition is likely oils, nuts, and other plant-based foods accumulate in the blood and tissues. related-gene gene-symbol ghr-page phytosterolaemia GTR C0342907
underdiagnosed because mild cases often do not come to medical attention. These lipids are called plant sterols (or phytosterols). Sitosterol is one of ABCG8 https://ghr.nlm.nih.gov/gene/ABCG8 phytosterolemia db key
Studies suggest that the prevalence may be at least 1 in 50,000 people. several plant sterols that accumulate in this disorder, with a blood level 30 to plant sterol storage disease GeneReviews stsl
100 times greater than normal. Cholesterol, a similar fatty substance found in sitosterolaemia db key
animal products, is mildly to moderately elevated in many people with MeSH D008052
sitosterolemia. Cholesterol levels are particularly high in some affected db key
children. However, some people with sitosterolemia have normal cholesterol OMIM 210250
levels. db key
html:p Plant sterols are not produced by the body; they are taken in as components of Orphanet 2882
foods. Signs and symptoms of sitosterolemia may begin to appear early in life db key
after foods containing plant sterols are introduced into the diet, although some SNOMED CT 238104009
affected individuals have no obvious symptoms. db key
html:p In people with sitosterolemia, accumulation of fatty deposits in arteries SNOMED CT 65419005
(atherosclerosis) can occur as early as childhood. These deposits narrow the
arteries and can eventually block blood flow, increasing the chance of a heart
attack, stroke, or sudden death.
html:p Some people with sitosterolemia develop small yellowish growths called xanthomas
beginning in childhood. Xanthomas consist of accumulated lipids and may be
located anywhere on or just under the skin, typically on the heels, knees,
elbows, and buttocks. They may also occur in the bands that connect muscles to
bones (tendons), including tendons of the hand and the tendon that connects the
heel of the foot to the calf muscles (the Achilles tendon). Large xanthomas can
cause pain, difficulty with movement, and cosmetic problems.
html:p Joint stiffness and pain resulting from plant sterol deposits may also occur in
individuals with sitosterolemia. Less often, affected individuals have blood
abnormalities. Occasionally the blood abnormalities are the only signs of the
disorder. The red blood cells may be broken down (undergo hemolysis)
prematurely, resulting in a shortage of red blood cells (anemia). This type of
anemia is called hemolytic anemia. Affected individuals sometimes have
abnormally shaped red blood cells called stomatocytes. In addition, the blood
cell fragments involved in clotting, called platelets or thrombocytes, may be
abnormally large (macrothrombocytopenia).
related-gene-list
Sjögren-Larsson syndrome https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome Sjögren-Larsson syndrome was first observed in Sweden, where the prevalence html:p Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin ar autosomal recessive ALDH3A2 https://ghr.nlm.nih.gov/gene/ALDH3A2 congenital icthyosis mental retardation spasticity syndrome db key 2011-10 2017-12-29
Sjögren-Larsson綜合徵 of this condition is 1 per 250,000 individuals. Outside Sweden, the prevalence (ichthyosis); neurological problems; and eye problems. These symptoms are FALDH deficiency GTR C0037231
of this condition is unknown. apparent by early childhood and usually do not worsen with age. fatty aldehyde dehydrogenase deficiency db key
html:p Affected infants tend to be born prematurely. At birth the skin is red ichthyosis oligophrenia syndrome MeSH D016111
(erythema), but later in infancy the skin becomes dry, rough, and scaly with a Sjogren-Larsson syndrome db key
brownish or yellowish tone. Mild to severe itchiness (pruritus) is also common. SLS OMIM 270200
These skin abnormalities are generally dispersed over the whole body, most db key
severely affecting the nape of the neck, the torso, and the extremities. The SNOMED CT 111303009
skin of the face is usually not affected.
html:p People with this condition may also have neurological signs and symptoms. Most
affected individuals have leukoencephalopathy, which is a change in a type of
brain tissue called white matter. White matter consists of nerve fibers covered
by a substance (myelin) that insulates and protects the nerves. The
leukoencephalopathy is thought to contribute to many of the neurological signs
and symptoms in people with Sjögren-Larsson syndrome. Most affected individuals
have intellectual disability that varies from mild to profound and is usually
apparent by early childhood. People with Sjögren-Larsson syndrome have speech
difficulties (dysarthria) and delayed speech. Usually they are able to produce
only short sentences with poorly formed words. Rarely, people with this
condition have normal intelligence. In addition, approximately 40 percent of
people with Sjögren-Larsson syndrome have seizures.
html:p Children with this condition often experience delayed development of motor
skills (such as crawling and walking) due to abnormal muscle stiffness
(spasticity) that is typically in their legs and, less commonly, also in their
arms. About one-half of people with Sjögren-Larsson syndrome require wheelchair
assistance and many others need some form of support to walk.
html:p Affected individuals have tiny crystals in the light-sensitive tissue at the
back of the eye (retina) that can be seen during an eye exam. Based on their
appearance, these retinal crystals are often called glistening white dots. These
white dots are usually apparent by early childhood, and it is unclear if they
affect normal vision. People with Sjögren-Larsson syndrome may also have
nearsightedness (myopia) or an increased sensitivity to light (photophobia).
synonym-list db-key-list
Sjögren syndrome https://ghr.nlm.nih.gov/condition/sjogren-syndrome Sjögren syndrome is a relatively common disorder; it occurs in 0.1 to 4 html:p Sjögren syndrome is a disorder whose main features are dry eyes and a dry mouth. u pattern unknown synonym Gougerot-Houwer-Sjogren syndrome key 2017-12-29
修格连氏症候群 percent of the population. It is difficult to determine the exact prevalence The condition typically develops gradually beginning in middle adulthood, but synonym Gougerot-Sjogren syndrome db-key C1527336
舍格伦综合症 because the characteristic features of this disorder, dry eyes and dry mouth, it can occur at any age. synonym keratoconjunctivitis sicca key
干燥综合症 can also be caused by many other conditions. Women develop Sjögren syndrome html:p Sjögren syndrome is classified as an autoimmune disorder, one of a large group synonym keratoconjunctivitis sicca-xerostomia db-key M35.0
about 10 times more often than men; the specific reason for this difference is of conditions that occur when the immune system attacks the body's own tissues synonym secreto-inhibitor-xerodermostenosis key
unknown but likely involves the effects of sex hormones on immune system and organs. In Sjögren syndrome, the immune system primarily attacks the glands synonym sicca syndrome db-key M35.00
function. that produce tears (the lacrimal glands) and saliva (the salivary glands), synonym Sjogren-Gougerot syndrome key
impairing the glands' ability to secrete these fluids. synonym Sjogren's syndrome db-key M35.01
html:p Dry eyes may lead to itching, burning, a feeling of sand in the eyes, blurry key
vision, or intolerance of bright or fluorescent lighting. A dry mouth can feel db-key M35.02
chalky or full of cotton, and affected individuals may have difficulty speaking, key
tasting food, or swallowing. Because saliva helps protect the teeth and the db-key M35.03
tissues of the oral cavity, people with Sjögren syndrome are at increased risk key
of tooth decay and infections in the mouth. db-key M35.04
html:p In most people with Sjögren syndrome, dry eyes and dry mouth are the primary key
features of the disorder, and general health and life expectancy are largely db-key M35.09
unaffected. However, in some cases the immune system also attacks and damages key
other organs and tissues. This complication is known as extraglandular db-key D012859
involvement. Affected individuals may develop inflammation in connective key
tissues, which provide strength and flexibility to structures throughout the db-key 270150
body. Disorders involving connective tissue inflammation are sometimes called key
rheumatic conditions. In Sjögren syndrome, extraglandular involvement may result db-key 378
in painful inflammation of the joints and muscles; dry, itchy skin and skin key
rashes; chronic cough; a hoarse voice; kidney and liver problems; numbness or db-key 302896008
tingling in the hands and feet; and, in women, vaginal dryness. Prolonged and key
extreme tiredness (fatigue) severe enough to affect activities of daily living 83901003
may also occur in this disorder. A small number of people with Sjögren syndrome
develop lymphoma, a blood-related cancer that causes tumor formation in the
lymph nodes.
html:p Some individuals who are first diagnosed with another rheumatic disorder, such
as rheumatoid arthritis or systemic lupus erythematosus, later develop the dry
eyes and dry mouth characteristic of Sjögren syndrome. Other autoimmune
disorders can also develop after the onset of Sjögren syndrome. In all, about
half of all individuals with Sjögren syndrome also have another autoimmune
disorder.
Skeletal Dysplasia
骨骼發育異常
inheritance-pattern-list related-gene-list
SLC4A1-associated distal renal tubular acidosis https://ghr.nlm.nih.gov/condition/slc4a1-associated-distal-renal-tubular-acidosi The prevalence of SLC4A1-associated distal renal tubular acidosis is html:p html:i ad autosomal dominant ghr-page classic distal renal tubular acidosis db-key db key 2014-08 2017-12-29
SLC4A1相關的遠端腎小管酸中毒 s unknown. The condition is most common in Southeast Asia, especially Thailand. SLC4A1 inheritance-pattern code memo https://ghr.nlm.nih.gov/gene/SLC4A1 renal tubular acidosis type I GTR C0259810
ar autosomal recessive RTA, classic type db-key db key
In rare cases, these kidney abnormalities lead to life-threatening kidney failure. GTR C1969038
db-key db key
MeSH D000141
db-key db key
OMIM 179800
db-key db key
-associated distal renal tubular acidosis have excess calcium in the urine OMIM 611590
(hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney db-key db key
stones (nephrolithiasis). In rare cases, these kidney abnormalities lead to Orphanet 18
life-threatening kidney failure. Affected individuals may also have low levels db-key db key
of potassium in the blood (hypokalemia). Orphanet 93608
html:p Individuals with the features described above have complete distal renal tubular db-key db key
acidosis, which usually becomes apparent in childhood. Some people do not Orphanet 93610
develop metabolic acidosis even though their kidneys have trouble removing db-key db key
acids; these individuals are said to have incomplete distal renal tubular SNOMED CT 236461000
acidosis. Additionally, these individuals may have other features of distal
renal tubular acidosis, such as bone problems and kidney stones. Often, people
who initially have incomplete distal renal tubular acidosis develop metabolic
acidosis later in life.
html:p html:i
SLC4A1
html:p html:i
SLC4A1
related-gene-list
Small fiber neuropathy https://ghr.nlm.nih.gov/condition/small-fiber-neuropathy The prevalence of small fiber neuropathy is unknown. html:p Small fiber neuropathy is a condition characterized by severe pain attacks that ad autosomal dominant SCN9A https://ghr.nlm.nih.gov/gene/SCN9A SFN db key 2012-11 2017-12-29
typically begin in the feet or hands. As a person ages, the pain attacks can related-gene gene-symbol ghr-page SFNP GTR C3276709
affect other regions. Some people initially experience a more generalized, SCN10A https://ghr.nlm.nih.gov/gene/SCN10A small nerve fiber neuropathy db key
whole-body pain. The attacks usually consist of pain described as stabbing or MeSH D000071075
burning, or abnormal skin sensations such as tingling or itchiness. In some db key
individuals, the pain is more severe during times of rest or at night. The signs OMIM 133020
and symptoms of small fiber neuropathy usually begin in adolescence to db key
mid-adulthood. Orphanet 306577
html:p Individuals with small fiber neuropathy cannot feel pain that is concentrated in db key
a very small area, such as the prick of a pin. However, they have an increased SNOMED CT 709489006
sensitivity to pain in general (hyperalgesia) and experience pain from
stimulation that typically does not cause pain (hypoesthesia). People affected
with this condition may also have a reduced ability to differentiate between hot
and cold. However, in some individuals, the pain attacks are provoked by cold
or warm triggers.
html:p Some affected individuals have urinary or bowel problems, episodes of rapid
heartbeat (palpitations), dry eyes or mouth, or abnormal sweating. They can also
experience a sharp drop in blood pressure upon standing (orthostatic
hypotension), which can cause dizziness, blurred vision, or fainting.
html:p Small fiber neuropathy is considered a form of peripheral neuropathy because it
affects the peripheral nervous system, which connects the brain and spinal cord
to muscles and to cells that detect sensations such as touch, smell, and pain.
related-gene-list
Smith-Lemli-Opitz syndrome, SLOS https://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 60,000 html:p Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts ar autosomal recessive DHCR7 https://ghr.nlm.nih.gov/gene/DHCR7 7-Dehydrocholesterol reductase deficiency db key 2007-07 2017-12-29
Smith-Lemli-Opitz症候群 newborns. This condition is most common in whites of European ancestry, of the body. This condition is characterized by distinctive facial features, RSH Syndrome GTR C0175694
史密斯-藍利-歐比司症候群 particularly people from Central European countries such as Slovakia and the small head size (microcephaly), intellectual disability or learning problems, SLO syndrome db key
Czech Republic. It is very rare among African and Asian populations. and behavioral problems. Many affected children have the characteristic SLOS GeneReviews slo
features of autism, a developmental condition that affects communication and db key
social interaction. Malformations of the heart, lungs, kidneys, ICD-10-CM E78.72
gastrointestinal tract, and genitalia are also common. Infants with db key
Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding MeSH D019082
difficulties, and tend to grow more slowly than other infants. Most affected db key
individuals have fused second and third toes (syndactyly), and some have extra OMIM 270400
fingers or toes (polydactyly). db key
html:p The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly Orphanet 818
affected individuals may have only minor physical abnormalities with learning db key
and behavioral problems. Severe cases can be life-threatening and involve SNOMED CT 43929004
profound intellectual disability and major physical abnormalities.
related-gene-list
Smith-Magenis syndrome https://ghr.nlm.nih.gov/condition/smith-magenis-syndrome Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. html:p Smith-Magenis syndrome is a developmental disorder that affects many parts of n not inherited RAI1 https://ghr.nlm.nih.gov/gene/RAI1 17p- syndrome db key 2017-10 2017-12-29
史密斯-馬吉利氏症候群 However, researchers believe that many people with this condition are not the body. The major features of this condition include mild to moderate related-chromosome name ghr-page 17p11.2 monosomy GTR C0795864
diagnosed, so the true prevalence may be closer to 1 in 15,000 individuals. intellectual disability, delayed speech and language skills, distinctive facial 17 https://ghr.nlm.nih.gov/chromosome/17 chromosome 17p deletion syndrome db key
features, sleep disturbances, and behavioral problems. deletion 17p syndrome GeneReviews sms
html:p Most people with Smith-Magenis syndrome have a broad, square-shaped face with partial monosomy 17p db key
deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face SMS MeSH D058496
and the bridge of the nose often appear flattened. The mouth tends to turn db key
downward with a full, outward-curving upper lip. These facial differences can be OMIM 182290
subtle in early childhood, but they usually become more distinctive in later db key
childhood and adulthood. Dental abnormalities are also common in affected Orphanet 819
individuals. db key
html:p Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically SNOMED CT 401315004
beginning early in life. Affected people may be very sleepy during the day, but
they have trouble falling asleep at night and awaken several times during the
night and early morning.
html:p People with Smith-Magenis syndrome typically have affectionate, engaging
personalities, but most also have behavioral problems. These include frequent
temper tantrums and outbursts, aggression, anxiety, impulsiveness, and
difficulty paying attention. Self-injury, including biting, hitting, head
banging, and skin picking, is very common. Repetitive self-hugging is a
behavioral trait that may be unique to Smith-Magenis syndrome. Some people with
this condition also compulsively lick their fingers and flip pages of books and
magazines (a behavior known as "lick and flip").
html:p Other signs and symptoms of Smith-Magenis syndrome include short stature,
abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and
temperature, and a hoarse voice. Some people with this disorder have ear
abnormalities that lead to hearing loss. Affected individuals may have eye
abnormalities that cause nearsightedness (myopia) and other vision problems.
Although less common, heart and kidney defects also have been reported in people
with Smith-Magenis syndrome.
related-gene-list
Snyder-Robinson syndrome https://ghr.nlm.nih.gov/condition/snyder-robinson-syndrome Snyder-Robinson syndrome is a rare condition; its prevalence is unknown. html:p Snyder-Robinson syndrome is a condition characterized by intellectual xr X-linked recessive SMS https://ghr.nlm.nih.gov/gene/SMS mental retardation, X-linked, syndromic, Snyder-Robinson type db key 2016-11 2017-12-29
斯奈德 - 羅賓遜綜合症 About 10 affected families have been identified worldwide. disability, muscle and bone abnormalities, and other problems with development. Snyder-Robinson X-linked mental retardation syndrome GTR C0796160
It occurs exclusively in males. spermine synthase deficiency db key
html:p Males with Snyder-Robinson syndrome have delayed development and intellectual SRS GeneReviews snyder-robinson
disability beginning in early childhood. The intellectual disability can range db key
from mild to profound. Speech often develops late, and speech difficulties are MeSH D002658
common. Some affected individuals never develop any speech. db key
html:p Most affected males are thin and have low muscle mass, a body type described as MeSH D038901
an asthenic habitus. Weakness or "floppiness" (hypotonia) typically becomes db key
apparent in infancy, and the loss of muscle tissue continues with age. People OMIM 309583
with this condition often have difficulty walking; most have an unsteady gait. db key
html:p Snyder-Robinson syndrome causes skeletal problems, particularly thinning of the Orphanet 3063
bones (osteoporosis) that starts in early childhood. Osteoporosis causes the db key
bones to be brittle and to break easily, often during normal activities. In SNOMED CT 702416008
people with Snyder-Robinson syndrome, broken bones occur most often in the arms
and legs. Most affected individuals also develop an abnormal side-to-side and
back-to-front curvature of the spine (scoliosis and kyphosis, often called
kyphoscoliosis when they occur together). Affected individuals tend to be
shorter than their peers and others in their family.
html:p Snyder-Robinson syndrome is associated with distinctive facial features,
including a prominent lower lip; a high, narrow roof of the mouth or an opening
in the roof of the mouth (a cleft palate); and differences in the size and shape
of the right and left sides of the face (facial asymmetry). Other signs and
symptoms that have been reported include seizures that begin in childhood and
abnormalities of the genitalia and kidneys.
inheritance-pattern-list related-gene-list
SOST-related sclerosing bone dysplasia https://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia SOST-related sclerosing bone dysplasia is a rare condition; its exact html:p html:i ar autosomal recessive SOST synonym db-key db key 2009-06 2017-12-29
SOST相關的硬化性骨發育不良 prevalence is unknown.Approximately 100 individuals with sclerosteosis have been SOST synonym GTR C0265301
reported in the scientific literature. Sclerosteosis is most common in the synonym db-key db key
Afrikaner population of South Africa.Van Buchem disease has been reported in synonym GTR C0432272
approximately 30 people. Most people with van Buchem disease are of Dutch synonym db-key db key
ancestry. synonym GeneReviews sost
db-key db key
MeSH D015576
db-key db key
OMIM 239100
db-key db key
OMIM 269500
html:p Abnormal bone growth can pinch (compress) the cranial nerves, which emerge from db-key db key
the brain and extend to various areas of the head and neck. Compression of the Orphanet 3152
cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), db-key db key
hearing loss, vision loss, and a sense of smell that is diminished (hyposmia) or Orphanet 3416
completely absent (anosmia). Abnormal bone growth can cause life-threatening db-key db key
complications if it compresses the part of the brain that is connected to the SNOMED CT 17568006
spinal cord (the brainstem). db-key db key
html:p html:i SNOMED CT 59763006
SOST
html:p Sclerosteosis is the more severe form of the disorder. People with
sclerosteosis are often tall and have webbed or fused fingers (syndactyly), most
often involving the second and third fingers. The syndactyly is present from
birth, while the skeletal features typically appear in early childhood. People
with sclerosteosis may also have absent or malformed nails.
html:p Van Buchem disease represents the milder form of the disorder. People with van
Buchem disease are typically of average height and do not have syndactyly or
nail abnormalities. Affected individuals tend to have less severe cranial nerve
compression, resulting in milder neurological features. In people with van
Buchem disease, the skeletal features typically appear in childhood or
adolescence.
related-gene-list
Sotos syndrome https://ghr.nlm.nih.gov/condition/sotos-syndrome Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. html:p Sotos syndrome is a disorder characterized by a distinctive facial appearance, ad autosomal dominant NSD1 https://ghr.nlm.nih.gov/gene/NSD1 cerebral gigantism db key 2015-02 2017-12-29
Sotos 症候群 Because many of the features of Sotos syndrome can be attributed to other overgrowth in childhood, and learning disabilities or delayed development of Sotos sequence GTR C0175695
索托斯綜合症 conditions, many cases of this disorder are likely not properly diagnosed, so mental and movement abilities. Characteristic facial features include a long, Sotos' syndrome db key
cerebral gigantism the true incidence may be closer to 1 in 5,000. narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed GeneReviews sotos
大腦巨大症 chin. In addition, the outside corners of the eyes may point downward db key
(down-slanting palpebral fissures). This facial appearance is most notable in ICD-10-CM E22.0
early childhood. Affected infants and children tend to grow quickly; they are db key
significantly taller than their siblings and peers and have an unusually large MeSH D058495
head. However, adult height is usually in the normal range. db key
html:p People with Sotos syndrome often have intellectual disability, and most also OMIM 117550
have behavioral problems. Frequent behavioral issues include attention deficit db key
hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums, Orphanet 821
and impulsive behaviors. Problems with speech and language are also common. db key
Affected individuals often have a stutter, a monotone voice, and problems with SNOMED CT 75968004
sound production. Additionally, weak muscle tone (hypotonia) may delay other
aspects of early development, particularly motor skills such as sitting and
crawling.
html:p Other signs and symptoms of Sotos syndrome can include an abnormal side-to-side
curvature of the spine (scoliosis), seizures, heart or kidney defects, hearing
loss, and problems with vision. Some infants with this disorder experience
yellowing of the skin and whites of the eyes (jaundice) and poor feeding.
html:p A small percentage of people with Sotos syndrome have developed cancer, most
often in childhood, but no single form of cancer occurs most frequently with
this condition. It remains uncertain whether Sotos syndrome increases the risk
of specific types of cancer. If people with this disorder have an increased
cancer risk, it is only slightly greater than that of the general population.
inheritance-pattern-list related-gene-list
SOX2 anophthalmia syndrome https://ghr.nlm.nih.gov/condition/sox2-anophthalmia-syndrome SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. html:p html:i ad autosomal dominant ghr-page AEG syndrome db-key db key 2009-03 2017-12-29
SOX2眼球缺乏綜合症 About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 https://ghr.nlm.nih.gov/gene/SOX2 Anophthalmia-esophageal-genital syndrome GTR C1859773
(Vision) SOX2 anophthalmia syndrome. html:p html:i SOX2-related eye disorders db-key db key
SOX2 syndromic microphthalmia 3 GeneReviews sox2
db-key db key
MeSH D000853
db-key db key
anophthalmia syndrome, one eye may be more affected than the other. OMIM 206900
db-key db key
html:p html:i SNOMED CT 698851003
SOX2
related-gene-list
Spastic paraplegia type 11 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-11 Over 100 cases of spastic paraplegia type 11 have been reported. Although html:p Spastic paraplegia type 11 is part of a group of genetic disorders known as ar autosomal recessive SPG11 https://ghr.nlm.nih.gov/gene/SPG11 autosomal recessive spastic paraplegia complicated with thin corpus callosum db key 2009-04 2017-12-29
痙攣性下半身麻痺第11型 this condition is thought to be rare, its exact prevalence is unknown. hereditary spastic paraplegias. These disorders are characterized by progressive autosomal recessive spastic paraplegia with mental impairment and thin corpus GTR C1858479
muscle stiffness (spasticity) and the development of paralysis of the lower callosum db key
limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: HSP-TCC GeneReviews spg11
pure and complex. The pure types involve the lower limbs. The complex types SPG11-related hereditary spastic paraplegia with thin corpus callosum db key
involve the lower limbs and can affect the upper limbs to a lesser degree. ICD-10-CM G11.4
Complex spastic paraplegias also affect the structure or functioning of the db key
brain and the peripheral nervous system, which consists of nerves connecting the MeSH D010264
brain and spinal cord to muscles and sensory cells that detect sensations such db key
as touch, pain, heat, and sound. Spastic paraplegia type 11 is a complex MeSH D015419
hereditary spastic paraplegia. db key
html:p Like all hereditary spastic paraplegias, spastic paraplegia type 11 involves OMIM 604360
spasticity of the leg muscles and muscle weakness. In almost all individuals db key
with this type of spastic paraplegia, the tissue connecting the left and right Orphanet 685
halves of the brain (corpus callosum) is abnormally thin. People with this form db key
of spastic paraplegia can also experience numbness, tingling, or pain in the SNOMED CT 715491000
arms and legs (sensory neuropathy); disturbance in the nerves used for muscle
movement (motor neuropathy); intellectual disability; exaggerated reflexes
(hyperreflexia) of the lower limbs; speech difficulties (dysarthria); reduced
bladder control; and muscle wasting (amyotrophy). Less common features include
difficulty swallowing (dysphagia), high-arched feet (pes cavus), an abnormal
curvature of the spine (scoliosis), and involuntary movements of the eyes
(nystagmus). The onset of symptoms varies greatly; however, abnormalities in
muscle tone and difficulty walking usually become noticeable in adolescence.
html:p Many features of spastic paraplegia type 11 are progressive. Most people
experience a decline in intellectual ability and an increase in muscle weakness
and nerve abnormalities over time. As the condition progresses, some people
require wheelchair assistance.
related-gene-list
Spastic paraplegia type 15 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-15 Spastic paraplegia type 15 is a rare condition, although its exact html:p Spastic paraplegia type 15 is part of a group of genetic disorders known as ar autosomal recessive ZFYVE26 https://ghr.nlm.nih.gov/gene/ZFYVE26 autosomal recessive spastic paraplegia 15 db key 2014-04 2017-12-29
痙攣性下半身麻痺第15型 prevalence is unknown. hereditary spastic paraplegias. These disorders are characterized by progressive Kjellin syndrome GTR C1849128
muscle stiffness (spasticity) and the development of paralysis of the lower spastic paraplegia and retinal degeneration db key
limbs (paraplegia). Spastic paraplegia type 15 is classified as a complex SPG15 GeneReviews hsp
hereditary spastic paraplegia because it involves all four limbs as well as db key
additional features, including abnormalities of the brain. In addition to the ICD-10-CM G11.4
muscles and brain, spastic paraplegia type 15 affects the peripheral nervous db key
system, which consists of nerves connecting the brain and spinal cord to muscles MeSH D015419
and sensory cells that detect sensations such as touch, pain, heat, and sound. db key
html:p Spastic paraplegia type 15 usually becomes apparent in childhood or adolescence OMIM 270700
with the development of weak muscle tone (hypotonia), difficulty walking, or db key
intellectual disability. In almost all affected individuals, the tissue Orphanet 685
connecting the left and right halves of the brain (corpus callosum) is db key
abnormally thin and becomes thinner over time. Additionally, there is often a SNOMED CT 709417000
loss (atrophy) of nerve cells in several parts of the brain, including the
cerebral cortex, which controls thinking and emotions, and the cerebellum, which
coordinates movement.
html:p People with this form of spastic paraplegia can have numbness, tingling, or pain
in the arms and legs (sensory neuropathy); impairment of the nerves used for
muscle movement (motor neuropathy); exaggerated reflexes (hyperreflexia) of the
lower limbs; muscle wasting (amyotrophy); or reduced bladder control. Rarely,
spastic paraplegia type 15 is associated with a group of movement abnormalities
called parkinsonism, which includes tremors, rigidity, and unusually slow
movement (bradykinesia). People with spastic paraplegia type 15 may have an eye
condition called pigmentary maculopathy that often impairs vision. This
condition results from the breakdown (degeneration) of tissue at the back of the
eye called the macula, which is responsible for sharp central vision.
html:p Most people with spastic paraplegia type 15 experience a decline in intellectual
ability and an increase in muscle weakness and nerve abnormalities over time.
As the condition progresses, many people require walking aids or wheelchair
assistance in adulthood.
related-gene-list
Spastic paraplegia type 2 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-2 The prevalence of all hereditary spastic paraplegias combined is estimated html:p Spastic paraplegia type 2 is part of a group of genetic disorders known as xr X-linked recessive PLP1 https://ghr.nlm.nih.gov/gene/PLP1 Hereditary X-linked Recessive Spastic Paraplegia db key 2008-03 2017-12-29
痙攣性下半身麻痺第二型 to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 2 likely hereditary spastic paraplegias. These disorders are characterized by progressive spastic paraplegia 2 GTR C1839264
accounts for only a small percentage of all spastic paraplegia cases. muscle stiffness (spasticity) and the development of paralysis of the lower X linked Recessive Hereditary Spastic Paraplegia db key
limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: GeneReviews hsp
pure and complex. The pure types involve the lower limbs. The complex types db key
involve the lower limbs and can also affect the upper limbs to a lesser degree; GeneReviews pmd
the structure or functioning of the brain; and the nerves connecting the brain db key
and spinal cord to muscles and sensory cells that detect sensations such as ICD-10-CM G11.4
touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia db key
type 2 can occur in either the pure or complex form. MeSH D010264
html:p People with the pure form of spastic paraplegia type 2 experience spasticity in db key
the lower limbs, usually without any additional features. People with the MeSH D015419
complex form of spastic paraplegia type 2 have lower limb spasticity and can db key
also experience problems with movement and balance (ataxia); involuntary OMIM 312920
movements of the eyes (nystagmus); mild intellectual disability; involuntary, db key
rhythmic shaking (tremor); and degeneration (atrophy) of the optic nerves, which Orphanet 685
carry information from the eyes to the brain. Symptoms usually become apparent db key
between the ages of 1 and 5 years; those affected are typically able to walk Orphanet 99015
and have a normal lifespan. db key
SNOMED CT 230260007
db key
SNOMED CT 230261006
db key
related-gene-list SNOMED CT 39912006
Spastic paraplegia type 31 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-31 Spastic paraplegia type 31 is one of a subgroup of hereditary spastic html:p Spastic paraplegia type 31 is one of a group of genetic disorders known as ad autosomal dominant REEP1 https://ghr.nlm.nih.gov/gene/REEP1 autosomal dominant spastic paraplegia 31 db key 2015-04 2017-12-29
痙攣性下半身麻痺第31型 paraplegias known as autosomal dominant hereditary spastic paraplegia, which has hereditary spastic paraplegias. These disorders are characterized by progressive spastic paraplegia 31 GTR C1853247
an estimated prevalence of one to 12 per 100,000 individuals. Spastic muscle stiffness (spasticity) and the development of paralysis of the lower SPG31 db key
paraplegia type 31 accounts for 3 to 9 percent of all autosomal dominant limbs (paraplegia) caused by degeneration of nerve cells (neurons) that trigger GeneReviews hsp
hereditary spastic paraplegia cases. muscle movement. Hereditary spastic paraplegias are divided into two types: pure db key
and complicated. The pure types involve only the lower limbs, while the ICD-10-CM G11.4
complicated types also involve the upper limbs and other areas of the body, db key
including the brain. Spastic paraplegia type 31 is usually a pure hereditary MeSH D015419
spastic paraplegia, although a few complicated cases have been reported. db key
html:p The first signs and symptoms of spastic paraplegia type 31 usually appear before OMIM 610250
age 20 or after age 30. An early feature is difficulty walking due to db key
spasticity and weakness, which typically affect both legs equally. People with Orphanet 685
spastic paraplegia type 31 can also experience progressive muscle wasting db key
(amyotrophy) in the lower limbs, exaggerated reflexes (hyperreflexia), a Orphanet 101011
decreased ability to feel vibrations, reduced bladder control, and high-arched db key
feet (pes cavus). As the condition progresses, some individuals require walking SNOMED CT 230260007
support.
related-gene-list
Spastic paraplegia type 3A https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-3a Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic html:p Spastic paraplegia type 3A is one of a group of genetic disorders known as ad autosomal dominant ATL1 https://ghr.nlm.nih.gov/gene/ATL1 spastic paraplegia 3 db key 2015-03 2017-12-29
痙攣性下半身麻痺第3A型 paraplegias known as autosomal dominant hereditary spastic paraplegia, which has hereditary spastic paraplegias. These disorders are characterized by muscle spastic paraplegia 3A GTR C2931355
an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia stiffness (spasticity) and weakness in the lower limbs (paraplegia). Hereditary SPG3A db key
type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraplegias are often divided into two types: pure and complex. The pure GeneReviews hsp
spastic paraplegia cases. types involve only the lower limbs, while the complex types also involve other db key
areas of the body; additional features can include changes in vision, changes in GeneReviews spg3a
intellectual functioning, difficulty walking, and disturbances in nerve db key
function (neuropathy). Spastic paraplegia type 3A is usually a pure hereditary ICD-10-CM G11.4
spastic paraplegia, although a few complex cases have been reported. db key
html:p In addition to spasticity and weakness, which typically affect both legs MeSH D015419
equally, people with spastic paraplegia type 3A can also experience progressive db key
muscle wasting (amyotrophy) in the lower limbs, reduced bladder control, an OMIM 182600
abnormal curvature of the spine (scoliosis), loss of sensation in the feet db key
(peripheral neuropathy), or high arches of the feet (pes cavus). The signs and Orphanet 685
symptoms of spastic paraplegia type 3A usually appear before the age of 10; the db key
average age of onset is 4 years. In some affected individuals the condition SNOMED CT 39912006
slowly worsens over time, sometimes leading to a need for walking support.
related-gene-list
Spastic paraplegia type 4 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-4 The prevalence of spastic paraplegia type 4 is estimated to be 2 to 6 in html:p Spastic paraplegia type 4 is part of a group of genetic disorders known as ad autosomal dominant SPAST https://ghr.nlm.nih.gov/gene/SPAST spastic paraplegia 4 db key 2008-01 2017-12-29
痙攣性下半身麻痺第4型 100,000 people worldwide. hereditary spastic paraplegias. These disorders are characterized by progressive SPG4 GTR C1866855
muscle stiffness (spasticity) and the development of paralysis of the lower db key
limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: GeneReviews hsp
pure and complex. The pure types involve only the lower limbs, whereas the db key
complex types also involve the upper limbs (to a lesser degree) and the nervous GeneReviews spg4
system. Spastic paraplegia type 4 is a pure hereditary spastic paraplegia. db key
html:p Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves ICD-10-CM G11.4
spasticity of the leg muscles and muscle weakness. People with this condition db key
can also experience exaggerated reflexes (hyperreflexia), ankle spasms, MeSH D010264
high-arched feet (pes cavus), and reduced bladder control. Spastic paraplegia db key
type 4 generally affects nerve and muscle function in the lower half of the body MeSH D015419
only. db key
OMIM 182601
db key
Orphanet 685
db key
related-gene-list SNOMED CT 230260007
Spastic paraplegia type 5A https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-5a Spastic paraplegia type 5A is a rare condition. Its prevalence is unknown. html:p Spastic paraplegia type 5A is one of a group of genetic disorders known as ar autosomal recessive CYP7B1 https://ghr.nlm.nih.gov/gene/CYP7B1 autosomal recessive spastic paraplegia 5A db key 2017-09 2017-12-29
痙攣性下半身麻痺第5A型 hereditary spastic paraplegias. These disorders are characterized by muscle spastic paraplegia 5A GTR C1849115
stiffness (spasticity) and severe weakness in the lower limbs (paraplegia). SPG5A db key
Hereditary spastic paraplegias are often divided into two types: pure and GeneReviews hsp
complex. The pure types involve spasticity and weakness only in the lower limbs, db key
while the complex types involve additional problems with other areas of the ICD-10-CM G11.4
body; additional features can include changes in vision, changes in intellectual db key
functioning, brain abnormalities, and disturbances in nerve function MeSH D015419
(neuropathy). Spastic paraplegia type 5A is usually a pure hereditary spastic db key
paraplegia, although complex type features have been reported in some OMIM 270800
individuals, usually in those who have had the condition for many years. db key
html:p In addition to spasticity and weakness, people with spastic paraplegia type 5A Orphanet 100986
can lose the ability to sense the position of their limbs or detect vibrations db key
with their lower limbs. They may also have muscle wasting (amyotrophy), reduced SNOMED CT 39912006
bladder control, or high arches of the feet (pes cavus). The signs and symptoms
of spastic paraplegia type 5A usually appear in adolescence but can begin at any
time between infancy and mid-adulthood. The condition slowly worsens over time,
often leading affected individuals to require walking support or wheelchair
assistance.
related-gene-list
Spastic paraplegia type 7 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-7 The prevalence of all hereditary spastic paraplegias combined is estimated html:p Spastic paraplegia type 7 is part of a group of genetic disorders known as ar autosomal recessive SPG7 https://ghr.nlm.nih.gov/gene/SPG7 Autosomal Recessive Hereditary Spastic Paraplegia db key 2008-01 2017-12-29
痙攣性下半身麻痺第7型 to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 7 likely hereditary spastic paraplegias. These disorders are characterized by progressive Hereditary Spastic Paraplegia GTR C1846564
accounts for only a small percentage of all spastic paraplegia cases. muscle stiffness (spasticity) and the development of paralysis of the lower hereditary spastic paraplegia, paraplegin type db key
limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: spastic paraplegia 7 GeneReviews hsp
pure and complex. The pure types involve the lower limbs. The complex types db key
involve the lower limbs and can also affect the upper limbs to a lesser degree; GeneReviews spg7
the structure or functioning of the brain; and the nerves connecting the brain db key
and spinal cord to muscles and sensory cells that detect sensations such as ICD-10-CM G11.4
touch, pain, heat, and sound (the peripheral nervous system). Spastic db key
paraplegia type 7 can occur in either the pure or complex form. MeSH D010264
html:p Like all hereditary spastic paraplegias, spastic paraplegia type 7 involves db key
spasticity of the leg muscles and increased muscle weakness. People with this MeSH D015419
form of spastic paraplegia can also experience exaggerated reflexes db key
(hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty OMIM 607259
swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild db key
hearing loss; abnormal curvature of the spine (scoliosis); high-arched feet (pes Orphanet 685
cavus); numbness, tingling, or pain in the arms and legs (sensory neuropathy); db key
disturbance in the nerves used for muscle movement (motor neuropathy); and Orphanet 99013
muscle wasting (amyotrophy). The onset of symptoms varies greatly among those db key
with spastic paraplegia type 7; however, abnormalities in muscle tone and other SNOMED CT 715776003
features are usually noticeable in adulthood.
related-gene-list
Spastic paraplegia type 8 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-8 The prevalence of all hereditary spastic paraplegias combined is estimated html:p Spastic paraplegia type 8 is part of a group of genetic disorders known as ad autosomal dominant WASHC5 https://ghr.nlm.nih.gov/gene/WASHC5 autosomal dominant spastic paraplegia 8 db key 2009-03 2017-12-29
痙攣性下半身麻痺第8型 to be 1 to 18 in 100,000 people worldwide. Spastic paraplegia type 8 likely hereditary spastic paraplegias. These disorders are characterized by progressive hereditary spastic paraplegia 8 GTR C1863704
accounts for only a small percentage of all spastic paraplegia cases. muscle stiffness (spasticity) and the development of paralysis of the lower spastic paraplegia 8 db key
limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: SPG 8 GeneReviews spg8
pure and complex. The pure types involve only the nerves and muscles controlling db key
the lower limbs and bladder, whereas the complex types also have significant ICD-10-CM G11.4
involvement of the nervous system in other parts of the body. Spastic paraplegia db key
type 8 is a pure hereditary spastic paraplegia. MeSH D010264
html:p Like all hereditary spastic paraplegias, spastic paraplegia type 8 involves db key
spasticity of the leg muscles and muscle weakness. People with this condition MeSH D015419
can also experience exaggerated reflexes (hyperreflexia), a decreased ability to db key
feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. The OMIM 603563
signs and symptoms of spastic paraplegia type 8 usually appear in early to db key
mid-adulthood. As the muscle weakness and spasticity get worse, some people may Orphanet 685
need the aid of a cane, walker, or wheelchair. db key
Spheroid Body Myopathy
球狀肌肉體病變
related-gene-list SNOMED CT 230260007
Spina bifida https://ghr.nlm.nih.gov/condition/spina-bifida Spina bifida is one of the most common types of neural tube defect, html:p Spina bifida is a condition in which the neural tube, a layer of cells that u pattern unknown MTHFR https://ghr.nlm.nih.gov/gene/MTHFR cleft spine db key 2014-11 2017-12-29
脊柱裂 affecting an estimated 1 in 2,500 newborns worldwide. For unknown reasons, the ultimately develops into the brain and spinal cord, fails to close completely open spine GTR C0027794
prevalence of spina bifida varies among different geographic regions and ethnic during the first few weeks of embryonic development. As a result, when the spine rachischisis db key
groups. In the United States, this condition occurs more frequently in Hispanics forms, the bones of the spinal column do not close completely around the spinal dysraphism GTR C1866558
and non-Hispanic whites than in African Americans. developing nerves of the spinal cord. Part of the spinal cord may stick out db key
through an opening in the spine, leading to permanent nerve damage. Because ICD-10-CM Q05
spina bifida is caused by abnormalities of the neural tube, it is classified as db key
a neural tube defect. ICD-10-CM Q05.0
html:p Children born with spina bifida often have a fluid-filled sac on their back that db key
is covered by skin, called a meningocele. If the sac contains part of the ICD-10-CM Q05.1
spinal cord and its protective covering, it is known as a myelomeningocele. The db key
signs and symptoms of these abnormalities range from mild to severe, depending ICD-10-CM Q05.2
on where the opening in the spinal column is located and how much of the spinal db key
cord is affected. Related problems can include a loss of feeling below the level ICD-10-CM Q05.3
of the opening, weakness or paralysis of the feet or legs, and problems with db key
bladder and bowel control. Some affected individuals have additional ICD-10-CM Q05.4
complications, including a buildup of excess fluid around the brain db key
(hydrocephalus) and learning problems. With surgery and other forms of ICD-10-CM Q05.5
treatment, many people with spina bifida live into adulthood. db key
html:p In a milder form of the condition, called spina bifida occulta, the bones of the ICD-10-CM Q05.6
spinal column are abnormally formed, but the nerves of the spinal cord usually db key
develop normally. Unlike in the more severe form of spina bifida, the nerves do ICD-10-CM Q05.7
not stick out through an opening in the spine. Spina bifida occulta most often db key
causes no health problems, although rarely it can cause back pain or changes in ICD-10-CM Q05.8
bladder function. db key
ICD-10-CM Q05.9
db key
ICD-10-CM Q07.01
db key
ICD-10-CM Q07.03
db key
ICD-10-CM Q76.0
db key
MeSH D016135
db key
OMIM 182940
db key
OMIM 601634
db key
Orphanet 823
db key
SNOMED CT 61819007
db key
related-gene-list SNOMED CT 67531005
Spinal and bulbar muscular atrophy https://ghr.nlm.nih.gov/condition/spinal-and-bulbar-muscular-atrophy This condition affects fewer than 1 in 150,000 males and is very rare in html:p Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder xr X-linked recessive AR https://ghr.nlm.nih.gov/gene/AR bulbospinal muscular atrophy, X-linked db key 2012-12 2017-12-29
脊髓延髓性肌肉萎縮症 females. of specialized nerve cells that control muscle movement (motor neurons). These KD GTR C1839259
Kennedy's disease nerve cells originate in the spinal cord and the part of the brain that is Kennedy disease db key
甘迺迪氏症 connected to the spinal cord (the brainstem). Kennedy spinal and bulbar muscular atrophy GeneReviews kennedy
html:p Spinal and bulbar muscular atrophy mainly affects males and is characterized by Kennedy's disease db key
muscle weakness and wasting (atrophy) that usually begins in adulthood and SBMA MeSH D055534
worsens slowly over time. Muscle wasting in the arms and legs results in X-linked spinal and bulbar muscular atrophy db key
cramping; leg muscle weakness can also lead to difficulty walking and a tendency OMIM 313200
to fall. Certain muscles in the face and throat (bulbar muscles) are also db key
affected, which causes progressive problems with swallowing and speech. Orphanet 481
Additionally, muscle twitches (fasciculations) are common. Some males with the db key
disorder experience unusual breast development (gynecomastia) and may be unable SNOMED CT 230253001
to father a child (infertile).
Spinal muscular atrophy, SMA
運動神經元/脊髓性肌肉萎縮
related-gene-list
Spinal muscular atrophy with progressive myoclonic epilepsy, SMA https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people. html:p Spinal muscular atrophy is a genetic disorder that affects the control of muscle ar autosomal recessive DYNC1H1 https://ghr.nlm.nih.gov/gene/DYNC1H1 hereditary motor neuronopathy db key 2013-01 2017-12-29
脊髓性肌萎縮伴進行性肌陣攣性癲癇 movement. It is caused by a loss of specialized nerve cells, called motor related-gene gene-symbol ghr-page progressive muscular atrophy GTR C0043116
neurons, in the spinal cord and the part of the brain that is connected to the SMN1 https://ghr.nlm.nih.gov/gene/SMN1 SMA db key
spinal cord (the brainstem). The loss of motor neurons leads to weakness and related-gene gene-symbol ghr-page spinal amyotrophy GTR C0152109
wasting (atrophy) of muscles used for activities such as crawling, walking, SMN2 https://ghr.nlm.nih.gov/gene/SMN2 db key
sitting up, and controlling head movement. In severe cases of spinal muscular related-gene gene-symbol ghr-page GTR C0393538
atrophy, the muscles used for breathing and swallowing are affected. There are UBA1 https://ghr.nlm.nih.gov/gene/UBA1 db key
many types of spinal muscular atrophy distinguished by the pattern of features, related-gene gene-symbol ghr-page GTR C1834690
severity of muscle weakness, and age when the muscle problems begin. VAPB https://ghr.nlm.nih.gov/gene/VAPB db key
html:p Type I spinal muscular atrophy (also called Werdnig-Hoffman disease) is a severe GTR C1838230
form of the disorder that is evident at birth or within the first few months of db key
life. Affected infants are developmentally delayed; most are unable to support GTR C1844934
their head or sit unassisted. Children with this type have breathing and db key
swallowing problems that may lead to choking or gagging. GTR C1866777
html:p Type II spinal muscular atrophy is characterized by muscle weakness that db key
develops in children between ages 6 and 12 months. Children with type II can sit GeneReviews sma
without support, although they may need help getting to a seated position. db key
Individuals with this type of spinal muscular atrophy cannot stand or walk GeneReviews sma-xli
unaided. db key
html:p Type III spinal muscular atrophy (also called Kugelberg-Welander disease or ICD-10-CM G12.0
juvenile type) has milder features that typically develop between early db key
childhood and adolescence. Individuals with type III spinal muscular atrophy can ICD-10-CM G12.1
stand and walk unaided, but walking and climbing stairs may become increasingly db key
difficult. Many affected individuals will require wheelchair assistance later MeSH D009134
in life. db key
html:p The signs and symptoms of type IV spinal muscular atrophy often occur after age OMIM 158600
30. Affected individuals usually experience mild to moderate muscle weakness, db key
tremor, twitching, or mild breathing problems. Typically, only muscles close to OMIM 182980
the center of the body (proximal muscles), such as the upper arms and legs, are db key
affected in type IV spinal muscular atrophy. OMIM 253300
html:p The features of X-linked spinal muscular atrophy appear in infancy and include db key
severe muscle weakness and difficulty breathing. Children with this type often OMIM 253400
have joint deformities (contractures) that impair movement. In severe cases, db key
affected infants are born with broken bones. Poor muscle tone before birth may OMIM 253550
contribute to the contractures and broken bones seen in these children. db key
html:p Spinal muscular atrophy, lower extremity, dominant (SMA-LED) is characterized by OMIM 271150
leg muscle weakness that is most severe in the thigh muscles (quadriceps). This db key
weakness begins in infancy or early childhood and progresses slowly. Affected OMIM 301830
individuals often have a waddling or unsteady walk and have difficulty rising db key
from a seated position and climbing stairs. Orphanet 70
html:p An adult-onset form of spinal muscular atrophy that begins in early to db key
mid-adulthood affects the proximal muscles and is characterized by muscle SNOMED CT 128212001
cramping of the limbs and abdomen, weakness in the leg muscles, involuntary db key
muscle contractions, tremors, and a protrusion of the abdomen thought to be SNOMED CT 5262007
related to muscle weakness. Some affected individuals experience difficulty db key
swallowing and problems with bladder and bowel function. SNOMED CT 54280009
db key
SNOMED CT 64383006
db key
related-gene-list SNOMED CT 85505000
Spinal muscular atrophy with progressive myoclonic epilepsy https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myocl SMA-PME is a rare disorder; approximately a dozen affected families have html:p Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a ar autosomal recessive ASAH1 https://ghr.nlm.nih.gov/gene/ASAH1 hereditary myoclonus with progressive distal muscular atrophy db key 2013-12 2017-12-29
脊髓性肌萎縮伴進行性肌陣攣性癲癇 onic-epilepsy been described in the scientific literature. neurological condition that causes muscle weakness and wasting (atrophy) and a Jankovic-Rivera syndrome GTR C1834569
combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy). SMA-PME db key
html:p In individuals with SMA-PME, spinal muscular atrophy results from a loss of SMAPME MeSH D009134
specialized nerve cells, called motor neurons, in the spinal cord and the part db key
of the brain that is connected to the spinal cord (the brainstem). After a few MeSH D020191
years of normal development, affected children begin experiencing muscle db key
weakness and atrophy in the lower limbs, causing difficulty walking and frequent OMIM 159950
falls. The muscles in the upper limbs are later affected, and soon the muscle db key
weakness and atrophy spreads throughout the body. Once weakness reaches the Orphanet 2590
muscles used for breathing and swallowing, it leads to life-threatening db key
breathing problems and increased susceptibility to pneumonia. SNOMED CT 703524005
html:p A few years after the muscle weakness begins, affected individuals start to
experience recurrent seizures (epilepsy). Most people with SMA-PME have a
variety of seizure types. In addition to myoclonic epilepsy, they may have
generalized tonic-clonic seizures (also known as grand mal seizures), which
cause muscle rigidity, convulsions, and loss of consciousness. Affected
individuals can also have absence seizures, which cause loss of consciousness
for a short period that may or may not be accompanied by muscle jerks. In
SMA-PME, seizures often increase in frequency over time and are usually not
well-controlled with medication. Individuals with SMA-PME may also have episodes
of rhythmic shaking (tremors), usually in the hands; these tremors are not
thought to be related to epilepsy.
html:p Some people with SMA-PME develop hearing loss caused by nerve damage in the
inner ear (sensorineural hearing loss).
html:p Individuals with SMA-PME have a shortened lifespan; they generally live into
late childhood or early adulthood. The cause of death is often respiratory
failure or pneumonia.
related-gene-list
Spinal muscular atrophy with respiratory distress type 1 https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-respiratory-distr SMARD1 appears to be a rare condition, but its prevalence is unknown. More html:p Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an ar autosomal recessive IGHMBP2 https://ghr.nlm.nih.gov/gene/IGHMBP2 autosomal recessive distal spinal muscular atrophy 1 db key 2013-01 2017-12-29
脊髓性肌萎縮症合併呼吸窘迫第一型 ess-type-1 than 60 cases have been reported in the scientific literature. inherited condition that causes muscle weakness and respiratory failure DHMN6 GTR C1858517
typically beginning in infancy. Early features of this condition are difficult diaphragmatic spinal muscular atrophy db key
and noisy breathing, especially when inhaling; a weak cry; problems feeding; and distal hereditary motor neuronopathy type VI MeSH D014897
recurrent episodes of pneumonia. Typically between the ages of 6 weeks and 6 distal spinal muscular atrophy type 1 db key
months, infants with this condition will experience a sudden inability to DSMA1 OMIM 604320
breathe due to paralysis of the muscle that separates the abdomen from the chest HMN6 db key
cavity (the diaphragm). Normally, the diaphragm contracts and moves downward HMNVI Orphanet 98920
during inhalation to allow the lungs to expand. With diaphragm paralysis, severe infantile axonal neuropathy with respiratory failure db key
affected individuals require life-long support with a machine to help them SIANRF SNOMED CT 711483003
breathe (mechanical ventilation). Rarely, children with SMARD1 develop signs or SMARD1
symptoms of the disorder later in childhood. spinal muscular atrophy with respiratory distress
html:p Soon after respiratory failure occurs, individuals with SMARD1 develop muscle
weakness in their distal muscles. These are the muscles farther from the center
of the body, such as muscles in the hands and feet. The weakness soon spreads to
all muscles; however, within 2 years, the muscle weakness typically stops
getting worse. Some individuals may retain a low level of muscle function, while
others lose all ability to move their muscles. Muscle weakness severely
impairs motor development, such as sitting, standing, and walking. Some affected
children develop an abnormal side-to-side and back-to-front curvature of the
spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur
together). After approximately the first year of life, individuals with SMARD1
may lose their deep tendon reflexes, such as the reflex being tested when a
doctor taps the knee with a hammer.
html:p Other features of SMARD1 can include reduced pain sensitivity, excessive
sweating (hyperhidrosis), loss of bladder and bowel control, and an irregular
heartbeat (arrhythmia).
related-gene-list
Spinocerebellar ataxia type 1, SCA https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-1 SCA1 affects 1 to 2 per 100,000 people worldwide. html:p Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive ad autosomal dominant ATXN1 https://ghr.nlm.nih.gov/gene/ATXN1 olivopontocerebellar atrophy I db key 2011-02 2017-12-29
脊髓小腦退化性動作協調障礙 problems with movement. People with this condition initially experience SCA1 GTR C0752120
脊髓小腦萎縮症第1型 problems with coordination and balance (ataxia). Other signs and symptoms of spinocerebellar atrophy I db key
SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), type 1 spinocerebellar ataxia GeneReviews sca1
and weakness in the muscles that control eye movement (ophthalmoplegia). Eye db key
muscle weakness leads to rapid, involuntary eye movements (nystagmus). MeSH D020754
Individuals with SCA1 may have difficulty processing, learning, and remembering db key
information (cognitive impairment). OMIM 164400
html:p Over time, individuals with SCA1 may develop numbness, tingling, or pain in the db key
arms and legs (sensory neuropathy); uncontrolled muscle tensing (dystonia); Orphanet 98755
muscle wasting (atrophy); and muscle twitches (fasciculations). Rarely, db key
rigidity, tremors, and involuntary jerking movements (chorea) have been reported SNOMED CT 715748006
in people who have been affected for many years.
html:p Signs and symptoms of the disorder typically begin in early adulthood but can
appear anytime from childhood to late adulthood. People with SCA1 typically
survive 10 to 20 years after symptoms first appear.
related-gene-list
Spinocerebellar ataxia type 2 https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2 The prevalence of SCA2 is unknown. This condition is estimated to be one of html:p Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive ad autosomal dominant ATXN2 https://ghr.nlm.nih.gov/gene/ATXN2 SCA2 db key 2011-02 2017-12-29
脊髓小腦退化性動作協調障礙2型 the most common types of spinocerebellar ataxia; however, all types of problems with movement. People with this condition initially experience GTR C0752121
spinocerebellar ataxia are relatively rare. SCA2 is more common in Cuba, problems with coordination and balance (ataxia). Other early signs and symptoms db key
particularly in the Holguín province, where approximately 40 per 100,000 of SCA2 include speech and swallowing difficulties, rigidity, tremors, and GeneReviews sca2
individuals are affected. weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle db key
weakness leads to a decreased ability to make rapid eye movements (saccadic MeSH D020754
slowing). db key
html:p Over time, individuals with SCA2 may develop loss of sensation and weakness in OMIM 183090
the limbs (peripheral neuropathy), muscle wasting (atrophy), uncontrolled muscle db key
tensing (dystonia), and involuntary jerking movements (chorea). Individuals SNOMED CT 715751004
with SCA2 may have problems with short term memory, planning, and problem
solving, or experience an overall decline in intellectual function (dementia).
html:p Signs and symptoms of the disorder typically begin in mid-adulthood but can
appear anytime from childhood to late adulthood. People with SCA2 usually
survive 10 to 20 years after symptoms first appear.
related-gene-list
Spinocerebellar ataxia type 3 https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 The prevalence of SCA3 is unknown. This condition is thought to be the most html:p Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive ad autosomal dominant ATXN3 https://ghr.nlm.nih.gov/gene/ATXN3 Azorean ataxia db key 2011-02 2017-12-29
脊髓小腦退化性動作協調障礙3型 common type of spinocerebellar ataxia; however, all types of spinocerebellar problems with movement. People with this condition initially experience Azorean disease GTR C0024408
ataxia are relatively rare. problems with coordination and balance (ataxia). Other early signs and symptoms Machado-Joseph disease db key
of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), MJD GeneReviews sca3
muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double SCA3 db key
vision. People with this condition may experience sleep disorders such as MeSH D017827
restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a db key
condition characterized by numbness or tingling in the legs accompanied by an OMIM 109150
urge to move the legs to stop the sensations. REM sleep behavior disorder is a db key
condition in which the muscles are active during the dream (REM) stage of sleep, SNOMED CT 91952008
so an affected person often acts out his or her dreams. These sleep disorders
tend to leave affected individuals feeling tired during the day.
html:p Over time, individuals with SCA3 may develop loss of sensation and weakness in
the limbs (peripheral neuropathy), muscle cramps, muscle twitches
(fasciculations), and swallowing difficulties. Individuals with SCA3 may have
problems with memory, planning, and problem solving.
html:p Signs and symptoms of the disorder typically begin in mid-adulthood but can
appear anytime from childhood to late adulthood. People with SCA3 eventually
require wheelchair assistance. They usually survive 10 to 20 years after
symptoms first appear.
related-gene-list
Spinocerebellar ataxia type 36 https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36 Approximately 100 individuals with SCA36 have been reported in the html:p Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by ad autosomal dominant NOP56 https://ghr.nlm.nih.gov/gene/NOP56 Asidan ataxia db key 2014-12 2017-12-29
脊髓小腦退化性動作協調障礙36型 scientific literature. Almost all of these individuals have been from two progressive problems with movement that typically begin in mid-adulthood. People Costa de Morte ataxia GTR C3472711
regions: western Japan and the Costa de Morte in Galicia, Spain. with this condition initially experience problems with coordination and balance SCA36 db key
(ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) spinocerebellar ataxia 36 GeneReviews sca36
and problems with speech (dysarthria). They also usually develop muscle twitches db key
(fasciculations) of the tongue and over time, the muscles in the tongue waste MeSH D020754
away (atrophy). These tongue problems can cause difficulties swallowing liquids. db key
As the condition progresses, individuals with SCA36 develop muscle atrophy in OMIM 614153
the legs, forearms, and hands. Another common feature of SCA36 is the atrophy of db key
specialized nerve cells that control muscle movement (motor neurons), which can Orphanet 276198
contribute to the tongue and limb muscle atrophy in affected individuals. db key
html:p Some people with SCA36 have abnormalities of the eye muscles, which can lead to SNOMED CT 711158005
involuntary eye movements (nystagmus), rapid eye movements (saccades), trouble
moving the eyes side-to-side (oculomotor apraxia), and droopy eyelids (ptosis).
Sensorineural hearing loss, which is hearing loss caused by changes in the inner
ear, may also occur in people with SCA36.
html:p Brain imaging of people with SCA36 shows progressive atrophy of various parts of
the brain, particularly within the cerebellum, which is the area of the brain
involved in coordinating movements. Over time, the loss of cells in the
cerebellum causes the movement problems characteristic of SCA36. In older
affected individuals, the frontal lobes of the brain may show atrophy resulting
in loss of executive function, which is the ability to plan and implement
actions and develop problem-solving strategies.
html:p Signs and symptoms of SCA36 typically begin in a person's forties or fifties but
can appear anytime during adulthood. People with SCA36 have a normal lifespan
and are usually mobile for 15 to 20 years after they are diagnosed.
related-gene-list
Spinocerebellar ataxia type 6 https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6 The worldwide prevalence of SCA6 is estimated to be less than 1 in 100,000 html:p Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive ad autosomal dominant CACNA1A https://ghr.nlm.nih.gov/gene/CACNA1A SCA6 db key 2011-02 2017-12-29
脊髓小腦退化性動作協調障礙6型 individuals. problems with movement. People with this condition initially experience type 6 spinocerebellar ataxia GTR C0752124
problems with coordination and balance (ataxia). Other early signs and symptoms db key
of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and GeneReviews sca6
double vision. Over time, individuals with SCA6 may develop loss of coordination db key
in their arms, tremors, and uncontrolled muscle tensing (dystonia). MeSH D020754
html:p Signs and symptoms of SCA6 typically begin in a person's forties or fifties but db key
can appear anytime from childhood to late adulthood. Most people with this OMIM 183086
disorder require wheelchair assistance by the time they are in their sixties. db key
Orphanet 98758
Split-Hand/Foot Malformation https://rarediseases.info.nih.gov/diseases/6319/split-hand-foot-malformation
Split-hand Split-foot malformation (SHFM)
裂手裂足症
db key
related-gene-list SNOMED CT 715752006
Spondylocarpotarsal synostosis syndrome https://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome Spondylocarpotarsal synostosis syndrome is a rare disorder; its prevalence html:p Spondylocarpotarsal synostosis syndrome is a disorder that affects the ad autosomal dominant FLNB https://ghr.nlm.nih.gov/gene/FLNB congenital scoliosis with unilateral unsegmented bar db key 2011-09 2017-12-29
is unknown. At least 25 affected individuals have been identified. development of bones throughout the body. Newborns with this disorder are of code memo congenital synspondylism GTR C1848934
approximately normal length, but impaired growth of the trunk results in short ar autosomal recessive SCT db key
stature over time. The bones of the spine (vertebrae) are misshapen and SCT syndrome GeneReviews flnb-dis
abnormally joined together (fused). The vertebral abnormalities may result in an spondylocarpotarsal syndrome db key
abnormally curved lower back (lordosis) and a spine that curves to the side vertebral fusion with carpal coalition MeSH D010009
(scoliosis). db key
html:p Affected individuals also have abnormalities of the wrist (carpal) and ankle OMIM 272460
(tarsal) bones and inward- and upward-turning feet (clubfeet). Characteristic db key
facial features include a round face, a large forehead (frontal bossing), and Orphanet 3275
nostrils that open to the front rather than downward (anteverted nares). db key
html:p Some people with spondylocarpotarsal synostosis syndrome have an opening in the SNOMED CT 702351004
roof of the mouth (a cleft palate), hearing loss, thin tooth enamel, flat feet,
or an unusually large range of joint movement (hypermobility). Individuals with
this disorder can survive into adulthood. Intelligence is generally unaffected,
although mild developmental delay has been reported in some affected
individuals.
related-gene-list
Spondylocostal dysostosis https://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis Spondylocostal dysostosis is a rare condition, although its exact html:p Spondylocostal dysostosis is a group of conditions characterized by abnormal ad autosomal dominant DLL3 https://ghr.nlm.nih.gov/gene/DLL3 Jarcho-Levin syndrome db key 2016-06 2017-12-29
脊椎骨質疏鬆症 prevalence is unknown. development of bones in the spine and ribs. The bones of the spine (vertebrae) code memo related-gene gene-symbol ghr-page SCDO GTR C0265343
are misshapen and abnormally joined together (fused). Many people with this ar autosomal recessive HES7 https://ghr.nlm.nih.gov/gene/HES7 db key
condition have abnormal side-to-side curvature of the spine (scoliosis) due to related-gene gene-symbol ghr-page GTR C1837549
malformation of the vertebrae. In addition to spinal abnormalities, some of the LFNG https://ghr.nlm.nih.gov/gene/LFNG db key
rib bones may be fused together or missing. Affected individuals have short, related-gene gene-symbol ghr-page GTR C1852521
rigid necks and short torsos because of the bone malformations. As a result, MESP2 https://ghr.nlm.nih.gov/gene/MESP2 db key
people with spondylocostal dysostosis have short bodies but normal-length arms related-gene gene-symbol ghr-page GTR C1853296
and legs, called short-trunk dwarfism. RIPPLY2 https://ghr.nlm.nih.gov/gene/RIPPLY2 db key
html:p The spine and rib abnormalities, which are present from birth, cause other signs related-gene gene-symbol ghr-page GTR C3150942
and symptoms of spondylocostal dysostosis. Infants with this condition have TBX6 https://ghr.nlm.nih.gov/gene/TBX6 db key
small chests that cannot expand adequately, often leading to life-threatening GTR C4225279
breathing problems. As the lungs expand in the narrow chest, the muscle that db key
separates the abdomen from the chest cavity (the diaphragm) is forced down and GTR CN032975
the abdomen is pushed out. The increased pressure in the abdomen can cause a db key
soft out-pouching around the lower abdomen (inguinal hernia), particularly in GeneReviews spondylocostal-d
males with spondylocostal dysostosis. db key
html:p Some people with spondylocostal dysostosis also have a type of birth defect MeSH D004413
known as a neural tube defect. Neural tube defects occur when a structure called db key
the neural tube, a layer of cells that ultimately develops into the brain and OMIM 122600
spinal cord, fails to close completely during the first few weeks of embryonic db key
development. Examples of neural tube defects that occur in people with OMIM 277300
spondylocostal dysostosis include a spinal cord abnormality known as spina db key
bifida and a brain abnormality called a Chiari malformation. OMIM 608681
html:p Although breathing problems can be fatal early in life, many affected db key
individuals live into adulthood. OMIM 609813
html:p Spondylocostal dysostosis has often been grouped with a similar condition called db key
spondylothoracic dysostosis, and both are sometimes called Jarcho-Levin OMIM 613686
syndrome; however, they are now considered distinct conditions. db key
OMIM 616566
db key
Orphanet 1797
db key
Orphanet 2311
db key
related-gene-list SNOMED CT 61367005
Spondyloenchondrodysplasia with immune dysregulation https://ghr.nlm.nih.gov/condition/spondyloenchondrodysplasia-with-immune-dysregu SPENCDI appears to be a rare condition, although its prevalence is unknown. html:p Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited ar autosomal recessive ACP5 https://ghr.nlm.nih.gov/gene/ACP5 combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia db key 2013-12 2017-12-29
lation condition that primarily affects bone growth and immune system function. The Roifman-Melamed syndrome GTR C1842763
signs and symptoms of SPENCDI can become apparent anytime from infancy to Roifman–Costa syndrome db key
adolescence. SPENCDI MeSH D007153
html:p Bone abnormalities in individuals with SPENCDI include flattened spinal bones db key
(platyspondyly), abnormalities at the ends of long bones in the limbs MeSH D010009
(metaphyseal dysplasia), and areas of damage (lesions) on the long bones and db key
spinal bones that can be seen on x-rays. Additional skeletal problems occur OMIM 607944
because of abnormalities of the tough, flexible tissue called cartilage that db key
makes up much of the skeleton during early development. Individuals with SPENCDI Orphanet 50816
often have areas where cartilage did not convert to bone. They may also have db key
noncancerous growths of cartilage (enchondromas). The bone and cartilage SNOMED CT 703523004
problems contribute to short stature in people with SPENCDI.
html:p Individuals with SPENCDI have a combination of immune system problems. Many
affected individuals have malfunctioning immune systems that attack the body's
own tissues and organs, which is known as an autoimmune reaction. The
malfunctioning immune system can lead to a variety of disorders, such as a
decrease in blood cell fragments called platelets (thrombocytopenia), premature
destruction of red blood cells (hemolytic anemia), an underactive thyroid gland
(hypothyroidism), or chronic inflammatory disorders such as systemic lupus
erythematosus or rheumatoid arthritis. In addition, affected individuals often
have abnormal immune cells that cannot grow and divide in response to harmful
invaders such as bacteria and viruses. As a result of this immune deficiency,
these individuals have frequent fevers and recurrent respiratory infections.
html:p Some people with SPENCDI have neurological problems such as abnormal muscle
stiffness (spasticity), difficulty with coordinating movements (ataxia), and
intellectual disability. They may also have abnormal deposits of calcium
(calcification) in the brain.
html:p Due to the range of immune system problems, people with SPENCDI typically have
a shortened life expectancy, but figures vary widely.
spondyloepimetaphyseal dysplasia with joint laxity 2,SEMDJL2
脊椎干骺端發育不良
related-gene-list
Spondyloepimetaphyseal dysplasia, Strudwick type https://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type This condition is rare; only a few affected individuals have been reported html:p Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of ad autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 Dappled metaphysis syndrome db key 2008-07 2017-12-29
worldwide. bone growth that results in short stature (dwarfism), skeletal abnormalities, SED Strudwick GTR C0700635
and problems with vision. This condition affects the bones of the spine SEMD, Strudwick type db key
(spondylo-) and two regions (epiphyses and metaphyses) near the ends of long SMED, Strudwick type MeSH D003095
bones in the arms and legs. The Strudwick type was named after the first SMED, type I db key
reported patient with the disorder. Spondylometaepiphyseal dysplasia congenita, Strudwick type MeSH D010009
html:p People with this condition have short stature from birth, with a very short Spondylometaphyseal dysplasia (SMD) db key
trunk and shortened limbs. Their hands and feet, however, are usually Strudwick syndrome OMIM 184250
average-sized. Affected individuals may have an abnormally curved lower back db key
(lordosis) or a spine that curves to the side (scoliosis). This abnormal spinal Orphanet 252
curvature may be severe and can cause problems with breathing. Instability of db key
the spinal bones (vertebrae) in the neck may increase the risk of spinal cord SNOMED CT 702350003
damage. Other skeletal features include flattened vertebrae (platyspondyly),
severe protrusion of the breastbone (pectus carinatum), an abnormality of the
hip joint that causes the upper leg bones to turn inward (coxa vara), and an
inward- and upward-turning foot (clubfoot). Arthritis may develop early in
life.
html:p People with spondyloepimetaphyseal dysplasia, Strudwick type have mild changes
in their facial features. Some infants are born with an opening in the roof of
the mouth (a cleft palate) and their cheekbones may appear flattened. Eye
problems that can impair vision are common, such as severe nearsightedness (high
myopia) and tearing of the lining of the eye (retinal detachment).
Spondyloepiphyseal dysplasia Tarda
遲發性脊椎骨發育不全
related-gene-list
Spondyloepiphyseal dysplasia congenita (SEDC) https://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita This condition is rare; the exact incidence is unknown. More than 175 html:p Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that ad autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 SED congenita db key 2016-04 2017-12-29
先天性脊椎骨骨后發育不全 cases have been reported in the scientific literature. results in short stature (dwarfism), skeletal abnormalities, and problems with SED, congenital type GTR C0038015
vision and hearing. This condition affects the bones of the spine (spondylo-) SEDc db key
and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates Spondyloepiphyseal dysplasia, congenital type ICD-10-CM Q77.7
that the condition is present from birth. db key
html:p People with spondyloepiphyseal dysplasia congenita have short stature from MeSH D010009
birth, with a very short trunk and neck and shortened limbs. Their hands and db key
feet, however, are usually average-sized. Adult height ranges from 3 feet to OMIM 183900
just over 4 feet. Abnormal curvature of the spine (kyphoscoliosis and lordosis) db key
becomes more severe during childhood. Instability of the spinal bones Orphanet 253
(vertebrae) in the neck may increase the risk of spinal cord damage. Other db key
skeletal features include flattened vertebrae (platyspondyly); an abnormality of SNOMED CT 278713008
the hip joint that causes the upper leg bones to turn inward (coxa vara); a
foot deformity called a clubfoot; and a broad, barrel-shaped chest. Abnormal
development of the chest can cause problems with breathing. Arthritis and
decreased joint mobility often develop early in life.
html:p People with spondyloepiphyseal dysplasia congenita have mild changes in their
facial features. The cheekbones close to the nose may appear flattened. Some
infants are born with an opening in the roof of the mouth (a cleft palate).
Severe nearsightedness (high myopia) is common, as are other eye problems that
can impair vision. About one quarter of people with this condition have hearing
loss.
related-gene-list
Spondyloperipheral dysplasia https://ghr.nlm.nih.gov/condition/spondyloperipheral-dysplasia This condition is rare; only a few affected individuals have been reported html:p Spondyloperipheral dysplasia is a disorder that impairs bone growth. This ad autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 SPD db key 2008-07 2017-12-29
脊柱外周发育不良 worldwide. condition is characterized by flattened bones of the spine (platyspondyly) and spondyloperipheral dysplasia with short ulna GTR C0796173
unusually short fingers and toes (brachydactyly), with the exception of the db key
first (big) toes. Other skeletal abnormalities associated with MeSH D003095
spondyloperipheral dysplasia include short stature, shortened long bones of the db key
arms and legs, exaggerated curvature of the lower back (lordosis), and an MeSH D010009
inward- and upward-turning foot (clubfoot). Additionally, some affected db key
individuals have nearsightedness (myopia), hearing loss, and intellectual OMIM 271700
disability. db key
Orphanet 1856
db key
related-gene-list SNOMED CT 702339001
Spondylothoracic dysostosis https://ghr.nlm.nih.gov/condition/spondylothoracic-dysostosis Spondylothoracic dysostosis affects about one in 200,000 people worldwide. html:p Spondylothoracic dysostosis is a condition characterized by malformation of the ar autosomal recessive MESP2 https://ghr.nlm.nih.gov/gene/MESP2 Jarcho-Levin syndrome db key 2016-06 2017-12-29
脊椎胸部发育不良 However, it is much more common in people of Puerto Rican ancestry, affecting bones of the spine and ribs. The bones of the spine (vertebrae) do not develop STD GTR C0265343
approximately one in 12,000 people. properly, which causes them to be misshapen and abnormally joined together db key
(fused). The ribs are also fused at the part nearest the spine (posteriorly), GeneReviews spondylocostal-d
which gives the rib cage its characteristic fan-like or "crab" appearance in db key
x-rays. Affected individuals have short, rigid necks and short torsos because MeSH D004413
of the bone malformations. As a result, people with spondylothoracic dysostosis db key
have short bodies but normal-length arms and legs, called short-trunk dwarfism. SNOMED CT 61367005
html:p The spine and rib abnormalities, which are present from birth, cause other signs
and symptoms of spondylothoracic dysostosis. Infants with this condition have
small chests that cannot expand adequately, often leading to life-threatening
breathing problems. As the lungs expand in the narrow chest, the muscle that
separates the abdomen from the chest cavity (the diaphragm) is forced down and
the abdomen is pushed out. The increased pressure in the abdomen can cause a
soft out-pouching around the lower abdomen (inguinal hernia) or belly-button
(umbilical hernia).
html:p Breathing problems can be fatal early in life; however, some affected
individuals live into adulthood.
html:p Spondylothoracic dysostosis is sometimes called spondylocostal dysostosis, a
similar condition with abnormalities of the spine and ribs. The two conditions
have been grouped in the past, and both are sometimes referred to as
Jarcho-Levin syndrome; however, they are now considered distinct conditions.
related-gene-list
Sporadic hemiplegic migraine https://ghr.nlm.nih.gov/condition/sporadic-hemiplegic-migraine The worldwide prevalence of sporadic hemiplegic migraine is unknown. html:p Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines ad autosomal dominant ATP1A2 https://ghr.nlm.nih.gov/gene/ATP1A2 non-familial hemiplegic migraine db key 2017-10 2017-12-29
散發性偏癱性偏頭痛 Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic typically cause intense, throbbing pain in one area of the head. Some people code memo related-gene gene-symbol ghr-page SHM GTR C1832903
migraine and that the condition occurs equally in families with multiple with migraines also experience nausea, vomiting, and sensitivity to light and n not inherited CACNA1A https://ghr.nlm.nih.gov/gene/CACNA1A db key
affected individuals (familial hemiplegic migraine) and in individuals with no sound. These recurrent headaches typically begin in childhood or adolescence and ICD-10-CM G43.4
family history of the condition (sporadic hemiplegic migraine). can be triggered by certain foods, emotional stress, and minor head trauma. db key
Each headache may last from a few hours to a few days. ICD-10-CM G43.40
html:p In sporadic hemiplegic migraine and some other types of migraine, a pattern of db key
neurological symptoms called an aura occurs before onset of the headache. An ICD-10-CM G43.41
aura commonly includes temporary visual changes such as blind spots (scotomas), db key
flashing lights, zig-zagging lines, and double vision. In people with sporadic ICD-10-CM G43.401
hemiplegic migraine, auras are also characterized by temporary numbness or db key
weakness, often affecting one side of the body (hemiparesis). Additional ICD-10-CM G43.409
features of an aura can include difficulty with speech, confusion, and db key
drowsiness. An aura typically develops gradually over a few minutes and lasts ICD-10-CM G43.411
about an hour. db key
html:p Some people with sporadic hemiplegic migraine experience unusually severe ICD-10-CM G43.419
migraine episodes. These episodes can include fever, prolonged weakness, db key
seizures, and coma. Although most people with sporadic hemiplegic migraine MeSH D020325
recover completely between episodes, neurological symptoms such as memory loss db key
and problems with attention can last for weeks or months. Some affected Orphanet 569
individuals develop mild but permanent difficulty coordinating movements db key
(ataxia), which may worsen with time, and rapid, involuntary eye movements SNOMED CT 230464001
called nystagmus. Mild to severe intellectual disability has been reported in
some people with sporadic hemiplegic migraine.
related-gene-list
Stargardt macular degeneration https://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration Stargardt macular degeneration is the most common form of juvenile macular html:p Stargardt macular degeneration is a genetic eye disorder that causes progressive ad autosomal dominant ABCA4 https://ghr.nlm.nih.gov/gene/ABCA4 juvenile macular degeneration db key 2010-11 2017-12-29
Stargardt’s disease degeneration, the signs and symptoms of which begin in childhood. The estimated vision loss. This disorder affects the retina, the specialized light-sensitive code memo related-gene gene-symbol ghr-page macular dystrophy with flecks, type 1 GTR C1838644
Stargardt's氏症 prevalence of Stargardt macular degeneration is 1 in 8,000 to 10,000 tissue that lines the back of the eye. Specifically, Stargardt macular ar autosomal recessive ELOVL4 https://ghr.nlm.nih.gov/gene/ELOVL4 Stargardt disease db key
斯特格氏病 individuals. degeneration affects a small area near the center of the retina called the STGD GTR C1855465
(Vision) macula. The macula is responsible for sharp central vision, which is needed for db key
detailed tasks such as reading, driving, and recognizing faces. In most people GTR C1863534
with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds db key
up in cells underlying the macula. Over time, the abnormal accumulation of this ICD-10-CM H35.53
substance can damage cells that are critical for clear central vision. In db key
addition to central vision loss, people with Stargardt macular degeneration have MeSH D008268
problems with night vision that can make it difficult to navigate in low light. db key
Some affected individuals also have impaired color vision. The signs and OMIM 248200
symptoms of Stargardt macular degeneration typically appear in late childhood to db key
early adulthood and worsen over time. OMIM 600110
db key
Orphanet 827
db key
SNOMED CT 47673003
db key
related-gene-list SNOMED CT 70099003
Steatocystoma multiplex https://ghr.nlm.nih.gov/condition/steatocystoma-multiplex Although the prevalence of steatocystoma multiplex is unknown, it appears html:p Steatocystoma multiplex is a skin disorder characterized by the development of ad autosomal dominant KRT17 https://ghr.nlm.nih.gov/gene/KRT17 multiple sebaceous cysts db key 2016-09 2017-12-29
多發性皮脂囊腫 to be rare. multiple noncancerous (benign) cysts known as steatocystomas. These growths multiplex steatocystoma GTR C0259771
begin in the skin's sebaceous glands, which normally produce an oily substance sebocystomatosis db key
called sebum that lubricates the skin and hair. Steatocystomas are filled with ICD-10-CM L72.2
sebum. db key
html:p In affected individuals, steatocystomas typically first appear during MeSH D062685
adolescence and are found most often on the torso, neck, upper arms, and upper db key
legs. These cysts are usually the only sign of the condition. However, some OMIM 184500
affected individuals also have mild abnormalities involving the teeth or the db key
fingernails and toenails. Orphanet 3184
db key
related-gene-list SNOMED CT 109433009
Stevens-Johnson syndrome/toxic epidermal necrolysis https://ghr.nlm.nih.gov/condition/stevens-johnson-syndrome-toxic-epidermal-necrolysis SJS/TEN is a rare disease, affecting 1 to 2 per million people each year. html:p Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin n not inherited HLA-B https://ghr.nlm.nih.gov/gene/HLA-B drug-induced Stevens Johnson syndrome db key 2015-07 2017-12-29
Stevens-Johnson syndrome (the less severe form of the condition) is more common reaction most often triggered by particular medications. Although Lyell's syndrome GTR C0014518
than toxic epidermal necrolysis.People who are HIV-positive and those with a Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be mycoplasma-induced Stevens Johnson syndrome db key
chronic inflammatory disease called systemic lupus erythematosus are more likely separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome GTR C0038325
to develop SJS/TEN than the general population. The reason for the increased Stevens-Johnson syndrome represents the less severe end of the disease spectrum, Stevens-Johnson syndrome toxic epidermal necrolysis spectrum db key
risk is unclear, but immune system factors and exposure to multiple medications and toxic epidermal necrolysis represents the more severe end. toxic epidermal necrolysis ICD-10-CM L51.1
may play a role. html:p SJS/TEN often begins with a fever and flu-like symptoms. Within a few days, the db key
skin begins to blister and peel, forming very painful raw areas called erosions ICD-10-CM L51.3
that resemble a severe hot-water burn. The skin erosions usually start on the db key
face and chest before spreading to other parts of the body. In most affected MeSH D013262
individuals, the condition also damages the mucous membranes, including the db key
lining of the mouth and the airways, which can cause trouble with swallowing and OMIM 608579
breathing. The painful blistering can also affect the urinary tract and db key
genitals. SJS/TEN often affects the eyes as well, causing irritation and redness Orphanet 36426
of the conjunctiva, which are the mucous membranes that protect the white part db key
of the eye and line the eyelids, and damage to the clear front covering of the Orphanet 95455
eye (the cornea). db key
html:p Severe damage to the skin and mucous membranes makes SJS/TEN a life-threatening SNOMED CT 1.2E+14
disease. Because the skin normally acts as a protective barrier, extensive skin db key
damage can lead to a dangerous loss of fluids and allow infections to develop. SNOMED CT 73442001
Serious complications can include pneumonia, overwhelming bacterial infections
(sepsis), shock, multiple organ failure, and death. About 10 percent of people
with Stevens-Johnson syndrome die from the disease, while the condition is fatal
in up to 50 percent of those with toxic epidermal necrolysis.
html:p Among people who survive, long-term effects of SJS/TEN can include changes in
skin coloring (pigmentation), dryness of the skin and mucous membranes
(xerosis), excess sweating (hyperhidrosis), hair loss (alopecia), and abnormal
growth or loss of the fingernails and toenails. Other long-term problems can
include impaired taste, difficulty urinating, and genital abnormalities. A small
percentage of affected individuals develop chronic dryness or inflammation of
the eyes, which can lead to increased sensitivity to light (photophobia) and
vision impairment.
related-gene-list
Stickler syndrome https://ghr.nlm.nih.gov/condition/stickler-syndrome Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I html:p Stickler syndrome is a group of hereditary conditions characterized by a ad autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 hereditary arthro-ophthalmo-dystrophy db key 2016-03 2017-12-29
斯蒂克勒綜合徵 is the most common form of the condition. distinctive facial appearance, eye abnormalities, hearing loss, and joint code memo related-gene gene-symbol ghr-page hereditary arthro-ophthalmopathy GTR C0265235
Stickler 综合征 problems. These signs and symptoms vary widely among affected individuals. ar autosomal recessive COL9A1 https://ghr.nlm.nih.gov/gene/COL9A1 Stickler dysplasia db key
html:p A characteristic feature of Stickler syndrome is a somewhat flattened facial related-gene gene-symbol ghr-page GTR C0265253
appearance. This appearance results from underdeveloped bones in the middle of COL9A2 https://ghr.nlm.nih.gov/gene/COL9A2 db key
the face, including the cheekbones and the bridge of the nose. A particular related-gene gene-symbol ghr-page GTR C1852831
group of physical features called Pierre Robin sequence is also common in people COL9A3 https://ghr.nlm.nih.gov/gene/COL9A3 db key
with Stickler syndrome. Pierre Robin sequence includes an opening in the roof related-gene gene-symbol ghr-page GTR C1858084
of the mouth (a cleft palate), a tongue that is placed further back than normal COL11A1 https://ghr.nlm.nih.gov/gene/COL11A1 db key
(glossoptosis), and a small lower jaw (micrognathia). This combination of related-gene gene-symbol ghr-page GTR C1861481
features can lead to feeding problems and difficulty breathing. COL11A2 https://ghr.nlm.nih.gov/gene/COL11A2 db key
html:p Many people with Stickler syndrome have severe nearsightedness (high myopia). In GTR C2020284
some cases, the clear gel that fills the eyeball (the vitreous) has an abnormal db key
appearance, which is noticeable during an eye examination. Other eye problems GTR C3280342
are also common, including increased pressure within the eye (glaucoma), db key
clouding of the lens of the eyes (cataracts), and tearing of the lining of the GeneReviews stickler
eye (retinal detachment). These eye abnormalities cause impaired vision or db key
blindness in some cases. MeSH D003095
html:p In people with Stickler syndrome, hearing loss varies in degree and may become db key
more severe over time. The hearing loss may be sensorineural, meaning that it OMIM 108300
results from changes in the inner ear, or conductive, meaning that it is caused db key
by abnormalities of the middle ear. OMIM 154780
html:p Most people with Stickler syndrome have skeletal abnormalities that affect the db key
joints. The joints of affected children and young adults may be loose and very OMIM 184840
flexible (hypermobile), though joints become less flexible with age. Arthritis db key
often appears early in life and may cause joint pain or stiffness. Problems with OMIM 604841
the bones of the spine (vertebrae) can also occur, including abnormal curvature db key
of the spine (scoliosis or kyphosis) and flattened vertebrae (platyspondyly). OMIM 609508
These spinal abnormalities may cause back pain. db key
html:p Researchers have described several types of Stickler syndrome, which are OMIM 614134
distinguished by their genetic causes and their patterns of signs and symptoms. db key
In particular, the eye abnormalities and severity of hearing loss differ among OMIM 614284
the types. Type I has the highest risk of retinal detachment. Type II also db key
includes eye abnormalities, but type III does not (and is often called Orphanet 560
non-ocular Stickler syndrome). Types II and III are more likely than type I to db key
have significant hearing loss. Types IV, V, and VI are very rare and have each Orphanet 828
been diagnosed in only a few individuals. db key
html:p A condition similar to Stickler syndrome, called Marshall syndrome, is SNOMED CT 33410002
characterized by a distinctive facial appearance, eye abnormalities, hearing db key
loss, and early-onset arthritis. Marshall syndrome can also include short SNOMED CT 78675000
stature. Some researchers have classified Marshall syndrome as a variant of
Stickler syndrome, while others consider it to be a separate disorder.
related-gene-list
STING-associated vasculopathy with onset in infancy https://ghr.nlm.nih.gov/condition/sting-associated-vasculopathy-with-onset-in-in The prevalence of this condition is unknown. Only a few affected html:p STING-associated vasculopathy with onset in infancy (SAVI) is a disorder ad autosomal dominant TMEM173 https://ghr.nlm.nih.gov/gene/TMEM173 SAVI db key 2014-10 2017-12-29
fancy individuals have been described in the medical literature. involving abnormal inflammation throughout the body, especially in the skin, STING-associated vasculopathy, infantile onset GTR C4014722
blood vessels, and lungs. Inflammation normally occurs when the immune system db key
sends signaling molecules and white blood cells to a site of injury or disease MeSH D056660
to fight microbial invaders and help with tissue repair. Excessive inflammation db key
damages the body's own cells and tissues. Disorders such as SAVI that result OMIM 615934
from abnormally increased inflammation are known as autoinflammatory diseases. db key
html:p The signs and symptoms of SAVI begin in the first few months of life, and most Orphanet 425120
are related to problems with blood vessels (vasculopathy) and damage to the db key
tissues that rely on these vessels for their blood supply. Affected infants SNOMED CT 711164003
develop areas of severely damaged skin (lesions), particularly on the face,
ears, nose, fingers, and toes. These lesions begin as rashes and can progress to
become wounds (ulcers) and dead tissue (necrosis). The skin problems, which
worsen in cold weather, can lead to complications such as scarred ears, a hole
in the tissue that separates the two nostrils (nasal septum perforation), or
fingers or toes that require amputation. Individuals with SAVI also have a
purplish skin discoloration (livedo reticularis) caused by abnormalities in the
tiny blood vessels of the skin. Affected individuals may also experience
episodes of Raynaud phenomenon, in which the fingers and toes turn white or blue
in response to cold temperature or other stresses. This effect occurs because
of problems with the small vessels that carry blood to the extremities.
html:p In addition to problems affecting the skin, people with SAVI have recurrent
low-grade fevers and swollen lymph nodes. They may also develop widespread lung
damage (interstitial lung disease) that can lead to the formation of scar tissue
in the lungs (pulmonary fibrosis) and difficulty breathing; these respiratory
complications can become life-threatening. Rarely, muscle inflammation
(myositis) and joint stiffness also occur.
related-gene-list
Stormorken syndrome https://ghr.nlm.nih.gov/condition/stormorken-syndrome Stormorken syndrome is a rare disorder. Approximately a dozen cases have html:p Stormorken syndrome is a rare condition that affects many body systems. Affected ad autosomal dominant STIM1 https://ghr.nlm.nih.gov/gene/STIM1 Stormorken-Sjaastad-Langslet syndrome db key 2014-08 2017-12-29
STORMORKEN综合征 been reported in the medical literature. individuals usually have thrombocytopenia, in which there are abnormally low thrombocytopathy, asplenia, and miosis GTR C1861451
numbers of blood cell fragments called platelets. Platelets are involved in db key
normal blood clotting; a shortage of platelets typically results in easy MeSH D000015
bruising and abnormal bleeding. In addition, affected individuals often have a db key
muscle disorder, called tubular aggregate myopathy, that leads to muscle MeSH D013921
weakness. Another feature of Stormorken syndrome is permanent constriction of db key
the pupils of the eyes (miosis), which may be caused by abnormalities in the OMIM 185070
muscles that control the size of the pupils. Other features include lack of a db key
functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and Orphanet 3204
difficulty with reading and spelling (dyslexia). db key
related-gene-list SNOMED CT 711407000
Sturge-Weber syndrome https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome Sturge-Weber syndrome is estimated to affect 1 in 20,000 to 50,000 html:p Sturge-Weber syndrome is a condition that affects the development of certain n not inherited GNAQ https://ghr.nlm.nih.gov/gene/GNAQ angiomatosis aculoorbital-thalamic syndrome db key 2017-02 2017-12-29
史德格-韋伯症候群 individuals. blood vessels, causing abnormalities in the brain, skin, and eyes. Sturge-Weber encephalofacial hemangiomatosis GTR C0038505
syndrome has three major features: a red or pink birthmark called a port-wine encephalofacial hemangiomatosis syndrome db key
birthmark, a brain abnormality called a leptomeningeal angioma, and increased meningo-oculo-facial angiomatosis ICD-10-CM Q85.8
pressure in the eye (glaucoma). Not all individuals with Sturge-Weber syndrome meningofacial angiomatosis-cerebral calcification syndrome db key
have all three features. neuroretinoangiomatosis MeSH D013341
html:p Most people with Sturge-Weber syndrome are born with a port-wine birthmark. This phakomatosis, Sturge-Weber db key
type of birthmark is caused by enlargement (dilatation) of small blood vessels Sturge-Weber-Dimitri syndrome OMIM 185300
(capillaries) near the surface of the skin. Port-wine birthmarks are typically Sturge-Weber-Krabbe syndrome db key
initially flat and can vary in color from pale pink to deep purple. In people SWS Orphanet 3205
with Sturge-Weber syndrome, the port-wine birthmark is on the face, typically on db key
the forehead, temple, or eyelid. The port-wine birthmark is usually only on one SNOMED CT 19886006
side of the face but can be on both sides.
html:p In Sturge-Weber syndrome, there is usually abnormal formation and growth of
blood vessels within the two thin layers of tissue that cover the brain and
spinal cord. This abnormality, which is called leptomeningeal angioma, can
impair blood flow in the brain and lead to loss of brain tissue (atrophy) and
deposits of calcium (calcification) in the brain below the angioma. The decrease
in blood flow caused by leptomeningeal angiomas can cause stroke-like episodes
in people with Sturge-Weber syndrome. These episodes often involve temporary
muscle weakness on one side of the body (hemiparesis), vision abnormalities,
seizures, and migraine headaches. In affected individuals, these episodes
usually begin by age 2. The seizures usually involve only one side of the brain
(focal seizures), during which the port-wine birthmark may darken and
individuals may lose consciousness. People with Sturge-Weber syndrome have
varying levels of cognitive function, from normal intelligence to intellectual
disability.
html:p In individuals with Sturge-Weber syndrome, glaucoma typically develops either in
infancy or early adulthood and can cause vision impairment. In some affected
infants, the pressure can become so great that the eyeballs appear enlarged and
bulging (buphthalmos). Individuals with Sturge-Weber syndrome can have tangles
of abnormal blood vessels (hemangiomas) in various parts of the eye. When these
abnormal blood vessels develop in the network of blood vessels at the back of
the eye (choroid), it is called a diffuse choroidal hemangioma and occurs in
about one-third of individuals with Sturge-Weber syndrome. A diffuse choroidal
hemangioma can cause vision loss. When present, the eye abnormalities typically
occur on the same side of the head as the port-wine birthmark.
related-gene-list
Stüve-Wiedemann syndrome https://ghr.nlm.nih.gov/condition/stuve-wiedemann-syndrome Stüve-Wiedemann syndrome is a rare condition that has been found worldwide. html:p Stüve-Wiedemann syndrome is a severe condition characterized by bone ar autosomal recessive LIFR https://ghr.nlm.nih.gov/gene/LIFR neonatal Schwartz-Jampel syndrome db key 2016-04 2017-12-29
Stüve-Wiedemann綜合症 Its prevalence is unknown. abnormalities and dysfunction of the autonomic nervous system, which controls Schwartz-Jampel type 2 syndrome GTR C0796176
involuntary body processes such as the regulation of breathing rate and body SJS2 db key
temperature. The condition is apparent from birth, and its key features include Stuve-Wiedemann dysplasia MeSH D010009
abnormal curvature (bowing) of the long bones in the legs, difficulty feeding Stuve-Wiedemann syndrome db key
and swallowing, and episodes of dangerously high body temperature Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome OMIM 601559
(hyperthermia). STWS db key
html:p In addition to bowed legs, affected infants can have bowed arms, permanently SWS Orphanet 3206
bent fingers and toes (camptodactyly), and joint deformities (contractures) in db key
the elbows and knees that restrict their movement. Other features include SNOMED CT 254097005
abnormalities of the pelvic bones (the ilia) and reduced bone mineral density
(osteopenia).
html:p In infants with Stüve-Wiedemann syndrome, dysfunction of the autonomic nervous
system typically leads to difficulty feeding and swallowing, breathing problems,
and episodes of hyperthermia. Affected infants may also sweat excessively, even
when the body temperature is not elevated, or have a reduced ability to feel
pain. Many babies with this condition do not survive past infancy because of the
problems regulating breathing and body temperature; however, some people with
Stüve-Wiedemann syndrome live into adolescence or later.
html:p Problems with breathing and swallowing usually improve in affected children who
survive infancy; however, they still have difficulty regulating body
temperature. In addition, the leg bowing worsens, and children with
Stüve-Wiedemann syndrome may develop prominent joints, an abnormal curvature of
the spine (scoliosis), and spontaneous bone fractures. Some affected individuals
have a smooth tongue that lacks the bumps that house taste buds (fungiform
papillae). Affected children may also lose certain reflexes, particularly the
reflex to blink when something touches the eye (corneal reflex) and the
knee-jerk reflex (patellar reflex).
html:p Another condition once known as Schwartz-Jampel syndrome type 2 is now
considered to be part of Stüve-Wiedemann syndrome. Researchers have recommended
that the designation Schwartz-Jampel syndrome type 2 no longer be used.
inheritance-pattern-list related-gene-list
STXBP1 encephalopathy with epilepsy https://ghr.nlm.nih.gov/condition/stxbp1-encephalopathy-with-epilepsy The prevalence of STXBP1 encephalopathy with epilepsy is unknown. At least html:p html:i ad autosomal dominant ghr-page early-infantile epileptic encephalopathy 4 db-key db key 2017-08 2017-12-29
200 individuals with this condition have been described in the medical The signs and symptoms of this condition typically begin in infancy but can https://ghr.nlm.nih.gov/gene/STXBP1 EIEE4 GTR C2677326
literature. first appear later in childhood or early adulthood. STXBP1 epileptic encephalopathy db-key db key
STXBP1-related early-onset encephalopathy GeneReviews stxbp1-ee
The most common seizures in STXBP1 encephalopathy with epilepsy are STXBP1-related epileptic encephalopathy db-key db key
html:p infantile spasms, which occur before age 1 and consist of involuntary muscle contractions. MeSH D001925
STXBP1 db-key db key
MeSH D004831
db-key db key
OMIM 612164
encephalopathy with epilepsy have more than one type of seizure. In about db-key db key
one-quarter of individuals, the seizures are described as refractory because Orphanet 1934
they do not respond to therapy with anti-epileptic medications. db-key db key
html:p html:i SNOMED CT 230429005
STXBP1
related-gene-list
Succinate-CoA ligase deficiency https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency Although the exact prevalence of succinate-CoA ligase deficiency is html:p Succinate-CoA ligase deficiency is an inherited disorder that affects the early ar autosomal recessive SUCLA2 https://ghr.nlm.nih.gov/gene/SUCLA2 mitochondrial DNA depletion syndrome, encephalomyopathic form, with mild db key 2009-08 2017-12-29
琥珀酸-CoA連接酶缺乏症 unknown, it appears to be very rare. This condition occurs more frequently among development of the brain and other body systems. One of the earliest signs of related-gene gene-symbol ghr-page methylmalonic aciduria GTR C2749864
people from the Faroe Islands in the North Atlantic Ocean. the disorder is very weak muscle tone (severe hypotonia), which appears in the SUCLG1 https://ghr.nlm.nih.gov/gene/SUCLG1 mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic db key
first few months of life. Severe hypotonia delays the development of motor aciduria GTR C3151476
skills such as holding up the head and rolling over. Many affected children also succinate-coenzyme A ligase deficiency db key
have muscle weakness and reduced muscle mass, which prevents them from standing GeneReviews sucla2-def
and walking independently. db key
html:p Additional features of succinate-CoA ligase deficiency can include progressive GeneReviews suclg1-mtddepl
abnormal curvature of the spine (scoliosis or kyphosis), uncontrolled movements db key
(dystonia), severe hearing loss, and seizures beginning in childhood. In most MeSH D028361
affected children, a substance called methylmalonic acid builds up abnormally in db key
the body and is excreted in urine (methylmalonic aciduria). Most children with OMIM 245400
succinate-CoA ligase deficiency also experience a failure to thrive, which db key
means that they gain weight and grow more slowly than expected. OMIM 612073
html:p Succinate-CoA ligase deficiency causes breathing difficulties that often lead to db key
recurrent infections of the respiratory tract. These infections can be Orphanet 35698
life-threatening, and most people with succinate-CoA ligase deficiency live only db key
into childhood or adolescence. SNOMED CT 445275003
html:p A few individuals with succinate-CoA ligase deficiency have had an even more
severe form of the disorder known as fatal infantile lactic acidosis. Affected
infants develop a toxic buildup of lactic acid in the body (lactic acidosis) in
the first day of life, which leads to muscle weakness and breathing
difficulties. Children with fatal infantile lactic acidosis usually live only a
few days after birth.
related-gene-list
Succinic semialdehyde dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/succinic-semialdehyde-dehydrogenase-deficiency Approximately 350 people with succinic semialdehyde dehydrogenase html:p Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a ar autosomal recessive ALDH5A1 https://ghr.nlm.nih.gov/gene/ALDH5A1 4-hydroxybutyric aciduria db key 2008-06 2017-12-29
琥珀酸半醛脫氫酶缺乏症 deficiency have been reported worldwide. variety of neurological problems. People with this condition typically have 4-hydroxybutyricaciduria GTR C0268631
developmental delay, especially involving speech development; intellectual Gamma-hydroxybutyric acidemia db key
disability; and decreased muscle tone (hypotonia) soon after birth. About half gamma-hydroxybutyric aciduria GeneReviews ssadh
of those affected experience seizures, difficulty coordinating movements SSADH deficiency db key
(ataxia), decreased reflexes (hyporeflexia), and behavioral problems. The most MeSH D020739
common behavioral problems associated with this condition are sleep db key
disturbances, hyperactivity, difficulty maintaining attention, and anxiety. OMIM 271980
Less frequently, affected individuals may have increased aggression, db key
hallucinations, obsessive-compulsive disorder (OCD), and self-injurious Orphanet 22
behavior, including biting and head banging. People with this condition can db key
also have problems controlling eye movements. Less common features of succinic SNOMED CT 49748000
semialdehyde dehydrogenase deficiency include uncontrollable movements of the
limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle
twitches (myoclonus), and a progressive worsening of ataxia.
related-gene-list
Succinyl-CoA:3-ketoacid CoA transferase deficiency https://ghr.nlm.nih.gov/condition/succinyl-coa3-ketoacid-coa-transferase-deficie The prevalence of SCOT deficiency is unknown. More than 20 cases of this html:p Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited ar autosomal recessive OXCT1 https://ghr.nlm.nih.gov/gene/OXCT1 3-oxoacid CoA transferase deficiency db key 2011-12 2017-12-29
琥珀酰-CoA：3-酮酸CoA轉移酶缺乏 ncy condition have been reported in the scientific literature. disorder that impairs the body's ability to break down ketones, which are ketoacidosis due to SCOT deficiency GTR C0342792
molecules produced in the liver during the breakdown of fats. SCOT deficiency db key
html:p The signs and symptoms of SCOT deficiency typically appear within the first few succinyl-CoA 3-oxoacid transferase deficiency MeSH D007662
years of life. Affected individuals experience episodes of extreme tiredness succinyl-CoA:3-oxoacid CoA transferase deficiency db key
(lethargy), appetite loss, vomiting, rapid breathing, and, occasionally, succinyl-CoA:acetoacetate transferase deficiency OMIM 245050
seizures. These episodes, which are called ketoacidotic attacks, sometimes lead db key
to coma. About half of affected individuals have a ketoacidotic attack within Orphanet 832
the first 4 days of life. Affected individuals have no symptoms of the disorder db key
between ketoacidotic attacks. SNOMED CT 124366000
html:p People with SCOT deficiency usually have a permanently elevated level of ketones db key
in their blood (persistent ketosis). If the level of ketones gets too high, SNOMED CT 238004006
which can be brought on by infections, fevers, or periods without food
(fasting), a ketoacidotic attack can occur. The frequency of ketoacidotic
attacks varies among affected individuals.
related-gene-list
Sudden infant death with dysgenesis of the testes syndrome https://ghr.nlm.nih.gov/condition/sudden-infant-death-with-dysgenesis-of-the-tes SIDDT has been diagnosed in more than 20 infants from a single Old Order html:p Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare ar autosomal recessive TSPYL1 https://ghr.nlm.nih.gov/gene/TSPYL1 SIDDT db key 2014-12 2017-12-29
tes-syndrome Amish community in Pennsylvania. The condition has not been reported outside condition that is fatal in the first year of life; its major features include GTR C1837371
this community. abnormalities of the reproductive system in males, feeding difficulties, and db key
breathing problems. MeSH D006061
html:p Infants with SIDDT who are genetically male, with one X chromosome and one Y db key
chromosome in each cell, have underdeveloped or abnormal testes. They may also MeSH D013398
have external genitalia that appear female or that do not look clearly male or db key
clearly female (ambiguous genitalia). In affected infants who are genetically OMIM 608800
female, with two X chromosomes in each cell, development of the internal and db key
external reproductive organs is normal. Orphanet 168593
html:p SIDDT is associated with abnormal development of the brain, particularly the db key
brainstem, which is the part of the brain that is connected to the spinal cord. SNOMED CT 711157000
The brainstem regulates many basic body functions, including heart rate,
breathing, eating, and sleeping. It also relays information about movement and
the senses between the brain and the rest of the body. Many features of SIDDT
appear to be related to brainstem malfunction, including a slow or uneven heart
rate, abnormal breathing patterns, difficulty controlling body temperature,
unusual tongue and eye movements, abnormal reflexes, seizures, and feeding
difficulties. Affected infants also have an unusual cry that has been described
as similar to the bleating of a goat, which is probably a result of abnormal
nerve connections between the brain and the voicebox (larynx).
html:p The brainstem abnormalities lead to death in the first year of life, when
affected infants suddenly stop breathing or their heart stops beating
(cardiorespiratory arrest).
Sulfite oxidase deficiency
亞硫酸鹽氧化酶缺乏
related-gene-list
Supravalvular aortic stenosis https://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis SVAS occurs in 1 in 20,000 newborns worldwide. html:p Supravalvular aortic stenosis (SVAS) is a heart defect that develops before ad autosomal dominant ELN https://ghr.nlm.nih.gov/gene/ELN aortic stenosis, supravalvular db key 2012-05 2017-12-29
瓣膜上主動脈瓣狹窄 birth. This defect is a narrowing (stenosis) of the large blood vessel that stenosis, aortic supravalvular GTR C0003499
carries blood from the heart to the rest of the body (the aorta). The condition stenosis, supravalvular aortic db key
is described as supravalvular because the section of the aorta that is narrowed supravalvular stenosis, aortic ICD-10-CM Q25.3
is located just above the valve that connects the aorta with the heart (the SVAS db key
aortic valve). Some people with SVAS also have defects in other blood vessels, MeSH D021921
most commonly stenosis of the artery from the heart to the lungs (the pulmonary db key
artery). An abnormal heart sound during a heartbeat (heart murmur) can often be OMIM 185500
heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead db key
to shortness of breath, chest pain, and ultimately heart failure. Orphanet 3193
html:p The severity of SVAS varies considerably, even among family members. Some db key
affected individuals die in infancy, while others never experience symptoms of SNOMED CT 268185002
the disorder.
related-gene-list
Surfactant dysfunction https://ghr.nlm.nih.gov/condition/surfactant-dysfunction One type of surfactant dysfunction, SP-B deficiency, is estimated to occur html:p Surfactant dysfunction is a lung disorder that causes breathing problems. This ad autosomal dominant ABCA3 https://ghr.nlm.nih.gov/gene/ABCA3 interstitial lung disease due to surfactant deficiency db key 2017-07 2017-12-29
表面活性劑功能障礙 in 1 in 1 million newborns worldwide. The prevalence of surfactant dysfunction condition results from abnormalities in the composition or function of code memo related-gene gene-symbol ghr-page pulmonary surfactant metabolism dysfunction GTR C1968602
due to other causes is unknown. surfactant, a mixture of certain fats (called phospholipids) and proteins that ar autosomal recessive CSF2RA https://ghr.nlm.nih.gov/gene/CSF2RA surfactant metabolism deficiency db key
lines the lung tissue and makes breathing easy. Without normal surfactant, the related-gene gene-symbol ghr-page GTR C1970470
tissue surrounding the air sacs in the lungs (the alveoli) sticks together CSF2RB https://ghr.nlm.nih.gov/gene/CSF2RB db key
(because of a force called surface tension) after exhalation, causing the related-gene gene-symbol ghr-page GTR C2677877
alveoli to collapse. As a result, filling the lungs with air on each breath SFTPB https://ghr.nlm.nih.gov/gene/SFTPB db key
becomes very difficult, and the delivery of oxygen to the body is impaired. related-gene gene-symbol ghr-page GTR C3280574
html:p The signs and symptoms of surfactant dysfunction can vary in severity. The most SFTPC https://ghr.nlm.nih.gov/gene/SFTPC db key
severe form of this condition causes respiratory distress syndrome in newborns. ICD-10-CM J84.83
Affected babies have extreme difficulty breathing and are unable to get enough db key
oxygen. The lack of oxygen can damage the baby's brain and other organs. This MeSH D017563
syndrome leads to respiratory failure, and most babies with this form of the db key
condition do not survive more than a few months. OMIM 265120
html:p Less severe forms of surfactant dysfunction cause gradual onset of breathing db key
problems in children or adults. Signs and symptoms of these milder forms are OMIM 300770
abnormally rapid breathing (tachypnea); low concentrations of oxygen in the db key
blood (hypoxemia); and an inability to grow or gain weight at the expected rate OMIM 610913
(failure to thrive). db key
html:p There are several types of surfactant dysfunction, which are identified by the OMIM 614370
genetic cause of the condition. One type, called SP-B deficiency, causes db key
respiratory distress syndrome in newborns. Other types, known as SP-C Orphanet 100049
dysfunction and ABCA3 deficiency, have signs and symptoms that range from mild db key
to severe. Orphanet 217563
db key
related-gene-list SNOMED CT 3.3E+14
Swyer syndrome https://ghr.nlm.nih.gov/condition/swyer-syndrome Swyer syndrome occurs in approximately 1 in 80,000 people. html:p Swyer syndrome is a condition that affects sexual development. Sexual ad autosomal dominant CBX2 https://ghr.nlm.nih.gov/gene/CBX2 46,XY CGD db key 2015-03 2017-12-29
Swyer綜合症 development is usually determined by an individual's chromosomes; however, in code memo related-gene gene-symbol ghr-page 46,XY complete gonadal dysgenesis GTR C1848296
Swyer syndrome, sexual development does not match the affected individual's ar autosomal recessive DHH https://ghr.nlm.nih.gov/gene/DHH 46,XY sex reversal db key
chromosomal makeup. code memo related-gene gene-symbol ghr-page gonadal dysgenesis, 46,XY GTR C1856273
html:p People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, n not inherited DMRT1 https://ghr.nlm.nih.gov/gene/DMRT1 gonadal dysgenesis, XY female type db key
known as X and Y, are called sex chromosomes because they help determine whether code memo related-gene gene-symbol ghr-page pure gonadal dysgenesis 46,XY GTR C2748896
a person will develop male or female sex characteristics. Girls and women y Y-linked MAP3K1 https://ghr.nlm.nih.gov/gene/MAP3K1 XY pure gonadal dysgenesis db key
typically have two X chromosomes (46,XX karyotype), while boys and men usually related-gene gene-symbol ghr-page GTR C2751317
have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, NR0B1 https://ghr.nlm.nih.gov/gene/NR0B1 db key
individuals with one X chromosome and one Y chromosome in each cell, the related-gene gene-symbol ghr-page GTR C2751824
pattern typically found in boys and men, have female reproductive structures. NR5A1 https://ghr.nlm.nih.gov/gene/NR5A1 db key
html:p People with Swyer syndrome have typical female external genitalia. The uterus related-gene gene-symbol ghr-page GTR C2752149
and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are SOX9 https://ghr.nlm.nih.gov/gene/SOX9 db key
not functional; affected individuals have undeveloped clumps of tissue called related-gene gene-symbol ghr-page GTR C2936694
streak gonads. Because of the lack of development of the gonads, Swyer syndrome SRY https://ghr.nlm.nih.gov/gene/SRY db key
is also called 46,XY complete gonadal dysgenesis. The residual gonadal tissue related-gene gene-symbol ghr-page GTR C3151064
often becomes cancerous, so it is usually removed surgically early in life. ZFPM2 https://ghr.nlm.nih.gov/gene/ZFPM2 db key
html:p People with Swyer syndrome are typically raised as girls and have a female GTR C4015129
gender identity. Because they do not have functional ovaries, affected db key
individuals usually begin hormone replacement therapy during adolescence to GTR CN043561
induce menstruation and development of female secondary sex characteristics such db key
as breast enlargement and uterine growth. Hormone replacement therapy also GeneReviews gonad-dys-46xy
helps reduce the risk of reduced bone density (osteopenia and osteoporosis). db key
Women with this disorder do not produce eggs (ova), but they may be able to ICD-10-CM Q97.3
become pregnant with a donated egg or embryo. db key
html:p Swyer syndrome usually affects only sexual development; such cases are called MeSH D006061
isolated Swyer syndrome. However, depending on the genetic cause, Swyer syndrome db key
may also occur along with health conditions such as nerve problems (neuropathy) OMIM 154230
or as part of a syndrome such as campomelic dysplasia, which causes severe db key
skeletal abnormalities. OMIM 233420
db key
OMIM 300018
db key
OMIM 400044
db key
OMIM 612965
db key
OMIM 613080
db key
OMIM 613762
db key
OMIM 616067
db key
Orphanet 242
db key
inheritance-pattern-list SNOMED CT 95218005
SYNGAP1-related intellectual disability https://ghr.nlm.nih.gov/condition/syngap1-related-intellectual-disability SYNGAP1-related intellectual disability is a relatively common form of html:p html:i ad autosomal dominant gene-symbol synonym mental retardation, autosomal dominant 5 db-key db key 2016-05 2017-12-29
cognitive impairment. It is estimated to account for 1 to 2 percent of SYNGAP1 SYNGAP1 synonym MRD5 GTR C2675473
intellectual disability cases. db-key db key
MeSH D008607
db-key db key
OMIM 612621
-related intellectual disability include recurrent seizures (epilepsy),
hyperactivity, and autism spectrum disorder, which is characterized by impaired
html:i -related intellectual disability develops epilepsy, and about half have autism
SYNGAP1 spectrum disorder.
Synpolydactyly(SPD)
多指症
related-gene-list
Systemic lupus erythematosus https://ghr.nlm.nih.gov/condition/systemic-lupus-erythematosus SLE has been estimated to affect between 322,000 and 1.5 million people in html:p Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation ar autosomal recessive BANK1 https://ghr.nlm.nih.gov/gene/BANK1 disseminated lupus erythematosus db key 2016-06 2017-12-29
系统性红斑狼疮 the United States. The exact prevalence is difficult to determine because many in connective tissues, such as cartilage and the lining of blood vessels, which code memo related-gene gene-symbol ghr-page LE syndrome GTR C1835919
of the signs and symptoms of SLE resemble those of other disorders. Diagnosis provide strength and flexibility to structures throughout the body. The signs n not inherited C4A https://ghr.nlm.nih.gov/gene/C4A Libman-Sacks disease db key
may be delayed for years, and the condition may never be diagnosed in some and symptoms of SLE vary among affected individuals, and can involve many organs related-gene gene-symbol ghr-page lupus GTR C1835929
affected individuals. Females develop SLE about nine times more often than and systems, including the skin, joints, kidneys, lungs, central nervous C4B https://ghr.nlm.nih.gov/gene/C4B SLE db key
males. It is most common in younger women, peaking during the childbearing system, and blood-forming (hematopoietic) system. SLE is one of a large group of related-gene gene-symbol ghr-page GTR C1842057
years; however, 20 percent of SLE cases occur in people over age 50.For unknown conditions called autoimmune disorders that occur when the immune system C4B_2 https://ghr.nlm.nih.gov/gene/C4B_2 db key
reasons, in industrialized Western countries SLE has become 10 times more common attacks the body's own tissues and organs. related-gene gene-symbol ghr-page GTR C1842755
over the past 50 years. The prevalence of SLE in Africa and Asia is believed to html:p SLE may first appear as extreme tiredness (fatigue), a vague feeling of CR2 https://ghr.nlm.nih.gov/gene/CR2 db key
be much lower than in Western nations; however, in industrialized Western discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most related-gene gene-symbol ghr-page GTR C1842756
countries, people of African and Asian descent are two to four times more likely affected individuals also have joint pain, typically affecting the same joints CRP https://ghr.nlm.nih.gov/gene/CRP db key
to develop SLE than are people of European descent. Researchers suggest that on both sides of the body, and muscle pain and weakness. Skin problems are related-gene gene-symbol ghr-page GTR C1842757
factors such as ethnic mixing, tobacco use in industrialized countries, and the common in SLE. A characteristic feature is a flat red rash across the cheeks and CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 db key
different types of infections people acquire in different regions may contribute bridge of the nose, called a "butterfly rash" because of its shape. The rash, related-gene gene-symbol ghr-page GTR C1846533
to these differences. For example malaria, which occurs often in tropical which generally does not hurt or itch, often appears or becomes more pronounced DNASE1 https://ghr.nlm.nih.gov/gene/DNASE1 db key
regions, is thought to be protective against SLE, while the Epstein-Barr virus, when exposed to sunlight. Other skin problems that may occur in SLE include related-gene gene-symbol ghr-page GTR C1854235
more common in the West, increases SLE risk. calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) DNASE1L3 https://ghr.nlm.nih.gov/gene/DNASE1L3 db key
in the skin, and tiny red spots called petechiae. Petechiae are caused by a related-gene gene-symbol ghr-page GTR C1854577
shortage of cell fragments involved in clotting (platelets), which leads to FCGR2B https://ghr.nlm.nih.gov/gene/FCGR2B db key
bleeding under the skin. Affected individuals may also have hair loss (alopecia) related-gene gene-symbol ghr-page GTR C1864265
and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, IRF5 https://ghr.nlm.nih.gov/gene/IRF5 db key
or, less commonly, the genitals. related-gene gene-symbol ghr-page GTR C1864731
html:p About a third of people with SLE develop kidney disease (nephritis). Heart ITGAM https://ghr.nlm.nih.gov/gene/ITGAM db key
problems may also occur in SLE, including inflammation of the sac-like membrane related-gene gene-symbol ghr-page GTR C1864732
around the heart (pericarditis) and abnormalities of the heart valves, which LTK https://ghr.nlm.nih.gov/gene/LTK db key
control blood flow in the heart. Heart disease caused by fatty buildup in the related-gene gene-symbol ghr-page GTR C1866373
blood vessels (atherosclerosis), which is very common in the general population, NCF2 https://ghr.nlm.nih.gov/gene/NCF2 db key
is even more common in people with SLE. The inflammation characteristic of SLE related-gene gene-symbol ghr-page GTR C1970455
can also damage the nervous system, and may result in abnormal sensation and PDCD1 https://ghr.nlm.nih.gov/gene/PDCD1 db key
weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty related-gene gene-symbol ghr-page GTR C2676487
processing, learning, and remembering information (cognitive impairment). PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
Anxiety and depression are also common in SLE. related-gene gene-symbol ghr-page GTR C2677095
html:p People with SLE have episodes in which the condition gets worse (exacerbations) RASGRP1 https://ghr.nlm.nih.gov/gene/RASGRP1 db key
and other times when it gets better (remissions). Overall, SLE gradually gets related-gene gene-symbol ghr-page GTR C2677096
worse over time, and damage to the major organs of the body can be RIPK1 https://ghr.nlm.nih.gov/gene/RIPK1 db key
life-threatening. related-gene gene-symbol ghr-page GTR C2677097
STAT4 https://ghr.nlm.nih.gov/gene/STAT4 db key
related-gene gene-symbol ghr-page GTR C2749008
TLR5 https://ghr.nlm.nih.gov/gene/TLR5 db key
related-gene gene-symbol ghr-page GTR C2751054
TNFAIP3 https://ghr.nlm.nih.gov/gene/TNFAIP3 db key
related-gene gene-symbol ghr-page GTR C3280742
TNFSF4 https://ghr.nlm.nih.gov/gene/TNFSF4 db key
related-gene gene-symbol ghr-page ICD-10-CM M32
TREX1 https://ghr.nlm.nih.gov/gene/TREX1 db key
MeSH D008180
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OMIM 152700
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OMIM 300809
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OMIM 601744
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OMIM 605218
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OMIM 605480
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OMIM 607279
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OMIM 607965
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OMIM 607966
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OMIM 607967
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OMIM 608437
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OMIM 609903
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OMIM 609939
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OMIM 610065
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OMIM 610066
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OMIM 610927
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OMIM 612251
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OMIM 612253
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OMIM 612254
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OMIM 612378
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OMIM 613145
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OMIM 614420
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Orphanet 536
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related-gene-list SNOMED CT 55464009
Systemic scleroderma https://ghr.nlm.nih.gov/condition/systemic-scleroderma The prevalence of systemic scleroderma is estimated to range from 50 to 300 html:p Systemic scleroderma is an autoimmune disorder that affects the skin and n not inherited BANK1 https://ghr.nlm.nih.gov/gene/BANK1 familial progressive scleroderma db key 2015-04 2017-12-29
系統性硬皮症 cases per 1 million people. For reasons that are unknown, women are four times internal organs. Autoimmune disorders occur when the immune system malfunctions code memo related-gene gene-symbol ghr-page progressive scleroderma GTR C1866983
more likely to develop the condition than men. and attacks the body's own tissues and organs. The word "scleroderma" means hard u pattern unknown BLK https://ghr.nlm.nih.gov/gene/BLK systemic sclerosis db key
skin in Greek, and the condition is characterized by the buildup of scar tissue related-gene gene-symbol ghr-page ICD-10-CM M34
(fibrosis) in the skin and other organs. The condition is also called systemic IRF5 https://ghr.nlm.nih.gov/gene/IRF5 db key
sclerosis because the fibrosis can affect organs other than the skin. Fibrosis related-gene gene-symbol ghr-page ICD-10-CM M34.0
is due to the excess production of a tough protein called collagen, which PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
normally strengthens and supports connective tissues throughout the body. related-gene gene-symbol ghr-page ICD-10-CM M34.1
html:p The signs and symptoms of systemic scleroderma usually begin with episodes of STAT4 https://ghr.nlm.nih.gov/gene/STAT4 db key
Raynaud phenomenon, which can occur weeks to years before fibrosis. In Raynaud related-gene gene-symbol ghr-page ICD-10-CM M34.8
phenomenon, the fingers and toes of affected individuals turn white or blue in TNFSF4 https://ghr.nlm.nih.gov/gene/TNFSF4 db key
response to cold temperature or other stresses. This effect occurs because of ICD-10-CM M34.9
problems with the small vessels that carry blood to the extremities. Another db key
early sign of systemic scleroderma is puffy or swollen hands before thickening ICD-10-CM M34.81
and hardening of the skin due to fibrosis. Skin thickening usually occurs first db key
in the fingers (called sclerodactyly) and may also involve the hands and face. ICD-10-CM M34.82
In addition, people with systemic scleroderma often have open sores (ulcers) on db key
their fingers, painful bumps under the skin (calcinosis), or small clusters of ICD-10-CM M34.83
enlarged blood vessels just under the skin (telangiectasia). db key
html:p Fibrosis can also affect internal organs and can lead to impairment or failure ICD-10-CM M34.89
of the affected organs. The most commonly affected organs are the esophagus, db key
heart, lungs, and kidneys. Internal organ involvement may be signaled by MeSH D012595
heartburn, difficulty swallowing (dysphagia), high blood pressure db key
(hypertension), kidney problems, shortness of breath, diarrhea, or impairment of OMIM 181750
the muscle contractions that move food through the digestive tract (intestinal db key
pseudo-obstruction). SNOMED CT 89155008
html:p There are three types of systemic scleroderma, defined by the tissues affected
in the disorder. In one type of systemic scleroderma, known as limited cutaneous
systemic scleroderma, fibrosis usually affects only the hands, arms, and face.
Limited cutaneous systemic scleroderma used to be known as CREST syndrome, which
is named for the common features of the condition: calcinosis, Raynaud
phenomenon, esophageal motility dysfunction, sclerodactyly, and telangiectasia.
In another type of systemic scleroderma, known as diffuse cutaneous systemic
scleroderma, the fibrosis affects large areas of skin, including the torso and
the upper arms and legs, and often involves internal organs. In diffuse
cutaneous systemic scleroderma, the condition worsens quickly and organ damage
occurs earlier than in other types of the condition. In the third type of
systemic scleroderma, called systemic sclerosis sine scleroderma ("sine" means
without in Latin), fibrosis affects one or more internal organs but not the
skin.
html:p Approximately 15 percent to 25 percent of people with features of systemic
scleroderma also have signs and symptoms of another condition that affects
connective tissue, such as polymyositis, dermatomyositis, rheumatoid arthritis,
Sjögren syndrome, or systemic lupus erythematosus. The combination of systemic
scleroderma with other connective tissue abnormalities is known as scleroderma
overlap syndrome.
related-gene-list
T-cell immunodeficiency, congenital alopecia, and nail dystrophy https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-an T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a rare html:p T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of ar autosomal recessive FOXN1 https://ghr.nlm.nih.gov/gene/FOXN1 alymphoid cystic thymic dysgenesis db key 2014-08 2017-12-29
T细胞免疫缺陷、先天性脱发和指甲营养不良综合征 d-nail-dystrophy disorder. It has been diagnosed in only a few individuals, almost all of whom severe combined immunodeficiency (SCID), which is a group of disorders congenital alopecia and nail dystrophy associated with severe functional T-cell GTR C1866426
are members of a large extended family from a community in southern Italy. characterized by an almost total lack of immune protection from foreign invaders immunodeficiency db key
such as bacteria and viruses. People with this form of SCID are missing Pignata Guarino syndrome MeSH D016511
functional immune cells called T cells, which normally recognize and attack winged helix deficiency db key
foreign invaders to prevent infection. Without functional T cells, affected OMIM 601705
individuals develop repeated and persistent infections starting early in life. db key
The infections result in slow growth and can be life-threatening; without Orphanet 169095
effective treatment, most affected individuals live only into infancy or early db key
childhood. SNOMED CT 720345008
html:p T-cell immunodeficiency, congenital alopecia, and nail dystrophy also affects
growth of the hair and nails. Congenital alopecia refers to an absence of hair
that is apparent from birth. Affected individuals have no scalp hair, eyebrows,
or eyelashes. Nail dystrophy is a general term that describes malformed
fingernails and toenails; in this condition, the nails are often ridged, pitted,
or abnormally curved.
html:p Researchers have described abnormalities of the brain and spinal cord (central
nervous system) in at least two cases of this condition. However, it is not yet
known whether central nervous system abnormalities are a common feature of
T-cell immunodeficiency, congenital alopecia, and nail dystrophy.
related-gene-list
Tangier disease https://ghr.nlm.nih.gov/condition/tangier-disease Tangier disease is a rare disorder with approximately 100 cases identified html:p Tangier disease is an inherited disorder characterized by significantly reduced ar autosomal recessive ABCA1 https://ghr.nlm.nih.gov/gene/ABCA1 A-alphalipoprotein Neuropathy db key 2010-03 2017-12-29
丹吉爾病 worldwide. More cases are likely undiagnosed. This condition is named after an levels of high-density lipoprotein (HDL) in the blood. HDL transports alpha High Density Lipoprotein Deficiency Disease GTR C0039292
island off the coast of Virginia where the first affected individuals were cholesterol and certain fats called phospholipids from the body's tissues to the Analphalipoproteinemia db key
identified. liver, where they are removed from the blood. HDL is often referred to as "good Cholesterol thesaurismosis MeSH D013631
cholesterol" because high levels of this substance reduce the chances of Familial High Density Lipoprotein Deficiency Disease db key
developing heart and blood vessel (cardiovascular) disease. Because people with Familial Hypoalphalipoproteinemia OMIM 205400
Tangier disease have very low levels of HDL, they have a moderately increased HDL Lipoprotein Deficiency Disease db key
risk of cardiovascular disease. Lipoprotein Deficiency Disease, HDL, Familial Orphanet 31150
html:p Additional signs and symptoms of Tangier disease include a slightly elevated Tangier Disease Neuropathy db key
amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve Tangier Hereditary Neuropathy SNOMED CT 15346004
function (neuropathy); and enlarged, orange-colored tonsils. Affected
individuals often develop atherosclerosis, which is an accumulation of fatty
deposits and scar-like tissue in the lining of the arteries. Other features of
this condition may include an enlarged spleen (splenomegaly), an enlarged liver
(hepatomegaly), clouding of the clear covering of the eye (corneal clouding),
and type 2 diabetes.
related-gene-list
Tarsal-carpal coalition syndrome https://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome This condition is very rare; however, the exact prevalence is unknown. html:p Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects ad autosomal dominant NOG https://ghr.nlm.nih.gov/gene/NOG NOG-related-symphalangism spectrum disorder db key 2012-04 2017-12-29
primarily the hands and feet. Several individual bones make up each wrist TCC GTR C1861305
(carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, db key
the carpal bones fuse together, as do the tarsal bones, which causes stiffness MeSH D013580
and immobility of the hands and feet. Symptoms of the condition can become db key
apparent in infancy, and they worsen with age. The severity of the symptoms can OMIM 186570
vary, even among members of the same family. db key
html:p In this condition, fusion at the joints between the bones that make up each Orphanet 1412
finger and toe (symphalangism) can also occur. Consequently, the fingers and db key
toes become stiff and difficult to bend. Stiffness of the pinky fingers and toes SNOMED CT 702312009
(fifth digits) is usually noticeable first. The joints at the base of the pinky
fingers and toes fuse first, and slowly, the other joints along the length of
these digits may also be affected. Progressively, the bones in the fourth,
third, and second digits (the ring finger, middle finger, and forefinger, and
the corresponding toes) become fused. The thumb and big toe are usually not
involved. Affected individuals have increasing trouble forming a fist, and
walking often becomes painful and difficult. Occasionally, there is also fusion
of bones in the upper and lower arm at the elbow joint (humeroradial fusion).
Less common features of tarsal-carpal coalition syndrome include short stature
or the development of hearing loss.
synonym-list db-key-list
Task-specific focal dystonia https://ghr.nlm.nih.gov/condition/task-specific-focal-dystonia Task-specific focal dystonia affects an estimated 7 to 69 per million html:p Task-specific focal dystonia is a movement disorder that interferes with the ad autosomal dominant synonym focal task-specific dystonia key 2017-12-29
特定任務肌張力不全 people in the general population. Musician's dystonia that is severe enough to performance of particular tasks, such as writing, playing a musical instrument, synonym FTSD db-key C1969807
impact performance occurs in about 1 percent of musicians. or participating in a sport. Dystonias are a group of movement problems synonym occupational cramp key
characterized by involuntary, sustained muscle contractions, tremors, and other synonym occupational dystonia db-key dystonia-ov
uncontrolled movements. The term "focal" refers to a type of dystonia that synonym task-specific dystonia key
affects a single part of the body, such as the hand or jaw. db-key D020821
html:p Researchers have described several forms of task-specific focal dystonia. The key
most common is writer's cramp, in which muscle cramps or spasms in the hand, db-key 611284
wrist, or forearm interfere with holding a pen or pencil. Writer's cramp begins key
in the hand used for writing (the dominant hand) and is usually limited to that db-key 1866
task, but with time it can spread to the other hand and affect other fine-motor key
activities such as shaving or typing. 230330004
html:p Musician's dystonia is a form of task-specific focal dystonia characterized by
muscle cramps and spasms that occur while playing a musical instrument. This
condition can affect amateur or professional musicians, and the location of the
dystonia depends on the instrument. Some musicians (such as piano, guitar, and
violin players) develop focal hand dystonia, which causes loss of fine-motor
control in the hand and wrist muscles. This condition reduces finger
coordination, speed, and endurance while playing. Musicians who play woodwind or
brass instruments can develop what is known as embouchure dystonia. This
condition causes muscle cramps or spasms involving the lips, tongue, or jaw,
which prevents normal positioning of the mouth around the instrument's
mouthpiece. Musician's dystonia often occurs only when playing a particular
instrument. However, over time focal hand dystonia may impair other activities,
and embouchure dystonia can worsen to affect eating and speech.
html:p Task-specific focal dystonia can affect people who play sports and engage in
other occupations involving repetitive, highly practiced movements. For example,
some golfers experience involuntary jerking of the wrists during putting, a
condition known informally as "the yips." Cramps and spasms of the hand and arm
muscles can also affect tennis players, billiards players, dart throwers, and
other athletes. Additionally, task-specific dystonia has been reported in
tailors, shoemakers, hair stylists, and people who frequently type or use a
computer mouse.
html:p The abnormal movements associated with task-specific focal dystonia are usually
painless, although they can cause anxiety when they interfere with musical
performance and other activities. Severe cases can cause professional
disability.
related-gene-list
Tay-Sachs disease https://ghr.nlm.nih.gov/condition/tay-sachs-disease Tay-Sachs disease is very rare in the general population. The genetic html:p Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve ar autosomal recessive HEXA https://ghr.nlm.nih.gov/gene/HEXA B variant GM2 gangliosidosis db key 2012-10 2017-12-29
Tay-Sachs 症 mutations that cause this disease are more common in people of Ashkenazi cells (neurons) in the brain and spinal cord. GM2 gangliosidosis, type 1 GTR C0039373
戴薩克斯症 (eastern and central European) Jewish heritage than in those with other html:p The most common form of Tay-Sachs disease becomes apparent in infancy. Infants HexA deficiency db key
backgrounds. The mutations responsible for this disease are also more common in with this disorder typically appear normal until the age of 3 to 6 months, when Hexosaminidase A deficiency GeneReviews tay-sachs
certain French-Canadian communities of Quebec, the Old Order Amish community in their development slows and muscles used for movement weaken. Affected infants Hexosaminidase alpha-subunit deficiency (variant B) db key
Pennsylvania, and the Cajun population of Louisiana. lose motor skills such as turning over, sitting, and crawling. They also develop Sphingolipidosis, Tay-Sachs ICD-10-CM E75.02
an exaggerated startle reaction to loud noises. As the disease progresses, TSD db key
children with Tay-Sachs disease experience seizures, vision and hearing loss, MeSH D013661
intellectual disability, and paralysis. An eye abnormality called a cherry-red db key
spot, which can be identified with an eye examination, is characteristic of this OMIM 272800
disorder. Children with this severe infantile form of Tay-Sachs disease usually db key
live only into early childhood. Orphanet 845
html:p Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in db key
childhood, adolescence, or adulthood and are usually milder than those seen SNOMED CT 111385000
with the infantile form. Characteristic features include muscle weakness, loss
of muscle coordination (ataxia) and other problems with movement, speech
problems, and mental illness. These signs and symptoms vary widely among people
with late-onset forms of Tay-Sachs disease.
related-gene-list
Tetra-amelia syndrome https://ghr.nlm.nih.gov/condition/tetra-amelia-syndrome Tetra-amelia syndrome has been reported in only a few families worldwide. html:p Tetra-amelia syndrome is a very rare disorder characterized by the absence of ar autosomal recessive WNT3 https://ghr.nlm.nih.gov/gene/WNT3 Tetra-amelia db key 2008-02 2017-12-29
先天性四肢切斷綜合症 all four limbs. ("Tetra" is the Greek word for "four," and "amelia" refers to Tetra-amelia, autosomal recessive GTR C2749279
the failure of an arm or leg to develop before birth.) This syndrome can also db key
cause severe malformations of other parts of the body, including the face and GeneReviews tetra-amelia
head, heart, nervous system, skeleton, and genitalia. The lungs are db key
underdeveloped in many cases, which makes breathing difficult or impossible. ICD-10-CM Q73.0
Because children with tetra-amelia syndrome have such serious medical problems, db key
most are stillborn or die shortly after birth. MeSH D000015
db key
MeSH D004480
db key
OMIM 273395
db key
Orphanet 3301
db key
related-gene-list SNOMED CT 702313004
Tetrahydrobiopterin deficiency https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency This condition is rare, affecting an estimated 1 in 500,000 to 1 in 1 html:p Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage ar autosomal recessive GCH1 https://ghr.nlm.nih.gov/gene/GCH1 BH4 deficiency db key 2011-07 2017-12-29
四氫生物蝶呤缺乏症 million newborns. In most parts of the world, tetrahydrobiopterin deficiency (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition related-gene gene-symbol ghr-page hyperphenylalaninemia caused by a defect in biopterin metabolism GTR C0268465
accounts for 1 to 3 percent of all cases of elevated phenylalanine levels. The alters the levels of several substances in the body, including phenylalanine. PCBD1 https://ghr.nlm.nih.gov/gene/PCBD1 hyperphenylalaninemia, non-phenylketonuric db key
remaining cases are caused by a similar condition called phenylketonuria (PKU). Phenylalanine is a building block of proteins (an amino acid) that is obtained related-gene gene-symbol ghr-page non-phenylketonuric hyperphenylalaninemia GTR C0268467
In certain countries, including Saudi Arabia, Taiwan, China, and Turkey, it is through the diet. It is found in foods that contain protein and in some PTS https://ghr.nlm.nih.gov/gene/PTS db key
more common for elevated levels of phenylalanine to be caused by artificial sweeteners. High levels of phenylalanine are present from early related-gene gene-symbol ghr-page GTR C0878676
tetrahydrobiopterin deficiency than by PKU. infancy in people with untreated tetrahydrobiopterin deficiency. This condition QDPR https://ghr.nlm.nih.gov/gene/QDPR db key
also alters the levels of chemicals called neurotransmitters, which transmit GTR C1849700
signals between nerve cells in the brain. db key
html:p Infants with tetrahydrobiopterin deficiency appear normal at birth, but medical ICD-10-CM E70.1
problems ranging from mild to severe become apparent over time. Signs and db key
symptoms of this condition can include intellectual disability, progressive MeSH D010661
problems with development, movement disorders, difficulty swallowing, seizures, db key
behavioral problems, and an inability to control body temperature. OMIM 233910
db key
OMIM 261630
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OMIM 261640
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OMIM 264070
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Orphanet 13
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Orphanet 226
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Orphanet 1578
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Orphanet 2102
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SNOMED CT 23447005
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SNOMED CT 237914002
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SNOMED CT 276261007
db key
SNOMED CT 45116002
db key
SNOMED CT 58256000
db key
related-gene-list SNOMED CT 68724006
Tetrasomy 18p https://ghr.nlm.nih.gov/condition/tetrasomy-18p Tetrasomy 18p is a rare disorder. It is known to affect about 250 families html:p Tetrasomy 18p is a chromosomal condition that affects many parts of the body. n not inherited 18 https://ghr.nlm.nih.gov/chromosome/18 18p isochromosome db key 2016-04 2017-12-29
四體性18p worldwide. This condition usually causes feeding difficulties in infancy, delayed 18p tetrasomy GTR C0795868
development, intellectual disability that is often mild to moderate but can be db key
severe, changes in muscle tone, distinctive facial features, and other birth MeSH D025063
defects. However, the signs and symptoms vary among affected individuals. db key
html:p Babies with tetrasomy 18p often have trouble feeding and may vomit frequently, Orphanet 3307
which makes it difficult for them to gain weight. Some affected infants also db key
have breathing problems and jaundice, which is a yellowing of the skin and the SNOMED CT 698849002
whites of the eyes.
html:p Changes in muscle tone are commonly seen with tetrasomy 18p. Some affected
children have weak muscle tone (hypotonia), while others have increased muscle
tone (hypertonia) and stiffness (spasticity). These changes contribute to
delayed development of motor skills, including sitting, crawling, and walking.
html:p Tetrasomy 18p is associated with a distinctive facial appearance that can
include unusually shaped and low-set ears, a small mouth, a flat area between
the upper lip and the nose (philtrum), and a thin upper lip. Many affected
individuals also have a high, arched roof of the mouth (palate), and a few have
had a split in the roof of the mouth (cleft palate).
html:p Additional features of tetrasomy 18p can include seizures, vision problems,
recurrent ear infections, mild to moderate hearing loss, constipation and other
gastrointestinal problems, abnormal curvature of the spine (scoliosis or
kyphosis), a shortage of growth hormone, and birth defects affecting the heart
and other organs. Males with tetrasomy 18p may be born with undescended testes
(cryptorchidism) or the opening of the urethra on the underside of the penis
(hypospadias). Psychiatric conditions, such as attention deficit hyperactivity
disorder (ADHD) and anxiety, as well as social and behavioral challenges have
also been reported in some people with tetrasomy 18p.
related-gene-list
Thanatophoric dysplasia, TD https://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia This condition occurs in 1 in 20,000 to 50,000 newborns. Type I html:p Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely ad autosomal dominant FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 Dwarf, thanatophoric db key 2012-10 2017-12-29
致死性畸胎 thanatophoric dysplasia is more common than type II. short limbs and folds of extra (redundant) skin on the arms and legs. Other thanatophoric dwarfism GTR C1300257
致死性畸胎侏儒症 features of this condition include a narrow chest, short ribs, underdeveloped thanatophoric short stature db key
致死性侏儒症 lungs, and an enlarged head with a large forehead and prominent, wide-spaced GTR C1868678
eyes. db key
html:p Researchers have described two major forms of thanatophoric dysplasia, type I GeneReviews td
and type II. Type I thanatophoric dysplasia is distinguished by the presence of db key
curved thigh bones and flattened bones of the spine (platyspondyly). Type II ICD-10-CM Q77.1
thanatophoric dysplasia is characterized by straight thigh bones and a moderate db key
to severe skull abnormality called a cloverleaf skull. MeSH D013796
html:p The term thanatophoric is Greek for "death bearing." Infants with thanatophoric db key
dysplasia are usually stillborn or die shortly after birth from respiratory OMIM 187600
failure; however, a few affected individuals have survived into childhood with db key
extensive medical help. OMIM 187601
db key
Orphanet 2655
db key
SNOMED CT 29352008
db key
related-gene-list SNOMED CT 389158007
Thiamine-responsive megaloblastic anemia syndrome https://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndr Thiamine-responsive megaloblastic anemia syndrome has been reported in html:p Thiamine-responsive megaloblastic anemia syndrome is a rare condition ar autosomal recessive SLC19A2 https://ghr.nlm.nih.gov/gene/SLC19A2 Rogers syndrome db key 2009-02 2017-12-29
ome approximately 30 families worldwide. Its prevalence is unknown. characterized by hearing loss, diabetes, and a blood disorder called Thiamine-responsive myelodysplasia GTR C0342287
megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number TRMA db key
of red blood cells (anemia), and the remaining red blood cells are larger than GeneReviews trma
normal (megaloblastic). The symptoms of this blood disorder may include db key
decreased appetite, lack of energy, headaches, pale skin, diarrhea, and tingling MeSH D000749
or numbness in the hands and feet. Individuals with thiamine-responsive db key
megaloblastic anemia syndrome begin to show symptoms of megaloblastic anemia OMIM 249270
between infancy and adolescence. This syndrome is called "thiamine-responsive" db key
because the anemia can be treated with high doses of vitamin B1 (thiamine). Orphanet 49827
html:p People with thiamine-responsive megaloblastic anemia syndrome develop hearing db key
loss caused by abnormalities of the inner ear (sensorineural hearing loss) SNOMED CT 237617006
during early childhood. It remains unclear whether thiamine treatment can
improve hearing or prevent hearing loss.
html:p Diabetes becomes apparent in affected individuals sometime between infancy and
adolescence. Although these individuals develop diabetes during childhood, they
do not have the form of the disease that develops most often in children, called
type 1 (autoimmune) diabetes. People with thiamine-responsive megaloblastic
anemia syndrome usually require insulin to treat their diabetes. In some cases,
treatment with thiamine can reduce the amount of insulin a person needs.
html:p Some individuals with thiamine-responsive megaloblastic anemia syndrome develop
optic atrophy, which is the degeneration (atrophy) of the nerves that carry
information from the eyes to the brain. Heart and blood vessel (cardiovascular)
problems such as heart rhythm abnormalities and heart defects have also been
reported in some people with this syndrome.
related-gene-list
Thiopurine S-methyltransferase deficiency, TPMT https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency Studies suggest that less than 1 percent of individuals in the general html:p Thiopurine S-methyltransferase (TPMT) deficiency is a condition characterized by ac autosomal codominant TPMT https://ghr.nlm.nih.gov/gene/TPMT poor metabolism of thiopurines db key 2015-04 2017-12-29
硫嘌呤甲基轉移酶 population have TPMT deficiency. Another 11 percent have moderately reduced significantly reduced activity of an enzyme that helps the body process drugs thiopurine methyltransferase deficiency GTR C0342801
(Drug resistance) levels of TPMT activity that increase their risk of hematopoietic toxicity with called thiopurines. These drugs, which include 6-thioguanine, 6-mercaptopurine, TPMT deficiency db key
thiopurine drug treatment. and azathioprine, inhibit (suppress) the body's immune system. Thiopurine drugs MeSH D004342
are used to treat some autoimmune disorders, including Crohn disease and db key
rheumatoid arthritis, which occur when the immune system malfunctions. These MeSH D011686
drugs are also used to treat several forms of cancer, particularly cancers of db key
blood-forming tissue (leukemias) and cancers of immune system cells (lymphomas). OMIM 610460
Additionally, thiopurine drugs are used in organ transplant recipients to help db key
prevent the immune system from attacking the transplanted organ. Orphanet 3315
html:p A potential complication of treatment with thiopurine drugs is damage to the db key
bone marrow (hematopoietic toxicity). Although this complication can occur in SNOMED CT 238012003
anyone who takes these drugs, people with TPMT deficiency are at highest risk.
Bone marrow normally makes several types of blood cells, including red blood
cells, which carry oxygen; white blood cells, which help protect the body from
infection; and platelets, which are blood cell fragments that are are involved
in blood clotting. Damage to the bone marrow results in myelosuppression, a
condition in which the bone marrow is unable to make enough of these cells. A
shortage of red blood cells (anemia) can cause pale skin (pallor), weakness,
shortness of breath, and extreme tiredness (fatigue). Low numbers of white blood
cells (neutropenia) can lead to frequent and potentially life-threatening
infections. A shortage of platelets (thrombocytopenia) can cause easy bruising
and bleeding.
html:p Many healthcare providers recommend that patients' TPMT activity levels be
tested before thiopurine drugs are prescribed. In people who are found to have
reduced enzyme activity, the drugs may be given at a significantly lower dose or
different medications can be used to reduce the risk of hematopoietic toxicity.
html:p TPMT deficiency does not appear to cause any health problems other than those
associated with thiopurine drug treatment.
related-gene-list
Thrombocytopenia-absent radius syndrome https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome TAR syndrome is a rare disorder, affecting fewer than 1 in 100,000 html:p Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of ar autosomal recessive RBM8A https://ghr.nlm.nih.gov/gene/RBM8A chromosome 1q21.1 deletion syndrome, 200-KB db key 2017-02 2017-12-29
newborns. a bone called the radius in each forearm and a shortage (deficiency) of blood related-chromosome name ghr-page radial aplasia-amegakaryocytic thrombocytopenia GTR C0175703
cell fragments involved in clotting (platelets). This platelet deficiency 1 https://ghr.nlm.nih.gov/chromosome/1 radial aplasia-thrombocytopenia syndrome db key
(thrombocytopenia) usually appears during infancy and becomes less severe over TAR syndrome GeneReviews tar
time; in some cases the platelet levels become normal. thrombocytopenia absent radii db key
html:p Thrombocytopenia prevents normal blood clotting, resulting in easy bruising and MeSH D038062
frequent nosebleeds. Potentially life-threatening episodes of severe bleeding db key
(hemorrhages) may occur in the brain and other organs, especially during the OMIM 274000
first year of life. Hemorrhages can damage the brain and lead to intellectual db key
disability. Affected children who survive this period and do not have damaging Orphanet 3320
hemorrhages in the brain usually have a normal life expectancy and normal db key
intellectual development. SNOMED CT 85589009
html:p The severity of skeletal problems in TAR syndrome varies among affected
individuals. The radius, which is the bone on the thumb side of the forearm, is
almost always missing in both arms. The other bone in the forearm, which is
called the ulna, is sometimes underdeveloped or absent in one or both arms. TAR
syndrome is unusual among similar malformations in that affected individuals
have thumbs, while people with other conditions involving an absent radius
typically do not. However, there may be other abnormalities of the hands, such
as webbed or fused fingers (syndactyly) or curved pinky fingers (fifth finger
clinodactyly). Some people with TAR syndrome also have skeletal abnormalities
affecting the upper arms, legs, or hip sockets.
html:p Other features that can occur in TAR syndrome include malformations of the heart
or kidneys. Some people with this disorder have unusual facial features
including a small lower jaw (micrognathia), a prominent forehead, and low-set
ears. About half of affected individuals have allergic reactions to cow's milk
that may worsen the thrombocytopenia associated with this disorder.
related-gene-list
Thrombotic thrombocytopenic purpura https://ghr.nlm.nih.gov/condition/thrombotic-thrombocytopenic-purpura The precise incidence of thrombotic thrombocytopenic purpura is unknown. html:p Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots ar autosomal recessive ADAMTS13 https://ghr.nlm.nih.gov/gene/ADAMTS13 Familial Thrombotic Thrombocytopenia Purpura db key 2008-10 2017-12-29
血栓性血小板减少性紫癜 Researchers estimate that, depending on geographic location, the condition (thrombi) to form in small blood vessels throughout the body. These clots can Microangiopathic hemolytic anemia GTR C1268935
affects 1.7 to 11 per million people each year in the United States. For cause serious medical problems if they block vessels and restrict blood flow to Moschkowitz Disease db key
unknown reasons, the disorder occurs more frequently in women than in men. The organs such as the brain, kidneys, and heart. Resulting complications can Purpura, Thrombotic Thrombocytopenic ICD-10-CM D69.42
acquired form of thrombotic thrombocytopenic purpura is much more common than include neurological problems (such as personality changes, headaches, Thrombotic microangiopathy, familial db key
the familial form. confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, TTP MeSH D011697
and heart problems. db key
html:p Blood clots normally form to prevent excess blood loss at the site of an injury. OMIM 274150
In people with thrombotic thrombocytopenic purpura, clots develop in blood db key
vessels even in the absence of injury. Blood clots are formed from clumps of Orphanet 54057
cell fragments called platelets, which circulate in the blood and assist with db key
clotting. Because a large number of platelets are used to make clots in people SNOMED CT 373420004
with thrombotic thrombocytopenic purpura, fewer platelets are available in the db key
bloodstream. A reduced level of circulating platelets is known as SNOMED CT 78129009
thrombocytopenia. Thrombocytopenia can lead to small areas of bleeding just
under the surface of the skin, resulting in purplish spots called purpura.
html:p This disorder also causes red blood cells to break down (undergo hemolysis)
prematurely. As blood squeezes past clots within blood vessels, red blood cells
can break apart. A condition called hemolytic anemia occurs when red blood cells
are destroyed faster than the body can replace them. This type of anemia leads
to paleness, yellowing of the eyes and skin (jaundice), fatigue, shortness of
breath, and a rapid heart rate.
html:p There are two major forms of thrombotic thrombocytopenic purpura, an acquired
(noninherited) form and a familial form. The acquired form usually appears in
late childhood or adulthood. Affected individuals may have a single episode of
signs and symptoms, or they may recur over time. The familial form of this
disorder is much rarer and typically appears in infancy or early childhood. In
people with the familial form, signs and symptoms often recur on a regular
basis.
related-gene-list
Tibial muscular dystrophy https://ghr.nlm.nih.gov/condition/tibial-muscular-dystrophy Tibial muscular dystrophy is most common in Finland, where it is estimated html:p Tibial muscular dystrophy is a condition that affects the muscles at the front ad autosomal dominant TTN https://ghr.nlm.nih.gov/gene/TTN tardive tibial muscular dystrophy db key 2012-02 2017-12-29
to affect at least 10 per 100,000 people. This condition has also been found in of the lower leg. The signs and symptoms of this condition typically appear TMD GTR C1838244
people of Finnish descent living in other countries.Additionally, tibial after age 35. The first sign is usually weakness and wasting (atrophy) of a Udd distal myopathy db key
muscular dystrophy has been identified in several European families without muscle in the lower leg called the tibialis anterior. This muscle helps control Udd-Markesbery muscular dystrophy GeneReviews udd
Finnish ancestry. up-and-down movement of the foot. Weakness in the tibialis anterior muscle makes Udd myopathy db key
it difficult or impossible to walk on the heels, but it usually does not MeSH D049310
interfere significantly with regular walking. db key
html:p Muscle weakness worsens very slowly in people with tibial muscular dystrophy. OMIM 600334
Ten to 20 years after the onset of symptoms, weakness may develop in muscles db key
that help extend the toes (long-toe extensors). Weakness in these muscles makes Orphanet 609
it difficult to lift the toes while walking, a condition known as foot drop. db key
Later in life, about one third of people with tibial muscular dystrophy SNOMED CT 698846009
experience mild to moderate difficulty with walking because of weakness in other
leg muscles. However, most affected individuals remain able to walk throughout
their lives.
html:p A small percentage of people with tibial muscular dystrophy have a somewhat
different pattern of signs and symptoms than those described above. Starting in
childhood, these individuals may have generalized muscle weakness, weakness and
atrophy of the thigh muscles (quadriceps) or other muscles in the legs, and
weakness affecting muscles in the arms.
Tietz syndrome https://ghr.nlm.nih.gov/condition/tietz-syndrome Tietz syndrome is a rare disorder; its exact prevalence is unknown. Only a html:p Tietz syndrome is a disorder characterized by profound hearing loss from birth, ad autosomal dominant MITF https://ghr.nlm.nih.gov/gene/MITF albinism and complete nerve deafness db key 2015-12 2017-12-29
鐵齒症侯群 few affected families have been described in the medical literature. fair skin, and light-colored hair. The hearing loss in affected individuals is albinism-deafness of Tietz GTR C0391816
痛性非化脓性肋软骨肿胀 caused by abnormalities of the inner ear (sensorineural hearing loss) and is hypopigmentation-deafness syndrome db key
present from birth. Although people with Tietz syndrome are born with white hair hypopigmentation/deafness of Tietz MeSH D017496
and very pale skin, their hair color often darkens over time to blond or red. Tietz albinism-deafness syndrome db key
The skin of affected individuals, which sunburns very easily, may tan slightly Tietz's syndrome OMIM 103500
or develop reddish freckles with limited sun exposure; however, their skin and db key
hair color remain lighter than those of other members of their family. Orphanet 42665
html:p Tietz syndrome also affects the eyes. The colored part of the eye (the iris) in db key
affected individuals is blue, and specialized cells in the eye called retinal SNOMED CT 403805009
pigment epithelial cells lack their normal pigment. The retinal pigment
epithelium nourishes the retina, the part of the eye that detects light and
color. The changes to the retinal pigment epithelium are generally detectable
only by an eye examination; it is unclear whether the changes affect vision.
related-gene-list
Timothy syndrome https://ghr.nlm.nih.gov/condition/timothy-syndrome Timothy syndrome is a rare condition; fewer than 20 people with this html:p Timothy syndrome is a rare disorder that affects many parts of the body ad autosomal dominant CACNA1C https://ghr.nlm.nih.gov/gene/CACNA1C Long QT syndrome with syndactyly db key 2008-01 2017-12-29
disorder have been reported worldwide. The classic type of Timothy syndrome including the heart, digits (fingers and toes), and the nervous system. LQT8 GTR C1832916
appears to be more common than the atypical type, which has been identified in html:p Timothy syndrome is characterized by a heart condition called long QT syndrome, TS db key
only two individuals. which causes the heart (cardiac) muscle to take longer than usual to recharge GeneReviews timothy
between beats. This abnormality in the heart's electrical system can cause db key
irregular heartbeats (arrhythmia), which can lead to sudden death. Many people MeSH D000015
with Timothy syndrome are also born with structural heart defects that affect db key
the heart's ability to pump blood effectively. As a result of these serious MeSH D008133
heart problems, many people with Timothy syndrome live only into childhood. The db key
most common cause of death is a form of arrhythmia called ventricular MeSH D013576
tachyarrhythmia, in which the lower chambers of the heart (the ventricles) beat db key
abnormally fast and lead to cardiac arrest. OMIM 601005
html:p Timothy syndrome is also characterized by webbing or fusion of the skin between db key
some fingers or toes (cutaneous syndactyly). About half of affected people have Orphanet 65283
distinctive facial features such as a flattened nasal bridge, low-set ears, a db key
small upper jaw, and a thin upper lip. Children with this condition have small, SNOMED CT 699256006
misplaced teeth and frequent cavities (dental caries). Additional signs and db key
symptoms of Timothy syndrome can include baldness at birth, frequent infections, SNOMED CT 719907006
episodes of low blood sugar (hypoglycemia), and an abnormally low body
temperature (hypothermia).
html:p Researchers have found that many children with Timothy syndrome have the
characteristic features of autism or similar conditions known as autistic
spectrum disorders. Affected children tend to have impaired communication and
socialization skills, as well as delayed development of speech and language.
Other nervous system abnormalities, including intellectual disability and
seizures, can also occur in children with Timothy syndrome.
html:p Researchers have identified two forms of Timothy syndrome. Type 1, which is
also known as the classic type, includes all of the characteristic features
described above. Type 2, or the atypical type, causes a more severe form of long
QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the
classic type, the atypical type does not appear to cause webbing of the fingers
or toes.
inheritance-pattern-list related-gene-list
TK2-related mitochondrial DNA depletion syndrome, myopathic form https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndro The prevalence of TK2-MDS is unknown. Approximately 45 cases have been html:p html:i -MDS) is an inherited condition that causes progressive muscle weakness ar autosomal recessive ghr-page mitochondrial DNA depletion syndrome 2 (myopathic type) db-key db key 2013-09 2017-12-29
me-myopathic-form described. TK2 (myopathy). https://ghr.nlm.nih.gov/gene/TK2 MTDPS2 GTR C3149750
html:p The signs and symptoms of TK2-MDS typically begin in early childhood. Development TK2-related mitochondrial DNA depletion myopathy db-key db key
is usually normal early in life, but as muscle weakness progresses, people with TK2-MDS GeneReviews tk2-mtddepl
lose motor skills such as standing, walking, eating, and talking. db-key db key
MeSH D017240
html:p html:i db-key db key
TK2 OMIM 609560
db-key db key
Orphanet 254875
html:p As the disorder worsens, the muscles that control breathing become weakened and db-key db key
affected individuals frequently have to rely on mechanical ventilation. SNOMED CT 703527003
Respiratory failure is the most common cause of death in people with TK2-MDS, often occurring
in childhood. Rarely, the disorder progresses slowly and affected individuals survive into adolescence or adulthood.
related-gene-list
Tourette syndrome https://ghr.nlm.nih.gov/condition/tourette-syndrome Although the exact incidence of Tourette syndrome is uncertain, it is html:p Tourette syndrome is a complex disorder characterized by repetitive, sudden, and u pattern unknown SLITRK1 https://ghr.nlm.nih.gov/gene/SLITRK1 Chronic Motor and Vocal Tic Disorder db key 2013-05 2017-12-29
妥瑞症 estimated to affect 1 to 10 in 1,000 children. This disorder occurs in involuntary movements or noises called tics. Tics usually appear in childhood, Gilles de la Tourette Syndrome GTR C0040517
抽动症 populations and ethnic groups worldwide, and it is more common in males than in and their severity varies over time. In most cases, tics become milder and Gilles de la Tourette's syndrome db key
females. less frequent in late adolescence and adulthood. GTS ICD-10-CM F95.2
html:p Tourette syndrome involves both motor tics, which are uncontrolled body TD db key
movements, and vocal or phonic tics, which are outbursts of sound. Some motor Tourette Disorder MeSH D005879
tics are simple and involve only one muscle group. Simple motor tics, such as Tourette's Disease db key
rapid eye blinking, shoulder shrugging, or nose twitching, are usually the first TS OMIM 137580
signs of Tourette syndrome. Motor tics also can be complex (involving multiple db key
muscle groups), such as jumping, kicking, hopping, or spinning. Orphanet 856
html:p Vocal tics, which generally appear later than motor tics, also can be simple or db key
complex. Simple vocal tics include grunting, sniffing, and throat-clearing. SNOMED CT 5158005
More complex vocalizations include repeating the words of others (echolalia) or
repeating one's own words (palilalia). The involuntary use of inappropriate or
obscene language (coprolalia) is possible, but uncommon, among people with
Tourette syndrome.
html:p In addition to frequent tics, people with Tourette syndrome are at risk for
associated problems including attention deficit hyperactivity disorder (ADHD),
obsessive-compulsive disorder (OCD), anxiety, depression, and problems with
sleep.
related-gene-list
Townes-Brocks Syndrome https://ghr.nlm.nih.gov/condition/townes-brocks-syndrome The prevalence of this condition is unknown, although one study estimated html:p Townes-Brocks syndrome is a genetic condition that affects several parts of the ad autosomal dominant SALL1 https://ghr.nlm.nih.gov/gene/SALL1 anal-ear-renal-radial malformation syndrome db key 2007-10 2017-12-29
that it may affect 1 in 250,000 people. It is difficult to determine how body. The most common features of this condition are an obstruction of the deafness-imperforate anus-hypoplastic thumbs syndrome GTR C0265246
frequently Townes-Brocks syndrome occurs because the varied signs and symptoms anal opening (imperforate anus), abnormally shaped ears, and hand malformations imperforate anus-hand and foot anomalies syndrome db key
of this disorder overlap with those of other genetic syndromes. that most often affect the thumb. Most people with this condition have at least renal-ear-anal-radial syndrome (REAR) GeneReviews tbs
two of these three major features. sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome db key
html:p Other possible signs and symptoms of Townes-Brocks syndrome include kidney Townes syndrome MeSH D000015
abnormalities, mild to profound hearing loss, heart defects, and genital db key
malformations. These features vary among affected individuals, even within the MeSH D001006
same family. Intellectual disability or learning problems have also been db key
reported in about 10 percent of people with Townes-Brocks syndrome. OMIM 107480
db key
Orphanet 857
db key
related-gene-list SNOMED CT 24750000
Transcobalamin deficiency https://ghr.nlm.nih.gov/condition/transcobalamin-deficiency The prevalence of transcobalamin deficiency is unknown. At least 45 html:p Transcobalamin deficiency is a disorder that impairs the transport of cobalamin ar autosomal recessive TCN2 https://ghr.nlm.nih.gov/gene/TCN2 TC deficiency db key 2014-10 2017-12-29
affected individuals have been described in the medical literature. (also known as vitamin B12) within the body. Cobalamin is obtained from the TC II deficiency GTR C0342701
diet; this vitamin is found in animal products such as meat, eggs, and TCN2 deficiency db key
shellfish. An inability to transport cobalamin within the body results in cells transcobalamin II deficiency ICD-10-CM D51.2
that lack cobalamin, which they need for many functions including cell growth db key
and division (proliferation) and DNA production. The absence of cobalamin leads MeSH D008661
to impaired growth, a shortage of blood cells, and many other signs and symptoms db key
that usually become apparent within the first weeks or months of life. OMIM 275350
html:p The first signs of transcobalamin deficiency are typically a failure to gain db key
weight and grow at the expected rate (failure to thrive), vomiting, diarrhea, Orphanet 859
and open sores (ulcers) on the mucous membranes such as the lining inside the db key
mouth. Neurological function is impaired in affected individuals, and they can SNOMED CT 237934001
experience progressive stiffness and weakness in their legs (paraparesis),
muscle twitches (myoclonus), or intellectual disability.
html:p People with transcobalamin deficiency often develop a blood disorder called
megaloblastic anemia. Megaloblastic anemia results in a shortage of red blood
cells, and the remaining red blood cells are abnormally large. Individuals with
transcobalamin deficiency may also have a shortage of white blood cells
(neutropenia), which can lead to reduced immune system function. Decreased
cellular cobalamin can lead to a buildup of certain compounds in the body,
resulting in metabolic conditions known as methylmalonic aciduria or
homocystinuria.
related-gene-list
Transthyretin amyloidosis https://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis The exact incidence of transthyretin amyloidosis is unknown. In northern html:p Transthyretin amyloidosis is a slowly progressive condition characterized by the ad autosomal dominant TTR https://ghr.nlm.nih.gov/gene/TTR Portuguese polyneuritic amyloidosis db key 2009-01 2017-12-29
transthyretin引起的澱粉樣變 Portugal, the incidence of this condition is thought to be one in 538 people. buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the Portuguese type familial amyloid neuropathy GTR C2751492
Transthyretin amyloidosis is less common among Americans of European descent, body's organs and tissues. These protein deposits most frequently occur in the Swiss type amyloid polyneuropathy db key
where it is estimated to affect one in 100,000 people. The cardiac form of peripheral nervous system, which is made up of nerves connecting the brain and type I familial amyloid polyneuropathy GeneReviews tfap
transthyretin amyloidosis is more common among people with African ancestry. It spinal cord to muscles and sensory cells that detect sensations such as touch, type II familial amyloid polyneuropathy db key
is estimated that this form affects between 3 percent and 3.9 percent of African pain, heat, and sound. Protein deposits in these nerves result in a loss of ICD-10-CM E85.1
Americans and approximately 5 percent of people in some areas of West Africa. sensation in the extremities (peripheral neuropathy). The autonomic nervous db key
system, which controls involuntary body functions such as blood pressure, heart MeSH D028227
rate, and digestion, may also be affected by amyloidosis. In some cases, the db key
brain and spinal cord (central nervous system) are affected. Other areas of Orphanet 85447
amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The db key
age at which symptoms begin to develop varies widely among individuals with this SNOMED CT 398229007
condition, and is typically between ages 20 and 70. db key
html:p There are three major forms of transthyretin amyloidosis, which are SNOMED CT 4463009
distinguished by their symptoms and the body systems they affect.
html:p The neuropathic form of transthyretin amyloidosis primarily affects the
peripheral and autonomic nervous systems, resulting in peripheral neuropathy and
difficulty controlling bodily functions. Impairments in bodily functions can
include sexual impotence, diarrhea, constipation, problems with urination, and a
sharp drop in blood pressure upon standing (orthostatic hypotension). Some
people experience heart and kidney problems as well. Various eye problems may
occur, such as cloudiness of the clear gel that fills the eyeball (vitreous
opacity), dry eyes, increased pressure in the eyes (glaucoma), or pupils with an
irregular or "scalloped" appearance. Some people with this form of
transthyretin amyloidosis develop carpal tunnel syndrome, which is characterized
by numbness, tingling, and weakness in the hands and fingers.
html:p The leptomeningeal form of transthyretin amyloidosis primarily affects the
central nervous system. In people with this form, amyloidosis occurs in the
leptomeninges, which are two thin layers of tissue that cover the brain and
spinal cord. A buildup of protein in this tissue can cause stroke and bleeding
in the brain, an accumulation of fluid in the brain (hydrocephalus), difficulty
coordinating movements (ataxia), muscle stiffness and weakness (spastic
paralysis), seizures, and loss of intellectual function (dementia). Eye
problems similar to those in the neuropathic form may also occur. When people
with leptomeningeal transthyretin amyloidosis have associated eye problems, they
are said to have the oculoleptomeningeal form.
html:p The cardiac form of transthyretin amyloidosis affects the heart. People with
cardiac amyloidosis may have an abnormal heartbeat (arrhythmia), an enlarged
heart (cardiomegaly), or orthostatic hypertension. These abnormalities can lead
to progressive heart failure and death. Occasionally, people with the cardiac
form of transthyretin amyloidosis have mild peripheral neuropathy.
related-gene-list
Treacher Collins syndrome https://ghr.nlm.nih.gov/condition/treacher-collins-syndrome This condition affects an estimated 1 in 50,000 people. html:p Treacher Collins syndrome is a condition that affects the development of bones ad autosomal dominant POLR1C https://ghr.nlm.nih.gov/gene/POLR1C Franceschetti-Zwahlen-Klein syndrome db key 2012-06 2017-12-29
Treacher Collins 症候群 and other tissues of the face. The signs and symptoms of this disorder vary related-gene gene-symbol ghr-page mandibulofacial dysostosis (MFD1) GTR C0242387
greatly, ranging from almost unnoticeable to severe. Most affected individuals POLR1D https://ghr.nlm.nih.gov/gene/POLR1D Treacher Collins-Franceschetti syndrome db key
have underdeveloped facial bones, particularly the cheek bones, and a very small related-gene gene-symbol ghr-page zygoauromandibular dysplasia GTR C1855433
jaw and chin (micrognathia). Some people with this condition are also born with TCOF1 https://ghr.nlm.nih.gov/gene/TCOF1 db key
an opening in the roof of the mouth called a cleft palate. In severe cases, GTR C3150983
underdevelopment of the facial bones may restrict an affected infant's airway, db key
causing potentially life-threatening respiratory problems. GTR CN119605
html:p People with Treacher Collins syndrome often have eyes that slant downward, db key
sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. GeneReviews tcs
Some affected individuals have additional eye abnormalities that can lead to db key
vision loss. This condition is also characterized by absent, small, or unusually ICD-10-CM Q75.4
formed ears. Hearing loss occurs in about half of all affected individuals; db key
hearing loss is caused by defects of the three small bones in the middle ear, MeSH D008342
which transmit sound, or by underdevelopment of the ear canal. People with db key
Treacher Collins syndrome usually have normal intelligence. OMIM 154500
db key
OMIM 248390
db key
OMIM 613717
db key
Orphanet 861
db key
related-gene-list SNOMED CT 82203000
Trichohepatoenteric syndrome https://ghr.nlm.nih.gov/condition/trichohepatoenteric-syndrome Trichohepatoenteric syndrome is a rare condition with an estimated html:p Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), ar autosomal recessive SKIV2L https://ghr.nlm.nih.gov/gene/SKIV2L diarrhea, fatal infantile, with trichorrhexis nodosa db key 2014-03 2017-12-29
发-肝-肠综合症 prevalence of about 1 in 1 million people. At least 44 cases have been reported liver (hepato-), and intestines (enteric), as well as other tissues and organs related-gene gene-symbol ghr-page diarrhea, syndromic GTR C1857276
髮－肝－腸症候群 in the medical literature. in the body. This condition is also known as syndromic diarrhea because chronic, TTC37 https://ghr.nlm.nih.gov/gene/TTC37 intractable diarrhea with phenotypic anomalies db key
difficult-to-treat diarrhea is one of its major features. Within the first few phenotypic diarrhea of infancy GTR C3281289
weeks of life, affected infants develop watery diarrhea that occurs multiple SD/THE db key
times per day. Even with nutritional support through intravenous feedings syndromic diarrhea MeSH D003968
(parenteral nutrition), many of these children experience failure to thrive, THE syndrome db key
which means they do not gain weight or grow at the expected rate. Most children THES OMIM 222470
with trichohepatoenteric syndrome are small at birth, and they remain shorter tricho-hepato-enteric syndrome db key
than their peers throughout life. OMIM 614602
html:p Abnormal hair is another feature of trichohepatoenteric syndrome. Hair in db key
affected individuals is described as wooly, brittle, patchy, and easily pulled Orphanet 84064
out. Under a microscope, some strands of hair can be seen to vary in diameter, db key
with thicker and thinner spots. This feature is known as trichorrhexis nodosa. SNOMED CT 703406006
html:p Other signs and symptoms of trichohepatoenteric syndrome can include liver
disease; skin abnormalities; and distinctive facial features, including a wide
forehead, a broad base of the nose, and widely spaced eyes. Overall, the facial
features are described as "coarse." Most affected individuals also experience
immune system abnormalities that can make them prone to developing infections.
Less commonly, trichohepatoenteric syndrome is associated with heart (cardiac)
abnormalities. Mild intellectual disability has been reported in at least half
of all children with the condition.
html:p Trichohepatoenteric syndrome is often life-threatening in childhood,
particularly in children who develop liver disease or severe infections.
related-gene-list
Trichorhinophalangeal syndrome type I https://ghr.nlm.nih.gov/condition/trichorhinophalangeal-syndrome-type-i TRPS I is a rare condition; its prevalence is unknown. In the Netherlands, html:p Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone ad autosomal dominant TRPS1 https://ghr.nlm.nih.gov/gene/TRPS1 trichorhinophalangeal dysplasia type I db key 2017-06 2017-12-29
at least 35 people have TRPS I. and joint malformations; distinctive facial features; and abnormalities of the TRP syndrome GTR C0432233
skin, hair, teeth, sweat glands, and nails. The name of the condition describes TRPS I db key
some of the areas of the body that are commonly affected: hair (tricho-), nose TRPS1 GeneReviews tps
(rhino-), and fingers and toes (phalangeal). db key
html:p In people with TRPS I, the ends (epiphyses) of one or more bones in the fingers MeSH D015826
or toes are abnormally cone-shaped. Additionally, the fingernails and toenails db key
are typically thin and abnormally formed. Affected individuals often have short OMIM 190350
feet. db key
html:p Individuals with TRPS I may have a misalignment of the hip joints (hip Orphanet 324764
dysplasia), which often develops in early adulthood but can occur in infancy or db key
childhood. Children with TRPS I often have an unusually large range of movement SNOMED CT 254091006
(hypermobility) in many of their joints. Over time, however, the joints may
break down (degenerate), leading to joint pain and a limited range of joint
movement.
html:p The characteristic appearance of individuals with TRPS I involves thick
eyebrows; a broad nose with a rounded tip; large ears, a long, smooth area
between the nose and the upper lip (philtrum); a thin upper lip; and small teeth
that are either decreased (oligodontia) or increased (supernumerary) in number.
Almost all affected individuals have sparse scalp hair. Males are particularly
affected by hair loss with many being nearly or completely bald soon after
puberty. Some children with this condition have loose skin, but the skin becomes
tighter over time. Individuals with TRPS I may experience excessive sweating
(hyperhidrosis).
related-gene-list
Trichorhinophalangeal syndrome type II https://ghr.nlm.nih.gov/condition/trichorhinophalangeal-syndrome-type-ii TRPS II is a rare condition; its prevalence is unknown. html:p Trichorhinophalangeal syndrome type II (TRPS II) is a condition that causes bone ad autosomal dominant EXT1 https://ghr.nlm.nih.gov/gene/EXT1 chromosome 8q24.1 deletion syndrome db key 2017-06 2017-12-29
and joint malformations; distinctive facial features; intellectual disability; related-gene gene-symbol ghr-page Giedion-Langer syndrome GTR C0023003
and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of RAD21 https://ghr.nlm.nih.gov/gene/RAD21 Langer-Giedion syndrome db key
the condition describes some of the areas of the body that are commonly related-gene gene-symbol ghr-page LGS GeneReviews tps
affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal). TRPS1 https://ghr.nlm.nih.gov/gene/TRPS1 tricho-rhino-phalangeal syndrome type II db key
html:p People with this condition have multiple noncancerous (benign) bone tumors related-chromosome name ghr-page trichorhinophalangeal syndrome with exostosis MeSH D015826
called osteochondromas. Affected individuals may develop a few to several 8 https://ghr.nlm.nih.gov/chromosome/8 TRPS II db key
hundred osteochondromas. These bone growths typically begin in infancy to early TRPS2 OMIM 150230
childhood and stop forming around adolescence. Depending on the location of the db key
osteochondromas, they can cause pain, limited range of joint movement, or damage Orphanet 502
to blood vessels or the spinal cord. Individuals with TRPS II may have reduced db key
bone mineral density (osteopenia). Affected individuals often have slow growth SNOMED CT 41069008
before and after birth resulting in short stature. In TRPS II, the ends
(epiphyses) of one or more bones in the fingers or toes are abnormally
cone-shaped. Additionally, the fingernails and toenails are typically thin and
abnormally formed.
html:p Children with TRPS II often have an unusually large range of joint movement
(hypermobility). However, as osteochondromas begin to develop, typically
starting between infancy and mid-childhood, the joints begin to stiffen, leading
to decreased mobility. Individuals with TRPS II may also have a misalignment of
the hip joints (hip dysplasia), which often develops in early adulthood but can
occur in infancy or childhood.
html:p The characteristic appearance of individuals with TRPS II involves thick
eyebrows; a broad nose with a rounded tip; a long, smooth area between the nose
and the upper lip (philtrum); a thin upper lip; and small teeth that are either
decreased (oligodontia) or increased (supernumerary) in number. Almost all
affected individuals have sparse scalp hair. Males are particularly affected by
hair loss, with many being nearly or completely bald soon after puberty. Some
children with this condition have loose skin, but the skin becomes tighter over
time. Individuals with TRPS II may experience excessive sweating
(hyperhidrosis).
html:p Most individuals with TRPS II have mild intellectual disability.
related-gene-list
Trichothiodystrophy https://ghr.nlm.nih.gov/condition/trichothiodystrophy Trichothiodystrophy has an estimated incidence of about 1 in 1 million html:p Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition ar autosomal recessive ERCC2 https://ghr.nlm.nih.gov/gene/ERCC2 Amish brittle hair syndrome db key 2010-05 2017-12-29
毛髮缺硫性失養 newborns in the United States and Europe. About 100 affected individuals have that affects many parts of the body. The hallmark of this condition is brittle related-gene gene-symbol ghr-page BIDS syndrome GTR C0740342
been reported worldwide. hair that is sparse and easily broken. Tests show that the hair is lacking ERCC3 https://ghr.nlm.nih.gov/gene/ERCC3 brittle hair-intellectual impairment-decreased fertility-short stature syndrome db key
sulfur, an element that normally gives hair its strength. related-gene gene-symbol ghr-page IBIDS GTR C1866504
html:p The signs and symptoms of trichothiodystrophy vary widely. Mild cases may GTF2H5 https://ghr.nlm.nih.gov/gene/GTF2H5 PIBIDS db key
involve only the hair. More severe cases also cause delayed development, related-gene gene-symbol ghr-page TTD GTR C1961117
significant intellectual disability, and recurrent infections; severely affected MPLKIP https://ghr.nlm.nih.gov/gene/MPLKIP db key
individuals may survive only into infancy or early childhood. MeSH D054463
html:p Mothers of children with trichothiodystrophy may experience problems during db key
pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a OMIM 234050
related condition called HELLP syndrome that can damage the liver. Babies with db key
trichothiodystrophy are at increased risk of premature birth, low birth weight, OMIM 601675
and slow growth. db key
html:p Most affected children have short stature compared to others their age. Orphanet 33364
Intellectual disability and delayed development are common, although most db key
affected individuals are highly social with an outgoing and engaging SNOMED CT 254128006
personality. Some have brain abnormalities that can be seen with imaging tests. db key
Trichothiodystrophy is also associated with recurrent infections, particularly SNOMED CT 403796005
respiratory infections, which can be life-threatening. Other features of
trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of
the fingernails and toenails; clouding of the lens in both eyes from birth
(congenital cataracts); poor coordination; and skeletal abnormalities.
html:p About half of all people with trichothiodystrophy have a photosensitive form of
the disorder, which causes them to be extremely sensitive to ultraviolet (UV)
rays from sunlight. They develop a severe sunburn after spending just a few
minutes in the sun. However, for reasons that are unclear, they do not develop
other sun-related problems such as excessive freckling of the skin or an
increased risk of skin cancer. Many people with trichothiodystrophy report that
they do not sweat.
related-gene-list
Trimethylaminuria https://ghr.nlm.nih.gov/condition/trimethylaminuria Trimethylaminuria is an uncommon genetic disorder; its incidence is html:p Trimethylaminuria is a disorder in which the body is unable to break down ad autosomal dominant FMO3 https://ghr.nlm.nih.gov/gene/FMO3 fish malodor syndrome db key 2013-01 2017-12-29
臭魚症 unknown. trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has fish odor syndrome GTR C0342739
魚腥味綜合徵 been described as smelling like rotting fish, rotting eggs, garbage, or urine. stale fish syndrome db key
(Metabolic) As this compound builds up in the body, it causes affected people to give off a TMAU GeneReviews trimethylaminuria
(Odor) strong odor in their sweat, urine, and breath. The intensity of the odor may TMAuria db key
vary over time. The odor can interfere with many aspects of daily life, ICD-10-CM E72.52
Interesting affecting a person's relationships, social life, and career. Some people with db key
trimethylaminuria experience depression and social isolation as a result of this MeSH D008661
condition. db key
OMIM 602079
db key
Orphanet 35056
db key
related-gene-list SNOMED CT 237959005
Triosephosphate isomerase deficiency https://ghr.nlm.nih.gov/condition/triosephosphate-isomerase-deficiency Triosephosphate isomerase deficiency is likely a rare condition; html:p Triosephosphate isomerase deficiency is a disorder characterized by a shortage ar autosomal recessive TPI1 https://ghr.nlm.nih.gov/gene/TPI1 deficiency of phosphotriose isomerase db key 2014-08 2017-12-29
磷酸丙糖異構酶缺乏症 approximately 40 cases have been reported in the scientific literature. of red blood cells (anemia), movement problems, increased susceptibility to hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase GTR C1860808
infection, and muscle weakness that can affect breathing and heart function. deficiency db key
html:p The anemia in this condition begins in infancy. Since the anemia results from TPI deficiency ICD-10-CM D55.2
the premature breakdown of red blood cells (hemolysis), it is known as hemolytic TPID db key
anemia. A shortage of red blood cells to carry oxygen throughout the body leads triose phosphate isomerase deficiency MeSH D002239
to extreme tiredness (fatigue), pale skin (pallor), and shortness of breath. db key
When the red cells are broken down, iron and a molecule called bilirubin are OMIM 615512
released; individuals with triosephosphate isomerase deficiency have an excess db key
of these substances circulating in the blood. Excess bilirubin in the blood Orphanet 868
causes jaundice, which is a yellowing of the skin and the whites of the eyes. db key
html:p Movement problems typically become apparent by age 2 in people with SNOMED CT 44641000
triosephosphate isomerase deficiency. The movement problems are caused by
impairment of motor neurons, which are specialized nerve cells in the brain and
spinal cord that control muscle movement. This impairment leads to muscle
weakness and wasting (atrophy) and causes the movement problems typical of
triosephosphate isomerase deficiency, including involuntary muscle tensing
(dystonia), tremors, and weak muscle tone (hypotonia). Affected individuals may
also develop seizures.
html:p Weakness of other muscles, such as the heart (a condition known as
cardiomyopathy) and the muscle that separates the abdomen from the chest cavity
(the diaphragm) can also occur in triosephosphate isomerase deficiency.
Diaphragm weakness can cause breathing problems and ultimately leads to
respiratory failure.
html:p Individuals with triosephosphate isomerase deficiency are at increased risk of
developing infections because they have poorly functioning white blood cells.
These immune system cells normally recognize and attack foreign invaders, such
as viruses and bacteria, to prevent infection. The most common infections in
people with triosephosphate isomerase deficiency are bacterial infections of the
respiratory tract.
html:p People with triosephosphate isomerase deficiency often do not survive past
childhood due to respiratory failure. In a few rare cases, affected individuals
without severe nerve damage or muscle weakness have lived into adulthood.
related-gene-list
Triple A syndrome https://ghr.nlm.nih.gov/condition/triple-a-syndrome Triple A syndrome is a rare condition, although its exact prevalence is html:p Triple A syndrome is an inherited condition characterized by three specific ar autosomal recessive AAAS https://ghr.nlm.nih.gov/gene/AAAS AAA db key 2010-02 2017-12-29
unknown. features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that AAA syndrome GTR C0271742
affects the ability to move food through the esophagus, the tube that carries Achalasia-addisonian syndrome db key
food from the throat to the stomach. It can lead to severe feeding difficulties Achalasia-Addisonianism-Alacrima syndrome MeSH D000309
and low blood sugar (hypoglycemia). Addison disease, also known as primary Achalasia-alacrima syndrome db key
adrenal insufficiency, is caused by abnormal function of the small Alacrima-achalasia-adrenal insufficiency neurologic disorder MeSH D004931
hormone-producing glands on top of each kidney (adrenal glands). The main Allgrove syndrome db key
features of Addison disease include fatigue, loss of appetite, weight loss, low MeSH D007766
blood pressure, and darkening of the skin. The third major feature of triple A db key
syndrome is a reduced or absent ability to secrete tears (alacrima). Most people OMIM 231550
with triple A syndrome have all three of these features, although some have db key
only two. Orphanet 869
html:p Many of the features of triple A syndrome are caused by dysfunction of the db key
autonomic nervous system. This part of the nervous system controls involuntary SNOMED CT 45414006
body processes such as digestion, blood pressure, and body temperature. People
with triple A syndrome often experience abnormal sweating, difficulty regulating
blood pressure, unequal pupil size (anisocoria), and other signs and symptoms
of autonomic nervous system dysfunction (dysautonomia).
html:p People with this condition may have other neurological abnormalities, such as
developmental delay, intellectual disability, speech problems (dysarthria), and
a small head size (microcephaly). In addition, affected individuals commonly
experience muscle weakness, movement problems, and nerve abnormalities in their
extremities (peripheral neuropathy). Some develop optic atrophy, which is the
degeneration (atrophy) of the nerves that carry information from the eyes to the
brain. Many of the neurological symptoms of triple A syndrome worsen over time.
html:p People with triple A syndrome frequently develop a thickening of the outer layer
of skin (hyperkeratosis) on the palms of their hands and the soles of their
feet. Other skin abnormalities may also be present in people with this
condition.
html:p Alacrima is usually the first noticeable sign of triple A syndrome, as it
becomes apparent early in life that affected children produce little or no tears
while crying. They develop Addison disease and achalasia during childhood or
adolescence, and most of the neurologic features of triple A syndrome begin
during adulthood. The signs and symptoms of this condition vary among affected
individuals, even among members of the same family.
related-gene-list
Triple X syndrome https://ghr.nlm.nih.gov/condition/triple-x-syndrome This condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls html:p Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the n not inherited X https://ghr.nlm.nih.gov/chromosome/X 47,XXX db key 2014-06 2017-12-29
三染色體X症候群 with triple X syndrome are born in the United States each day. presence of an additional X chromosome in each of a female's cells. Although 47,XXX syndrome GTR C0221033
females with this condition may be taller than average, this chromosomal change triplo X syndrome db key
typically causes no unusual physical features. Most females with triple X trisomy X ICD-10-CM Q97.0
syndrome have normal sexual development and are able to conceive children. XXX syndrome db key
html:p Triple X syndrome is associated with an increased risk of learning disabilities MeSH D025064
and delayed development of speech and language skills. Delayed development of db key
motor skills (such as sitting and walking), weak muscle tone (hypotonia), and Orphanet 3375
behavioral and emotional difficulties are also possible, but these db key
characteristics vary widely among affected girls and women. Seizures or kidney SNOMED CT 35111009
abnormalities occur in about 10 percent of affected females.
related-gene-list
Trisomy 13 https://ghr.nlm.nih.gov/condition/trisomy-13 Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age html:p Trisomy 13, also called Patau syndrome, is a chromosomal condition associated n not inherited 13 https://ghr.nlm.nih.gov/chromosome/13 Bartholin-Patau syndrome db key 2013-11 2017-12-29
三染色體13 can have a child with trisomy 13, the chance of having a child with this with severe intellectual disability and physical abnormalities in many parts of complete trisomy 13 syndrome GTR C0152095
condition increases as a woman gets older. the body. Individuals with trisomy 13 often have heart defects, brain or spinal Patau syndrome db key
cord abnormalities, very small or poorly developed eyes (microphthalmia), extra Patau's syndrome ICD-10-CM Q91.4
fingers or toes, an opening in the lip (a cleft lip) with or without an opening trisomy 13 syndrome db key
in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due ICD-10-CM Q91.5
to the presence of several life-threatening medical problems, many infants with db key
trisomy 13 die within their first days or weeks of life. Only five percent to ICD-10-CM Q91.6
10 percent of children with this condition live past their first year. db key
ICD-10-CM Q91.7
db key
MeSH D014314
db key
Orphanet 3378
db key
SNOMED CT 21111006
db key
related-gene-list SNOMED CT 254268004
Trisomy 18 https://ghr.nlm.nih.gov/condition/trisomy-18 Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common html:p Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated n not inherited 18 https://ghr.nlm.nih.gov/chromosome/18 complete trisomy 18 syndrome db key 2012-03 2017-12-29
三染色體18 in pregnancy, but many affected fetuses do not survive to term. Although women with abnormalities in many parts of the body. Individuals with trisomy 18 often Edwards syndrome GTR C0152096
of all ages can have a child with trisomy 18, the chance of having a child with have slow growth before birth (intrauterine growth retardation) and a low birth trisomy 18 syndrome db key
this condition increases as a woman gets older. weight. Affected individuals may have heart defects and abnormalities of other trisomy E syndrome ICD-10-CM Q91
organs that develop before birth. Other features of trisomy 18 include a small, db key
abnormally shaped head; a small jaw and mouth; and clenched fists with ICD-10-CM Q91.0
overlapping fingers. Due to the presence of several life-threatening medical db key
problems, many individuals with trisomy 18 die before birth or within their ICD-10-CM Q91.1
first month. Five to 10 percent of children with this condition live past their db key
first year, and these children often have severe intellectual disability. ICD-10-CM Q91.2
db key
ICD-10-CM Q91.3
db key
ICD-10-CM Q91.4
db key
ICD-10-CM Q91.5
db key
ICD-10-CM Q91.6
db key
ICD-10-CM Q91.7
db key
MeSH D014314
db key
Orphanet 3380
db key
SNOMED CT 254266000
db key
Trisomy 9p syndrome
三染色體9p症候群
related-gene-list SNOMED CT 51500006
TRNT1 deficiency https://ghr.nlm.nih.gov/condition/trnt1-deficiency TRNT1 deficiency is a rare condition; its prevalence is unknown. html:p TRNT1 deficiency is a condition that affects many body systems. Its signs and ar autosomal recessive TRNT1 https://ghr.nlm.nih.gov/gene/TRNT1 retinitis pigmentosa with erythrocytic microcytosis db key 2017-12 2017-12-29
Approximately 20 affected individuals have been described in the medical symptoms can involve blood cells, the immune system, the eyes, and the nervous RPEM GTR C4015172
literature. system. The severity of the signs and symptoms vary widely. sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and db key
html:p A common feature of TRNT1 deficiency is a blood condition called sideroblastic developmental delay GTR C4310776
anemia, which is characterized by a shortage of red blood cells (anemia). In SIFD db key
TRNT1 deficiency, the red blood cells that are present are unusually small TRNT1 enzyme deficiency MeSH D000756
(erythrocytic microcytosis). In addition, developing red blood cells in the bone TRNT1-related immunodeficiency db key
marrow (erythroblasts) can have an abnormal buildup of iron that appears as a TRNT1-related immunodeficiency+ MeSH D012174
ring of blue staining in the cell after treatment in the lab with certain dyes. db key
These abnormal cells are called ring sideroblasts. OMIM 616084
html:p Many people with TRNT1 deficiency have an immune system disorder db key
(immunodeficiency) that can lead to recurrent bacterial infections. Repeated OMIM 616959
infections can cause life-threatening damage to internal organs. The db key
immunodeficiency is characterized by low numbers of immune system cells called B Orphanet 1047
cells, which normally help fight infections by producing immune proteins called
antibodies (or immunoglobulins). These proteins target foreign invaders such as
bacteria and viruses and mark them for destruction. In many individuals with
TRNT1 deficiency, the amount of immunoglobulins is also low
(hypogammaglobulinemia).
html:p In addition, many individuals with TRNT1 deficiency have recurrent fevers that
are not caused by an infection. These fever episodes are often one of the
earliest recognized symptoms of TRNT1 deficiency, usually beginning in infancy.
The fever episodes are typically accompanied by poor feeding, vomiting, and
diarrhea, and can lead to hospitalization. In many affected individuals, the
episodes occur regularly, arising approximately every 2 to 4 weeks and lasting 5
to 7 days, although the frequency can decrease with age.
html:p Eye abnormalities, often involving the light-sensing tissue at the back of the
eye (the retina), can occur in people with TRNT1 deficiency. Some of these
individuals have a condition called retinitis pigmentosa, in which the
light-sensing cells of the retina gradually deteriorate. Eye problems in TRNT1
deficiency can lead to vision loss.
html:p Neurological problems are also frequent in TRNT1 deficiency. Many affected
individuals have delayed development of speech and motor skills, such as
sitting, standing, and walking, and some have low muscle tone (hypotonia).
html:p Features that occur less commonly in people with TRNT1 deficiency include
hearing loss caused by abnormalities of the inner ear (sensorineural hearing
loss), recurrent seizures (epilepsy), and problems with the kidneys or heart.
html:p TRNT1 deficiency encompasses what was first thought to be two separate
disorders, a severe disorder called sideroblastic anemia with B-cell
immunodeficiency, periodic fevers, and developmental delay (SIFD) and a milder
disorder called retinitis pigmentosa with erythrocytic microcytosis (RPEM), each
named for its most common features. SIFD begins in infancy, and affected
individuals usually do not survive past childhood. RPEM, on the other hand, is
recognized in early adulthood, and the microcytosis usually does not cause any
health problems. However, it has since been recognized that some individuals
have a combination of features that fall between these two ends of the severity
spectrum. All of these cases are now considered part of TRNT1 deficiency.
related-gene-list
Troyer syndrome https://ghr.nlm.nih.gov/condition/troyer-syndrome About 20 cases of Troyer syndrome have been reported in the Old Order Amish html:p Troyer syndrome is part of a group of genetic disorders known as hereditary ar autosomal recessive SPART https://ghr.nlm.nih.gov/gene/SPART Autosomal Recessive Hereditary Spastic Paraplegia db key 2008-01 2017-12-29
特洛伊綜合症 population of Ohio. It has not been found outside this population. spastic paraplegias. These disorders are characterized by progressive muscle Cross-McKusick syndrome GTR C0393559
stiffness (spasticity) and the development of paralysis of the lower limbs Hereditary Spastic Paraplegia db key
(paraplegia). Hereditary spastic paraplegias are divided into two types: pure spastic paraparesis, childhood-onset, with distal muscle wasting GeneReviews hsp
and complex. The pure types involve the lower limbs. The complex types involve spastic paraplegia 20, autosomal recessive db key
the lower limbs and can also affect the upper limbs to a lesser degree; the spastic paraplegia, autosomal recessive, Troyer type GeneReviews spg20
structure or functioning of the brain; and the nerves connecting the brain and SPG20 db key
spinal cord to muscles and sensory cells that detect sensations such as touch, ICD-10-CM G11.4
pain, heat, and sound (the peripheral nervous system). Troyer syndrome is a db key
complex hereditary spastic paraplegia. MeSH D010264
html:p People with Troyer syndrome can experience a variety of signs and symptoms. The db key
most common characteristics of Troyer syndrome are spasticity of the leg MeSH D015419
muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands db key
and feet (distal amyotrophy), small stature, developmental delay, learning OMIM 275900
disorders, speech difficulties (dysarthria), and mood swings. Other db key
characteristics can include exaggerated reflexes (hyperreflexia) in the lower Orphanet 685
limbs, uncontrollable movements of the limbs (choreoathetosis), skeletal db key
abnormalities, and a bending outward (valgus) of the knees. SNOMED CT 230264003
html:p Troyer syndrome causes the degeneration and death of muscle cells and motor
neurons (specialized nerve cells that control muscle movement) throughout a
person's lifetime, leading to a slow progressive decline in muscle and nerve
function. The severity of impairment related to Troyer syndrome increases as a
person ages. Most affected individuals require a wheelchair by the time they
are in their fifties or sixties.
inheritance-pattern-list related-gene-list
TUBB4A-related leukodystrophy https://ghr.nlm.nih.gov/condition/tubb4a-related-leukodystrophy TUBB4A-related leukodystrophy is a rare disorder, although the exact html:p html:i ad autosomal dominant ghr-page TUBB4A-associated hypomyelinating leukoencephalopathies db-key db key 2017-08 2017-12-29
prevalence of the condition is unknown. At least 70 affected individuals have TUBB4A https://ghr.nlm.nih.gov/gene/TUBB4A TUBB4A-related hypomyelinating leukodystrophy GTR C2676244
been described in the medical literature. db-key db key
GeneReviews tubb4a-leuk
-related leukodystrophy involves hypomyelination, which means that the nervous db-key db key
system has a reduced ability to form myelin. In some affected individuals, MeSH D020279
myelin may also break down, which is known as demyelination. db-key db key
html:p At the most severe end of the TUBB4A-related leukodystrophy spectrum is a condition called OMIM 612438
hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). This disorder begins
in infancy or early childhood.
At the mildest end of the TUBB4A-related leukodystrophy spectrum is a condition called isolated hypomyelination,
which begins at any time from late childhood to adulthood. Individuals at this end of the spectrum have mild
html:p hypomyelination and sometimes mild atrophy of the cerebellum, but no problems with the basal ganglia.
html:p H-ABC is characterized by particular brain abnormalities, including
hypomyelination. In addition, tissue in certain regions of the brain breaks down
(atrophies), most prominently in a region called the putamen, which is part of
a group of structures that help control movement (the basal ganglia). Atrophy of
brain tissue in another region involved in movement called the cerebellum is
common, and atrophy of the cerebrum, which controls most voluntary activity,
language, sensory perception, learning, and memory, can also occur.
html:p html:i
TUBB4A
html:p html:i
TUBB4A
related-gene-list
Tuberous sclerosis complex, TSC https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex Tuberous sclerosis complex affects about 1 in 6,000 people. html:p Tuberous sclerosis complex is a genetic disorder characterized by the growth of ad autosomal dominant TSC1 https://ghr.nlm.nih.gov/gene/TSC1 Bourneville disease db key 2017-02 2017-12-29
結節性硬化症 numerous noncancerous (benign) tumors in many parts of the body. These tumors related-gene gene-symbol ghr-page Bourneville phakomatosis GTR C0041341
can occur in the skin, brain, kidneys, and other organs, in some cases leading TSC2 https://ghr.nlm.nih.gov/gene/TSC2 cerebral sclerosis db key
to significant health problems. Tuberous sclerosis complex also causes epiloia GTR C1854465
developmental problems, and the signs and symptoms of the condition vary from sclerosis tuberosa db key
person to person. tuberose sclerosis GTR C1860707
html:p Virtually all affected people have skin abnormalities, including patches of db key
unusually light-colored skin, areas of raised and thickened skin, and growths GeneReviews tuberous-sclerosis
under the nails. Tumors on the face called facial angiofibromas are also common db key
beginning in childhood. ICD-10-CM Q85.1
html:p Tuberous sclerosis complex often affects the brain, causing seizures, behavioral db key
problems such as hyperactivity and aggression, and intellectual disability or MeSH D014402
learning problems. Some affected children have the characteristic features of db key
autism, a developmental disorder that affects communication and social OMIM 191100
interaction. Benign brain tumors can also develop in people with tuberous db key
sclerosis complex; these tumors can cause serious or life-threatening Orphanet 805
complications. db key
html:p Kidney tumors are common in people with tuberous sclerosis complex; these SNOMED CT 36025004
growths can cause severe problems with kidney function and may be db key
life-threatening in some cases. Additionally, tumors can develop in the heart, SNOMED CT 7199000
lungs, and the light-sensitive tissue at the back of the eye (the retina).
就結節性硬化症，現時有新標靶藥物「Everolimus」能抑制腫瘤增生，但藥費每月約2萬元
related-gene-list
Tubular aggregate myopathy https://ghr.nlm.nih.gov/condition/tubular-aggregate-myopathy Tubular aggregate myopathy is a rare disorder. Its prevalence is unknown. html:p Tubular aggregate myopathy is a disorder that primarily affects the skeletal ad autosomal dominant ORAI1 https://ghr.nlm.nih.gov/gene/ORAI1 myopathy with tubular aggregates db key 2017-03 2017-12-29
muscles, which are muscles the body uses for movement. This disorder causes code memo related-gene gene-symbol ghr-page TAM GTR C0410207
muscle pain, cramping, or weakness that begins in childhood and worsens over ar autosomal recessive STIM1 https://ghr.nlm.nih.gov/gene/STIM1 db key
time. The muscles of the lower limbs are most often affected, although the upper MeSH D020914
limbs can also be involved. Affected individuals can have difficulty running, db key
climbing stairs, or getting up from a squatting position. The weakness may also OMIM 160565
lead to an unusual walking style (gait). Some people with this condition develop db key
joint deformities (contractures) in the arms and legs. Orphanet 2593
html:p Skeletal muscles are normally made up of two types of fibers, called type I and db key
type II fibers, in approximately equal quantities. Type I fibers, also called SNOMED CT 240087000
slow twitch fibers, are used for long, sustained activity, such as walking long
distances. Type II fibers, also known as fast twitch fibers, are used for short
bursts of strength, which are needed for activities such as running up stairs or
sprinting. In people with tubular aggregate myopathy, type II fibers waste away
(atrophy), so affected individuals have mostly type I fibers. In addition,
proteins build up abnormally in both type I and type II fibers, forming clumps
of tube-like structures called tubular aggregates. Tubular aggregates can occur
in other muscle disorders, but they are the primary muscle cell abnormality in
tubular aggregate myopathy.
related-gene-list
Tumor necrosis factor receptor-associated periodic syndrome https://ghr.nlm.nih.gov/condition/tumor-necrosis-factor-receptor-associated-peri TRAPS has an estimated prevalence of one per million individuals; it is the html:p Tumor necrosis factor receptor-associated periodic syndrome (commonly known as ad autosomal dominant TNFRSF1A https://ghr.nlm.nih.gov/gene/TNFRSF1A autosomal dominant familial periodic fever db key 2016-02 2017-12-29
odic-syndrome second most common inherited recurrent fever syndrome, following a similar TRAPS) is a condition characterized by recurrent episodes of fever. These fevers familial Hibernian fever GTR C1275126
condition called familial Mediterranean fever. More than 1,000 people worldwide typically last about 3 weeks but can last from a few days to a few months. The FPF db key
have been diagnosed with TRAPS. frequency of the episodes varies greatly among affected individuals; fevers can TNF receptor-associated periodic fever syndrome MeSH D056660
occur anywhere between every 6 weeks to every few years. Some individuals can TRAPS db key
go many years without having a fever episode. Fever episodes usually occur OMIM 142680
spontaneously, but sometimes they can be brought on by a variety of triggers, db key
such as minor injury, infection, stress, exercise, or hormonal changes. Orphanet 32960
html:p During episodes of fever, people with TRAPS can have additional signs and db key
symptoms. These include abdominal and muscle pain and a spreading skin rash, SNOMED CT 403833009
typically found on the limbs. Affected individuals may also experience puffiness
or swelling in the skin around the eyes (periorbital edema); joint pain; and
inflammation in various areas of the body including the eyes, heart muscle,
certain joints, throat, or mucous membranes such as the moist lining of the
mouth and digestive tract. Occasionally, people with TRAPS develop amyloidosis,
an abnormal buildup of a protein called amyloid in the kidneys that can lead to
kidney failure. It is estimated that 15 to 20 percent of people with TRAPS
develop amyloidosis, typically in mid-adulthood.
html:p The fever episodes characteristic of TRAPS can begin at any age, from infancy to
late adulthood, but most people have their first episode in childhood.
related-gene-list
Turner syndrome https://ghr.nlm.nih.gov/condition/turner-syndrome This condition occurs in about 1 in 2,500 newborn girls worldwide, but it html:p Turner syndrome is a chromosomal condition that affects development in females. n not inherited SHOX https://ghr.nlm.nih.gov/gene/SHOX 45,X db key 2017-10 2017-12-29
透納氏症 is much more common among pregnancies that do not survive to term (miscarriages The most common feature of Turner syndrome is short stature, which becomes related-chromosome name ghr-page monosomy X GTR C0041408
and stillbirths). evident by about age 5. An early loss of ovarian function (ovarian hypofunction X https://ghr.nlm.nih.gov/chromosome/X TS db key
or premature ovarian failure) is also very common. The ovaries develop normally Turner's syndrome ICD-10-CM Q96
at first, but egg cells (oocytes) usually die prematurely and most ovarian Ullrich-Turner syndrome db key
tissue degenerates before birth. Many affected girls do not undergo puberty ICD-10-CM Q96.0
unless they receive hormone therapy, and most are unable to conceive db key
(infertile). A small percentage of females with Turner syndrome retain normal ICD-10-CM Q96.1
ovarian function through young adulthood. db key
html:p About 30 percent of females with Turner syndrome have extra folds of skin on the ICD-10-CM Q96.2
neck (webbed neck), a low hairline at the back of the neck, puffiness or db key
swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney ICD-10-CM Q96.3
problems. One third to one half of individuals with Turner syndrome are born db key
with a heart defect, such as a narrowing of the large artery leaving the heart ICD-10-CM Q96.4
(coarctation of the aorta) or abnormalities of the valve that connects the aorta db key
with the heart (the aortic valve). Complications associated with these heart ICD-10-CM Q96.8
defects can be life-threatening. db key
html:p Most girls and women with Turner syndrome have normal intelligence. ICD-10-CM Q96.9
Developmental delays, nonverbal learning disabilities, and behavioral problems db key
are possible, although these characteristics vary among affected individuals. MeSH D014424
db key
Orphanet 881
db key
related-gene-list SNOMED CT 38804009
Type 1 diabetes https://ghr.nlm.nih.gov/condition/type-1-diabetes Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the html:p Type 1 diabetes is a disorder characterized by abnormally high blood sugar u pattern unknown CCR5 https://ghr.nlm.nih.gov/gene/CCR5 autoimmune diabetes db key 2013-03 2017-12-29
United States. By age 18, approximately 1 in 300 people in the United States levels. In this form of diabetes, specialized cells in the pancreas called beta related-gene gene-symbol ghr-page diabetes mellitus type 1 GTR C0011854
develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, cells stop producing insulin. Insulin controls how much glucose (a type of CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 diabetes mellitus, insulin-dependent db key
the United Kingdom, Canada, and New Zealand. Type 1 diabetes occurs much less sugar) is passed from the blood into cells for conversion to energy. Lack of related-gene gene-symbol ghr-page diabetes mellitus, type 1 GTR C1832392
frequently in Asia and South America, with reported incidences as low as 1 in 1 insulin results in the inability to use glucose for energy or to control the FOXP3 https://ghr.nlm.nih.gov/gene/FOXP3 IDDM db key
million per year. For unknown reasons, during the past 20 years the worldwide amount of sugar in the blood. related-gene gene-symbol ghr-page insulin-dependent diabetes mellitus GTR C1832474
incidence of type 1 diabetes has been increasing by 2 to 5 percent each html:p Type 1 diabetes can occur at any age; however, it usually develops by early HLA-DQA1 https://ghr.nlm.nih.gov/gene/HLA-DQA1 JOD db key
year.Type 1 diabetes accounts for 5 to 10 percent of cases of diabetes adulthood, most often starting in adolescence. The first signs and symptoms of related-gene gene-symbol ghr-page juvenile diabetes GTR C1832605
worldwide. Most people with diabetes have type 2 diabetes, in which the body the disorder are caused by high blood sugar and may include frequent urination HLA-DQB1 https://ghr.nlm.nih.gov/gene/HLA-DQB1 juvenile-onset diabetes db key
continues to produce insulin but becomes less able to use it. (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or related-gene gene-symbol ghr-page juvenile-onset diabetes mellitus GTR C1833218
loss of feeling in the hands and feet, and weight loss. These symptoms may recur HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 T1D db key
during the course of the disorder if blood sugar is not well controlled by related-gene gene-symbol ghr-page type 1 diabetes mellitus GTR C1838259
insulin replacement therapy. Improper control can also cause blood sugar levels HNF1A https://ghr.nlm.nih.gov/gene/HNF1A db key
to become too low (hypoglycemia). This may occur when the body's needs change, related-gene gene-symbol ghr-page GTR C1838260
such as during exercise or if eating is delayed. Hypoglycemia can cause IL2RA https://ghr.nlm.nih.gov/gene/IL2RA db key
headache, dizziness, hunger, shaking, sweating, weakness, and agitation. related-gene gene-symbol ghr-page GTR C1838261
html:p Uncontrolled type 1 diabetes can lead to a life-threatening complication called IL6 https://ghr.nlm.nih.gov/gene/IL6 db key
diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of related-gene gene-symbol ghr-page GTR C1838262
glucose in cells prompts the liver to try to compensate by releasing more INS https://ghr.nlm.nih.gov/gene/INS db key
glucose into the blood, and blood sugar can become extremely high. The cells, related-gene gene-symbol ghr-page GTR C1848042
unable to use the glucose in the blood for energy, respond by using fats ITPR3 https://ghr.nlm.nih.gov/gene/ITPR3 db key
instead. Breaking down fats to obtain energy produces waste products called related-gene gene-symbol ghr-page GTR C1852092
ketones, which can build up to toxic levels in people with type 1 diabetes, OAS1 https://ghr.nlm.nih.gov/gene/OAS1 db key
resulting in diabetic ketoacidosis. Affected individuals may begin breathing related-gene gene-symbol ghr-page GTR C1854125
rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe related-gene gene-symbol ghr-page GTR C1857808
cases, diabetic ketoacidosis can lead to coma and death. SUMO4 https://ghr.nlm.nih.gov/gene/SUMO4 db key
html:p Over many years, the chronic high blood sugar associated with diabetes may cause GTR C1864068
damage to blood vessels and nerves, leading to complications affecting many db key
organs and tissues. The retina, which is the light-sensitive tissue at the back GTR C1866040
of the eye, can be damaged (diabetic retinopathy), leading to vision loss and db key
eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can GTR C1866041
lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and db key
loss of normal sensation (diabetic neuropathy) often occur, especially in the GTR C1866519
feet. Impaired circulation and absence of the normal sensations that prompt db key
reaction to injury can result in permanent damage to the feet; in severe cases, GTR C2675472
the damage can lead to amputation. People with type 1 diabetes are also at db key
increased risk of heart attacks, strokes, and problems with urinary and sexual GTR C2675864
function. db key
GTR C2675865
db key
GTR C2751697
db key
ICD-10-CM E10
db key
ICD-10-CM E10.1
db key
ICD-10-CM E10.2
db key
ICD-10-CM E10.3
db key
ICD-10-CM E10.4
db key
ICD-10-CM E10.5
db key
ICD-10-CM E10.6
db key
ICD-10-CM E10.8
db key
ICD-10-CM E10.9
db key
ICD-10-CM E10.10
db key
ICD-10-CM E10.11
db key
ICD-10-CM E10.21
db key
ICD-10-CM E10.22
db key
ICD-10-CM E10.29
db key
ICD-10-CM E10.31
db key
ICD-10-CM E10.32
db key
ICD-10-CM E10.33
db key
ICD-10-CM E10.34
db key
ICD-10-CM E10.35
db key
ICD-10-CM E10.36
db key
ICD-10-CM E10.39
db key
ICD-10-CM E10.40
db key
ICD-10-CM E10.41
db key
ICD-10-CM E10.42
db key
ICD-10-CM E10.43
db key
ICD-10-CM E10.44
db key
ICD-10-CM E10.49
db key
ICD-10-CM E10.51
db key
ICD-10-CM E10.52
db key
ICD-10-CM E10.59
db key
ICD-10-CM E10.61
db key
ICD-10-CM E10.62
db key
ICD-10-CM E10.63
db key
ICD-10-CM E10.64
db key
ICD-10-CM E10.65
db key
ICD-10-CM E10.69
db key
ICD-10-CM E10.311
db key
ICD-10-CM E10.319
db key
ICD-10-CM E10.321
db key
ICD-10-CM E10.329
db key
ICD-10-CM E10.331
db key
ICD-10-CM E10.339
db key
ICD-10-CM E10.341
db key
ICD-10-CM E10.349
db key
ICD-10-CM E10.351
db key
ICD-10-CM E10.359
db key
ICD-10-CM E10.610
db key
ICD-10-CM E10.618
db key
ICD-10-CM E10.620
db key
ICD-10-CM E10.621
db key
ICD-10-CM E10.622
db key
ICD-10-CM E10.628
db key
ICD-10-CM E10.630
db key
ICD-10-CM E10.638
db key
ICD-10-CM E10.641
db key
ICD-10-CM E10.649
db key
ICD-10-CM O24.01
db key
ICD-10-CM O24.011
db key
ICD-10-CM O24.012
db key
ICD-10-CM O24.013
db key
ICD-10-CM O24.019
db key
MeSH D003922
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OMIM 125852
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OMIM 222100
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OMIM 300136
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OMIM 600318
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OMIM 600319
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OMIM 600320
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OMIM 600321
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OMIM 600883
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OMIM 601208
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OMIM 601318
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OMIM 601388
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OMIM 601666
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OMIM 601941
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OMIM 601942
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OMIM 603266
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OMIM 605598
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OMIM 610155
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OMIM 612520
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OMIM 612521
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OMIM 612522
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OMIM 612622
db key
OMIM 613006
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Orphanet 181371
db key
Orphanet 243377
db key
synonym-list db-key-list SNOMED CT 46635009
Type 2 diabetes https://ghr.nlm.nih.gov/condition/type-2-diabetes Type 2 diabetes is the most common type of diabetes, accounting for 90 to html:p Type 2 diabetes is a disorder characterized by abnormally high blood sugar u pattern unknown synonym adult-onset diabetes mellitus key 2017-12-29
95 percent of all cases. In 2015, more than 23 million people in the United levels. In this form of diabetes, the body stops using and making insulin synonym AODM db-key C0011860
States had diagnosed diabetes and an additional 7 million people likely had properly. Insulin is a hormone produced in the pancreas that helps regulate synonym diabetes mellitus, adult-onset key
undiagnosed diabetes. The prevalence of diabetes increases with age, and the blood sugar levels. Specifically, insulin controls how much glucose (a type of synonym diabetes mellitus, non-insulin-dependent db-key E11
disease currently affects more than 20 percent of Americans over age 65. It is sugar) is passed from the blood into cells, where it is used as an energy synonym diabetes mellitus, type 2 key
the seventh leading cause of death in the United States.The risk of diabetes source. When blood sugar levels are high (such as after a meal), the pancreas synonym diabetes mellitus, type II db-key E11.0
varies by ethnic and geographic background. In the United States, the disease is releases insulin to move the excess glucose into cells, which reduces the amount synonym maturity-onset diabetes key
most common in Native Americans and Alaska Natives. It also has a higher of glucose in the blood. synonym maturity-onset diabetes mellitus db-key E11.00
prevalence among people of African American or Hispanic ancestry than those of html:p Most people who develop type 2 diabetes first have insulin resistance, a synonym NIDDM key
non-Hispanic white or Asian ancestry. Geographically, diabetes is most prevalent condition in which the body's cells use insulin less efficiently than normal. As synonym noninsulin-dependent diabetes mellitus db-key E11.01
in the southern and Appalachian regions of the United States.The prevalence of insulin resistance develops, more and more insulin is needed to keep blood synonym T2D key
diabetes is rapidly increasing worldwide. Due to an increase in inactive sugar levels in the normal range. To keep up with the increasing need, synonym type 2 diabetes mellitus db-key E11.2
(sedentary) lifestyles, obesity, and other risk factors, the frequency of this insulin-producing cells in the pancreas (called beta cells) make larger amounts key
disease has more than quadrupled in the past 35 years. of insulin. Over time, the beta cells become less able to respond to blood sugar db-key E11.3
changes, leading to an insulin shortage that prevents the body from reducing key
blood sugar levels effectively. Most people have some insulin resistance as they db-key E11.4
age, but inadequate exercise and excessive weight gain make it worse, greatly key
increasing the likelihood of developing type 2 diabetes. db-key E11.5
html:p Type 2 diabetes can occur at any age, but it most commonly begins in middle age key
or later. Signs and symptoms develop slowly over years. They include frequent db-key E11.6
urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, key
tingling or loss of feeling in the hands and feet (diabetic neuropathy), sores db-key E11.8
that do not heal well, and weight loss. If blood sugar levels are not controlled key
through medication or diet, type 2 diabetes can cause long-lasting (chronic) db-key E11.9
health problems including heart disease and stroke; nerve damage; and damage to key
the kidneys, eyes, and other parts of the body. db-key E11.21
key
db-key E11.22
key
db-key E11.29
key
db-key E11.31
key
db-key E11.32
key
db-key E11.33
key
db-key E11.34
key
db-key E11.35
key
db-key E11.36
key
db-key E11.37
key
db-key E11.39
key
db-key E11.40
key
db-key E11.41
key
db-key E11.42
key
db-key E11.43
key
db-key E11.44
key
db-key E11.49
key
db-key E11.51
key
db-key E11.52
key
db-key E11.59
key
db-key E11.61
key
db-key E11.62
key
db-key E11.63
key
db-key E11.64
key
db-key E11.65
key
db-key E11.69
key
db-key E11.311
key
db-key E11.319
key
db-key E11.321
key
db-key E11.329
key
db-key E11.331
key
db-key E11.339
key
db-key E11.341
key
db-key E11.349
key
db-key E11.351
key
db-key E11.352
key
db-key E11.353
key
db-key E11.354
key
db-key E11.355
key
db-key E11.359
key
db-key E11.610
key
db-key E11.618
key
db-key E11.620
key
db-key E11.621
key
db-key E11.622
key
db-key E11.628
key
db-key E11.630
key
db-key E11.638
key
db-key E11.641
key
db-key E11.649
key
db-key D003924
key
db-key 125853
key
related-gene-list 44054006
Type A insulin resistance syndrome https://ghr.nlm.nih.gov/condition/type-a-insulin-resistance-syndrome Type A insulin resistance syndrome is estimated to affect about 1 in html:p Type A insulin resistance syndrome is a rare disorder characterized by severe ad autosomal dominant INSR https://ghr.nlm.nih.gov/gene/INSR diabetes mellitus, insulin-resistant, with acanthosis nigricans db key 2014-12 2017-12-29
100,000 people worldwide. Because females have more health problems associated insulin resistance, a condition in which the body's tissues and organs do not code memo extreme insulin resistance with acanthosis nigricans, hirsutism and abnormal GTR C0271690
with the condition, it is diagnosed more often in females than in males. respond properly to the hormone insulin. Insulin normally helps regulate blood ar autosomal recessive insulin receptors db key
sugar levels by controlling how much sugar (in the form of glucose) is passed insulin-resistance syndrome type A MeSH D000052
from the bloodstream into cells to be used as energy. In people with type A insulin resistance syndrome, type A db key
insulin resistance syndrome, insulin resistance impairs blood sugar regulation insulin resistance - type A MeSH D007333
and ultimately leads to a condition called diabetes mellitus, in which blood insulin-resistant diabetes mellitus and acanthosis nigricans db key
sugar levels can become dangerously high. type A insulin resistance OMIM 610549
html:p Severe insulin resistance also underlies the other signs and symptoms of type A db key
insulin resistance syndrome. In affected females, the major features of the Orphanet 2297
condition become apparent in adolescence. Many affected females do not begin db key
menstruation by age 16 (primary amenorrhea) or their periods may be light and SNOMED CT 237651005
irregular (oligomenorrhea). They develop cysts on the ovaries and excessive body db key
hair growth (hirsutism). Most affected females also develop a skin condition SNOMED CT 24203005
called acanthosis nigricans, in which the skin in body folds and creases becomes
thick, dark, and velvety. Unlike most people with insulin resistance, females
with type A insulin resistance syndrome are usually not overweight.
html:p The features of type A insulin resistance syndrome are more subtle in affected
males. Some males have low blood sugar (hypoglycemia) as the only sign; others
may also have acanthosis nigricans. In many cases, males with this condition
come to medical attention only when they develop diabetes mellitus in adulthood.
html:p Type A insulin resistance syndrome is one of a group of related conditions
described as inherited severe insulin resistance syndromes. These disorders,
which also include Donohue syndrome and Rabson-Mendenhall syndrome, are
considered part of a spectrum. Type A insulin resistance syndrome represents the
mildest end of the spectrum: its features often do not become apparent until
puberty or later, and it is generally not life-threatening.
related-gene-list
Tyrosine hydroxylase deficiency https://ghr.nlm.nih.gov/condition/tyrosine-hydroxylase-deficiency The prevalence of TH deficiency is unknown. html:p Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects ar autosomal recessive TH https://ghr.nlm.nih.gov/gene/TH autosomal recessive infantile parkinsonism db key 2009-04 2017-12-29
酪胺酸羥化酶缺乏症 movement, with symptoms that may range from mild to severe. Segawa syndrome, autosomal recessive GTR C1854299
(Metabolic) html:p The mild form of this disorder is called TH-deficient dopa-responsive dystonia TH deficiency db key
(DRD). Symptoms usually appear during childhood. Affected individuals may TH-deficient DRD GeneReviews thdrd
exhibit unusual limb positioning and a lack of coordination when walking or db key
running. In some cases, people with TH-deficient DRD have additional movement MeSH D020734
problems such as shaking when holding a position (postural tremor) or db key
involuntary upward-rolling movements of the eyes. The movement difficulties may OMIM 605407
slowly increase with age but almost always get better with medical treatment. db key
html:p The severe forms of TH deficiency are called infantile parkinsonism and Orphanet 101150
progressive infantile encephalopathy. These forms of the disorder appear soon db key
after birth and are more difficult to treat effectively. SNOMED CT 715827001
html:p Babies with infantile parkinsonism have delayed development of motor skills such
as sitting unsupported or reaching for a toy. They may have stiff muscles,
especially in the arms and legs; unusual body positioning; droopy eyelids
(ptosis); and involuntary upward-rolling eye movements. The autonomic nervous
system, which controls involuntary body functions, may also be affected.
Resulting signs and symptoms can include constipation, backflow of stomach acids
into the esophagus (gastroesophageal reflux), and difficulty regulating blood
sugar, body temperature, and blood pressure. People with the infantile
parkinsonism form of the disorder may have intellectual disability, speech
problems, attention deficit disorder, and psychiatric conditions such as
depression, anxiety, or obsessive-compulsive behaviors.
html:p Progressive infantile encephalopathy is an uncommon severe form of TH
deficiency. It is characterized by brain dysfunction and structural
abnormalities leading to profound physical and intellectual disability.
related-gene-list
Tyrosinemia https://ghr.nlm.nih.gov/condition/tyrosinemia Worldwide, tyrosinemia type I affects about 1 in 100,000 individuals. This html:p Tyrosinemia is a genetic disorder characterized by disruptions in the multistep ar autosomal recessive FAH https://ghr.nlm.nih.gov/gene/FAH hereditary tyrosinemia db key 2015-08 2017-12-29
酪胺酸血症 type is more common in Norway where 1 in 60,000 to 74,000 individuals are process that breaks down the amino acid tyrosine, a building block of most related-gene gene-symbol ghr-page hypertyrosinaemia GTR C0268487
affected. Tyrosinemia type I is even more common in Quebec, Canada where it proteins. If untreated, tyrosine and its byproducts build up in tissues and HPD https://ghr.nlm.nih.gov/gene/HPD hypertyrosinemia db key
occurs in about 1 in 16,000 individuals. In the Saguenay-Lac St. Jean region of organs, which can lead to serious health problems. related-gene gene-symbol ghr-page tyrosinaemia GTR C0268490
Quebec, tyrosinemia type I affects 1 in 1,846 people.Tyrosinemia type II occurs html:p There are three types of tyrosinemia, which are each distinguished by their TAT https://ghr.nlm.nih.gov/gene/TAT db key
in fewer than 1 in 250,000 individuals worldwide. Tyrosinemia type III is very symptoms and genetic cause. Tyrosinemia type I, the most severe form of this GTR C0268623
rare; only a few cases have been reported. disorder, is characterized by signs and symptoms that begin in the first few db key
months of life. Affected infants fail to gain weight and grow at the expected GeneReviews tyrosinemia
rate (failure to thrive) due to poor food tolerance because high-protein foods db key
lead to diarrhea and vomiting. Affected infants may also have yellowing of the ICD-10-CM E70.21
skin and whites of the eyes (jaundice), a cabbage-like odor, and an increased db key
tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to MeSH D020176
liver and kidney failure, softening and weakening of the bones (rickets), and an db key
increased risk of liver cancer (hepatocellular carcinoma). Some affected OMIM 276600
children have repeated neurologic crises that consist of changes in mental db key
state, reduced sensation in the arms and legs (peripheral neuropathy), abdominal OMIM 276700
pain, and respiratory failure. These crises can last from 1 to 7 days. db key
Untreated, children with tyrosinemia type I often do not survive past the age of OMIM 276710
10 db key
html:p Tyrosinemia type II can affect the eyes, skin, and mental development. Signs and Orphanet 882
symptoms often begin in early childhood and include eye pain and redness, db key
excessive tearing, abnormal sensitivity to light (photophobia), and thick, Orphanet 28378
painful skin on the palms of their hands and soles of their feet (palmoplantar db key
hyperkeratosis). About 50 percent of individuals with tyrosinemia type II have SNOMED CT 124287008
some degree of intellectual disability. db key
html:p Tyrosinemia type III is the rarest of the three types. The characteristic SNOMED CT 124536006
features of this type include intellectual disability, seizures, and periodic db key
loss of balance and coordination (intermittent ataxia). SNOMED CT 190694001
html:p About 10 percent of newborns have temporarily elevated levels of tyrosine db key
(transient tyrosinemia). In these cases, the cause is not genetic. The most SNOMED CT 271847005
likely causes are vitamin C deficiency or immature liver enzymes due to db key
premature birth. SNOMED CT 27373000
db key
SNOMED CT 410056006
db key
SNOMED CT 413356003
db key
SNOMED CT 415764005
db key
SNOMED CT 4887000
db key
SNOMED CT 52452006
db key
SNOMED CT 56595005
db key
related-gene-list SNOMED CT 75387001
Ulcerative colitis https://ghr.nlm.nih.gov/condition/ulcerative-colitis Ulcerative colitis is most common in North America and Western Europe; html:p Ulcerative colitis is a chronic disorder that affects the digestive system. This u pattern unknown ABCB1 https://ghr.nlm.nih.gov/gene/ABCB1 colitis gravis db key 2016-01 2017-12-29
溃疡性结肠炎 however the prevalence is increasing in other regions. In North America, condition is characterized by abnormal inflammation of the inner surface of the related-gene gene-symbol ghr-page idiopathic proctocolitis GTR C0678202
ulcerative colitis affects approximately 40 to 240 in 100,000 people. It is rectum and colon, which make up most of the length of the large intestine. The IL10RA https://ghr.nlm.nih.gov/gene/IL10RA inflammatory bowel disease, ulcerative colitis type db key
estimated that more than 750,000 North Americans are affected by this disorder. inflammation usually causes open sores (ulcers) to develop in the large related-gene gene-symbol ghr-page UC ICD-10-CM K51
Ulcerative colitis is more common in whites and people of eastern and central intestine. Ulcerative colitis usually appears between ages 15 and 30, although IL10RB https://ghr.nlm.nih.gov/gene/IL10RB db key
European (Ashkenazi) Jewish descent than among people of other ethnic it can develop at any age. The inflammation tends to flare up multiple times related-gene gene-symbol ghr-page ICD-10-CM K51.0
backgrounds. throughout life, which causes recurring signs and symptoms. IL23R https://ghr.nlm.nih.gov/gene/IL23R db key
html:p The most common symptoms of ulcerative colitis are abdominal pain and cramping related-gene gene-symbol ghr-page ICD-10-CM K51.00
and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs IRF5 https://ghr.nlm.nih.gov/gene/IRF5 db key
and symptoms include nausea, loss of appetite, fatigue, and fevers. Chronic related-gene gene-symbol ghr-page ICD-10-CM K51.01
bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage PTPN2 https://ghr.nlm.nih.gov/gene/PTPN2 db key
of red blood cells (anemia) in some affected individuals. People with this ICD-10-CM K51.2
disorder have difficulty absorbing enough fluids and nutrients from their diet db key
and often experience weight loss. Affected children usually grow more slowly ICD-10-CM K51.3
than normal. Less commonly, ulcerative colitis causes problems with the skin, db key
joints, eyes, kidneys, or liver, which are most likely due to abnormal ICD-10-CM K51.5
inflammation. db key
html:p Toxic megacolon is a rare complication of ulcerative colitis that can be ICD-10-CM K51.8
life-threatening. Toxic megacolon involves widening of the colon and an db key
overwhelming bacterial infection (sepsis). Ulcerative colitis also increases the ICD-10-CM K51.9
risk of developing colon cancer, especially in people whose entire colon is db key
inflamed and in people who have had ulcerative colitis for 8 or more years. ICD-10-CM K51.011
html:p Ulcerative colitis is one common form of inflammatory bowel disease (IBD). db key
Another type of IBD, Crohn disease, also causes chronic inflammation of the ICD-10-CM K51.012
intestines. Unlike ulcerative colitis, which affects only the inner surface of db key
the large intestine, Crohn disease can cause inflammation in any part of the ICD-10-CM K51.013
digestive system, and the inflammation extends deeper into the intestinal db key
tissue. ICD-10-CM K51.014
db key
ICD-10-CM K51.018
db key
ICD-10-CM K51.019
db key
ICD-10-CM K51.20
db key
ICD-10-CM K51.21
db key
ICD-10-CM K51.30
db key
ICD-10-CM K51.31
db key
ICD-10-CM K51.50
db key
ICD-10-CM K51.51
db key
ICD-10-CM K51.80
db key
ICD-10-CM K51.81
db key
ICD-10-CM K51.90
db key
ICD-10-CM K51.91
db key
ICD-10-CM K51.211
db key
ICD-10-CM K51.212
db key
ICD-10-CM K51.213
db key
ICD-10-CM K51.214
db key
ICD-10-CM K51.218
db key
ICD-10-CM K51.219
db key
ICD-10-CM K51.311
db key
ICD-10-CM K51.312
db key
ICD-10-CM K51.313
db key
ICD-10-CM K51.314
db key
ICD-10-CM K51.318
db key
ICD-10-CM K51.319
db key
ICD-10-CM K51.511
db key
ICD-10-CM K51.512
db key
ICD-10-CM K51.513
db key
ICD-10-CM K51.514
db key
ICD-10-CM K51.518
db key
ICD-10-CM K51.519
db key
ICD-10-CM K51.811
db key
ICD-10-CM K51.812
db key
ICD-10-CM K51.813
db key
ICD-10-CM K51.814
db key
ICD-10-CM K51.818
db key
ICD-10-CM K51.819
db key
ICD-10-CM K51.911
db key
ICD-10-CM K51.912
db key
ICD-10-CM K51.913
db key
ICD-10-CM K51.914
db key
ICD-10-CM K51.918
db key
ICD-10-CM K51.919
db key
MeSH D003093
db key
OMIM 266600
db key
Orphanet 771
db key
related-gene-list SNOMED CT 64766004
UNC80 deficiency https://ghr.nlm.nih.gov/condition/unc80-deficiency The prevalence of UNC80 deficiency is unknown. At least 19 affected html:p UNC80 deficiency is a severe disorder characterized by nervous system and ar autosomal recessive UNC80 https://ghr.nlm.nih.gov/gene/UNC80 IHPRF2 db key 2017-12 2017-12-29
individuals have been described in the medical literature. developmental problems that are apparent from birth or early infancy. The infantile hypotonia with psychomotor retardation and characteristic facies-2 GTR C4225203
disorder does not typically get worse over time; development of intellectual db key
function and motor skills, such as rolling over and sitting, is slow and GeneReviews unc80-def
limited, but once skills are learned, they are usually retained. db key
html:p People with UNC80 deficiency have profound intellectual disability. Muscle tone MeSH D001927
is generally weak (hypotonia), but affected individuals may have increased db key
muscle tone (hypertonia) in the arms and legs. Most people with this disorder MeSH D053447
never learn to walk. Some affected individuals have feeding difficulties because db key
hypotonia leads to problems controlling movements of the mouth. Speech is also OMIM 616801
generally absent, although in some cases individuals have limited communication
using body language, gestures, and signs. Seizures, involuntary side-to-side
movements of the eyes (nystagmus), eyes that do not point in the same direction
(strabismus), and a high-pitched cry can also occur in this disorder.
html:p People with UNC80 deficiency are of normal size at birth but grow slowly during
infancy and childhood. Unusual facial features typically occur in this disorder,
and vary among affected individuals. These features can include a wide, short
skull (brachycephaly); a triangular face shape with a prominent forehead
(frontal bossing); droopy eyelids (ptosis); folds of skin covering the inner
corners of the eyes (epicanthal folds); outside corners of the eyes that point
downward (downslanting palpebral fissures); a nose with a prominent bridge and a
bulbous or upturned tip; a short, smooth space between the upper lip and nose
(philtrum); a mouth that remains open; and low-set ears. Other physical
differences that can occur in people with UNC80 deficiency include a short neck,
abnormal curvature of the spine (scoliosis), permanently bent joints
(contractures), and inward- and upward-turning feet (clubfeet).
related-gene-list
Uncombable hair syndrome https://ghr.nlm.nih.gov/condition/uncombable-hair-syndrome The prevalence of uncombable hair syndrome is unknown; at least 100 cases html:p Uncombable hair syndrome is a condition that is characterized by dry, frizzy ad autosomal dominant PADI3 https://ghr.nlm.nih.gov/gene/PADI3 cheveux incoiffables db key 2017-05 2017-12-29
have been described in the scientific literature. There are likely more people hair that cannot be combed flat. This condition develops in childhood, often code memo related-gene gene-symbol ghr-page pili trianguli et canaliculi GTR C0432347
who are undiagnosed because adults who seem unaffected may have had uncombable between infancy and age 3, but can appear as late as age 12. Affected children ar autosomal recessive TCHH https://ghr.nlm.nih.gov/gene/TCHH spun glass hair db key
hair syndrome in childhood. have light-colored hair, described as blond or silvery with a glistening sheen. related-gene gene-symbol ghr-page UHS MeSH D006201
The hair does not grow downward but out from the scalp in multiple directions. TGM3 https://ghr.nlm.nih.gov/gene/TGM3 unmanageable hair syndrome db key
interesting Despite its appearance, the hair is not fragile or brittle, and it grows at a OMIM 191480
normal or slightly slower rate. Only scalp hair is affected in uncombable hair db key
syndrome. OMIM 617251
html:p For unknown reasons, this condition usually improves over time. By adolescence db key
individuals with uncombable hair syndrome have hair that lies flat and has OMIM 617252
normal or nearly normal texture. db key
Orphanet 1410
db key
related-gene-list SNOMED CT 254230001
Unverricht-Lundborg disease https://ghr.nlm.nih.gov/condition/unverricht-lundborg-disease Progressive myoclonus epilepsy is a rare condition. Unverricht-Lundborg html:p Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected ar autosomal recessive CSTB https://ghr.nlm.nih.gov/gene/CSTB Baltic myoclonic epilepsy db key 2008-06 2017-12-29
disease is believed to be the most common cause of this type of epilepsy, but individuals usually begin showing signs and symptoms of the disorder between the Baltic myoclonus GTR C0751785
its worldwide prevalence is unknown. Unverricht-Lundborg disease occurs most ages of 6 and 15. Baltic myoclonus epilepsy db key
frequently in Finland, where approximately 4 in 100,000 people are affected. html:p Unverricht-Lundborg disease is classified as a type of progressive myoclonus EPM1 GeneReviews epm1
epilepsy. People with this disorder experience episodes of involuntary muscle Lundborg-Unverricht syndrome db key
jerking or twitching (myoclonus) that increase in frequency and severity over Mediterranean myoclonic epilepsy MeSH D020194
time. Episodes of myoclonus may be brought on by physical exertion, stress, myoclonic epilepsy of Unverricht and Lundborg db key
light, or other stimuli. Within 5 to 10 years, the myoclonic episodes may become PME OMIM 254800
severe enough to interfere with walking and other everyday activities. progressive myoclonic epilepsy db key
html:p Affected individuals also usually have seizures involving loss of consciousness, progressive myoclonus epilepsy 1 Orphanet 308
muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the ULD db key
myoclonic episodes, these may increase in frequency over several years but may Unverricht-Lundborg syndrome SNOMED CT 230423006
be controlled with treatment. After several years of progression, the frequency
of seizures may stabilize or decrease.
html:p Eventually people with Unverricht-Lundborg disease may develop problems with
balance and coordination (ataxia), involuntary rhythmic shaking called intention
tremor because it worsens during movement, difficulty speaking (dysarthria),
depression, and a slow, mild decline in intellectual functioning.
html:p People with Unverricht-Lundborg disease typically live into adulthood. Depending
on the severity of the condition and a person's response to treatment, life
expectancy may be normal.
Urea cycle disorders
尿素循環障礙疾病
related-gene-list
Uromodulin-associated kidney disease https://ghr.nlm.nih.gov/condition/uromodulin-associated-kidney-disease The prevalence of uromodulin-associated kidney disease is unknown. It html:p Uromodulin-associated kidney disease is an inherited condition that affects the ad autosomal dominant UMOD https://ghr.nlm.nih.gov/gene/UMOD Familial gout-kidney disease db key 2009-12 2017-12-29
尿调素相关肾脏病 accounts for fewer than 1 percent of cases of kidney disease. kidneys. The signs and symptoms of this condition vary, even among members of Familial gouty nephropathy GTR C0268113
the same family. Familial juvenile hyperuricemic nephropathy db key
html:p Many individuals with uromodulin-associated kidney disease develop high blood FJHN GTR C1835934
levels of a waste product called uric acid. Normally, the kidneys remove uric MCKD2 db key
acid from the blood and transfer it to urine. In this condition, the kidneys are Medullary cystic kidney disease type 2 GTR C1859040
unable to remove uric acid from the blood effectively. A buildup of uric acid UMAK db key
can cause gout, which is a form of arthritis resulting from uric acid crystals UMOD-related kidney disease GeneReviews mckd2
in the joints. The signs and symptoms of gout may appear as early as a person's Uromodulin storage disease db key
teens in uromodulin-associated kidney disease. MeSH D007674
html:p Uromodulin-associated kidney disease causes slowly progressive kidney disease, db key
with the signs and symptoms usually beginning during the teenage years. The OMIM 162000
kidneys become less able to filter fluids and waste products from the body as db key
this condition progresses, resulting in kidney failure. Individuals with OMIM 603860
uromodulin-associated kidney disease typically require either dialysis to remove db key
wastes from the blood or a kidney transplant between the ages of 30 and 70. OMIM 609886
Occasionally, affected individuals are found to have small kidneys or kidney db key
cysts (medullary cysts). Orphanet 34149
db key
SNOMED CT 445503007
db key
related-gene-list SNOMED CT 46785007
Usher syndrome https://ghr.nlm.nih.gov/condition/usher-syndrome Types I and II are the most common forms of Usher syndrome in most html:p Usher syndrome is a condition characterized by partial or total hearing loss and ar autosomal recessive ADGRV1 https://ghr.nlm.nih.gov/gene/ADGRV1 deafness-retinitis pigmentosa syndrome db key 2017-11 2017-12-29
尤塞氏綜合症 countries. Certain genetic mutations resulting in type 1 Usher syndrome are more vision loss that worsens over time. The hearing loss is classified as related-gene gene-symbol ghr-page Graefe-Usher syndrome GTR C0271097
(Hearing) common among people of Ashkenazi (eastern and central European) Jewish or sensorineural, which means that it is caused by abnormalities of the inner ear. CDH23 https://ghr.nlm.nih.gov/gene/CDH23 Hallgren syndrome db key
(Vision) French Acadian heritage than in the general population.Type III represents only The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), related-gene gene-symbol ghr-page retinitis pigmentosa-deafness syndrome GTR C0339534
about 2 percent of all Usher syndrome cases overall. However, type III occurs which affects the layer of light-sensitive tissue at the back of the eye (the CIB2 https://ghr.nlm.nih.gov/gene/CIB2 Usher's syndrome db key
more frequently in the Finnish population, where it accounts for about 40 retina). Vision loss occurs as the light-sensing cells of the retina gradually related-gene gene-symbol ghr-page GTR C1568247
percent of cases, and among people of Ashkenazi Jewish heritage. deteriorate. Night vision loss begins first, followed by blind spots that CLRN1 https://ghr.nlm.nih.gov/gene/CLRN1 db key
develop in the side (peripheral) vision. Over time, these blind spots enlarge related-gene gene-symbol ghr-page GTR C1568248
and merge to produce tunnel vision. In some cases, vision is further impaired by HARS https://ghr.nlm.nih.gov/gene/HARS db key
clouding of the lens of the eye (cataracts). However, many people with related-gene gene-symbol ghr-page GTR C1568249
retinitis pigmentosa retain some central vision throughout their lives. MYO7A https://ghr.nlm.nih.gov/gene/MYO7A db key
html:p Researchers have identified three major types of Usher syndrome, designated as related-gene gene-symbol ghr-page GTR C1832845
types I, II, and III. These types are distinguished by the severity of hearing PCDH15 https://ghr.nlm.nih.gov/gene/PCDH15 db key
loss, the presence or absence of balance problems, and the age at which signs related-gene gene-symbol ghr-page GTR C1847089
and symptoms appear. The types are further divided into subtypes based on their USH1C https://ghr.nlm.nih.gov/gene/USH1C db key
genetic cause. related-gene gene-symbol ghr-page GTR C1848604
html:p Most individuals with Usher syndrome type I are born with severe to profound USH1G https://ghr.nlm.nih.gov/gene/USH1G db key
hearing loss. Progressive vision loss caused by retinitis pigmentosa becomes related-gene gene-symbol ghr-page GTR C1848634
apparent in childhood. This type of Usher syndrome also causes abnormalities of USH2A https://ghr.nlm.nih.gov/gene/USH2A db key
the vestibular system, which is the part of the inner ear that helps maintain related-gene gene-symbol ghr-page GTR C1848638
the body's balance and orientation in space. As a result of the vestibular WHRN https://ghr.nlm.nih.gov/gene/WHRN db key
abnormalities, children with the condition have trouble with balance. They begin GTR C1854237
sitting independently and walking later than usual, and they may have db key
difficulty riding a bicycle and playing certain sports. GTR C1865865
html:p Usher syndrome type II is characterized by hearing loss from birth and db key
progressive vision loss that begins in adolescence or adulthood. The hearing GTR C1865885
loss associated with this form of Usher syndrome ranges from mild to severe and db key
mainly affects the ability to hear high-frequency sounds. For example, it is GTR C2675458
difficult for affected individuals to hear high, soft speech sounds, such as db key
those of the letters d and t. The degree of hearing loss varies within and among GTR C3148929
families with this condition, and it may become more severe over time. Unlike db key
the other forms of Usher syndrome, type II is not associated with vestibular GTR C3281066
abnormalities that cause difficulties with balance. db key
html:p People with Usher syndrome type III experience hearing loss and vision loss GTR C3539124
beginning somewhat later in life. Unlike the other forms of Usher syndrome, type db key
III is usually associated with normal hearing at birth. Hearing loss typically GTR C3553944
begins during late childhood or adolescence, after the development of speech, db key
and becomes more severe over time. By middle age, most affected individuals have GTR CN121478
profound hearing loss. Vision loss caused by retinitis pigmentosa also develops db key
in late childhood or adolescence. Some people with Usher syndrome type III GeneReviews usher1
develop vestibular abnormalities that cause problems with balance. db key
GeneReviews usher2
db key
MeSH D052245
db key
OMIM 276900
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OMIM 276901
db key
OMIM 276902
db key
OMIM 276904
db key
OMIM 601067
db key
OMIM 602083
db key
OMIM 602097
db key
OMIM 605472
db key
OMIM 606943
db key
OMIM 611383
db key
OMIM 612632
db key
OMIM 614504
db key
OMIM 614869
db key
OMIM 614990
db key
Orphanet 886
db key
SNOMED CT 232057003
db key
SNOMED CT 57838006
db key
related-gene-list SNOMED CT 73119000
UV-sensitive syndrome https://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome UV-sensitive syndrome appears to be a rare condition; only a small number html:p UV-sensitive syndrome is a condition that is characterized by sensitivity to the ar autosomal recessive ERCC6 https://ghr.nlm.nih.gov/gene/ERCC6 ultraviolet sensitive syndrome db key 2012-07 2017-12-29
of affected individuals have been reported in the scientific literature. ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can related-gene gene-symbol ghr-page UVSS GTR C1833561
However, this condition may be underdiagnosed. cause a sunburn in affected individuals. In addition, these individuals can have ERCC8 https://ghr.nlm.nih.gov/gene/ERCC8 db key
freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas related-gene gene-symbol ghr-page GTR C3553298
of skin after repeated exposure. Some people with UV-sensitive syndrome have UVSSA https://ghr.nlm.nih.gov/gene/UVSSA db key
small clusters of enlarged blood vessels just under the skin (telangiectasia), GTR C3553328
usually on the cheeks and nose. Although UV exposure can cause skin cancers, db key
people with UV-sensitive syndrome do not have an increased risk of developing MeSH D010787
these forms of cancer compared with the general population. db key
OMIM 600630
db key
OMIM 614621
db key
OMIM 614640
db key
Orphanet 178338
db key
synonym-list db-key-list SNOMED CT 698253007
VACTERL association https://ghr.nlm.nih.gov/condition/vacterl-association VACTERL association occurs in 1 in 10,000 to 40,000 newborns. html:p VACTERL association is a disorder that affects many body systems. VACTERL stands u pattern unknown key 2017-12-29
for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal db-key C1735591
fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL key
association typically have at least three of these characteristic features. db-key D000015
Affected individuals may have additional abnormalities that are not among the key
characteristic features of VACTERL association. db-key 192350
html:p Defects in the bones of the spine (vertebrae) are present in 60 to 80 percent of key
people with VACTERL association. These defects may include misshapen vertebrae, db-key 887
fused vertebrae, and missing or extra vertebrae. In some people, spinal key
problems require surgery or cause health problems, such as back pain of varying db-key 27742002
severity, throughout life. Sixty to 90 percent of individuals with VACTERL key
association have narrowing or blockage of the anus (anal atresia). Anal atresia 431395004
may be accompanied by abnormalities of the genitalia and urinary tract
(genitourinary anomalies). Heart (cardiac) defects occur in 40 to 80 percent of
individuals with VACTERL association. Cardiac defects can range in severity from
a life-threatening problem to a subtle defect that does not cause health
problems. Fifty to 80 percent of people with VACTERL association have a
tracheo-esophageal fistula, which is an abnormal connection (fistula) between
the esophagus and the windpipe (trachea). Tracheo-esophageal fistula can cause
problems with breathing and feeding early in life and typically requires
surgical correction in infancy. Kidney (renal) anomalies occur in 50 to 80
percent of individuals with VACTERL association. Affected individuals may be
missing one or both kidneys or have abnormally developed or misshapen kidneys,
which can affect kidney function. Limb abnormalities are seen in 40 to 50
percent of people with VACTERL association. These abnormalities most commonly
include poorly developed or missing thumbs or underdeveloped forearms and hands.
html:p Some of the features of VACTERL association can be subtle and are not identified
until late in childhood or adulthood, making diagnosis of this condition
difficult.
related-gene-list
Van der Woude syndrome https://ghr.nlm.nih.gov/condition/van-der-woude-syndrome Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 html:p Van der Woude syndrome is a condition that affects the development of the face. ad autosomal dominant IRF6 https://ghr.nlm.nih.gov/gene/IRF6 cleft lip and/or palate with mucous cysts of lower lip db key 2008-04 2017-12-29
唇顎裂症候群 people, based on data from Europe and Asia. Van der Woude syndrome is the most Many people with this disorder are born with a cleft lip, a cleft palate (an lip-pit syndrome GTR C0175697
common cause of cleft lip and palate resulting from variations in a single gene, opening in the roof of the mouth), or both. Affected individuals usually have VDWS db key
and this condition accounts for approximately 1 in 50 such cases. depressions (pits) near the center of the lower lip, which may appear moist due VWS GeneReviews vws
to the presence of salivary and mucous glands in the pits. Small mounds of db key
tissue on the lower lip may also occur. In some cases, people with van der Woude MeSH D019465
syndrome have missing teeth. db key
html:p People with van der Woude syndrome who have cleft lip and/or palate, like other OMIM 119300
individuals with these facial conditions, have an increased risk of delayed db key
language development, learning disabilities, or other mild cognitive problems. Orphanet 888
The average IQ of individuals with van der Woude syndrome is not significantly db key
different from that of the general population. SNOMED CT 79261008
related-gene-list
Very long-chain acyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficie VLCAD deficiency is estimated to affect 1 in 40,000 to 120,000 people. html:p Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that ar autosomal recessive ACADVL https://ghr.nlm.nih.gov/gene/ACADVL ACADVL db key 2009-11 2017-12-29
極長鏈醯輔酶A去氫酶缺乏症 ncy prevents the body from converting certain fats to energy, particularly during acyl-CoA dehydrogenase very long chain deficiency GTR C3887523
periods without food (fasting). very long-chain acyl coenzyme A dehydrogenase deficiency db key
html:p Signs and symptoms of VLCAD deficiency typically appear during infancy or early very long-chain acyl-coenzyme A dehydrogenase deficiency GeneReviews vlcad
childhood and can include low blood sugar (hypoglycemia), lack of energy VLCAD-C db key
(lethargy), and muscle weakness. Affected individuals are also at risk for VLCAD deficiency ICD-10-CM E71.310
serious complications such as liver abnormalities and life-threatening heart VLCAD-H db key
problems. When symptoms begin in adolescence or adulthood, they tend to be MeSH D008052
milder and usually do not involve the heart. db key
html:p Problems related to VLCAD deficiency can be triggered by periods of fasting, OMIM 201475
illness, and exercise. This disorder is sometimes mistaken for Reye syndrome, a db key
severe disorder that may develop in children while they appear to be recovering Orphanet 26793
from viral infections such as chicken pox or flu. Most cases of Reye syndrome db key
are associated with the use of aspirin during these viral infections. SNOMED CT 237997005
related-gene-list
Vibratory urticaria https://ghr.nlm.nih.gov/condition/vibratory-urticaria Vibratory urticaria is a rare disorder; its prevalence is unknown. It html:p Vibratory urticaria is a condition in which exposing the skin to vibration, ad autosomal dominant ADGRE2 https://ghr.nlm.nih.gov/gene/ADGRE2 DDU db key 2016-07 2017-12-29
振動性蕁麻疹 belongs to a class of disorders called physical urticarias in which allergy repetitive stretching, or friction results in allergy symptoms such as hives dermodistortive urticaria GTR C0473546
symptoms are brought on by direct exposure to factors such as pressure, heat, (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) VBU db key
cold, or sunlight. Physical urticarias have been estimated to occur in up to 5 in the affected area. The reaction can be brought on by towel drying, hand vibratory angioedema GTR C1852146
per 1,000 people. clapping, running, a bumpy ride in a vehicle, or other repetitive stimulation. db key
Headaches, fatigue, faintness, blurry vision, a metallic taste in the mouth, ICD-10-CM L50.4
facial flushing, and more widespread swelling (especially of the face) can also db key
occur during these episodes, especially if the stimulation is extreme or MeSH D000799
prolonged. The reaction occurs within a few minutes of the stimulation and db key
generally lasts up to an hour. Affected individuals can have several episodes MeSH D014581
per day. db key
OMIM 125630
db key
related-gene-list SNOMED CT 51247001
Vitamin D-dependent rickets https://ghr.nlm.nih.gov/condition/vitamin-d-dependent-rickets Rickets affects an estimated 1 in 200,000 children. The condition is most html:p Vitamin D-dependent rickets is a disorder of bone development that leads to ad autosomal dominant CYP2R1 https://ghr.nlm.nih.gov/gene/CYP2R1 VDDR db key 2017-12 2017-12-29
維生素D依賴性佝僂病第I型： often caused by a lack of vitamin D in the diet or insufficient sun exposure softening and weakening of the bones (rickets). There are several forms of the code memo related-gene gene-symbol ghr-page 1α-hydroxylase deficiency GTR C0268689
1-α-Hydroxylase Deficiency rather than genetic mutations. Genetic forms of rickets, including vitamin condition that are distinguished primarily by their genetic causes: type 1A ar autosomal recessive CYP27B1 https://ghr.nlm.nih.gov/gene/CYP27B1 db key
1α-羟化酶缺乏综合症 D-dependent rickets, are much less common. The prevalence of the different types (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a related-gene gene-symbol ghr-page GTR C0268690
1-α-水解酵素缺乏症 of vitamin D-dependent rickets is unknown. VDDR1A is more common in the French very rare form of the condition, called type 2B (VDDR2B), although not much is VDR https://ghr.nlm.nih.gov/gene/VDR db key
(Bone) Canadian population than in other populations. known about this form. GTR C2748783
html:p The signs and symptoms of vitamin D-dependent rickets begin within months after db key
birth, and most are the same for all types of the condition. The weak bones MeSH D012279
often cause bone pain and delayed growth and have a tendency to fracture. When db key
affected children begin to walk, they may develop abnormally curved (bowed) legs OMIM 264700
because the bones are too weak to bear weight. Impaired bone development also db key
results in widening of the areas near the ends of bones where new bone forms OMIM 277440
(metaphyses), especially in the knees, wrists, and ribs. Some people with db key
vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel OMIM 600081
and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also db key
common in this condition, and some affected individuals develop seizures. OMIM 600785
html:p In vitamin D-dependent rickets, there is an imbalance of certain substances in db key
the blood. An early sign in all types of the condition is low levels of the Orphanet 289157
mineral calcium (hypocalcemia), which is essential for the normal formation of db key
bones and teeth. Affected individuals also develop high levels of a hormone Orphanet 93160
involved in regulating calcium levels called parathyroid hormone (PTH), which db key
leads to a condition called secondary hyperparathyroidism. Low levels of a SNOMED CT 68295002
mineral called phosphate (hypophosphatemia) also occur in affected individuals.
Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a
hormone called calcitriol, which is the active form of vitamin D; individuals
with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals
with VDDR2A and VDDR2B have abnormally high levels.
html:p Hair loss (alopecia) can occur in VDDR2A, although not everyone with this form
of the condition has alopecia. Affected individuals can have sparse or patchy
hair or no hair at all on their heads. Some affected individuals are missing
body hair as well.
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B;VDDR1B
維生素D缺乏型侏儒症第一型乙型
related-gene-list
Vitelliform macular dystrophy https://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy Vitelliform macular dystrophy is a rare disorder; its incidence is unknown. html:p Vitelliform macular dystrophy is a genetic eye disorder that can cause ad autosomal dominant BEST1 https://ghr.nlm.nih.gov/gene/BEST1 vitelliform dystrophy db key 2013-12 2017-12-29
Best disease Vitelliform Macular Dystrophy progressive vision loss. This disorder affects the retina, the specialized related-gene gene-symbol ghr-page GTR C0339510
貝斯特氏症卵黃狀黃斑營養不良 light-sensitive tissue that lines the back of the eye. Specifically, PRPH2 https://ghr.nlm.nih.gov/gene/PRPH2 db key
(Vision) vitelliform macular dystrophy disrupts cells in a small area near the center of GTR C1842914
the retina called the macula. The macula is responsible for sharp central db key
vision, which is needed for detailed tasks such as reading, driving, and GTR CN230163
recognizing faces. db key
html:p Vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to GeneReviews bvd
build up in cells underlying the macula. Over time, the abnormal accumulation of db key
this substance can damage cells that are critical for clear central vision. As MeSH D057826
a result, people with this disorder often lose their central vision, and their db key
eyesight may become blurry or distorted. Vitelliform macular dystrophy OMIM 153700
typically does not affect side (peripheral) vision or the ability to see at db key
night. OMIM 608161
html:p Researchers have described two forms of vitelliform macular dystrophy with db key
similar features. The early-onset form (known as Best disease) usually appears Orphanet 1243
in childhood; the onset of symptoms and the severity of vision loss vary widely. db key
The adult-onset form begins later, usually in mid-adulthood, and tends to SNOMED CT 90036004
cause vision loss that worsens slowly over time. The two forms of vitelliform
macular dystrophy each have characteristic changes in the macula that can be
detected during an eye examination.
related-gene-list
Vitiligo https://ghr.nlm.nih.gov/condition/vitiligo Vitiligo is a common disorder, affecting between 0.5 percent and 1 percent html:p Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). u pattern unknown NLRP1 https://ghr.nlm.nih.gov/gene/NLRP1 VTLG db key 2015-01 2017-12-29
白癜風 of the population worldwide. While the condition may be more noticeable in The average age of onset of vitiligo is in the mid-twenties, but it can appear related-gene gene-symbol ghr-page GTR C0042900
白斑 dark-skinned people, it occurs with similar frequency in all ethnic groups. at any age. It tends to progress over time, with larger areas of the skin losing PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
pigment. Some people with vitiligo also have patches of pigment loss affecting ICD-10-CM H02.73
the hair on their scalp or body. db key
html:p Researchers have identified several forms of vitiligo. Generalized vitiligo ICD-10-CM H02.731
(also called nonsegmental vitiligo), which is the most common form, involves db key
loss of pigment (depigmentation) in patches of skin all over the body. ICD-10-CM H02.732
Depigmentation typically occurs on the face, neck, and scalp, and around body db key
openings such as the mouth and genitals. Sometimes pigment is lost in mucous ICD-10-CM H02.733
membranes, such as the lips. Loss of pigmentation is also frequently seen in db key
areas that tend to experience rubbing, impact, or other trauma, such as the ICD-10-CM H02.734
hands, arms, and places where bones are close to the skin surface (bony db key
prominences). Another form called segmental vitiligo is associated with smaller ICD-10-CM H02.735
patches of depigmented skin that appear on one side of the body in a limited db key
area; this occurs in about 10 percent of affected individuals. ICD-10-CM H02.736
html:p Vitiligo is generally considered to be an autoimmune disorder. Autoimmune db key
disorders occur when the immune system attacks the body's own tissues and ICD-10-CM H02.739
organs. In people with vitiligo the immune system appears to attack the pigment db key
cells (melanocytes) in the skin. About 15 to 25 percent of people with vitiligo ICD-10-CM L80
are also affected by at least one other autoimmune disorder, particularly db key
autoimmune thyroid disease, rheumatoid arthritis, type 1 diabetes, psoriasis, MeSH D014820
pernicious anemia, Addison disease, or systemic lupus erythematosus. db key
html:p In the absence of other autoimmune conditions, vitiligo does not affect general OMIM 193200
health or physical functioning. However, concerns about appearance and ethnic db key
identity are significant issues for many affected individuals. Orphanet 3435
db key
inheritance-pattern-list related-gene-list SNOMED CT 56727007
VLDLR-associated cerebellar hypoplasia https://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia VLDLR-associated cerebellar hypoplasia is rare; its prevalence is unknown. html:p html:i ar autosomal recessive ghr-page autosomal recessive cerebellar ataxia with mental retardation db-key db key 2009-10 2017-12-29
The condition was first described in the Hutterite population in Canada and the VLDLR https://ghr.nlm.nih.gov/gene/VLDLR autosomal recessive cerebellar hypoplasia with cerebral gyral simplification GTR C0394006
United States. This condition has also been reported in families from Iran and cerebellar disorder, nonprogressive, with mental retardation db-key db key
Turkey. cerebellar hypoplasia and mental retardation with or without quadrupedal GeneReviews ataxias
locomotion db-key db key
-associated cerebellar hypoplasia may learn to walk later in childhood, usually cerebellar hypoplasia, VLDLR-associated GeneReviews vldlr-ch
after the age of 6, although some are never able to walk independently. In one CHMRQ1 db-key db key
Turkish family, affected people walk on their hands and feet (quadrupedal DES-VLDLR MeSH D002524
locomotion). dysequilibrium syndrome-VLDLR db-key db key
html:p html:i VLDLR-CH OMIM 224050
VLDLR VLDLRCH db-key db key
Orphanet 1398
-associated cerebellar hypoplasia does not significantly affect a person's life db-key db key
expectancy. SNOMED CT 230782004
related-gene-list
Vohwinkel syndrome https://ghr.nlm.nih.gov/condition/vohwinkel-syndrome Vohwinkel syndrome is a rare disorder; about 50 cases have been reported in html:p Vohwinkel syndrome is a disorder with classic and variant forms, both of which ad autosomal dominant GJB2 https://ghr.nlm.nih.gov/gene/GJB2 congenital deafness with keratopachydermia and constrictions of fingers and toes db key 2012-11 2017-12-29
Vohwinkel綜合徵 the medical literature. affect the skin. related-gene gene-symbol ghr-page keratoderma hereditarium mutilans GTR C0265964
html:p In the classic form of Vohwinkel syndrome, affected individuals have thick, LOR https://ghr.nlm.nih.gov/gene/LOR KHM db key
honeycomb-like calluses on the palms of the hands and soles of the feet mutilating keratoderma GTR C1858805
(palmoplantar keratoses) beginning in infancy or early childhood. Affected palmoplantar keratoderma mutilans db key
children also typically have distinctive starfish-shaped patches of thickened palmoplantar keratoderma mutilans Vohwinkel MeSH D007645
skin on the tops of the fingers and toes or on the knees. Within a few years PPK mutilans Vohwinkel db key
they develop tight bands of abnormal fibrous tissue around their fingers and OMIM 124500
toes (pseudoainhum); the bands may cut off the circulation to the digits and db key
result in spontaneous amputation. People with the classic form of the disorder OMIM 604117
also have hearing loss. db key
html:p The variant form of Vohwinkel syndrome does not involve hearing loss, and the SNOMED CT 24559001
skin features also include widespread dry, scaly skin (ichthyosis), especially
on the limbs. The ichthyosis is usually mild, and there may also be mild
reddening of the skin (erythroderma). Some affected infants are born with a
tight, clear sheath covering their skin called a collodion membrane. This
membrane is usually shed during the first few weeks of life.
related-gene-list
Von Hippel-Lindau syndrome https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 html:p Von Hippel-Lindau syndrome is an inherited disorder characterized by the ad autosomal dominant VHL https://ghr.nlm.nih.gov/gene/VHL angiomatosis retinae db key 2012-07 2017-12-29
Von Hippel-Lindau 综合征 individuals. formation of tumors and fluid-filled sacs (cysts) in many different parts of the cerebelloretinal angiomatosis, familial GTR C0019562
逢希伯-林道症候群 body. Tumors may be either noncancerous or cancerous and most frequently appear Hippel-Lindau disease db key
視網膜小腦脊髓血管瘤症 during young adulthood; however, the signs and symptoms of von Hippel-Lindau VHL syndrome GeneReviews vhl
syndrome can occur throughout life. von Hippel-Lindau disease db key
html:p Tumors called hemangioblastomas are characteristic of von Hippel-Lindau ICD-10-CM Q85.8
syndrome. These growths are made of newly formed blood vessels. Although they db key
are typically noncancerous, they can cause serious or life-threatening MeSH D006623
complications. Hemangioblastomas that develop in the brain and spinal cord can db key
cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). OMIM 193300
Hemangioblastomas can also occur in the light-sensitive tissue that lines the db key
back of the eye (the retina). These tumors, which are also called retinal Orphanet 892
angiomas, may cause vision loss. db key
html:p People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, SNOMED CT 46659004
pancreas, and genital tract. They are also at an increased risk of developing a
type of kidney cancer called clear cell renal cell carcinoma and a type of
pancreatic cancer called a pancreatic neuroendocrine tumor.
html:p Von Hippel-Lindau syndrome is associated with a type of tumor called a
pheochromocytoma, which most commonly occurs in the adrenal glands (small
hormone-producing glands located on top of each kidney). Pheochromocytomas are
usually noncancerous. They may cause no symptoms, but in some cases they are
associated with headaches, panic attacks, excess sweating, or dangerously high
blood pressure that may not respond to medication. Pheochromocytomas are
particularly dangerous if they develop during pregnancy.
html:p About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic
sac tumors, which are noncancerous tumors in the inner ear. These growths can
cause hearing loss in one or both ears, as well as ringing in the ears
(tinnitus) and problems with balance. Without treatment, these tumors can cause
sudden profound deafness.
related-gene-list
Von Willebrand disease https://ghr.nlm.nih.gov/condition/von-willebrand-disease Von Willebrand disease is estimated to affect 1 in 100 to 10,000 html:p Von Willebrand disease is a bleeding disorder that slows the blood clotting ad autosomal dominant VWF https://ghr.nlm.nih.gov/gene/VWF angiohemophilia db key 2012-12 2017-12-29
(Blood) individuals. Because people with mild signs and symptoms may not come to medical process, causing prolonged bleeding after an injury. People with this condition code memo vascular pseudohemophilia GTR C0042974
類血友病 attention, it is thought that this condition is underdiagnosed. Most often experience easy bruising, long-lasting nosebleeds, and excessive bleeding ar autosomal recessive von Willebrand disorder db key
溫韋伯氏疾病 researchers agree that von Willebrand disease is the most common genetic or oozing following an injury, surgery, or dental work. Mild forms of von von Willebrand's factor deficiency GeneReviews von-willebrand
bleeding disorder. Willebrand disease may become apparent only when abnormal bleeding occurs db key
following surgery or a serious injury. Women with this condition typically have ICD-10-CM D68.0
heavy or prolonged bleeding during menstruation (menorrhagia), and some may also db key
experience reproductive tract bleeding during pregnancy and childbirth. In MeSH D014842
severe cases of von Willebrand disease, heavy bleeding occurs after minor trauma db key
or even in the absence of injury (spontaneous bleeding). Symptoms of von Orphanet 903
Willebrand disease may change over time. Increased age, pregnancy, exercise, and db key
stress may cause bleeding symptoms to become less frequent. SNOMED CT 12501008
html:p Von Willebrand disease is divided into three types, with type 2 being further db key
divided into four subtypes. Type 1 is the mildest and most common of the three SNOMED CT 128105004
types, accounting for 75 percent of affected individuals. Type 3 is the most db key
severe and rarest form of the condition. The four subtypes of type 2 von SNOMED CT 128106003
Willebrand disease are intermediate in severity. Another form of the disorder, db key
acquired von Willebrand syndrome, is not caused by inherited gene mutations. SNOMED CT 128107007
Acquired von Willebrand syndrome is typically seen along with other disorders, db key
such as diseases that affect bone marrow or immune cell function. This rare form SNOMED CT 128108002
of the condition is characterized by abnormal bleeding into the skin and other db key
soft tissues, usually beginning in adulthood. SNOMED CT 128113003
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SNOMED CT 128114009
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SNOMED CT 1908008
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SNOMED CT 19520006
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SNOMED CT 234446004
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SNOMED CT 234447008
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SNOMED CT 234448003
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SNOMED CT 234450006
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SNOMED CT 24663001
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SNOMED CT 35066007
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SNOMED CT 359700009
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SNOMED CT 359704000
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SNOMED CT 359709005
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SNOMED CT 359711001
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SNOMED CT 359714009
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SNOMED CT 359717002
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SNOMED CT 359721009
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SNOMED CT 359725000
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SNOMED CT 359729006
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SNOMED CT 359732009
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SNOMED CT 52137009
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SNOMED CT 71723006
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related-gene-list SNOMED CT 87397002
Waardenburg syndrome https://ghr.nlm.nih.gov/condition/waardenburg-syndrome Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts html:p Waardenburg syndrome is a group of genetic conditions that can cause hearing ad autosomal dominant EDN3 https://ghr.nlm.nih.gov/gene/EDN3 Waardenburg's syndrome db key 2016-08 2017-12-29
蓝色眼珠 for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are loss and changes in coloring (pigmentation) of the hair, skin, and eyes. related-gene gene-symbol ghr-page GTR C0342680
瓦氏综合征，蓝眼睛 the most common forms of Waardenburg syndrome, while types III and IV are rare. Although most people with Waardenburg syndrome have normal hearing, moderate to EDNRB https://ghr.nlm.nih.gov/gene/EDNRB db key
瓦登伯格综合症 profound hearing loss can occur in one or both ears. The hearing loss is present related-gene gene-symbol ghr-page GTR C1837203
瓦登伯革氏症候群 from birth (congenital). People with this condition often have very pale blue MITF https://ghr.nlm.nih.gov/gene/MITF db key
eyes or different colored eyes, such as one blue eye and one brown eye. related-gene gene-symbol ghr-page GTR C1838447
Sometimes one eye has segments of two different colors. Distinctive hair PAX3 https://ghr.nlm.nih.gov/gene/PAX3 db key
coloring (such as a patch of white hair or hair that prematurely turns gray) is related-gene gene-symbol ghr-page GTR C1847722
another common sign of the condition. The features of Waardenburg syndrome vary SNAI2 https://ghr.nlm.nih.gov/gene/SNAI2 db key
among affected individuals, even among people in the same family. related-gene gene-symbol ghr-page GTR C1847800
html:p There are four recognized types of Waardenburg syndrome, which are distinguished SOX10 https://ghr.nlm.nih.gov/gene/SOX10 db key
by their physical characteristics and sometimes by their genetic cause. Types I GTR C1848519
and II have very similar features, although people with type I almost always db key
have eyes that appear widely spaced and people with type II do not. In addition, GTR C1860339
hearing loss occurs more often in people with type II than in those with type db key
I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities GTR C2700405
of the arms and hands in addition to hearing loss and changes in pigmentation. db key
Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both GTR C2750452
Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that db key
causes severe constipation or blockage of the intestine. GTR C2750457
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GeneReviews ws1
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MeSH D014849
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OMIM 148820
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OMIM 193500
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OMIM 193510
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OMIM 277580
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OMIM 600193
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OMIM 606662
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OMIM 608890
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OMIM 611584
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OMIM 613265
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OMIM 613266
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Orphanet 894
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Orphanet 895
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Orphanet 896
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Orphanet 897
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Orphanet 3440
db key
related-gene-list SNOMED CT 47434006
Wagner syndrome https://ghr.nlm.nih.gov/condition/wagner-syndrome Wagner syndrome is a rare disorder, although its exact prevalence is html:p Wagner syndrome is a hereditary disorder that causes progressive vision loss. ad autosomal dominant VCAN https://ghr.nlm.nih.gov/gene/VCAN hyaloideoretinal degeneration of Wagner db key 2014-07 2017-12-29
(Vision) unknown. Approximately 300 affected individuals have been described worldwide; The eye problems that lead to vision loss typically begin in childhood, although VCAN-related vitreoretinopathy GTR C0339540
about half of these individuals are from the Netherlands. the vision impairment might not be immediately apparent. Wagner disease db key
html:p In people with Wagner syndrome, the light-sensitive tissue that lines the back Wagner vitreoretinal degeneration GeneReviews wagner
of the eye (the retina) becomes thin and may separate from the back of the eye Wagner vitreoretinopathy db key
(retinal detachment). The blood vessels within the retina (known as the choroid) MeSH D012162
may also be abnormal. The retina and the choroid progressively break down db key
(degenerate). Some people with Wagner syndrome have blurred vision because of OMIM 143200
ectopic fovea, an abnormality in which the part of the retina responsible for db key
sharp central vision is out of place. Additionally, the thick, clear gel that Orphanet 898
fills the eyeball (the vitreous) becomes watery and thin. People with Wagner db key
syndrome develop a clouding of the lens of the eye (cataract). Affected SNOMED CT 232064001
individuals may also experience nearsightedness (myopia), progressive night
blindness, or a narrowing of their field of vision.
html:p Vision impairment in people with Wagner syndrome can vary from near normal
vision to complete loss of vision in both eyes.
related-gene-list
WAGR syndrome https://ghr.nlm.nih.gov/condition/wagr-syndrome The prevalence of WAGR syndrome ranges from 1 in 500,000 to one million html:p WAGR syndrome is a disorder that affects many body systems and is named for its n not inherited BDNF https://ghr.nlm.nih.gov/gene/BDNF 11p deletion syndrome db key 2014-12 2017-12-29
WAGR 症候群 individuals. It is estimated that one-third of people with aniridia actually main features: Wilms tumor, anirida, genitourinary anomalies, and intellectual related-gene gene-symbol ghr-page 11p partial monosomy syndrome GTR C0206115
have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be disability (formerly referred to as mental retardation). PAX6 https://ghr.nlm.nih.gov/gene/PAX6 WAGR complex db key
attributed to WAGR syndrome. html:p People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms related-gene gene-symbol ghr-page WAGR contiguous gene syndrome GTR C2675904
tumor, a rare form of kidney cancer. This type of cancer is most often diagnosed WT1 https://ghr.nlm.nih.gov/gene/WT1 Wilms tumor-aniridia-genital anomalies-retardation syndrome db key
in children but is sometimes seen in adults. related-chromosome name ghr-page Wilms tumor-aniridia-genitourinary anomalies-MR syndrome GeneReviews aniridia
html:p Most people with WAGR syndrome have aniridia, an absence of the colored part of 11 https://ghr.nlm.nih.gov/chromosome/11 Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome db key
the eye (the iris). This can cause reduction in the sharpness of vision (visual GeneReviews wilms-ov
acuity) and increased sensitivity to light (photophobia). Aniridia is typically db key
the first noticeable sign of WAGR syndrome. Other eye problems may also develop, MeSH D017624
such as clouding of the lens of the eyes (cataracts), increased pressure in the db key
eyes (glaucoma), and involuntary eye movements (nystagmus). OMIM 194072
html:p Abnormalities of the genitalia and urinary tract (genitourinary anomalies) are db key
seen more frequently in males with WAGR syndrome than in affected females. The OMIM 612469
most common genitourinary anomaly in affected males is undescended testes db key
(cryptorchidism). Females may not have functional ovaries and instead have Orphanet 893
undeveloped clumps of tissue called streak gonads. Females may also have a db key
heart-shaped (bicornate) uterus, which makes it difficult to carry a pregnancy SNOMED CT 4135001
to term.
html:p Another common feature of WAGR syndrome is intellectual disability. Affected
individuals often have difficulty processing, learning, and properly responding
to information. Some individuals with WAGR syndrome also have psychiatric or
behavioral problems including depression, anxiety, attention deficit
hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or a
developmental disorder called autism that affects communication and social
interaction.
html:p Other signs and symptoms of WAGR syndrome can include childhood-onset obesity,
inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR
syndrome includes childhood-onset obesity, it is often referred to as WAGRO
syndrome.
related-gene-list
Waldenström macroglobulinemia https://ghr.nlm.nih.gov/condition/waldenstrom-macroglobulinemia Waldenström macroglobulinemia affects an estimated 3 per million people html:p Waldenström macroglobulinemia is a rare blood cell cancer characterized by an n not inherited CXCR4 https://ghr.nlm.nih.gov/gene/CXCR4 macroglobulinemia of Waldenstrom db key 2015-03 2017-12-29
華氏巨球蛋白血症 each year in the United States. Approximately 1,500 new cases of the condition excess of abnormal white blood cells called lymphoplasmacytic cells in the bone related-gene gene-symbol ghr-page Waldenstrom macroglobulinemia GTR C1835192
(Cancer) are diagnosed each year in this country, and whites are more commonly affected marrow. This condition is classified as a lymphoplasmacytic lymphoma. The MYD88 https://ghr.nlm.nih.gov/gene/MYD88 Waldenstrom's macroglobulinemia db key
than African Americans. For unknown reasons, the condition occurs twice as often abnormal cells have characteristics of both white blood cells (lymphocytes) WM ICD-10-CM C88.0
in men than women. called B cells and of more mature cells derived from B cells known as plasma db key
cells. These abnormal cells produce excess amounts of IgM, a type of protein MeSH D008258
known as an immunoglobulin; the overproduction of this large protein is how the db key
condition got its name ("macroglobulinemia"). OMIM 153600
html:p Waldenström macroglobulinemia usually begins in a person's sixties and is a db key
slow-growing (indolent) cancer. Some affected individuals have elevated levels Orphanet 33226
of IgM and lymphoplasmacytic cells but no symptoms of the condition; in these db key
cases, the disease is usually found incidentally by a blood test taken for SNOMED CT 190818004
another reason. These individuals are diagnosed with smoldering (or
asymptomatic) Waldenström macroglobulinemia. It can be several years before this
form of the condition progresses to the symptomatic form.
html:p Individuals with symptomatic Waldenström macroglobulinemia can experience
general symptoms such as fever, night sweats, and weight loss. Several other
signs and symptoms of the condition are related to the excess IgM, which can
thicken blood and impair circulation, causing a condition known as
hyperviscosity syndrome. Features related to hyperviscosity syndrome include
bleeding in the nose or mouth, blurring or loss of vision, headache, dizziness,
and difficulty coordinating movements (ataxia). In some affected individuals,
the IgM proteins clump together in the hands and feet, where the body
temperature is cooler than at the center of the body. These proteins are then
referred to as cryoglobulins, and their clumping causes a condition known as
cryoglobulinemia. Cryoglobulinemia can lead to pain in the hands and feet or
episodes of Raynaud phenomenon, in which the fingers and toes turn white or blue
in response to cold temperatures. The IgM protein can also build up in organs
such as the heart and kidneys, causing a condition called amyloidosis, which can
lead to heart and kidney problems. Some people with Waldenström
macroglobulinemia develop a loss of sensation and weakness in the limbs
(peripheral neuropathy). Doctors are unsure why this feature occurs, although
they speculate that the IgM protein attaches to the protective covering of nerve
cells (myelin) and breaks it down. The damaged nerves cannot carry signals
normally, leading to neuropathy.
html:p Other features of Waldenström macroglobulinemia are due to the accumulation of
lymphoplasmacytic cells in different tissues. For example, accumulation of these
cells can lead to an enlarged liver (hepatomegaly), spleen (splenomegaly), or
lymph nodes (lymphadenopathy). In the bone marrow, the lymphoplasmacytic cells
interfere with normal blood cell development, causing a shortage of normal blood
cells (pancytopenia). Excessive tiredness (fatigue) due to a reduction in red
blood cells (anemia) is common in affected individuals.
html:p People with Waldenström macroglobulinemia have an increased risk of developing
other cancers of the blood or other tissues.
related-gene-list
Walker-Warburg syndrome https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns html:p Walker-Warburg syndrome is an inherited disorder that affects development of the ar autosomal recessive B3GALNT2 https://ghr.nlm.nih.gov/gene/B3GALNT2 cerebroocular dysplasia-muscular dystrophy syndrome db key 2017-01 2017-12-29
Walker-Warburg綜合症 worldwide. muscles, brain, and eyes. It is the most severe of a group of genetic related-gene gene-symbol ghr-page Chemke syndrome GTR C0265221
conditions known as congenital muscular dystrophies, which cause muscle weakness B4GAT1 https://ghr.nlm.nih.gov/gene/B4GAT1 COD-MD syndrome db key
and wasting (atrophy) beginning very early in life. The signs and symptoms of related-gene gene-symbol ghr-page HARD syndrome GeneReviews cmd-overview
Walker-Warburg syndrome are present at birth or in early infancy. Because of the DAG1 https://ghr.nlm.nih.gov/gene/DAG1 hydrocephalus, agyria, and retinal dysplasia db key
severity of the problems caused by Walker-Warburg syndrome, most affected related-gene gene-symbol ghr-page MDDGA MeSH D058494
individuals do not survive past age 3. FKRP https://ghr.nlm.nih.gov/gene/FKRP muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), db key
html:p Walker-Warburg syndrome affects the skeletal muscles, which are muscles the body related-gene gene-symbol ghr-page type A OMIM 236670
uses for movement. Affected babies have weak muscle tone (hypotonia) and are FKTN https://ghr.nlm.nih.gov/gene/FKTN muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A db key
sometimes described as "floppy." The muscle weakness worsens over time. related-gene gene-symbol ghr-page Walker-Warburg congenital muscular dystrophy OMIM 253800
html:p Walker-Warburg syndrome also affects the brain; individuals with this condition ISPD https://ghr.nlm.nih.gov/gene/ISPD db key
typically have a brain abnormality called cobblestone lissencephaly, in which related-gene gene-symbol ghr-page OMIM 613150
the surface of the brain lacks the normal folds and grooves and instead develops LARGE1 https://ghr.nlm.nih.gov/gene/LARGE1 db key
a bumpy, irregular appearance (like that of cobblestones). These individuals related-gene gene-symbol ghr-page OMIM 613153
may also have a buildup of fluid in the brain (hydrocephalus) or abnormalities POMGNT1 https://ghr.nlm.nih.gov/gene/POMGNT1 db key
of certain parts of the brain, including a region called the cerebellum and the related-gene gene-symbol ghr-page OMIM 613154
part of the brain that connects to the spinal cord (the brainstem). These POMGNT2 https://ghr.nlm.nih.gov/gene/POMGNT2 db key
changes in the structure of the brain lead to significantly delayed development related-gene gene-symbol ghr-page OMIM 614643
and intellectual disability. Some individuals with Walker-Warburg syndrome POMK https://ghr.nlm.nih.gov/gene/POMK db key
experience seizures. related-gene gene-symbol ghr-page OMIM 614830
html:p Eye abnormalities are also characteristic of Walker-Warburg syndrome. These can POMT1 https://ghr.nlm.nih.gov/gene/POMT1 db key
include unusually small eyeballs (microphthalmia), enlarged eyeballs caused by related-gene gene-symbol ghr-page OMIM 615041
increased pressure in the eyes (buphthalmos), clouding of the lenses of the eyes POMT2 https://ghr.nlm.nih.gov/gene/POMT2 db key
(cataracts), and problems with the nerve that relays visual information from related-gene gene-symbol ghr-page OMIM 615181
the eyes to the brain (the optic nerve). These eye problems lead to vision RXYLT1 https://ghr.nlm.nih.gov/gene/RXYLT1 db key
impairment in affected individuals. OMIM 615249
db key
OMIM 615287
db key
OMIM 616538
db key
Orphanet 899
db key
related-gene-list SNOMED CT 111504002
Warfarin resistance https://ghr.nlm.nih.gov/condition/warfarin-resistance Warfarin resistance is thought to be a rare condition, although its html:p Warfarin resistance is a condition in which individuals have a high tolerance ad autosomal dominant ABCB1 https://ghr.nlm.nih.gov/gene/ABCB1 coumarin resistance db key 2015-07 2017-12-29
prevalence is unknown. for the drug warfarin. Warfarin is an anticoagulant, which means that it thins related-gene gene-symbol ghr-page poor metabolism of coumarin GTR CN078029
the blood, preventing blood clots from forming. Warfarin is often prescribed to UGT1A1 https://ghr.nlm.nih.gov/gene/UGT1A1 db key
prevent blood clots in people with heart valve disease who have replacement related-gene gene-symbol ghr-page MeSH D004305
heart valves, people with an irregular heart beat (atrial fibrillation), or VKORC1 https://ghr.nlm.nih.gov/gene/VKORC1 db key
those with a history of heart attack, stroke, or a prior blood clot in the deep OMIM 122700
veins of the arms or legs (deep vein thrombosis). db key
html:p There are two types of warfarin resistance: incomplete and complete. Those with SNOMED CT 243873002
incomplete warfarin resistance can achieve the benefits of warfarin treatment
with a high dose of warfarin. Individuals with complete warfarin resistance do
not respond to warfarin treatment, no matter how high the dose. If people with
warfarin resistance require treatment with warfarin and take the average dose,
they will remain at risk of developing a potentially harmful blood clot.
html:p Both types of warfarin resistance are related to how the body processes
warfarin. In some people with warfarin resistance, their blood clotting process
does not react effectively to the drug. Others with this resistance rapidly
break down (metabolize) warfarin, so the medication is quickly processed by
their bodies; these individuals are classified as "fast metabolizers" or "rapid
metabolizers" of warfarin. The severity of these abnormal processes determines
whether the warfarin resistance is complete or incomplete.
html:p Warfarin resistance does not appear to cause any health problems other than
those associated with warfarin drug treatment.
related-gene-list
Warfarin sensitivity https://ghr.nlm.nih.gov/condition/warfarin-sensitivity The prevalence of warfarin sensitivity is unknown. However, it appears to html:p Warfarin sensitivity is a condition in which individuals have a low tolerance ad autosomal dominant CYP2C9 https://ghr.nlm.nih.gov/gene/CYP2C9 coumadin sensitivity db key 2015-06 2017-12-29
be more common in people who are older, those with lower body weights, and for the drug warfarin. Warfarin is an anticoagulant, which means that it thins related-gene gene-symbol ghr-page warfarin response GTR CN078029
individuals of Asian ancestry.Of the approximately 2 million people in the U.S. the blood, preventing blood clots from forming. Warfarin is often prescribed to CYP4F2 https://ghr.nlm.nih.gov/gene/CYP4F2 db key
who are prescribed warfarin annually, 35,000 to 45,000 individuals go to prevent blood clots in people with heart valve disease who have replacement related-gene gene-symbol ghr-page MeSH D004305
hospital emergency rooms with warfarin-related adverse drug events. While it is heart valves, people with an irregular heart beat (atrial fibrillation), or F9 https://ghr.nlm.nih.gov/gene/F9 db key
unclear how many of these events are due to warfarin sensitivity, the most those with a history of heart attack, stroke, or a prior blood clot in the deep related-gene gene-symbol ghr-page OMIM 122700
common sign is excessive internal bleeding, which is often seen when individuals veins of the arms or legs (deep vein thrombosis). GGCX https://ghr.nlm.nih.gov/gene/GGCX db key
with warfarin sensitivity are given too much of the medication. html:p Many people with warfarin sensitivity take longer than normal to break down related-gene gene-symbol ghr-page Orphanet 240997
(metabolize) warfarin, so the medication is in their body longer than usual and VKORC1 https://ghr.nlm.nih.gov/gene/VKORC1 db key
they require lower doses. These individuals are classified as "slow SNOMED CT 243873002
metabolizers" of warfarin. Other people with warfarin sensitivity do not need as
much drug to prevent clots because their clot forming process is already slower
than average and can be inhibited by low warfarin doses. If people with
warfarin sensitivity take the average dose (or more) of warfarin, they are at
risk of an overdose, which can cause abnormal bleeding in the brain,
gastrointestinal tract, or other tissues, and may lead to serious health
problems or death.
html:p Warfarin sensitivity does not appear to cause any health problems other than
those associated with warfarin drug treatment.
related-gene-list
Warsaw breakage syndrome https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome Warsaw breakage syndrome is a rare condition; at least four cases have been html:p Warsaw breakage syndrome is a condition that can cause multiple abnormalities. ar autosomal recessive DDX11 https://ghr.nlm.nih.gov/gene/DDX11 WABS db key 2014-02 2017-12-29
described in the medical literature. People with Warsaw breakage syndrome have intellectual disability that varies GTR C3150658
from mild to severe. They also have impaired growth from birth leading to short db key
stature and a small head size (microcephaly). Affected individuals have MeSH D049914
distinctive facial features that may include a small forehead, a short nose, a db key
small lower jaw, a flat area between the nose and mouth (philtrum), and OMIM 613398
prominent cheeks. Other common features include hearing loss caused by nerve db key
damage in the inner ear (sensorineural hearing loss) and heart malformations. Orphanet 280558
db key
related-gene-list SNOMED CT 702829000
Weaver syndrome https://ghr.nlm.nih.gov/condition/weaver-syndrome The prevalence of Weaver syndrome is unknown. About 50 affected individuals html:p Weaver syndrome is a condition that involves tall stature with or without a ad autosomal dominant EZH2 https://ghr.nlm.nih.gov/gene/EZH2 camptodactyly-overgrowth-unusual facies db key 2016-03 2017-12-29
韋弗綜合症 have been described in the medical literature. large head size (macrocephaly), a variable degree of intellectual disability Weaver-Smith syndrome GTR C0265210
(usually mild), and characteristic facial features. These features can include a WSS db key
broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a MeSH D000015
dimpled chin, and a small lower jaw (micrognathia). db key
html:p People with Weaver syndrome can also have joint deformities called contractures OMIM 277590
that restrict the movement of affected joints. The contractures may particularly db key
affect the fingers and toes, resulting in permanently bent digits Orphanet 3447
(camptodactyly). Other features of this disorder can include abnormal curvature db key
of the spine (kyphoscoliosis); muscle tone that is either reduced (hypotonia) or SNOMED CT 63119004
increased (hypertonia); loose, saggy skin; and a soft-outpouching around the
belly-button (umbilical hernia). Some affected individuals have abnormalities in
the folds (gyri) of the brain, which can be seen by medical imaging; the
relationship between these brain abnormalities and the intellectual disability
associated with Weaver syndrome is unclear.
html:p Researchers suggest that people with Weaver syndrome may have an increased risk
of developing cancer, in particular a slightly increased risk of developing a
tumor called neuroblastoma in early childhood, but the small number of affected
individuals makes it difficult to determine the exact risk.
related-gene-list
Weill-Marchesani syndrome https://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome Weill-Marchesani syndrome appears to be rare; it has an estimated html:p Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue ad autosomal dominant ADAMTS10 https://ghr.nlm.nih.gov/gene/ADAMTS10 brachydactyly-spherophakia syndrome db key 2015-02 2017-12-29
Weill-Marchesani綜合症 prevalence of 1 in 100,000 people. forms the body's supportive framework, providing structure and strength to the code memo related-gene gene-symbol ghr-page brachymorphy with spherophakia syndrome GTR C0265313
muscles, joints, organs, and skin. ar autosomal recessive FBN1 https://ghr.nlm.nih.gov/gene/FBN1 congenital mesodermal dysmorphodystrophy db key
html:p The major signs and symptoms of Weill-Marchesani syndrome include short stature, Marchesani syndrome GTR C1869114
eye abnormalities, unusually short fingers and toes (brachydactyly), and joint Marchesani-Weill Syndrome db key
stiffness. Adult height for men with Weill-Marchesani syndrome ranges from 4 spherophakia-brachymorphia syndrome GTR C1869115
feet, 8 inches to 5 feet, 6 inches. Adult height for women with this condition WMS db key
ranges from 4 feet, 3 inches to 5 feet, 2 inches. GTR C3553785
html:p An eye abnormality called microspherophakia is characteristic of db key
Weill-Marchesani syndrome. This term refers to a small, sphere-shaped lens, GeneReviews weill-ms
which is associated with nearsightedness (myopia) that worsens over time. The db key
lens also may be positioned abnormally within the eye (ectopia lentis). Many MeSH D056846
people with Weill-Marchesani syndrome develop glaucoma, an eye disease that db key
increases the pressure in the eye and can lead to blindness. OMIM 277600
html:p Occasionally, heart defects or an abnormal heart rhythm can occur in people with db key
Weill-Marchesani syndrome. OMIM 608328
db key
OMIM 614819
db key
Orphanet 3449
db key
related-gene-list SNOMED CT 2884008
Weissenbacher-Zweymüller syndrome https://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome Weissenbacher-Zweymüller syndrome is very rare; only a few affected html:p Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is ad autosomal dominant COL11A2 https://ghr.nlm.nih.gov/gene/COL11A2 heterozygous OSMED db key 2016-05 2017-12-29
Weissenbacher - Zweymuller综合症 families worldwide have been described in the medical literature. characterized by skeletal abnormalities, hearing loss, and distinctive facial heterozygous otospondylomegaepiphyseal dysplasia GTR C1848488
features. The features of this condition significantly overlap those of two Pierre Robin syndrome with fetal chondrodysplasia db key
similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler WZS MeSH D003095
syndrome type III. All of these conditions are caused by mutations in the same db key
gene, and in some cases, it can be difficult to tell them apart. Some OMIM 184840
researchers believe they represent a single disorder with a range of signs and db key
symptoms. Orphanet 3450
html:p Infants born with Weissenbacher-Zweymüller syndrome are smaller than average db key
because the bones in their arms and legs are unusually short. The thigh and SNOMED CT 699313003
upper arm bones are wider than usual at the ends (described as dumbbell-shaped),
and the bones of the spine (vertebrae) may also be abnormally shaped.
High-frequency hearing loss occurs in some cases. Distinctive facial features
include wide-set protruding eyes, a small and upturned nose with a flat bridge,
and a small lower jaw. Some affected infants are born with an opening in the
roof of the mouth (a cleft palate).
html:p Most people with Weissenbacher-Zweymüller syndrome experience significant
"catch-up" growth in the bones of the arms and legs during childhood. As a
result, adults with this condition are not unusually short. However, affected
adults still have other signs and symptoms of Weissenbacher-Zweymüller syndrome,
including distinctive facial features and hearing loss.
related-gene-list
Werner syndrome https://ghr.nlm.nih.gov/condition/werner-syndrome Werner syndrome is estimated to affect 1 in 200,000 individuals in the html:p Werner syndrome is characterized by the dramatic, rapid appearance of features ar autosomal recessive WRN https://ghr.nlm.nih.gov/gene/WRN Adult premature aging syndrome db key 2012-12 2017-12-29
成人型早老症 United States. This syndrome occurs more often in Japan, affecting 1 in 20,000 associated with normal aging. Individuals with this disorder typically grow and Adult Progeria GTR C0043119
to 1 in 40,000 people. develop normally until they reach puberty. Affected teenagers usually do not Werner's Syndrome db key
have a growth spurt, resulting in short stature. The characteristic aged Werners Syndrome GeneReviews werner
appearance of individuals with Werner syndrome typically begins to develop when WS db key
they are in their twenties and includes graying and loss of hair; a hoarse MeSH D014898
voice; and thin, hardened skin. They may also have a facial appearance described db key
as "bird-like." Many people with Werner syndrome have thin arms and legs and a OMIM 277700
thick trunk due to abnormal fat deposition. db key
html:p As Werner syndrome progresses, affected individuals may develop disorders of Orphanet 902
aging early in life, such as cloudy lenses (cataracts) in both eyes, skin db key
ulcers, type 2 diabetes, diminished fertility, severe hardening of the arteries SNOMED CT 51626007
(atherosclerosis), thinning of the bones (osteoporosis), and some types of
cancer. It is not uncommon for affected individuals to develop multiple, rare
cancers during their lifetime. People with Werner syndrome usually live into
their late forties or early fifties. The most common causes of death are cancer
and atherosclerosis.
related-gene-list
Weyers acrofacial dysostosis https://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis Weyers acrofacial dysostosis appears to be a rare disorder. Only a few html:p Weyers acrofacial dysostosis is a disorder that affects the development of the ad autosomal dominant EVC https://ghr.nlm.nih.gov/gene/EVC acrodental dysostosis of Weyers db key 2012-12 2017-12-29
Weyers 肢面發育不全 affected families have been identified worldwide. teeth, nails, and bones. Dental abnormalities can include small, peg-shaped related-gene gene-symbol ghr-page Curry-Hall syndrome GTR C0457013
teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two EVC2 https://ghr.nlm.nih.gov/gene/EVC2 Weyers acrodental dysostosis db key
(a single central incisor). Additionally, the lower jaw (mandible) may be MeSH D004413
abnormally shaped. People with Weyers acrofacial dysostosis have abnormally db key
small or malformed fingernails and toenails. Most people with the condition are OMIM 193530
relatively short, and they may have extra fingers or toes (polydactyly). db key
html:p The features of Weyers acrofacial dysostosis overlap with those of another, more Orphanet 952
severe condition called Ellis-van Creveld syndrome. In addition to tooth and db key
nail abnormalities, people with Ellis-van Creveld syndrome have very short SNOMED CT 277807007
stature and are often born with heart defects. The two conditions are caused by
mutations in the same genes.
related-gene-list
White sponge nevus https://ghr.nlm.nih.gov/condition/white-sponge-nevus The exact prevalence of white sponge nevus is unknown, but it is estimated html:p White sponge nevus is a condition characterized by the formation of white ad autosomal dominant KRT4 https://ghr.nlm.nih.gov/gene/KRT4 Cannon's disease db key 2014-02 2017-12-29
白色海綿痣 to affect less than 1 in 200,000 individuals worldwide. patches of tissue called nevi (singular: nevus) that appear as thickened, related-gene gene-symbol ghr-page familial white folded mucosal dysplasia GTR C1721005
velvety, sponge-like tissue. The nevi are most commonly found on the moist KRT13 https://ghr.nlm.nih.gov/gene/KRT13 hereditary leukokeratosis db key
lining of the mouth (oral mucosa), especially on the inside of the cheeks hereditary mucosal leukokeratosis MeSH D053529
(buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, hereditary oral keratosis db key
white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, leukokeratosis of oral mucosa OMIM 193900
esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) leukokeratosis, hereditary mucosal db key
overgrowth of cells. nevus of Cannon OMIM 615785
html:p White sponge nevus can be present from birth but usually first appears during white folded gingivostomatosis db key
early childhood. The size and location of the nevi can change over time. In the white gingivostomatitis Orphanet 171723
oral mucosa, both sides of the mouth are usually affected. The nevi are white sponge naevus db key
generally painless, but the folds of extra tissue can promote bacterial growth, white sponge nevus of Cannon SNOMED CT 389203001
which can lead to infection that may cause discomfort. The altered texture and white sponge nevus of mucosa
appearance of the affected tissue, especially the oral mucosa, can be bothersome WSN
for some affected individuals.
White-Sutton Syndrome (WHSUS)
懷特-薩頓症候群
related-gene-list
Williams syndrome https://ghr.nlm.nih.gov/condition/williams-syndrome Williams syndrome affects an estimated 1 in 7,500 to 10,000 people. html:p Williams syndrome is a developmental disorder that affects many parts of the ad autosomal dominant ABHD11 https://ghr.nlm.nih.gov/gene/ABHD11 Beuren syndrome db key 2014-12 2017-12-29
威廉氏症候群 body. This condition is characterized by mild to moderate intellectual related-gene gene-symbol ghr-page elfin facies syndrome GTR C0175702
Williams-Beuren syndrome disability or learning problems, unique personality characteristics, distinctive BAZ1B https://ghr.nlm.nih.gov/gene/BAZ1B elfin facies with hypercalcemia db key
威廉氏症候群 facial features, and heart and blood vessel (cardiovascular) problems. related-gene gene-symbol ghr-page hypercalcemia-supravalvar aortic stenosis GeneReviews williams
supravalvar aortic stenosis (SVAS) html:p People with Williams syndrome typically have difficulty with visual-spatial BCL7B https://ghr.nlm.nih.gov/gene/BCL7B infantile hypercalcemia db key
高鈣血症主動脈上狹窄症候群 tasks such as drawing and assembling puzzles, but they tend to do well on tasks related-gene gene-symbol ghr-page supravalvar aortic stenosis syndrome MeSH D018980
that involve spoken language, music, and learning by repetition (rote BUD23 https://ghr.nlm.nih.gov/gene/BUD23 WBS db key
memorization). Affected individuals have outgoing, engaging personalities and related-gene gene-symbol ghr-page Williams-Beuren syndrome OMIM 194050
tend to take an extreme interest in other people. Attention deficit disorder CLDN3 https://ghr.nlm.nih.gov/gene/CLDN3 WMS db key
(ADD), problems with anxiety, and phobias are common among people with this related-gene gene-symbol ghr-page WS Orphanet 904
disorder. CLDN4 https://ghr.nlm.nih.gov/gene/CLDN4 db key
html:p Young children with Williams syndrome have distinctive facial features including related-gene gene-symbol ghr-page SNOMED CT 63247009
a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth CLIP2 https://ghr.nlm.nih.gov/gene/CLIP2
with full lips. Many affected people have dental problems such as teeth that related-gene gene-symbol ghr-page
are small, widely spaced, crooked, or missing. In older children and adults, the DNAJC30 https://ghr.nlm.nih.gov/gene/DNAJC30
face appears longer and more gaunt. related-gene gene-symbol ghr-page
html:p A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) EIF4H https://ghr.nlm.nih.gov/gene/EIF4H
occurs frequently in people with Williams syndrome. Supravalvular aortic related-gene gene-symbol ghr-page
stenosis is a narrowing of the large blood vessel that carries blood from the ELN https://ghr.nlm.nih.gov/gene/ELN
heart to the rest of the body (the aorta). If this condition is not treated, related-gene gene-symbol ghr-page
the aortic narrowing can lead to shortness of breath, chest pain, and heart FKBP6 https://ghr.nlm.nih.gov/gene/FKBP6
failure. Other problems with the heart and blood vessels, including high blood related-gene gene-symbol ghr-page
pressure (hypertension), have also been reported in people with Williams FZD9 https://ghr.nlm.nih.gov/gene/FZD9
syndrome. related-gene gene-symbol ghr-page
html:p Additional signs and symptoms of Williams syndrome include abnormalities of GTF2I https://ghr.nlm.nih.gov/gene/GTF2I
connective tissue (tissue that supports the body's joints and organs) such as related-gene gene-symbol ghr-page
joint problems and soft, loose skin. Affected people may also have increased GTF2IRD1 https://ghr.nlm.nih.gov/gene/GTF2IRD1
calcium levels in the blood (hypercalcemia) in infancy, developmental delays, related-gene gene-symbol ghr-page
problems with coordination, and short stature. Medical problems involving the GTF2IRD2 https://ghr.nlm.nih.gov/gene/GTF2IRD2
eyes and vision, the digestive tract, and the urinary system are also possible. related-gene gene-symbol ghr-page
LAT2 https://ghr.nlm.nih.gov/gene/LAT2
related-gene gene-symbol ghr-page
LIMK1 https://ghr.nlm.nih.gov/gene/LIMK1
related-gene gene-symbol ghr-page
METTL27 https://ghr.nlm.nih.gov/gene/METTL27
related-gene gene-symbol ghr-page
MLXIPL https://ghr.nlm.nih.gov/gene/MLXIPL
related-gene gene-symbol ghr-page
NCF1 https://ghr.nlm.nih.gov/gene/NCF1
related-gene gene-symbol ghr-page
NSUN5 https://ghr.nlm.nih.gov/gene/NSUN5
related-gene gene-symbol ghr-page
RFC2 https://ghr.nlm.nih.gov/gene/RFC2
related-gene gene-symbol ghr-page
STX1A https://ghr.nlm.nih.gov/gene/STX1A
related-gene gene-symbol ghr-page
TBL2 https://ghr.nlm.nih.gov/gene/TBL2
related-gene gene-symbol ghr-page
TMEM270 https://ghr.nlm.nih.gov/gene/TMEM270
related-gene gene-symbol ghr-page
TRIM50 https://ghr.nlm.nih.gov/gene/TRIM50
related-gene gene-symbol ghr-page
VPS37D https://ghr.nlm.nih.gov/gene/VPS37D
related-chromosome name ghr-page
7 https://ghr.nlm.nih.gov/chromosome/7
related-gene-list
Wilson disease https://ghr.nlm.nih.gov/condition/wilson-disease Wilson disease is a rare disorder that affects approximately 1 in 30,000 html:p Wilson disease is an inherited disorder in which excessive amounts of copper ar autosomal recessive ATP7B https://ghr.nlm.nih.gov/gene/ATP7B copper storage disease db key 2014-01 2017-12-29
小精灵综合症 individuals. accumulate in the body, particularly in the liver, brain, and eyes. The signs related-gene gene-symbol ghr-page hepatolenticular degeneration syndrome GTR C0019202
Wilson's disease and symptoms of Wilson disease usually first appear between the ages of 6 and PRNP https://ghr.nlm.nih.gov/gene/PRNP WD db key
威爾森氏症 45, but they most often begin during the teenage years. The features of this Wilson's disease GeneReviews wilson
condition include a combination of liver disease and neurological and db key
psychiatric problems. ICD-10-CM E83.01
html:p Liver disease is typically the initial feature of Wilson disease in affected db key
children and young adults; individuals diagnosed at an older age usually do not MeSH D006527
have symptoms of liver problems, although they may have very mild liver disease. db key
The signs and symptoms of liver disease include yellowing of the skin or whites OMIM 277900
of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling. db key
html:p Nervous system or psychiatric problems are often the initial features in Orphanet 905
individuals diagnosed in adulthood and commonly occur in young adults with db key
Wilson disease. Signs and symptoms of these problems can include clumsiness, SNOMED CT 88518009
tremors, difficulty walking, speech problems, impaired thinking ability,
depression, anxiety, and mood swings.
html:p In many individuals with Wilson disease, copper deposits in the front surface of
the eye (the cornea) form a green-to-brownish ring, called the Kayser-Fleischer
ring, that surrounds the colored part of the eye. Abnormalities in eye
movements, such as a restricted ability to gaze upwards, may also occur.
related-gene-list
Winchester syndrome https://ghr.nlm.nih.gov/condition/winchester-syndrome Winchester syndrome is a rare condition whose prevalence is unknown. It has html:p Winchester syndrome is a rare inherited disease characterized by a loss of bone ar autosomal recessive MMP14 https://ghr.nlm.nih.gov/gene/MMP14 Winchester disease db key 2013-12 2017-12-29
溫徹斯特綜合症 been reported in only a few individuals worldwide. tissue (osteolysis), particularly in the hands and feet. Winchester syndrome WNCHRS GTR C0432289
used to be considered part of a related condition now called multicentric db key
osteolysis, nodulosis, and arthropathy (MONA). However, because Winchester MeSH D010014
syndrome and MONA are caused by mutations in different genes, they are now db key
thought to be separate disorders. OMIM 277950
html:p In most cases of Winchester syndrome, bone loss begins in the hands and feet, db key
causing pain and limiting movement. Bone abnormalities later spread to other Orphanet 3460
parts of the body, with joint problems (arthropathy) occurring in the elbows, db key
shoulders, knees, hips, and spine. Most people with Winchester syndrome develop SNOMED CT 254151006
low bone mineral density (osteopenia) and thinning of the bones (osteoporosis)
throughout the skeleton. These abnormalities make bones brittle and more prone
to fracture. The bone abnormalities also lead to short stature.
html:p Some people with Winchester syndrome have skin abnormalities including patches
of dark, thick, and leathery skin. Other features of the condition can include
clouding of the clear front covering of the eye (corneal opacity), excess hair
growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and
distinctive facial features that are described as "coarse."
related-gene-list
Wiskott-Aldrich syndrome https://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome The estimated incidence of Wiskott-Aldrich syndrome is between 1 and 10 html:p Wiskott-Aldrich syndrome is characterized by abnormal immune system function xr X-linked recessive WAS https://ghr.nlm.nih.gov/gene/WAS eczema-thrombocytopenia-immunodeficiency syndrome db key 2013-02 2017-12-29
Wiskott-Aldrich 氏综合症 cases per million males worldwide; this condition is rarer in females. (immune deficiency) and a reduced ability to form blood clots. This condition IMD2 GTR C0043194
Wiskott-Aldrich 症候群 primarily affects males. immunodeficiency 2 db key
(Blood) html:p Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a Wiskott syndrome GeneReviews was
decrease in the number and size of blood cell fragments involved in clotting db key
(platelets). This platelet abnormality, which is typically present from birth, ICD-10-CM D82.0
can lead to easy bruising or episodes of prolonged bleeding following minor db key
trauma. MeSH D014923
html:p Wiskott-Aldrich syndrome causes many types of white blood cells, which are part db key
of the immune system, to be abnormal or nonfunctional, leading to an increased OMIM 301000
risk of several immune and inflammatory disorders. Many people with this db key
condition develop eczema, an inflammatory skin disorder characterized by Orphanet 906
abnormal patches of red, irritated skin. Affected individuals also have an db key
increased susceptibility to infection. People with Wiskott-Aldrich syndrome are SNOMED CT 36070007
at greater risk of developing autoimmune disorders, which occur when the immune
system malfunctions and attacks the body's own tissues and organs. The chance of
developing some types of cancer, such as cancer of the immune system cells
(lymphoma), is also greater in people with Wiskott-Aldrich syndrome.
related-gene-list
Wolf-Hirschhorn syndrome https://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 html:p Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The n not inherited LETM1 https://ghr.nlm.nih.gov/gene/LETM1 4p deletion syndrome db key 2012-04 2017-12-29
沃夫——賀許宏氏症 births. However, this may be an underestimate because it is likely that some major features of this disorder include a characteristic facial appearance, related-gene gene-symbol ghr-page 4p- syndrome GTR C1956097
affected individuals are never diagnosed.For unknown reasons, Wolf-Hirschhorn delayed growth and development, intellectual disability, and seizures. MSX1 https://ghr.nlm.nih.gov/gene/MSX1 chromosome 4p deletion syndrome db key
syndrome occurs in about twice as many females as males. html:p Almost everyone with this disorder has distinctive facial features, including a related-gene gene-symbol ghr-page chromosome 4p monosomy GeneReviews whs
broad, flat nasal bridge and a high forehead. This combination is described as NSD2 https://ghr.nlm.nih.gov/gene/NSD2 del(4p) syndrome db key
a "Greek warrior helmet" appearance. The eyes are widely spaced and may be related-chromosome name ghr-page monosomy 4p ICD-10-CM Q93.3
protruding. Other characteristic facial features include a shortened distance 4 https://ghr.nlm.nih.gov/chromosome/4 partial monosomy 4p db key
鍾麗淇（Margaret）而言，她只希望患有Wolf–Hirschhorn Syndrome（WHS，沃夫——賀許宏氏症）的四歲女兒Isabella可以快快樂樂過每一天。 between the nose and upper lip (a short philtrum), a downturned mouth, a small WHS MeSH D054877
chin (micrognathia), and poorly formed ears with small holes (pits) or flaps of db key
skin (tags). Additionally, affected individuals may have asymmetrical facial OMIM 194190
features and an unusually small head (microcephaly). db key
html:p People with Wolf-Hirschhorn syndrome experience delayed growth and development. Orphanet 280
Slow growth begins before birth, and affected infants tend to have problems db key
feeding and gaining weight (failure to thrive). They also have weak muscle tone SNOMED CT 17122004
(hypotonia) and underdeveloped muscles. Motor skills such as sitting, standing,
and walking are significantly delayed. Most children and adults with this
disorder also have short stature.
html:p Intellectual disability ranges from mild to severe in people with
Wolf-Hirschhorn syndrome. Compared to people with other forms of intellectual
disability, their socialization skills are strong, while verbal communication
and language skills tend to be weaker. Most affected children also have
seizures, which may be resistant to treatment. Seizures tend to disappear with
age.
html:p Additional features of Wolf-Hirschhorn syndrome include skin changes such as
mottled or dry skin, skeletal abnormalities such as abnormal curvature of the
spine (scoliosis and kyphosis), dental problems including missing teeth, and an
opening in the roof of the mouth (cleft palate) and/or in the lip (cleft lip).
Wolf-Hirschhorn syndrome can also cause abnormalities of the eyes, heart,
genitourinary tract, and brain.
html:p A condition called Pitt-Rogers-Danks syndrome has features that overlap with
those of Wolf-Hirschhorn syndrome. Researchers now recognize that these two
conditions are actually part of a single syndrome with variable signs and
symptoms.
related-gene-list
Wolff-Parkinson-White syndrome https://ghr.nlm.nih.gov/condition/wolff-parkinson-white-syndrome Wolff-Parkinson-White syndrome affects 1 to 3 in 1,000 people html:p Wolff-Parkinson-White syndrome is a condition characterized by abnormal ad autosomal dominant PRKAG2 https://ghr.nlm.nih.gov/gene/PRKAG2 Ventricular pre-excitation with arrhythmia db key 2017-06 2017-12-29
沃爾夫-巴金森-懷特氏症候群 worldwide.Wolff-Parkinson-White syndrome is a common cause of an arrhythmia electrical pathways in the heart that cause a disruption of the heart's normal WPW Syndrome GTR C0043202
伍爾夫帕金氏懷特症候群 known as paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome rhythm (arrhythmia). db key
(heart) is the most frequent cause of this abnormal heart rhythm in the Chinese html:p The heartbeat is controlled by electrical signals that move through the heart in ICD-10-CM I45.6
population, where it is responsible for more than 70 percent of cases. a highly coordinated way. A specialized cluster of cells called the db key
atrioventricular node conducts electrical impulses from the heart's upper MeSH D014927
chambers (the atria) to the lower chambers (the ventricles). Impulses move db key
through the atrioventricular node during each heartbeat, stimulating the OMIM 194200
ventricles to contract slightly later than the atria. db key
html:p People with Wolff-Parkinson-White syndrome are born with an extra connection in Orphanet 907
the heart, called an accessory pathway, that allows electrical signals to bypass db key
the atrioventricular node and move from the atria to the ventricles faster than SNOMED CT 74390002
usual. The accessory pathway may also transmit electrical impulses abnormally
from the ventricles back to the atria. This extra connection can disrupt the
coordinated movement of electrical signals through the heart, leading to an
abnormally fast heartbeat (tachycardia) and other changes in heart rhythm.
Resulting symptoms include dizziness, a sensation of fluttering or pounding in
the chest (palpitations), shortness of breath, and fainting (syncope). In rare
cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to
cardiac arrest and sudden death. The most common arrhythmia associated with
Wolff-Parkinson-White syndrome is called paroxysmal supraventricular
tachycardia.
html:p Complications of Wolff-Parkinson-White syndrome can occur at any age, although
some individuals born with an accessory pathway in the heart never experience
any health problems associated with the condition.
html:p Wolff-Parkinson-White syndrome often occurs with other structural abnormalities
of the heart or underlying heart disease. The most common heart defect
associated with the condition is Ebstein anomaly, which affects the valve that
allows blood to flow from the right atrium to the right ventricle (the tricuspid
valve). Additionally, the heart rhythm problems associated with
Wolff-Parkinson-White syndrome can be a component of several other genetic
syndromes, including hypokalemic periodic paralysis (a condition that causes
episodes of extreme muscle weakness), Pompe disease (a disorder characterized by
the storage of excess glycogen), Danon disease (a condition that weakens the
heart and skeletal muscles and causes intellectual disability), and tuberous
sclerosis complex (a condition that results in the growth of noncancerous tumors
in many parts of the body).
related-gene-list
Wolfram syndrome https://ghr.nlm.nih.gov/condition/wolfram-syndrome The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people html:p Wolfram syndrome is a condition that affects many of the body's systems. The ar autosomal recessive CISD2 https://ghr.nlm.nih.gov/gene/CISD2 diabetes insipidus and mellitus with optic atrophy and deafness db key 2015-09 2017-12-29
Wolfram 症候群 worldwide. Approximately 200 cases have been described in the scientific hallmark features of Wolfram syndrome are high blood sugar levels resulting from related-gene gene-symbol ghr-page diabetes insipidus, diabetes mellitus, optic atrophy, and deafness GTR C0043207
literature. Only a few families from Jordan have been found to have Wolfram a shortage of the hormone insulin (diabetes mellitus) and progressive vision WFS1 https://ghr.nlm.nih.gov/gene/WFS1 DIDMOAD db key
syndrome type 2. loss due to degeneration of the nerves that carry information from the eyes to DIDMOAD syndrome GTR C1858028
the brain (optic atrophy). People with Wolfram syndrome often also have DIDMOADUD db key
pituitary gland dysfunction that results in the excretion of excessive amounts GeneReviews wfs
of urine (diabetes insipidus), hearing loss caused by changes in the inner ear db key
(sensorineural deafness), urinary tract problems, reduced amounts of the sex MeSH D014929
hormone testosterone in males (hypogonadism), or neurological or psychiatric db key
disorders. OMIM 222300
html:p Diabetes mellitus is typically the first symptom of Wolfram syndrome, usually db key
diagnosed around age 6. Nearly everyone with Wolfram syndrome who develops OMIM 604928
diabetes mellitus requires insulin replacement therapy. Optic atrophy is often db key
the next symptom to appear, usually around age 11. The first signs of optic Orphanet 3463
atrophy are loss of color vision and side (peripheral) vision. Over time, the db key
vision problems get worse, and people with optic atrophy are usually blind SNOMED CT 70694009
within approximately 8 years after signs of optic atrophy first begin.
html:p In diabetes insipidus, the pituitary gland, which is located at the base of the
brain, does not function normally. This abnormality disrupts the release of a
hormone called vasopressin, which helps control the body's water balance and
urine production. Approximately 70 percent of people with Wolfram syndrome have
diabetes insipidus. Pituitary gland dysfunction can also cause hypogonadism in
males. The lack of testosterone that occurs with hypogonadism affects growth and
sexual development. About 65 percent of people with Wolfram syndrome have
sensorineural deafness that can range in severity from deafness beginning at
birth to mild hearing loss beginning in adolescence that worsens over time.
Sixty to 90 percent of people with Wolfram syndrome have a urinary tract
problem. Urinary tract problems include obstruction of the ducts between the
kidneys and bladder (ureters), a large bladder that cannot empty normally
(high-capacity atonal bladder), disrupted urination (bladder sphincter
dyssynergia), and difficulty controlling the flow of urine (incontinence).
html:p About 60 percent of people with Wolfram syndrome develop a neurological or
psychiatric disorder, most commonly problems with balance and coordination
(ataxia), typically beginning in early adulthood. Other neurological problems
experienced by people with Wolfram syndrome include irregular breathing caused
by the brain's inability to control breathing (central apnea), loss of the sense
of smell, loss of the gag reflex, muscle spasms (myoclonus), seizures, reduced
sensation in the lower extremities (peripheral neuropathy), and intellectual
impairment. Psychiatric disorders associated with Wolfram syndrome include
psychosis, episodes of severe depression, and impulsive and aggressive behavior.
html:p There are two types of Wolfram syndrome with many overlapping features. The two
types are differentiated by their genetic cause. In addition to the usual
features of Wolfram syndrome, individuals with Wolfram syndrome type 2 have
stomach or intestinal ulcers and excessive bleeding after an injury. The
tendency to bleed excessively combined with the ulcers typically leads to
abnormal bleeding in the gastrointestinal system. People with Wolfram syndrome
type 2 do not develop diabetes insipidus.
html:p Wolfram syndrome is often fatal by mid-adulthood due to complications from the
many features of the condition, such as health problems related to diabetes
mellitus or neurological problems.
related-gene-list
Woodhouse-Sakati syndrome https://ghr.nlm.nih.gov/condition/woodhouse-sakati-syndrome Woodhouse-Sakati syndrome is a rare disorder; its prevalence is unknown. html:p Woodhouse-Sakati syndrome is a disorder that primarily affects the body's ar autosomal recessive DCAF17 https://ghr.nlm.nih.gov/gene/DCAF17 diabetes-hypogonadism-deafness-intellectual disability syndrome db key 2016-09 2017-12-29
Only a few dozen affected families, mostly in the Middle East, have been network of hormone-producing glands (the endocrine system) and the nervous extrapyramidal disorder, progressive, with primary hypogonadism, mental GTR C0342286
described in the medical literature. system. The signs and symptoms of this condition, which gradually get worse, retardation, and alopecia db key
vary widely among affected individuals, even within the same family. hypogonadism, alopecia, diabetes mellitus, mental retardation, and GeneReviews wss
html:p People with Woodhouse-Sakati syndrome produce abnormally low amounts of hormones extrapyramidal syndrome db key
that direct sexual development (hypogonadism), which typically becomes apparent hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and MeSH D001480
during adolescence. Without hormone replacement therapy, affected individuals extrapyramidal syndrome db key
do not develop secondary sexual characteristics such as pubic hair, breast hypogonadism, diabetes mellitus, alopecia, mental retardation and MeSH D007006
growth in females, or a deepening voice in males. Females with Woodhouse-Sakati electrocardiographic abnormalities db key
syndrome do not have functional ovaries and may instead have undeveloped clumps WSS OMIM 241080
of tissue called streak gonads. The uterus may also be small or absent in db key
affected females. Males with this disorder have testes that produce little to no Orphanet 3464
sperm. As a result, people with Woodhouse-Sakati syndrome usually have an db key
inability to conceive children (infertility). SNOMED CT 237616002
html:p By their mid-twenties, almost all affected individuals develop diabetes
mellitus, and they may also have reduced production of thyroid hormones
(hypothyroidism). People with Woodhouse-Sakati syndrome also experience hair
loss beginning in childhood that gradually gets worse, often resulting in the
loss of all scalp hair (alopecia totalis) during adulthood. Eyelashes and
eyebrows are sparse or absent, and affected men have little or no facial hair.
Some affected individuals have additional characteristic facial features
including a long, triangular face; widely spaced eyes (hypertelorism); and a
prominent bridge of the nose.
html:p More than half of people with Woodhouse-Sakati syndrome have neurological
problems. A group of movement abnormalities called dystonias are common in
affected individuals, generally beginning in adolescence or young adulthood.
These movement abnormalities can include involuntary tensing of the muscles
(muscle contractions) or twisting of specific body parts such as an arm or a
leg. Other neurological features can include difficulty with speech (dysarthria)
or swallowing (dysphagia), mild intellectual disability, and hearing loss
caused by changes in the inner ears (sensorineural hearing loss). The hearing
problems develop after the individual has acquired spoken language
(post-lingual), usually in adolescence.
html:p In some affected individuals, abnormal deposits of iron in the brain have been
detected with medical imaging. For this reason, Woodhouse-Sakati syndrome is
sometimes classified as part of a group of disorders called neurodegeneration
with brain iron accumulation (NBIA).
related-gene-list
X-linked acrogigantism https://ghr.nlm.nih.gov/condition/x-linked-acrogigantism X-LAG is thought to be a rare condition, although the prevalence is not html:p X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth ad autosomal dominant GPR101 https://ghr.nlm.nih.gov/gene/GPR101 chromosome Xq26 microduplication syndrome db key 2017-11 2017-12-29
known. It occurs more frequently in females than in males. X-LAG accounts for beginning early in life. Babies with this condition are a normal size at birth related-chromosome name ghr-page chromosome Xq26.3 duplication syndrome GTR C3891556
one in ten cases of abnormally fast growth in children that is caused by but begin to grow rapidly in infancy or early childhood, and affected children X https://ghr.nlm.nih.gov/chromosome/X X-LAG db key
pituitary gland abnormalities (pituitary gigantism). are taller than their peers. X-linked acrogigantism syndrome MeSH D005877
html:p This rapid growth is caused by an abnormality of the pituitary gland. The XLAG db key
pituitary gland, which is found at the base of the brain, produces hormones that OMIM 300942
control many important body functions, including growth. Individuals with X-LAG db key
may have the condition as a result of enlargement (hyperplasia) of the gland or Orphanet 448372
development of a noncancerous tumor in the gland (called a pituitary adenoma).
Rarely, an affected individual has both pituitary hyperplasia and an adenoma.
The abnormal gland releases excess amounts of growth hormone, a hormone that
normally helps direct growth of the body's bones and tissues. Some people with
X-LAG also have excess amounts of a hormone called growth hormone releasing
hormone (GHRH), which is produced by a part of the brain called the
hypothalamus. This hormone stimulates the release of growth hormone from the
pituitary gland.
html:p Some people with X-LAG have additional signs and symptoms such as facial
features that are described as coarse; disproportionately large hands or feet
(acral enlargement); an increased appetite; and a skin condition called
acanthosis nigricans, in which the skin in body folds and creases becomes thick,
dark, and velvety.
related-gene-list
X-linked adrenal hypoplasia congenita https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita X-linked adrenal hypoplasia congenita appears to be an uncommon condition. html:p X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. xr X-linked recessive NR0B1 https://ghr.nlm.nih.gov/gene/NR0B1 Adrenal hypoplasia congenita db key 2008-04 2017-12-29
性染色體隱性遺傳型先天性腎上腺發育不良 It has been reported to affect approximately 1 in 12,500 newborns, but this is It involves many hormone-producing (endocrine) tissues in the body, particularly X-linked AHC GTR C0342482
(Hormone) likely an overestimate. The true prevalence of this condition is unknown. a pair of small glands on top of each kidney called the adrenal glands. These db key
glands produce a variety of hormones that regulate many essential functions in GeneReviews ahc
the body. db key
html:p One of the main signs of this disorder is adrenal insufficiency, which occurs MeSH D000307
when the adrenal glands do not produce enough hormones. Adrenal insufficiency db key
typically begins in infancy or childhood and can cause vomiting, difficulty with OMIM 300200
feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If db key
untreated, these complications are often life-threatening. Orphanet 95702
html:p Affected males may also have a shortage of male sex hormones, which leads to db key
underdeveloped reproductive tissues, undescended testicles (cryptorchidism), SNOMED CT 237764004
delayed puberty, and an inability to father children (infertility). Together,
these characteristics are known as hypogonadotropic hypogonadism.
html:p The onset and severity of these signs and symptoms can vary, even among affected
members of the same family.
related-gene-list
X-linked adrenoleukodystrophy https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy The prevalence of X-linked adrenoleukodystrophy is 1 in 20,000 to 50,000 html:p X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in xr X-linked recessive ABCD1 https://ghr.nlm.nih.gov/gene/ABCD1 Addison disease and cerebral sclerosis db key 2013-07 2017-12-29
腎上腺腦白質失養症 individuals worldwide. This condition occurs with a similar frequency in all males. It mainly affects the nervous system and the adrenal glands, which are melanodermic leukodystrophy GTR C0162309
populations. small glands located on top of each kidney. In this disorder, the fatty covering Schilder-Addison Complex db key
(myelin) that insulates nerves in the brain and spinal cord is prone to Schilder disease GeneReviews x-ald
deterioration (demyelination), which reduces the ability of the nerves to relay Siemerling-Creutzfeldt disease db key
information to the brain. In addition, damage to the outer layer of the adrenal X-ALD ICD-10-CM E71.52
glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical db key
insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, ICD-10-CM E71.520
skin changes, vomiting, and coma. db key
html:p There are three distinct types of X-linked adrenoleukodystrophy: a childhood ICD-10-CM E71.521
cerebral form, an adrenomyeloneuropathy type, and a form called Addison disease db key
only. ICD-10-CM E71.522
html:p Children with the cerebral form of X-linked adrenoleukodystrophy experience db key
learning and behavioral problems that usually begin between the ages of 4 and ICD-10-CM E71.528
10. Over time the symptoms worsen, and these children may have difficulty db key
reading, writing, understanding speech, and comprehending written material. ICD-10-CM E71.529
Additional signs and symptoms of the cerebral form include aggressive behavior, db key
vision problems, difficulty swallowing, poor coordination, and impaired adrenal MeSH D000326
gland function. The rate at which this disorder progresses is variable but can db key
be extremely rapid, often leading to total disability within a few years. The OMIM 300100
life expectancy of individuals with this type depends on the severity of the db key
signs and symptoms and how quickly the disorder progresses. Individuals with the Orphanet 43
cerebral form of X-linked adrenoleukodystrophy usually survive only a few years db key
after symptoms begin but may survive longer with intensive medical support. SNOMED CT 3.7E+14
html:p Signs and symptoms of the adrenomyeloneuropathy type appear between early db key
adulthood and middle age. Affected individuals develop progressive stiffness and SNOMED CT 3.7E+14
weakness in their legs (paraparesis), experience urinary and genital tract db key
disorders, and often show changes in behavior and thinking ability. Most people SNOMED CT 65389002
with the adrenomyeloneuropathy type also have adrenocortical insufficiency. In
some severely affected individuals, damage to the brain and nervous system can
lead to early death.
html:p People with X-linked adrenoleukodystrophy whose only symptom is adrenocortical
insufficiency are said to have the Addison disease only form. In these
individuals, adrenocortical insufficiency can begin anytime between childhood
and adulthood. However, most affected individuals develop the additional
features of the adrenomyeloneuropathy type by the time they reach middle age.
The life expectancy of individuals with this form depends on the severity of the
signs and symptoms, but typically this is the mildest of the three types.
html:p Rarely, individuals with X-linked adrenoleukodystrophy develop multiple features
of the disorder in adolescence or early adulthood. In addition to
adrenocortical insufficiency, these individuals usually have psychiatric
disorders and a loss of intellectual function (dementia). It is unclear whether
these individuals have a distinct form of the condition or a variation of one of
the previously described types.
html:p For reasons that are unclear, different forms of X-linked adrenoleukodystrophy
can be seen in affected individuals within the same family.
related-gene-list
X-linked agammaglobulinemia https://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia XLA occurs in approximately 1 in 200,000 newborns. html:p X-linked agammaglobulinemia (XLA) is a condition that affects the immune system xr X-linked recessive BTK https://ghr.nlm.nih.gov/gene/BTK agammaglobulinemia db key 2015-02 2017-12-29
Bruton Disease and occurs almost exclusively in males. People with XLA have very few B cells, Bruton's agammaglobulinemia GTR C0221026
布魯頓式低免疫球蛋白症 which are specialized white blood cells that help protect the body against congenital agammaglobulinemia db key
infection. B cells can mature into the cells that produce special proteins hypogammaglobulinemia GeneReviews xla
called antibodies or immunoglobulins. Antibodies attach to specific foreign XLA db key
particles and germs, marking them for destruction. Individuals with XLA are more ICD-10-CM D80.0
susceptible to infections because their body makes very few antibodies. db key
html:p Children with XLA are usually healthy for the first 1 or 2 months of life MeSH D000361
because they are protected by antibodies acquired before birth from their db key
mother. After this time, the maternal antibodies are cleared from the body, and OMIM 300755
the affected child begins to develop recurrent infections. In children with XLA, db key
infections generally take longer to get better and then they come back again, Orphanet 47
even with antibiotic medications. The most common bacterial infections that db key
occur in people with XLA are lung infections (pneumonia and bronchitis), ear SNOMED CT 65880007
infections (otitis), pink eye (conjunctivitis), and sinus infections
(sinusitis). Infections that cause chronic diarrhea are also common. Recurrent
infections can lead to organ damage. People with XLA can develop severe,
life-threatening bacterial infections; however, affected individuals are not
particularly vulnerable to infections caused by viruses. With treatment to
replace antibodies, infections can usually be prevented, improving the quality
of life for people with XLA.
related-gene-list
X-linked cardiac valvular dysplasia https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia The prevalence of X-linked cardiac valvular dysplasia is unknown. html:p X-linked cardiac valvular dysplasia is a condition characterized by the abnormal x X-linked FLNA https://ghr.nlm.nih.gov/gene/FLNA congenital valvular heart disease db key 2016-08 2017-12-29
(Heart) Approximately 3 percent of the population has a heart valve defect, only a small development (dysplasia) of heart (cardiac) valves. The normal heart has four CVD1 GTR C0262436
fraction of which are associated with X-linked cardiac valvular dysplasia. valves, two on the left side of the heart and two on the right side, that allow filamin-A-associated myxomatous mitral valve disease db key
blood to move through the heart and prevent blood from flowing backward. In filamin-A-related myxomatous mitral valve dystrophy MeSH D016127
X-linked cardiac valvular dysplasia, one or more of the four heart valves is X-linked myxomatous valvular dystrophy db key
thickened and cannot open and close completely when the heart beats and pumps XMVD OMIM 314400
blood. These malformed valves can cause abnormal blood flow and an irregular db key
heart sound during a heartbeat (heart murmur). SNOMED CT 5203004
html:p The signs and symptoms of X-linked cardiac valvular dysplasia vary greatly among
affected individuals. Some people have no health problems, while in others
blood can leak through the thickened and partially closed valves. This valve
leakage (regurgitation) typically affects the mitral valve, which connects the
two left chambers of the heart, or the aortic valve, which regulates blood flow
from the heart into the large artery called the aorta. Valve regurgitation
forces the heart to pump harder to move blood through the heart. As a result,
affected individuals may develop chest pains, shortness of breath, or
lightheadedness.
html:p In X-linked cardiac valvular dysplasia, the mitral or aortic valve can also be
prolapsed, which means that the valve is weak or floppy. Valve prolapse further
prevents the thickened valve from closing properly and can lead to valve
regurgitation. Other rare complications of X-linked cardiac valvular dysplasia
include inflammation of the inner lining of the heart (endocarditis), abnormal
blood clots, or sudden death.
html:p X-linked cardiac valvular dysplasia can be diagnosed anytime from birth (in some
cases prenatally) to late adulthood but is typically diagnosed in early to
mid-adulthood because valve malformation is often a slow process. This condition
affects males more often and more severely than females.
related-gene-list
X-linked chondrodysplasia punctata 1 https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-1 The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several html:p X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone xr X-linked recessive ARSE https://ghr.nlm.nih.gov/gene/ARSE arylsulfatase E deficiency db key 2011-11 2017-12-29
dozen affected males have been reported in the scientific literature. development that occurs almost exclusively in males. Chondrodysplasia punctata CDPX1 GTR C1844853
is an abnormality that appears on x-rays as spots (stippling) near the ends of chondrodysplasia punctata 1, X-linked db key
bones and in cartilage. In most infants with X-linked chondrodysplasia punctata X-linked recessive chondrodysplasia punctata 1 GeneReviews cdp1-xlr
1, this stippling is seen in bones of the ankles, toes, and fingers; however, it db key
can also appear in other bones. The stippling generally disappears in early ICD-10-CM Q77.3
childhood. db key
html:p Other characteristic features of X-linked chondrodysplasia punctata 1 include MeSH D002806
short stature and unusually short fingertips and ends of the toes. This db key
condition is also associated with distinctive facial features, particularly a OMIM 302950
flattened-appearing nose with crescent-shaped nostrils and a flat nasal bridge. db key
html:p People with X-linked chondrodysplasia punctata 1 typically have normal Orphanet 79345
intelligence and a normal life expectancy. However, some affected individuals db key
have had serious or life-threatening complications including abnormal thickening SNOMED CT 254082007
(stenosis) of the cartilage that makes up the airways, which restricts
breathing. Also, abnormalities of spinal bones in the neck can lead to pinching
(compression) of the spinal cord, which can cause pain, numbness, and weakness.
Other, less common features of X-linked chondrodysplasia punctata 1 include
delayed development, hearing loss, vision abnormalities, and heart defects.
related-gene-list
X-linked chondrodysplasia punctata 2 https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2 X-linked chondrodysplasia punctata 2 has been estimated to affect fewer html:p X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, xd X-linked dominant EBP https://ghr.nlm.nih.gov/gene/EBP CDPX2 db key 2011-11 2017-12-29
Conradi- Hünermann syndrome than 1 in 400,000 newborns. However, the disorder may actually be more common and eye abnormalities. It occurs almost exclusively in females. chondrodysplasia punctata 2, X-linked GTR C0282102
Conradi- Hünermann氏综合症 than this estimate because it is likely underdiagnosed, particularly in females html:p Although the signs and symptoms of this condition vary widely, almost all Conradi-Hünermann-Happle syndrome db key
Conradi-Hunermann症候群-性聯遺傳 with mild signs and symptoms.More than 95 percent of cases of X-linked affected individuals have chondrodysplasia punctata, an abnormality that appears Conradi-Hünermann Syndrome GeneReviews x-dcdp
chondrodysplasia punctata 2 occur in females. About a dozen males with the on x-rays as spots (stippling) near the ends of bones and in cartilage. In this Happle syndrome db key
condition have been reported in the scientific literature. form of chondrodysplasia punctata, the stippling typically affects the long X-linked dominant chondrodysplasia punctata ICD-10-CM Q77.3
bones in the arms and legs, the ribs, the spinal bones (vertebrae), and the db key
cartilage that makes up the windpipe (trachea). The stippling is apparent in MeSH D002806
infancy but disappears in early childhood. Other skeletal abnormalities seen in db key
people with X-linked chondrodysplasia punctata 2 include shortening of the bones OMIM 302960
in the upper arms and thighs (rhizomelia) that is often different on the right db key
and left sides, and progressive abnormal curvature of the spine Orphanet 35173
(kyphoscoliosis). As a result of these abnormalities, people with this condition db key
tend to have short stature. SNOMED CT 398719004
html:p Infants with X-linked chondrodysplasia punctata 2 are born with dry, scaly
patches of skin (ichthyosis) in a linear or spiral (whorled) pattern. The scaly
patches fade over time, leaving abnormally colored blotches of skin without
hair (follicular atrophoderma). Most affected individuals also have sparse,
coarse hair on their scalps.
html:p Most people with X-linked chondrodysplasia punctata 2 have clouding of the lens
of the eye (cataracts) from birth or early childhood. Other eye abnormalities
that have been associated with this disorder include unusually small eyes
(microphthalmia) and small corneas (microcornea). The cornea is the clear front
surface of the eye. These eye abnormalities can impair vision.
html:p In affected females, X-linked chondrodysplasia punctata 2 is typically
associated with normal intelligence and a normal lifespan. However, a much more
severe form of the condition has been reported in a small number of males.
Affected males have some of the same features as affected females, as well as
weak muscle tone (hypotonia), changes in the structure of the brain, moderately
to profoundly delayed development, seizures, distinctive facial features, and
other birth defects. The health problems associated with X-linked
chondrodysplasia punctata 2 are often life-threatening in males.
related-gene-list
X-linked congenital stationary night blindness https://ghr.nlm.nih.gov/condition/x-linked-congenital-stationary-night-blindness The prevalence of this condition is unknown. It appears to be more common html:p X-linked congenital stationary night blindness is a disorder of the retina, xr X-linked recessive CACNA1F https://ghr.nlm.nih.gov/gene/CACNA1F X-linked CSNB db key 2009-05 2017-12-29
in people of Dutch-German Mennonite descent. However, this disorder has been which is the specialized tissue at the back of the eye that detects light and related-gene gene-symbol ghr-page XLCSNB GTR C0339535
reported in families with many different ethnic backgrounds. The incomplete form color. People with this condition typically have difficulty seeing in low light NYX https://ghr.nlm.nih.gov/gene/NYX db key
is more common than the complete form. (night blindness). They also have other vision problems, including loss of GTR C1839601
sharpness (reduced acuity), severe nearsightedness (high myopia), involuntary db key
movements of the eyes (nystagmus), and eyes that do not look in the same GTR C1848172
direction (strabismus). Color vision is typically not affected by this disorder. db key
html:p The vision problems associated with this condition are congenital, which means GeneReviews csnb
they are present from birth. They tend to remain stable (stationary) over time. db key
html:p Researchers have identified two major types of X-linked congenital stationary ICD-10-CM H53.63
night blindness: the complete form and the incomplete form. The types have very db key
similar signs and symptoms. However, everyone with the complete form has night MeSH D009755
blindness, while not all people with the incomplete form have night blindness. db key
The types are distinguished by their genetic cause and by the results of a test OMIM 300071
called an electroretinogram, which measures the function of the retina. db key
OMIM 310500
db key
Orphanet 215
db key
related-gene-list SNOMED CT 232061009
X-linked creatine deficiency https://ghr.nlm.nih.gov/condition/x-linked-creatine-deficiency The prevalence of X-linked creatine deficiency is unknown. More than 150 html:p X-linked creatine deficiency is an inherited disorder that primarily affects the x X-linked SLC6A8 https://ghr.nlm.nih.gov/gene/SLC6A8 creatine transporter defect db key 2015-06 2017-12-29
X連鎖肌酸缺乏症 affected individuals have been identified. The disorder has been estimated to brain. People with this disorder have intellectual disability, which can range creatine transporter deficiency GTR C1845862
account for between 1 and 2 percent of males with intellectual disability. from mild to severe, and delayed speech development. Some affected individuals SLC6A8 deficiency db key
develop behavioral disorders such as attention deficit hyperactivity disorder or SLC6A8-related creatine transporter deficiency GeneReviews creatine
autistic behaviors that affect communication and social interaction. They may X-linked creatine deficiency syndrome db key
also experience seizures. Children with X-linked creatine deficiency may MeSH D020739
experience slow growth and exhibit delayed development of motor skills such as db key
sitting and walking. Affected individuals tend to tire easily. OMIM 300352
html:p A small number of people with X-linked creatine deficiency have additional signs db key
and symptoms including abnormal heart rhythms, an unusually small head Orphanet 52503
(microcephaly), or distinctive facial features such as a broad forehead and a db key
flat or sunken appearance of the middle of the face (midface hypoplasia). SNOMED CT 698290008
inheritance-pattern-list related-gene-list
X-linked dilated cardiomyopathy https://ghr.nlm.nih.gov/condition/x-linked-dilated-cardiomyopathy X-linked dilated cardiomyopathy appears to be an uncommon condition, html:p X-linked dilated cardiomyopathy is a form of heart disease. Dilated xd X-linked dominant DMD synonym db-key db key 2017-02 2017-12-29
(heart) although its prevalence is unknown. cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the synonym GTR C3668940
heart from pumping blood efficiently. Signs and symptoms of this condition can synonym db-key db key
include an irregular heartbeat (arrhythmia), shortness of breath, extreme synonym GeneReviews dbmd
tiredness (fatigue), and swelling of the legs and feet. In males with X-linked synonym db-key db key
dilated cardiomyopathy, heart problems usually develop early in life and worsen synonym GeneReviews dcm-ov
quickly, leading to heart failure in adolescence or early adulthood. In affected db-key db key
females, the condition appears later in life and worsens more slowly. ICD-10-CM I42.0
html:p X-linked dilated cardiomyopathy is part of a spectrum of related conditions db-key db key
html:i MeSH D002311
DMD db-key db key
OMIM 302045
db-key db key
Orphanet 154
db-key db key
SNOMED CT 702424003
related-gene-list
X-linked dystonia-parkinsonism https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism X-linked dystonia-parkinsonism has been reported in more than 500 people of html:p X-linked dystonia-parkinsonism is a movement disorder that has been found only xr X-linked recessive TAF1 https://ghr.nlm.nih.gov/gene/TAF1 Dystonia 3, torsion, X-linked db key 2008-12 2017-12-29
X連鎖肌張力障礙 - 帕金森病 Filipino descent, although it is likely that many more Filipinos are affected. in people of Filipino descent. This condition affects men much more often than dystonia musculorum deformans GTR C1839130
Most people with this condition can trace their mother's ancestry to the island women. Dystonia-parkinsonism, X-linked db key
of Panay in the Philippines. The prevalence of the disorder is 5.24 per html:p Parkinsonism is usually the first sign of X-linked dystonia-parkinsonism. DYT3 GeneReviews xdp
100,000 people on the island of Panay. Parkinsonism is a group of movement abnormalities including tremors, unusually Lubag db key
slow movement (bradykinesia), rigidity, an inability to hold the body upright Torsion dystonia-parkinsonism, Filipino type MeSH D020734
and balanced (postural instability), and a shuffling gait that can cause X-linked dystonia-parkinsonism syndrome db key
recurrent falls. X-linked torsion dystonia-parkinsonism syndrome OMIM 314250
html:p Later in life, many affected individuals also develop a pattern of involuntary, XDP db key
sustained muscle contractions known as dystonia. The dystonia associated with Orphanet 53351
X-linked dystonia-parkinsonism typically starts in one area, most often the db key
eyes, jaw, or neck, and later spreads to other parts of the body. The SNOMED CT 698279003
continuous muscle cramping and spasms can be disabling. Depending on which
muscles are affected, widespread (generalized) dystonia can cause difficulty
with speaking, swallowing, coordination, and walking.
html:p The signs and symptoms of X-linked dystonia-parkinsonism vary widely. In the
mildest cases, affected individuals have slowly progressive parkinsonism with
little or no dystonia. More severe cases involve dystonia that rapidly becomes
generalized. These individuals become dependent on others for care within a few
years after signs and symptoms appear, and they may die prematurely from
breathing difficulties, infections (such as aspiration pneumonia), or other
complications.
X-Linked Familial Exudative Vitreoretinopathy
家族性滲出性玻璃體視網膜病變
related-gene-list
X-linked hyper IgM syndrome https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome X-linked hyper IgM syndrome is estimated to occur in 2 per million newborn html:p X-linked hyper IgM syndrome is a condition that affects the immune system and xr X-linked recessive CD40LG https://ghr.nlm.nih.gov/gene/CD40LG HIGM1 db key 2013-04 2017-12-29
Hyper-IgM Syndrome 1 boys. occurs almost exclusively in males. People with this disorder have abnormal Hyper-IgM syndrome 1 GTR C0398689
高免疫球蛋白M症候群第一型 levels of proteins called antibodies or immunoglobulins. Antibodies help protect Immunodeficiency with Hyper-IgM, type 1 db key
the body against infection by attaching to specific foreign particles and GeneReviews xlhi
germs, marking them for destruction. There are several classes of antibodies, db key
and each one has a different function in the immune system. Although the name of ICD-10-CM D80.5
this condition implies that affected individuals always have high levels of db key
immunoglobulin M (IgM), some people have normal levels of this antibody. People MeSH D053307
with X-linked hyper IgM syndrome have low levels of three other classes of db key
antibodies: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin E OMIM 308230
(IgE). The lack of certain antibody classes makes it difficult for people with db key
this disorder to fight off infections. SNOMED CT 403835002
html:p Individuals with X-linked hyper IgM syndrome begin to develop frequent
infections in infancy and early childhood. Common infections include pneumonia,
sinus infections (sinusitis), and ear infections (otitis). Infections often
cause these children to have chronic diarrhea and they fail to gain weight and
grow at the expected rate (failure to thrive). Some people with X-linked hyper
IgM syndrome have low levels of white blood cells called neutrophils
(neutropenia). Affected individuals may develop autoimmune disorders, neurologic
complications from brain and spinal cord (central nervous system) infections,
liver disease, and gastrointestinal tumors. They also have an increased risk of
lymphoma, which is a cancer of immune system cells.
html:p The severity of X-linked hyper IgM syndrome varies among affected individuals,
even among members of the same family. Without treatment, this condition can
result in death during childhood or adolescence.
X-Linked Hypohidrotic Ectodermal Dysplasia
X-性聯遺傳少汗性外胚層發育不良
X-linked Hypophosphatemic Rickets
性聯遺傳低磷酸鹽佝僂症
related-gene-list
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia https://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defec The prevalence of XMEN is unknown. Only a few affected individuals have html:p X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, xr X-linked recessive MAGT1 https://ghr.nlm.nih.gov/gene/MAGT1 immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection, db key 2014-06 2017-12-29
t-epstein-barr-virus-infection-and-neoplasia been described in the medical literature. and neoplasia (typically known by the acronym XMEN) is a disorder that affects and neoplasia GTR C3275445
the immune system in males. In XMEN, certain types of immune system cells called XMEN db key
T cells are reduced in number or do not function properly. Normally these cells MeSH D008231
recognize foreign invaders, such as viruses, bacteria, and fungi, and are then db key
turned on (activated) to attack these invaders in order to prevent infection and OMIM 300853
illness. Because males with XMEN do not have enough functional T cells, they db key
have frequent infections, such as ear infections, sinus infections, and Orphanet 317476
pneumonia. db key
html:p In particular, affected individuals are vulnerable to the Epstein-Barr virus SNOMED CT 711481001
(EBV). EBV is a very common virus that infects more than 90 percent of the
general population and in most cases goes unnoticed. Normally, after initial
infection, EBV remains in the body for the rest of a person's life. However, the
virus is generally inactive (latent) because it is controlled by T cells. In
males with XMEN, however, the T cells cannot control the virus, and EBV
infection can lead to cancers of immune system cells (lymphomas). The word
"neoplasia" in the condition name refers to these lymphomas; neoplasia is a
general term meaning abnormal growths of tissue. The EBV infection itself
usually does not cause any other symptoms in males with XMEN, and affected
individuals may not come to medical attention until they develop lymphoma.
related-gene-list
X-linked infantile nystagmus https://ghr.nlm.nih.gov/condition/x-linked-infantile-nystagmus The incidence of all forms of infantile nystagmus is estimated to be 1 in html:p X-linked infantile nystagmus is a condition characterized by abnormal eye x X-linked FRMD7 https://ghr.nlm.nih.gov/gene/FRMD7 congenital motor nystagmus db key 2009-09 2017-12-29
FRMD7-Related Infantile Nystagmus 5,000 newborns; however, the precise incidence of X-linked infantile nystagmus movements. Nystagmus is a term that refers to involuntary side-to-side FRMD7-related infantile nystagmus GTR C1839580
先天性眼球震顫 is unknown. movements of the eyes. In people with this condition, nystagmus is present at idiopathic infantile nystagmus db key
birth or develops within the first six months of life. The abnormal eye NYS1 GeneReviews xl-nystag
movements may worsen when an affected person is feeling anxious or tries to X-linked congenital nystagmus db key
stare directly at an object. The severity of nystagmus varies, even among X-linked idiopathic infantile nystagmus ICD-10-CM H55.01
affected individuals within the same family. Sometimes, affected individuals db key
will turn or tilt their head to compensate for the irregular eye movements. MeSH D020417
db key
OMIM 310700
db key
Orphanet 651
db key
SNOMED CT 307671001
db key
related-gene-list SNOMED CT 64635004
X-linked intellectual disability, Siderius type https://ghr.nlm.nih.gov/condition/x-linked-intellectual-disability-siderius-type While X-linked intellectual disability of all types and causes is html:p X-linked intellectual disability, Siderius type is a condition characterized by xr X-linked recessive PHF8 https://ghr.nlm.nih.gov/gene/PHF8 MRXSSD db key 2015-06 2017-12-29
赛得瑞斯型X连锁智力缺陷 relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence mild to moderate intellectual disability that affects only males. Affected boys Siderius-Hamel syndrome GTR C1846055
of the Siderius type is unknown. Only a few affected families have been often have delayed development of motor skills such as walking, and their speech Siderius X-linked mental retardation syndrome db key
described in the scientific literature. may be delayed. syndromic X-linked mental retardation, Siderius type MeSH D038901
html:p Individuals with X-linked intellectual disability, Siderius type frequently also X-linked mental retardation Hamel type db key
have an opening in the lip (cleft lip) with an opening in the roof of the mouth X-linked mental retardation Siderius type OMIM 300263
(cleft palate). A cleft can occur on one or both sides of the upper lip. db key
html:p Some boys and men with this condition have distinctive facial features, Orphanet 85287
including a long face, a sloping forehead, a broad nasal bridge, a prominent db key
bone in the lower forehead (supraorbital ridge), and outside corners of the eyes SNOMED CT 718908009
that point upward (upslanting palpebral fissures). Affected individuals may
also have low-set ears and large hands.
related-gene-list
X-linked juvenile retinoschisis https://ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis The prevalence of X-linked juvenile retinoschisis is estimated to be 1 in html:p X-linked juvenile retinoschisis is a condition characterized by impaired vision xr X-linked recessive RS1 https://ghr.nlm.nih.gov/gene/RS1 congenital X-linked retinoschisis db key 2015-03 2017-12-29
青年型X-性聯遺傳視網膜裂損症/視覺黃斑症 5,000 to 25,000 men worldwide. that begins in childhood and occurs almost exclusively in males. This disorder degenerative retinoschisis GTR C0271091
affects the retina, which is a specialized light-sensitive tissue that lines the juvenile retinoschisis db key
back of the eye. Damage to the retina impairs the sharpness of vision (visual X-linked retinoschisis GeneReviews retinoschisis
acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells XJR db key
in the central area of the retina called the macula. The macula is responsible MeSH D041441
for sharp central vision, which is needed for detailed tasks such as reading, db key
driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a OMIM 312700
broader disorder called macular degeneration, which disrupts the normal db key
functioning of the macula. Occasionally, side (peripheral) vision is affected in Orphanet 792
people with X-linked juvenile retinoschisis. db key
html:p X-linked juvenile retinoschisis is usually diagnosed when affected boys start SNOMED CT 232013002
school and poor vision and difficulty with reading become apparent. In more db key
severe cases, eye squinting and involuntary movement of the eyes (nystagmus) SNOMED CT 232014008
begin in infancy. Other early features of X-linked juvenile retinoschisis db key
include eyes that do not look in the same direction (strabismus) and SNOMED CT 86923008
farsightedness (hyperopia). Visual acuity often declines in childhood and db key
adolescence but then stabilizes throughout adulthood until a significant decline SNOMED CT 95493003
in visual acuity typically occurs in a man's fifties or sixties. Sometimes,
severe complications develop, such as separation of the retinal layers (retinal
detachment) or leakage of blood vessels in the retina (vitreous hemorrhage).
These eye abnormalities can further impair vision or cause blindness.
related-gene-list
X-linked lissencephaly with abnormal genitalia https://ghr.nlm.nih.gov/condition/x-linked-lissencephaly-with-abnormal-genitalia The incidence of XLAG is unknown; approximately 30 affected families have html:p X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that xd X-linked dominant ARX https://ghr.nlm.nih.gov/gene/ARX LISX2 db key 2013-08 2017-12-29
been described in the medical literature. affects the development of the brain and genitalia. It occurs most often in X-linked lissencephaly 2 GTR C1846171
males. X-linked lissencephaly with ambiguous genitalia db key
html:p XLAG is characterized by abnormal brain development that results in the brain XLAG ICD-10-CM Q04.3
having a smooth appearance (lissencephaly) instead of its normal folds and XLISG db key
grooves. Individuals without any folds in the brain (agyria) typically have more MeSH D054221
severe symptoms than people with reduced folds and grooves (pachygyria). db key
Individuals with XLAG may also have a lack of development (agenesis) of the OMIM 300215
tissue connecting the left and right halves of the brain (corpus callosum). The db key
brain abnormalities can cause severe intellectual disability and developmental Orphanet 452
delay, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and db key
feeding difficulties. Starting soon after birth, babies with XLAG have frequent SNOMED CT 717632002
and recurrent seizures (epilepsy). Most children with XLAG do not survive past
early childhood.
html:p Another key feature of XLAG in males is abnormal genitalia that can include an
unusually small penis (micropenis), undescended testes (cryptorchidism), or
external genitalia that do not look clearly male or clearly female (ambiguous
genitalia).
html:p Additional signs and symptoms of XLAG include chronic diarrhea, periods of
increased blood sugar (transient hyperglycemia), and problems with body
temperature regulation.
related-gene-list
X-linked lymphoproliferative disease https://ghr.nlm.nih.gov/condition/x-linked-lymphoproliferative-disease XLP1 is estimated to occur in about 1 per million males worldwide. XLP2 is html:p X-linked lymphoproliferative disease (XLP) is a disorder of the immune system xr X-linked recessive SH2D1A https://ghr.nlm.nih.gov/gene/SH2D1A Duncan disease db key 2014-11 2017-12-29
X連鎖淋巴組織增生性疾病 less common, occurring in about 1 per 5 million males. and blood-forming cells that is found almost exclusively in males. More than related-gene gene-symbol ghr-page Epstein-Barr virus-induced lymphoproliferative disease in males GTR C1845076
half of individuals with this disorder experience an exaggerated immune response XIAP https://ghr.nlm.nih.gov/gene/XIAP familial fatal Epstein-Barr infection db key
to the Epstein-Barr virus (EBV). EBV is a very common virus that eventually Purtilo syndrome GTR C1868674
infects most humans. In some people it causes infectious mononucleosis (commonly severe susceptibility to EBV infection db key
known as "mono"). Normally, after initial infection, EBV remains in certain severe susceptibility to infectious mononucleosis GeneReviews x-lpd
immune system cells (lymphocytes) called B cells. However, the virus is X-linked lymphoproliferative syndrome db key
generally inactive (latent) because it is controlled by other lymphocytes called XLP ICD-10-CM D82.3
T cells that specifically target EBV-infected B cells. db key
html:p People with XLP may respond to EBV infection by producing abnormally large MeSH D008232
numbers of T cells, B cells, and other lymphocytes called macrophages. This db key
proliferation of immune cells often causes a life-threatening reaction called OMIM 300635
hemophagocytic lymphohistiocytosis. Hemophagocytic lymphohistiocytosis causes db key
fever, destroys blood-producing cells in the bone marrow, and damages the liver. OMIM 308240
The spleen, heart, kidneys, and other organs and tissues may also be affected. db key
In some individuals with XLP, hemophagocytic lymphohistiocytosis or related Orphanet 2442
symptoms may occur without EBV infection. db key
html:p About one-third of people with XLP experience dysgammaglobulinemia, which means SNOMED CT 77121009
they have abnormal levels of some types of antibodies. Antibodies (also known as
immunoglobulins) are proteins that attach to specific foreign particles and
germs, marking them for destruction. Individuals with dysgammaglobulinemia are
prone to recurrent infections.
html:p Cancers of immune system cells (lymphomas) occur in about one-third of people
with XLP.
html:p Without treatment, most people with XLP survive only into childhood. Death
usually results from hemophagocytic lymphohistiocytosis.
html:p XLP can be divided into two types based on its genetic cause and pattern of
signs and symptoms: XLP1 (also known as classic XLP) and XLP2. People with XLP2
have not been known to develop lymphoma, are more likely to develop
hemophagocytic lymphohistiocytosis without EBV infection, usually have an
enlarged spleen (splenomegaly), and may also have inflammation of the large
intestine (colitis). Some researchers believe that these individuals should
actually be considered to have a similar but separate disorder rather than a
type of XLP.
related-gene-list
X-linked myotubular myopathy, XLMTM https://ghr.nlm.nih.gov/condition/x-linked-myotubular-myopathy The incidence of X-linked myotubular myopathy is estimated to be 1 in html:p X-linked myotubular myopathy is a condition that primarily affects muscles used xr X-linked recessive MTM1 https://ghr.nlm.nih.gov/gene/MTM1 CNM db key 2014-07 2017-12-29
性聯遺傳肌小管病變 50,000 newborn males worldwide. for movement (skeletal muscles) and occurs almost exclusively in males. People MTMX GTR C0410203
with this condition have muscle weakness (myopathy) and decreased muscle tone X-linked centronuclear myopathy db key
(hypotonia) that are usually evident at birth. XLMTM GeneReviews mtm
html:p The muscle problems in X-linked myotubular myopathy impair the development of XMTM db key
motor skills such as sitting, standing, and walking. Affected infants may also ICD-10-CM G71.2
have difficulties with feeding due to muscle weakness. Individuals with this db key
condition often do not have the muscle strength to breathe on their own and must MeSH D020914
be supported with a machine to help them breathe (mechanical ventilation). Some db key
affected individuals need breathing assistance only periodically, typically OMIM 310400
during sleep, while others require it continuously. People with X-linked db key
myotubular myopathy may also have weakness in the muscles that control eye Orphanet 596
movement (ophthalmoplegia), weakness in other muscles of the face, and absent db key
reflexes (areflexia). SNOMED CT 46804001
html:p In X-linked myotubular myopathy, muscle weakness often disrupts normal bone
development and can lead to fragile bones, an abnormal curvature of the spine
(scoliosis), and joint deformities (contractures) of the hips and knees. People
with X-linked myotubular myopathy may have a large head with a narrow and
elongated face and a high, arched roof of the mouth (palate). They may also have
liver disease, recurrent ear and respiratory infections, or seizures.
html:p Because of their severe breathing problems, individuals with X-linked myotubular
myopathy usually survive only into early childhood; however, some people with
this condition have lived into adulthood.
html:p X-linked myotubular myopathy is a member of a group of disorders called
centronuclear myopathies. In centronuclear myopathies, the nucleus is found at
the center of many rod-shaped muscle cells instead of at either end, where it is
normally located.
X-linked Ocular Albinism, Ocular Albinism type I, OA1
眼睛白化症第一型
X-linked Recessive Ichthyosis
X染色體隱性遺傳魚鱗癬_非基因缺失型
related-gene-list
X-linked severe combined immunodeficiency https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency X-linked SCID is the most common form of severe combined immunodeficiency. html:p X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the xr X-linked recessive IL2RG https://ghr.nlm.nih.gov/gene/IL2RG IL2RG SCID, T- B+ NK- db key 2016-04 2017-12-29
Its exact incidence is unknown, but the condition probably affects at least 1 immune system that occurs almost exclusively in males. Boys with X-linked SCID SCIDX1 GTR C1279481
in 50,000 to 100,000 newborns. are prone to recurrent and persistent infections because they lack the necessary X-linked SCID db key
immune cells to fight off certain bacteria, viruses, and fungi. Many infants X-SCID GeneReviews x-scid
with X-linked SCID develop chronic diarrhea, a fungal infection called thrush, XSCID db key
and skin rashes. Affected individuals also grow more slowly than other children. MeSH D053632
Without treatment, males with X-linked SCID usually do not live beyond infancy. db key
OMIM 300400
db key
Orphanet 276
db key
related-gene-list SNOMED CT 203592006
X-linked sideroblastic anemia https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia This form of anemia is uncommon. However, researchers believe that it may html:p X-linked sideroblastic anemia is an inherited disorder that prevents developing xr X-linked recessive ALAS2 https://ghr.nlm.nih.gov/gene/ALAS2 Anemia, hereditary sideroblastic db key 2009-04 2017-12-29
X连锁的铁粒细胞性贫血 not be as rare as they once thought. Increased awareness of the disease has led red blood cells (erythroblasts) from making enough hemoglobin, which is the related-gene gene-symbol ghr-page Anemia, sex-linked hypochromic sideroblastic GTR C0221018
(Blood) to more frequent diagnoses. protein that carries oxygen in the blood. People with X-linked sideroblastic HFE https://ghr.nlm.nih.gov/gene/HFE ANH1 db key
anemia have mature red blood cells that are smaller than normal (microcytic) and Congenital sideroblastic anaemia ICD-10-CM D64.0
appear pale (hypochromic) because of the shortage of hemoglobin. This disorder Erythroid 5-aminolevulinate synthase deficiency db key
also leads to an abnormal accumulation of iron in red blood cells. The Hereditary iron-loading anemia MeSH D000756
iron-loaded erythroblasts, which are present in bone marrow, are called ring X chromosome-linked sideroblastic anemia db key
sideroblasts. These abnormal cells give the condition its name. X-linked pyridoxine-responsive sideroblastic anemia OMIM 300751
html:p The signs and symptoms of X-linked sideroblastic anemia result from a XLSA db key
combination of reduced hemoglobin and an overload of iron. They range from mild Orphanet 1047
to severe and most often appear in young adulthood. Common features include db key
fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and SNOMED CT 62677000
spleen (hepatosplenomegaly). Over time, severe medical problems such as heart
disease and liver damage (cirrhosis) can result from the buildup of excess iron
in these organs.
related-gene-list
X-linked sideroblastic anemia and ataxia https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia X-linked sideroblastic anemia and ataxia is a rare disorder; only a few html:p X-linked sideroblastic anemia and ataxia is a rare condition characterized by a xr X-linked recessive ABCB7 https://ghr.nlm.nih.gov/gene/ABCB7 XLSA/A db key 2009-04 2017-12-29
affected families have been reported. blood disorder called sideroblastic anemia and movement problems known as GTR C1845028
ataxia. This condition occurs only in males. db key
html:p Sideroblastic anemia results when developing red blood cells called GeneReviews sider-anemia
erythroblasts do not make enough hemoglobin, which is the protein that carries db key
oxygen in the blood. People with X-linked sideroblastic anemia and ataxia have ICD-10-CM D64.0
mature red blood cells that are smaller than normal (microcytic) and appear pale db key
(hypochromic) because of the shortage of hemoglobin. This disorder also leads MeSH D000756
to an abnormal accumulation of iron in red blood cells. The iron-loaded db key
erythroblasts, which are present in bone marrow, are called ring sideroblasts. OMIM 301310
These abnormal cells give the condition its name. Unlike other forms of db key
sideroblastic anemia, X-linked sideroblastic anemia and ataxia does not cause a Orphanet 2802
potentially dangerous buildup of iron in the body. The anemia is typically mild db key
and usually does not cause any symptoms. SNOMED CT 62677000
html:p X-linked sideroblastic anemia and ataxia causes problems with balance and
coordination that appear early in life. The ataxia primarily affects the trunk,
making it difficult to sit, stand, and walk unassisted. In addition to ataxia,
people with this condition often have trouble coordinating movements that
involve judging distance or scale (dysmetria) and find it difficult to make
rapid, alternating movements (dysdiadochokinesis). Mild speech difficulties
(dysarthria), tremor, and abnormal eye movements have also been reported in some
affected individuals.
related-gene-list
X-linked spondyloepiphyseal dysplasia tarda https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda The prevalence of X-linked spondyloepiphyseal dysplasia tarda is estimated html:p X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone xr X-linked recessive TRAPPC2 https://ghr.nlm.nih.gov/gene/TRAPPC2 Dysplasia, Spondyloepiphyseal db key 2008-06 2017-12-29
性聯遲發型脊椎骨骼發育不全 to be 1 in 150,000 to 200,000 people worldwide. growth and occurs almost exclusively in males. The name of the condition Late-onset spondyloepiphyseal dysplasia GTR C0220776
indicates that it affects the bones of the spine (spondylo-) and the ends SED tarda db key
(epiphyses) of long bones in the arms and legs. "Tarda" indicates that signs Spondyloepiphyseal Dysplasia GeneReviews sedt
and symptoms of this condition are not present at birth, but appear later in X-linked SED db key
childhood, typically between ages 6 and 10. X-linked SEDT ICD-10-CM Q77.7
html:p Males with X-linked spondyloepiphyseal dysplasia tarda have skeletal db key
abnormalities and short stature. Affected boys grow steadily until late MeSH D010009
childhood, when their growth slows. Male adult height ranges from 4 feet 10 db key
inches to 5 feet 6 inches. Individuals with X-linked spondyloepiphyseal OMIM 313400
dysplasia tarda have a short trunk and neck, and their arms appear db key
disproportionately long. Impaired growth of the spinal bones (vertebrae) causes Orphanet 93284
the short stature seen in this disorder. The spinal abnormalities include db key
flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive SNOMED CT 51952004
thinning of the discs between vertebrae, and an abnormal curvature of the spine
(scoliosis or kyphosis). Other skeletal features of X-linked spondyloepiphyseal
dysplasia tarda include an abnormality of the hip joint that causes the upper
leg bones to turn inward (coxa vara); a broad, barrel-shaped chest; and
decreased mobility of the elbow and hip joints. Arthritis often develops in
early adulthood, typically affecting the hip joints and spine.
related-gene-list
X-linked thrombocytopenia https://ghr.nlm.nih.gov/condition/x-linked-thrombocytopenia The estimated incidence of X-linked thrombocytopenia is between 1 and 10 html:p X-linked thrombocytopenia is a bleeding disorder that primarily affects males. xr X-linked recessive WAS https://ghr.nlm.nih.gov/gene/WAS thrombocytopenia 1 db key 2013-02 2017-12-29
X連鎖血小板減少症 per million males worldwide; this condition is rarer among females. This condition is characterized by a blood cell abnormality called XLT GTR C1839163
thrombocytopenia, which is a shortage in the number of blood cell fragments db key
involved in clotting (platelets). Affected individuals often have abnormally GeneReviews was
small platelets as well, a condition called microthrombocytopenia. X-linked db key
thrombocytopenia can cause individuals to bruise easily or have episodes of ICD-10-CM D69.42
prolonged bleeding following minor trauma or even in the absence of injury db key
(spontaneous bleeding). Some people with this condition experience spontaneous MeSH D013921
bleeding in the brain (cerebral hemorrhage), which can cause brain damage that db key
can be life-threatening. OMIM 313900
html:p Some people with X-linked thrombocytopenia also have patches of red, irritated db key
skin (eczema) or an increased susceptibility to infections. In severe cases, Orphanet 852
additional features can develop, such as cancer or autoimmune disorders, which db key
occur when the immune system malfunctions and attacks the body's own tissues and SNOMED CT 37492005
organs. It is unclear, however, if people with these features have X-linked
thrombocytopenia or a more severe disorder with similar signs and symptoms
called Wiskott-Aldrich syndrome.
html:p Some people have a mild form of the disorder called intermittent
thrombocytopenia. These individuals have normal platelet production at times
with episodes of thrombocytopenia.
related-gene-list
Xeroderma pigmentosum https://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum Xeroderma pigmentosum is a rare disorder; it is estimated to affect about 1 html:p Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition ar autosomal recessive DDB2 https://ghr.nlm.nih.gov/gene/DDB2 DeSanctis-Cacchione syndrome db key 2010-05 2017-12-29
著色性乾皮病 in 1 million people in the United States and Europe. The condition is more characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. related-gene gene-symbol ghr-page XP GTR C0043346
common in Japan, North Africa, and the Middle East. This condition mostly affects the eyes and areas of skin exposed to the sun. ERCC2 https://ghr.nlm.nih.gov/gene/ERCC2 db key
Some affected individuals also have problems involving the nervous system. related-gene gene-symbol ghr-page GTR C0268135
html:p The signs of xeroderma pigmentosum usually appear in infancy or early childhood. ERCC3 https://ghr.nlm.nih.gov/gene/ERCC3 db key
Many affected children develop a severe sunburn after spending just a few related-gene gene-symbol ghr-page GTR C0268138
minutes in the sun. The sunburn causes redness and blistering that can last for ERCC4 https://ghr.nlm.nih.gov/gene/ERCC4 db key
weeks. Other affected children do not get sunburned with minimal sun exposure, related-gene gene-symbol ghr-page GTR C0268140
but instead tan normally. By age 2, almost all children with xeroderma ERCC5 https://ghr.nlm.nih.gov/gene/ERCC5 db key
pigmentosum develop freckling of the skin in sun-exposed areas (such as the related-gene gene-symbol ghr-page GTR C0268141
face, arms, and lips); this type of freckling rarely occurs in young children POLH https://ghr.nlm.nih.gov/gene/POLH db key
without the disorder. In affected individuals, exposure to sunlight often causes related-gene gene-symbol ghr-page GTR C1848410
dry skin (xeroderma) and changes in skin coloring (pigmentation). This XPA https://ghr.nlm.nih.gov/gene/XPA db key
combination of features gives the condition its name, xeroderma pigmentosum. related-gene gene-symbol ghr-page GTR C1848411
html:p People with xeroderma pigmentosum have a greatly increased risk of developing XPC https://ghr.nlm.nih.gov/gene/XPC db key
skin cancer. Without sun protection, about half of children with this condition GTR C1970808
develop their first skin cancer by age 10. Most people with xeroderma db key
pigmentosum develop multiple skin cancers during their lifetime. These cancers GTR C2752147
occur most often on the face, lips, and eyelids. Cancer can also develop on the db key
scalp, in the eyes, and on the tip of the tongue. Studies suggest that people GeneReviews xp
with xeroderma pigmentosum may also have an increased risk of other types of db key
cancer, including brain tumors. Additionally, affected individuals who smoke ICD-10-CM Q82.1
cigarettes have a significantly increased risk of lung cancer. db key
html:p The eyes of people with xeroderma pigmentosum may be painfully sensitive to UV MeSH D014983
rays from the sun. If the eyes are not protected from the sun, they may become db key
bloodshot and irritated, and the clear front covering of the eyes (the cornea) OMIM 278700
may become cloudy. In some people, the eyelashes fall out and the eyelids may be db key
thin and turn abnormally inward or outward. In addition to an increased risk of OMIM 278720
eye cancer, xeroderma pigmentosum is associated with noncancerous growths on db key
the eye. Many of these eye abnormalities can impair vision. OMIM 278730
html:p About 30 percent of people with xeroderma pigmentosum develop progressive db key
neurological abnormalities in addition to problems involving the skin and eyes. OMIM 278740
These abnormalities can include hearing loss, poor coordination, difficulty db key
walking, movement problems, loss of intellectual function, difficulty swallowing OMIM 278750
and talking, and seizures. When these neurological problems occur, they tend to db key
worsen with time. OMIM 278760
html:p Researchers have identified at least eight inherited forms of xeroderma db key
pigmentosum: complementation group A (XP-A) through complementation group G OMIM 278780
(XP-G) plus a variant type (XP-V). The types are distinguished by their genetic db key
cause. All of the types increase skin cancer risk, although some are more likely OMIM 610651
than others to be associated with neurological abnormalities. db key
Orphanet 910
db key
SNOMED CT 1073003
db key
SNOMED CT 25784009
db key
SNOMED CT 36454001
db key
SNOMED CT 414673004
db key
SNOMED CT 42530008
db key
SNOMED CT 44600005
db key
Y chromosome microdeletion
Y染色體片段缺失突變檢測
related-gene-list SNOMED CT 68637004
Y chromosome infertility https://ghr.nlm.nih.gov/condition/y-chromosome-infertility Y chromosome infertility occurs in approximately 1 in 2,000 to 1 in 3,000 html:p Y chromosome infertility is a condition that affects the production of sperm, n not inherited USP9Y https://ghr.nlm.nih.gov/gene/USP9Y spermatogenic failure, Y-linked db key 2009-01 2017-12-29
Y染色體不孕 males of all ethnic groups. This condition accounts for between 5 percent and 10 making it difficult or impossible for affected men to father children. An code memo related-chromosome name ghr-page Y chromosome-related azoospermia GTR C1839071
percent of cases of azoospermia or severe oligospermia. affected man's body may produce no sperm cells (azoospermia), a smaller than y Y-linked Y https://ghr.nlm.nih.gov/chromosome/Y db key
usual number of sperm cells (oligospermia), or sperm cells that are abnormally GTR C1839073
shaped or that do not move properly. db key
html:p Some men with Y chromosome infertility who have mild to moderate oligospermia GeneReviews yci
may eventually father a child naturally. Assisted reproductive technologies may db key
help other affected men; most men with Y chromosome infertility have some sperm MeSH D007248
cells in the testes that can be extracted for this purpose. The most severely db key
affected men do not have any mature sperm cells in the testes. This form of Y OMIM 400042
chromosome infertility is called Sertoli cell-only syndrome. db key
html:p Men with Y chromosome infertility usually do not have any other signs or OMIM 415000
symptoms. Occasionally they may have unusually small testes or undescended db key
testes (cryptorchidism). SNOMED CT 236791009
inheritance-pattern-list related-gene-list
Yao syndrome https://ghr.nlm.nih.gov/condition/yao-syndrome Yao syndrome has an estimated prevalence of 1 in 10,000 to 1 in 100,000 html:p html:i u pattern unknown NOD2 synonym db-key db key 2017-12 2017-12-29
Autoinflammation people worldwide. Studies suggest that it is among the most common systemic NOD2 synonym GTR C4310620
(affecting the whole body) autoinflammatory diseases in adults. For unknown synonym db-key db key
reasons, Yao syndrome appears to affect women more frequently than men. synonym MeSH D056660
db-key db key
OMIM 617321
html:p The episodes of fever and inflammation associated with Yao syndrome can last for
several days and occur weeks to months apart. During these episodes, most
affected individuals develop reddened, inflamed areas on the skin called
erythematous patches or plaques. This reddening occurs most commonly on the
face, chest, and back but can also affect the arms and legs. Episodes of joint
pain and inflammation similar to arthritis are common, particularly in the legs,
as is swelling of the ankles and feet. Inflammation also affects the
gastrointestinal system, causing attacks of abdominal pain, bloating, and
cramping with diarrhea in more than half of affected individuals. Dry eyes and
dry mouth (described as "sicca-like" symptoms, which refers to dryness) are
reported in about half of people with this disease. Other potential signs and
symptoms of Yao syndrome include mouth sores, chest pain, and enlargement of
various glands.
html:p Yao syndrome is usually diagnosed in adulthood. It is a long-lasting (chronic)
disease, and episodes can recur for many years.
inheritance-pattern-list related-gene-list
ZAP70-related severe combined immunodeficiency https://ghr.nlm.nih.gov/condition/zap70-related-severe-combined-immunodeficiency ZAP70-related SCID is a rare disorder. Only about 20 affected individuals html:p html:i ar autosomal recessive ghr-page selective T-cell defect db-key db key 2015-04 2017-12-29
have been identified. The prevalence of SCID from all genetic causes combined is They are prone to repeated and persistent infections that can be https://ghr.nlm.nih.gov/gene/ZAP70 ZAP70-related SCID GTR C1849236
approximately 1 in 50,000. very serious or life-threatening. zeta-associated protein 70 deficiency db-key db key
GeneReviews zap70-scid
db-key db key
If not treated in a way that restores immune function, children with SCID MeSH D016511
usually live only a year or two. db-key db key
OMIM 176947
db-key db key
Orphanet 911
db-key db key
html:p html:i SNOMED CT 190993005
ZAP70
related-gene-list
Zellweger spectrum disorder https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder Zellweger spectrum disorder is estimated to occur in 1 in 50,000 html:p Zellweger spectrum disorder is a group of conditions that have overlapping signs ar autosomal recessive PEX1 https://ghr.nlm.nih.gov/gene/PEX1 cerebrohepatorenal syndrome db key 2015-06 2017-12-29
趙葦格氏症 individuals. and symptoms and affect many parts of the body. This group of conditions related-gene gene-symbol ghr-page PBD-ZSD GTR C0043459
includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile PEX2 https://ghr.nlm.nih.gov/gene/PEX2 PBD, ZSS db key
Refsum disease. These conditions were once thought to be distinct disorders but related-gene gene-symbol ghr-page peroxisome biogenesis disorders, Zellweger syndrome spectrum GTR C0282525
are now considered to be part of the same condition spectrum. Zellweger PEX3 https://ghr.nlm.nih.gov/gene/PEX3 Zellweger spectrum db key
syndrome is the most severe form of the Zellweger spectrum disorder, NALD is related-gene gene-symbol ghr-page Zellweger syndrome spectrum GTR C0282527
intermediate in severity, and infantile Refsum disease is the least severe form. PEX5 https://ghr.nlm.nih.gov/gene/PEX5 ZSD db key
Because these three conditions are now considered one disorder, some related-gene gene-symbol ghr-page GTR C1832200
researchers prefer not to use the separate condition names but to instead refer PEX6 https://ghr.nlm.nih.gov/gene/PEX6 db key
to cases as severe, intermediate, or mild. related-gene gene-symbol ghr-page GeneReviews pbd
html:p Individuals with Zellweger syndrome, at the severe end of the spectrum, develop PEX10 https://ghr.nlm.nih.gov/gene/PEX10 db key
signs and symptoms of the condition during the newborn period. These infants related-gene gene-symbol ghr-page ICD-10-CM E71.510
experience weak muscle tone (hypotonia), feeding problems, hearing and vision PEX11B https://ghr.nlm.nih.gov/gene/PEX11B db key
loss, and seizures. These problems are caused by the breakdown of myelin, which related-gene gene-symbol ghr-page ICD-10-CM E71.511
is the covering that protects nerves and promotes the efficient transmission of PEX12 https://ghr.nlm.nih.gov/gene/PEX12 db key
nerve impulses. The part of the brain and spinal cord that contains myelin is related-gene gene-symbol ghr-page ICD-10-CM G60.1
called white matter. Destruction of myelin (demyelination) leads to loss of PEX13 https://ghr.nlm.nih.gov/gene/PEX13 db key
white matter (leukodystrophy). Children with Zellweger syndrome also develop related-gene gene-symbol ghr-page MeSH D015211
life-threatening problems in other organs and tissues, such as the liver, heart, PEX14 https://ghr.nlm.nih.gov/gene/PEX14 db key
and kidneys. They may have skeletal abnormalities, including a large space related-gene gene-symbol ghr-page OMIM 202370
between the bones of the skull (fontanelles) and characteristic bone spots known PEX16 https://ghr.nlm.nih.gov/gene/PEX16 db key
as chondrodysplasia punctata that can be seen on x-ray. Affected individuals related-gene gene-symbol ghr-page OMIM 214100
have distinctive facial features, including a flattened face, broad nasal PEX19 https://ghr.nlm.nih.gov/gene/PEX19 db key
bridge, and high forehead. Children with Zellweger syndrome typically do not related-gene gene-symbol ghr-page OMIM 214110
survive beyond the first year of life. PEX26 https://ghr.nlm.nih.gov/gene/PEX26 db key
html:p People with NALD or infantile Refsum disease, which are at the less-severe end OMIM 266510
of the spectrum, have more variable features than those with Zellweger syndrome db key
and usually do not develop signs and symptoms of the disease until late infancy OMIM 601539
or early childhood. They may have many of the features of Zellweger syndrome; db key
however, their condition typically progresses more slowly. Children with these OMIM 614859
less-severe conditions often have hypotonia, vision problems, hearing loss, db key
OMIM 614862
disability. Most people with NALD survive into childhood, and those with db key
infantile Refsum disease may reach adulthood. In rare cases, individuals at the OMIM 614866
mildest end of the condition spectrum have developmental delay in childhood and db key
hearing loss or vision problems beginning in adulthood and do not develop the OMIM 614870
other features of this disorder. db key
OMIM 614872
db key
OMIM 614876
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OMIM 614882
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OMIM 614883
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OMIM 614886
db key
OMIM 614887
db key
OMIM 614920
db key
Orphanet 44
db key
Orphanet 772
db key
Orphanet 912
db key
Orphanet 79189
db key
SNOMED CT 238061001
db key
SNOMED CT 238062008
db key
SNOMED CT 88469006

Syndromes related to hair loss/ baldness, not sparse hair
Name GHR-webpage Problems Genes
Androgenetic alopecia https://ghr.nlm.nih.gov/condition/androgenetic-alopecia hair loss a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic "M" shape. Hair also thins at the crown (near the top of the head), often progressing to partial or complete baldness.The pattern of hair loss in women differs from male-pattern baldness. In women, the hair becomes thinner all over the head, and the hairline does not recede. Androgenetic alopecia in women rarely leads to total baldness.Androgenetic alopecia in men has been associated with several other medical conditions including coronary heart disease and enlargement of the prostate. Additionally, prostate cancer, disorders of insulin resistance (such as diabetes and obesity), and high blood pressure (hypertension) have been related to androgenetic alopecia. In women, this form of hair loss is associated with an increased risk of polycystic ovary syndrome (PCOS). PCOS is characterized by a hormonal imbalance that can lead to irregular menstruation, acne, excess hair elsewhere on the body (hirsutism), and weight gain. Although researchers suspect that several genes play a role in androgenetic alopecia, variations in only one gene, AR, have been confirmed in scientific studies.
Atopic dermatitis https://ghr.nlm.nih.gov/condition/atopic-dermatitis hair loss Individuals with atopic dermatitis have an increased risk of developing other conditions related to inflammation, such as inflammatory bowel disease, rheumatoid arthritis, and hair loss caused by a malfunctioning immune reaction (alopecia areata). In very rare cases, atopic dermatitis is caused by inherited mutations in a single gene. One such gene is the CARD11 gene. Several common genetic variations may be involved, each contributing only a small amount to the risk of developing atopic dermatitis. The strongest of these associations is with the FLG gene, which is altered in 20 to 30 percent of people with atopic dermatitis compared with 8 to 10 percent of the general population without atopic dermatitis.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy https://ghr.nlm.nih.gov/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy hair loss Additional features that occur in people with APECED, many of which can lead to permanent organ and tissue damage if left untreated, include stomach irritation (gastritis), liver inflammation (hepatitis), lung irritation (pneumonitis), dry mouth and dry eyes (Sjogren-like syndrome), inflammation of the eyes (keratitis), kidney problems (nephritis), vitamin B12 deficiency, hair loss (alopecia), Mutations in the AIRE gene cause APECED. Th
Autosomal recessive hypotrichosis https://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis sparse hair, hair loss Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) In Japan, the condition is estimated to affect 1 in 10,000 individuals. Mutations in the LIPH, LPAR6, or DSG4 gene result in the production of abnormal proteins that cannot aid in the development of hair follicles. As a result, hair follicles are structurally abnormal and often underdeveloped. Irregular hair follicles alter the structure and growth of hair shafts, leading to woolly, fragile hair that is easily broken.
Biotinidase deficiency https://ghr.nlm.nih.gov/condition/biotinidase-deficiency hair loss Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. Profound biotinidase deficiency, the more severe form of the condition, can cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), Partial biotinidase deficiency is a milder form of this condition. Without treatment, affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress. Mutations in the BTD gene reduce or eliminate the activity of biotinidase.
Björnstad syndrome https://ghr.nlm.nih.gov/condition/bjornstad-syndrome hair grows slowly The hair is brittle and breaks easily, leading to short hair that grows slowly. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty. Björnstad syndrome is caused by mutations in the BCS1L gene.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy https://ghr.nlm.nih.gov/condition/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy hair loss Other characteristic features of CARASIL include premature hair loss (alopecia). The hair loss often begins during adolescence and is limited to the scalp. In people with CARASIL, mutations in the HTRA1 gene prevent the effective regulation of TGF-β signaling. Dysregulation of TGF-β signaling may also underlie the hair loss in people with CARASIL, although the relationship between abnormal TGF-β signaling and these features is less clear.
Clouston syndrome https://ghr.nlm.nih.gov/condition/clouston-syndrome hair loss In infants with Clouston syndrome, scalp hair is sparse, patchy, By puberty, the hair problems may worsen until all the hair on the scalp is lost (total alopecia). Clouston syndrome is caused by mutations in the GJB6 gene. This gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. GJB6 gene mutations that cause Clouston syndrome change single protein building blocks (amino acids) in the connexin 30 protein. Although the effects of these mutations are not fully understood, they lead to abnormalities in the growth, division, and maturation of cells in the hair follicles,
Dihydropyrimidine dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/dihydropyrimidine-dehydrogenase-deficiency hair loss People with dihydropyrimidine dehydrogenase deficiency, including those who otherwise exhibit no symptoms, are vulnerable to severe, potentially life-threatening toxic reactions to certain drugs called fluoropyrimidines that are used to treat cancer. Fluoropyrimidine toxicity may also lead to low numbers of white blood cells (neutropenia), which increases the risk of infections. It can also be associated with low numbers of platelets in the blood (thrombocytopenia), which impairs blood clotting and may lead to abnormal bleeding (hemorrhage). Redness, swelling, numbness, and peeling of the skin on the palms and soles (hand-foot syndrome); shortness of breath; and hair loss may also occur. Mutations in the DPYD gene result in a lack (deficiency) of functional dihydropyrimidine dehydrogenase. Because fluoropyrimidine drugs are also broken down by the dihydropyrimidine dehydrogenase enzyme, deficiency of this enzyme leads to the drug buildup that causes fluoropyrimidine toxicity.
Dyskeratosis congenita https://ghr.nlm.nih.gov/condition/dyskeratosis-congenita hair loss, grey hair People with dyskeratosis congenita may also develop pulmonary fibrosis, a condition that causes scar tissue (fibrosis) to build up in the lungs, decreasing the transport of oxygen into the bloodstream. Additional signs and symptoms that occur in some people with dyskeratosis congenita include eye abnormalities such as narrow tear ducts that may become blocked, preventing drainage of tears and leading to eyelid irritation; dental problems; hair loss or prematurely grey hair; In about half of people with dyskeratosis congenita, the disorder is caused by mutations in the TERT, TERC, DKC1, or TINF2 gene. These genes provide instructions for making proteins that help maintain structures known as telomeres, which are found at the ends of chromosomes. In a small number of individuals with dyskeratosis congenita, mutations in other genes involved with telome, CTC1, DKC1, NHP2, NOP10, RTEL1, TERC, TERT, TINF2, WRAP53,re maintenance have been identified.
Encephalocraniocutaneous lipomatosis https://ghr.nlm.nih.gov/condition/encephalocraniocutaneous-lipomatosis hair loss A rare condition that primarily affects the brain, eyes, and skin of the head and face. Hair loss (alopecia) also possible. The FGFR1 gene mutations that cause ECCL arise randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and others will not. This mixture of cells with and without a genetic mutation is known as mosaicism. In cells with an altered FGFR1 gene, the resulting FGFR1 protein is overactive, triggering abnormal signaling that affects cell growth and division. Researchers are studying how these changes in signaling lead to the growth of noncancerous tumors and the other features of ECCL.
Epidermolysis bullosa with pyloric atresia https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-with-pyloric-atresia hair loss Other complications of EB-PA can include fusion of the skin between the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that restrict movement, and hair loss (alopecia) EB-PA can be caused by mutations in the ITGA6, ITGB4, and PLEC genes.
Familial partial lipodystrophy https://ghr.nlm.nih.gov/condition/familial-partial-lipodystrophy excessive hair growth in female a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. After puberty, some affected females develop multiple cysts on the ovaries, an increased amount of body hair (hirsutism), Familial partial lipodystrophy can be caused by mutations in several genes, ADRA2A, AKT2, CIDEC, LIPE, LMNA, PLIN1, PPARG. Type 2 results from mutations in the LMNA gene. The other, less common forms of the disorder are caused by mutations in different genes.
Focal dermal hypoplasia https://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia sparse hair a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Hair on the scalp can be sparse and brittle or absent. Mutations in the PORCN gene appear to prevent the production of any functional PORCN protein. Researchers believe Wnt proteins cannot be released from the cell without the PORCN protein. When Wnt proteins are unable to leave the cell, they cannot participate in the chemical signaling pathways that are critical for normal development. The various signs and symptoms of focal dermal hypoplasia are likely due to abnormal Wnt signaling during early development.
Frontonasal dysplasia https://ghr.nlm.nih.gov/condition/frontonasal-dysplasia hair loss There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) ALX4 gene mutations cause type 2,
Griscelli syndrome https://ghr.nlm.nih.gov/condition/griscelli-syndrome hypopigmented hair Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy The three types of Griscelli syndrome are caused by mutations in different genes: Type 1 results from mutations in the MYO5A gene, type 2 is caused by mutations in the RAB27A gene, and type 3 results from mutations in the MLPH gene.
Hajdu-Cheney syndrome https://ghr.nlm.nih.gov/condition/hajdu-cheney-syndrome excess body hair A rare disorder that can affect many parts of the body, particularly the bones. Other features of Hajdu-Cheney syndrome found in some affected individuals include joint abnormalities, particularly an unusually large range of joint movement (hypermobility); dental problems; hearing loss; a deep, gravelly voice; excess body hair; Mutations in a specific area near the end of the NOTCH2 gene are associated with Hajdu-Cheney syndrome. These mutations lead to a version of the Notch2 receptor that cannot be broken down normally. As a result, the receptor continues to be active even after signaling should stop. Researchers are unsure how excessive Notch2 signaling is related to the varied features of Hajdu-Cheney syndrome.
Hashimoto thyroiditis https://ghr.nlm.nih.gov/condition/hashimoto-thyroiditis thin, dry hair Hashimoto thyroiditis is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. Hashimoto thyroiditis is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones. Other signs and symptoms resulting from an underactive thyroid can include excessive tiredness (fatigue), weight gain or difficulty losing weight, hair that is thin and dry, Hashimoto thyroiditis is thought to result from a combination of genetic (CTLA4, HLA-DRB1, TG) and environmental factors. Some of these factors have been identified, but many remain unknown.
Hennekam syndrome https://ghr.nlm.nih.gov/condition/hennekam-syndrome excessive body hair growth (hirsutism) Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. Abnormalities found in a few individuals with Hennekam syndrome include a moderate to sever growth (hirsutism), Mutations in the CCBE1 or FAT4 gene can cause Hennekam syndrome.
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis https://ghr.nlm.nih.gov/condition/hereditary-fibrosing-poikiloderma-with-tendon-contractures-myopathy-and-pulmonary-fibrosis sparse hair People with this disorder usually have sparse scalp hair, and their eyelashes and eyebrows can also be sparse or absent. FAM111B gene mutations that cause POIKTMP result in production of an abnormal FAM111B protein from one copy of the gene in each cell. Because most of the FAM111B mutations identified in people with POIKTMP result in changes in the peptidase domain, researchers think that the mutations alter the protein's function, and that these changes in FAM111B function underlie the varied signs and symptoms of POIKTMP.
Hermansky-Pudlak syndrome https://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome light hair colour Affected individuals typically have fair skin and white or light-colored hair. At least nine genes (AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6) are associated with Hermansky-Pudlak syndrome. These genes provide instructions for making proteins that are used to make four distinct protein complexes.
Holocarboxylase synthetase deficiency https://ghr.nlm.nih.gov/condition/holocarboxylase-synthetase-deficiency hair loss The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. Affected infants often have hair loss (alopecia). Immediate treatment and lifelong management with biotin supplements may prevent many of these complications. Mutations in the HLCS gene reduce the enzyme's ability to attach biotin to these enzymes, preventing them from processing nutrients properly and disrupting many cellular functions. These defects lead to the serious medical problems associated with holocarboxylase synthetase deficiency.
Hutchinson-Gilford progeria syndrome https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome hair loss Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Also causes hair loss (alopecia), Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.
Hypohidrotic ectodermal dysplasia https://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia Sparse hair, light-colored Affected individuals tend to have sparse scalp and body hair (hypotrichosis). The hair is often light-colored, brittle, and slow-growing. Mutations in the EDA, EDAR, or EDARADD gene prevent normal interactions between the ectoderm and the mesoderm and impair the normal development of hair, sweat glands, and teeth. The improper formation of these ectodermal structures leads to the characteristic features of hypohidrotic ectodermal dysplasia.
Ichthyosis with confetti https://ghr.nlm.nih.gov/condition/ichthyosis-with-confetti excess hair growth in some part of body In addition to red, scaly skin, people with ichthyosis with confetti typically have excess hair (hirsutism) on some parts of the body, particularly on the arms and legs. KRT10 gene mutations associated with ichthyosis with confetti alter the keratin 10 protein. The altered protein is abnormally transported to the nucleus of cells, where it cannot form networks of intermediate filaments. Loss of these networks disrupts the epidermis, contributing to the red, scaly skin. However, in some abnormal cells, the mutated gene corrects itself through a complex process by which genetic material is exchanged between chromosomes. As a result, normal keratin 10 protein is produced and remains in the cytoplasm. The cell becomes normal and, as it continues to grow and divide, forms small patches of normal skin that give ichthyosis with confetti its name.
Incontinentia pigmenti https://ghr.nlm.nih.gov/condition/incontinentia-pigmenti Hair loss Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males. Other signs and symptoms of incontinentia pigmenti can include hair loss (alopecia) affecting the scalp and other parts of the body About 80 percent of affected individuals have a mutation that deletes some genetic material from the IKBKG gene. This deletion probably leads to the production of an abnormally small, nonfunctional version of the IKBKG protein. Other people with incontinentia pigmenti have mutations that prevent the production of any IKBKG protein. Without this protein, nuclear factor-kappa-B is not regulated properly, and cells are more sensitive to signals that trigger them to self-destruct. Researchers believe that this abnormal cell death leads to the signs and symptoms of incontinentia pigmenti.
Junctional epidermolysis bullosa https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa Hair loss Junctional epidermolysis bullosa (JEB) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Other complications can include hair loss (alopecia). Because the signs and symptoms of Herlitz JEB are so severe, infants with this condition usually do not survive beyond the first year of life. Junctional epidermolysis bullosa results from mutations in the LAMA3, LAMB3, LAMC2, and COL17A1 genes. Mutations in each of these genes can cause Herlitz JEB or non-Herlitz JEB. LAMB3 gene mutations are the most common, causing about 70 percent of all cases of junctional epidermolysis bullosa.
Keratitis-ichthyosis-deafness syndrome https://ghr.nlm.nih.gov/condition/keratitis-ichthyosis-deafness-syndrome Partial hair loss Partial hair loss is a common feature of KID syndrome, and often affects the eyebrows and eyelashes. The GJB2 gene mutations that cause KID syndrome change single protein building blocks (amino acids) in connexin 26. The mutations are thought to result in channels that constantly leak ions, which impairs the health of the cells and increases cell death. Death of cells in the skin and the inner ear may underlie the ichthyosis and deafness that occur in KID syndrome. It is unclear how GJB2 gene mutations affect the eye.
Keratoderma with woolly hair https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair Coarse, dry, sparse scalp hair Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. Mutations in the JUP, DSP, DSC2, and KANK2 genes cause keratoderma with woolly hair types I through IV, respectively.
Klinefelter syndrome https://ghr.nlm.nih.gov/condition/klinefelter-syndrome Reduced facial and body hair A chromosomal condition that affects male physical and cognitive development. A shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, Most often, Klinefelter syndrome results from the presence of one extra copy of the X chromosome in each cell (47,XXY). Extra copies of genes on the X chromosome interfere with male sexual development, often preventing the testes from functioning normally and reducing the levels of testosterone. Some people with features of Klinefelter syndrome have more than one extra sex chromosome in each cell (for example, 48,XXXY or 49,XXXXY).
Lamellar ichthyosis https://ghr.nlm.nih.gov/condition/lamellar-ichthyosis Hair loss A condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. Affected individuals may also have hair loss (alopecia), Mutations in one of many genes (ABCA12, CYP4F22, LIPN, NIPAL4, TGM1) can cause lamellar ichthyosis.M utations in the TGM1 gene are responsible for approximately 90 percent of cases of lamellar ichthyosis.
Laron syndrome https://ghr.nlm.nih.gov/condition/laron-syndrome Thin hair A rare form of short stature that results from the body's inability to use growth hormone, a substance produced by the brain's pituitary gland that helps promote growth.Other feature s of untreated Laron syndrome include reduced musc thin and fragile Mutations in the GHR gene impair the receptor's ability to bind to growth hormone or to trigger signaling within cells. As a result, even when growth hormone is available, cells are unable to respond by producing IGF-I and stimulating growth and division.
Lateral meningocele syndrome https://ghr.nlm.nih.gov/condition/lateral-meningocele-syndrome Coarse hair Affected individuals may have coarse hair The NOTCH3 gene mutations that cause lateral meningocele syndrome occur at the end of the gene in a region known as exon 33. These gene mutations result in a NOTCH3 protein with an abnormally short (truncated) NICD. The shortened protein is missing the portion that normally causes the breakdown of the NICD after it has performed its function in the cell nucleus and is no longer needed. As a result, the presence of the NICD in the cell is prolonged, and the protein continues to affect the activity of other genes. However, the result of this prolonged NICD activity and its connection to the specific features of lateral meningocele syndrome are not well understood.
Lipoid proteinosis https://ghr.nlm.nih.gov/condition/lipoid-proteinosis Hair loss Lipoid proteinosis is a condition that results from the formation of numerous small clumps (deposits) of proteins and other molecules in various tissues throughout the body. These tiny clumps appear in the skin, upper respiratory tract, the moist tissues that line body openings such as the eyelids and the inside of the mouth (mucous membranes), and other areas. Some people with this condition have hair loss (alopecia) affecting their scalp, eyelashes, and eyebrows. ECM1 gene mutations that cause lipoid proteinosis result in the production of a nonfunctional protein or no protein at all. A lack of functional ECM1 protein reduces binding between ECM1 and other proteins, leading to an unstable extracellular matrix. Without adequate support from the extracellular matrix, cells in the skin and other tissues are weakened. However, the cause of the deposits in skin and other tissues is not clear. The unstable extracellular matrix may cause neighboring cells to overproduce proteins and other materials. It is possible that, as these excess substances accumulate in tissues, they create the deposits characteristic of lipoid proteinosis.
Mandibuloacral dysplasia https://ghr.nlm.nih.gov/condition/mandibuloacral-dysplasia Hair loss Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair Mutations in the LMNA gene cause MADA, and mutations in the ZMPSTE24 gene cause MADB. Within cells, these genes are involved in maintaining the structure of the nucleus and may play a role in many cellular processes.
Meier-Gorlin syndrome https://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome Sparse or absent of underarm hair Both males and females with this condition can have sparse or absent underarm (axillary) hair. Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1, ORC4, ORC6, CDT1, and CDC6, provides instructions for making one of a group of proteins known as the pre-replication complex. Mutations in any one of these genes impair formation of the pre-replication complex and disrupt replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome.
Menkes syndrome https://ghr.nlm.nih.gov/condition/menkes-syndrome Sparse coarse hair A disorder that affects copper levels in the body. It is characterized by sparse, kinky hair. Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, Mutations in the ATP7A gene result in poor distribution of copper to the body's cells. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels of copper. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system. The signs and symptoms of Menkes syndrome and occipital horn syndrome are caused by the reduced activity of these copper-containing enzymes.
Microcephaly-capillary malformation syndrome https://ghr.nlm.nih.gov/condition/microcephaly-capillary-malformation-syndrome Unusual pattern of hair growth An inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).Some affected children also have distinctive facial features and an unusual pattern of hair growth on the scalp. Mutations in the STAMBP gene reduce or eliminate the production of STAM binding protein. This shortage allows damaged or unneeded proteins to build up inside cells instead of being degraded or recycled, which may damage cells and cause them to self-destruct (undergo apoptosis). Researchers suspect that abnormal apoptosis of brain cells starting before birth may cause microcephaly and the underlying brain abnormalities found in people with microcephaly-capillary malformation syndrome. A lack of STAM binding protein also alters multiple signaling pathways that are necessary for normal development, which may underlie the capillary malformations and other signs and symptoms of the condition.
Monilethrix https://ghr.nlm.nih.gov/condition/monilethrix sparse hair A condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. People with monilethrix also have sparse hair growth (hypotrichosis) and short, brittle hair that breaks easily. Monilethrix is caused by mutations in one of several genes. Mutations in the KRT81 gene, the KRT83 gene, the KRT86 gene, or the DSG4 gene account for most cases of monilethrix. These genes provide instructions for making proteins that give structure and strength to strands of hair.
Müllerian aplasia and hyperandrogenism https://ghr.nlm.nih.gov/condition/mullerian-aplasia-and-hyperandrogenism excess face hair Women with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism). Mutations in the WNT4 gene change single protein building blocks (amino acids) in the WNT4 protein. Researchers suspect that the altered protein cannot be released from cells as it normally would be; the trapped protein is unable to perform its usual functions. Loss of regulation by WNT4 likely disrupts development of the female reproductive system and induces abnormal production of androgens, leading to the features of Müllerian aplasia and hyperandrogenism.
Multicentric osteolysis, nodulosis, and arthropathy https://ghr.nlm.nih.gov/condition/multicentric-osteolysis-nodulosis-and-arthropathy excess hair growth Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), The MMP2 gene mutations that cause MONA completely eliminate the activity of the matrix metallopeptidase 2 enzyme, preventing the normal cleavage of type IV collagen. It is unclear how a loss of enzyme activity leads to the specific features of MONA.
Multiple sulfatase deficiency https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency excess hair growth The neonatal type is the most severe form, with signs and symptoms appearing soon after birth. Affected individuals have dry, scaly skin (ichthyosis) and excess hair growth (hypertrichosis) Most SUMF1 gene mutations severely reduce the function of the FGE enzyme or lead to the production of an unstable enzyme that is quickly broken down. The activity of multiple sulfatases is impaired because the FGE enzyme modifies all known sulfatase enzymes. Sulfate-containing molecules that are not broken down build up in cells, often resulting in cell death. The death of cells in particular tissues, specifically the brain, skeleton, and skin, cause many of the signs and symptoms of multiple sulfatase deficiency.

syndroms correlates with stillborn/ miscarriage
Name GHR-webpage Problems Genes
Achondrogenesis https://ghr.nlm.nih.gov/condition/achondrogenesis Stillborn Mutations in the TRIP11, SLC26A2, and COL2A1 genes cause achondrogenesis type 1A, type 1B, and type 2, respectively.
Alpha thalassemia-Hb Bart syndrome/ alpha thalassemia major https://ghr.nlm.nih.gov/condition/alpha-thalassemia Stillborn deletions involving the HBA1 and HBA2 genes
Atelosteogenesis type 1 https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-1 Stillborn Mutations in the FLNB gene cause atelosteogenesis type 1.
Atelosteogenesis type 2 https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-2 Stillborn mutations in the SLC26A2
Boomerang dysplasia https://ghr.nlm.nih.gov/condition/boomerang-dysplasia Stillborn Mutations in the FLNB
Fibrochondrogenesis https://ghr.nlm.nih.gov/condition/fibrochondrogenesis Stillborn mutations in the COL11A1 or COL11A2
Mucopolysaccharidosis type VII https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii Stillborn Mutations in the GUSB
Renal tubular dysgenesis https://ghr.nlm.nih.gov/condition/renal-tubular-dysgenesis Stillborn Mutations in the ACE, AGT, AGTR1, or REN
Roberts syndrome-severe form https://ghr.nlm.nih.gov/condition/roberts-syndrome Stillborn Mutations in the ESCO2
Sialidosis type 2 https://ghr.nlm.nih.gov/condition/sialidosis Stillborn Mutations in the NEU1 gene
Tetra-amelia syndrome https://ghr.nlm.nih.gov/condition/tetra-amelia-syndrome Stillborn a mutation in the WNT3 gene
Thanatophoric dysplasia https://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia Stillborn Mutations in the FGFR3
Abdominal wall defect https://ghr.nlm.nih.gov/condition/abdominal-wall-defect Miscarriage No genetic mutations are known to cause an abdominal wall defect.
Anencephaly https://ghr.nlm.nih.gov/condition/anencephaly Miscarriage likely caused by the interaction of multiple genetic eg MTHFR and environmental factors. Some of these factors have been identified, but many remain unknown.
https://ghr.nlm.nih.gov/condition/antiphospholipid-syndrome Miscarriage The genetic cause of antiphospholipid syndrome is unknown. This condition is associated with the presence of three abnormal immune proteins (antibodies) in the blood: lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I
Celiac disease https://ghr.nlm.nih.gov/condition/celiac-disease Miscarriage The risk of developing celiac disease is increased by certain variants of the HLA-DQA1 and HLA-DQB1 genes.
Congenital afibrinogenemia https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia Miscarriage Congenital afibrinogenemia results from mutations in one of three genes, FGA, FGB, or FGG.
Factor V Leiden thrombophilia https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia Miscarriage A particular mutation in the F5 gene causes factor V Leiden thrombophilia.
Factor X deficiency https://ghr.nlm.nih.gov/condition/factor-x-deficiency Miscarriage mutations in the F10 gene, which provides instructions for making a protein called coagulation factor X.
Factor XIII deficiency https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency Miscarriage mutations in the F13A1 gene or, less commonly, the F13B gene.
Hereditary antithrombin deficiency https://ghr.nlm.nih.gov/condition/hereditary-antithrombin-deficiency Miscarriage mutations in the SERPINC1 gene.
Macrozoospermia https://ghr.nlm.nih.gov/condition/macrozoospermia Miscarriage Mutations in the AURKC
Prothrombin thrombophilia https://ghr.nlm.nih.gov/condition/prothrombin-thrombophilia Miscarriage a particular mutation in the F2 gene
Turner syndrome https://ghr.nlm.nih.gov/condition/turner-syndrome Miscarriage one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered. AND the loss of one copy of SHOX gene likely causes short stature and skeletal abnormalities in women with Turner syndrome
Hand-foot-genital syndrome https://ghr.nlm.nih.gov/condition/hand-foot-genital-syndrome stillbirth Mutations in the HOXA13 gene
Intrahepatic cholestasis of pregnancy https://ghr.nlm.nih.gov/condition/intrahepatic-cholestasis-of-pregnancy stillbirth Genetic changes in the ABCB11 or the ABCB4 gene. Most women with intrahepatic cholestasis of pregnancy do not have a genetic change in the ABCB11 or ABCB4 gene. Other genetic and environmental factors likely play a role in increasing susceptibility to this condition.
Preeclampsia https://ghr.nlm.nih.gov/condition/preeclampsia stillbirth The specific causes of preeclampsia are not well understood.
Phenylketonuria https://ghr.nlm.nih.gov/condition/phenylketonuria Pregnancy loss Mutations in the PAH gene

Syndroms related to strokes and heart attack
Name GHR-webpage Problems Genes
Adenosine deaminase 2 deficiency https://ghr.nlm.nih.gov/condition/adenosine-deaminase-2-deficiency Stroke A disorder characterized by abnormal inflammation of various tissues, particularly the blood vessels (vasculitis). Depending on the severity and location of the inflammation, the disorder can cause disability or be life-threatening. Features that have been described in people with ADA2 deficiency include recurrent strokes affecting structures deep in the brain that can start in the first few years of life. Mutations in the ADA2 gene severely reduce or eliminate the function of adenosine deaminase 2. Researchers do not fully understand how a loss of this enzyme's function leads to the features of ADA2 deficiency.
Aldosterone-producing adenoma https://ghr.nlm.nih.gov/condition/aldosterone-producing-adenoma Heart attack, stroke They have an increased risk of heart attack, stroke Caused by mutations in one of several genes (ATP1A1, ATP2B, CACNA1D, CTNNB1, KCNJ5). The most commonly mutated gene is KCNJ5, accounting for an estimated 40 percent of the tumors, followed by the CACNA1D and ATP1A1 genes, which are mutated in about 9 percent and 6 percent of aldosterone-producing adenomas, respectively.
ALG6-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation Stroke People with ALG6-CDG may have stroke-like episodes ALG6 gene mutations lead to the production of an abnormal enzyme with reduced or no activity. Without a properly functioning enzyme, glycosylation cannot proceed normally, and oligosaccharides are incomplete. As a result, glycosylation is reduced or absent. The wide variety of signs and symptoms in ALG6-CDG are likely due to impaired glycosylation of proteins and fats that are needed for normal function in many organs and tissues, including the brain, eyes, liver, and hormone-producing (endocrine) system.
Antiphospholipid syndrome https://ghr.nlm.nih.gov/condition/antiphospholipid-syndrome Stroke A disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. If a blood clot forms in the vessels in the brain, blood flow is impaired and can lead to stroke. The genetic cause of antiphospholipid syndrome is unknown. This condition is associated with the presence of three abnormal immune proteins (antibodies) in the blood: lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I.
Arterial tortuosity syndrome https://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome Heart attack, stroke Blockage of blood flow to vital organs such as the heart, or brain can lead to heart attacks and strokes SLC2A10 gene mutations that cause arterial tortuosity syndrome reduce or eliminate GLUT10 function. By mechanisms that are not well understood, a lack (deficiency) of functional GLUT10 protein leads to overactivity (upregulation) of TGF-β signaling. Excessive growth signaling results in elongation of the arteries, leading to tortuosity.
Autosomal recessive hyper-IgE syndrome https://ghr.nlm.nih.gov/condition/autosomal-recessive-hyper-ige-syndrome Stroke Blockage of blood flow in the brain or abnormal bleeding in the brain, both of which can lead to stroke, can also occur in AR-HIES. DOCK8 gene mutations result in the production of little or no functional DOCK8 protein. Shortage of this protein impairs normal immune cell development and function.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy https://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy Stroke An inherited condition that causes stroke and other impairments. Damaged blood vessels reduce blood flow and can cause areas of tissue death (infarcts) throughout the body. An infarct in the brain can lead to a stroke. In individuals with CADASIL, a stroke can occur at any time from childhood to late adulthood, but typically happens during mid-adulthood. People with CADASIL often have more than one stroke in their lifetime.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy https://ghr.nlm.nih.gov/condition/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy Stroke An inherited condition that causes stroke and other impairments. About half of affected individuals have a stroke or similar episode before age 40. Mutations in the HTRA1 gene prevent the effective regulation of TGF-β signaling.
Clopidogrel resistance https://ghr.nlm.nih.gov/condition/clopidogrel-resistance Heart attack, stroke Clopidogrel resistance is a condition in which the drug clopidogrel is less effective than normal in people who are treated with it. People with clopidogrel resistance who receive clopidogrel are at risk of serious, sometimes fatal, complications. These individuals may have another heart attack or stroke caused by abnormal blood clot formation The two most common CYP2C19 gene polymorphisms associated with clopidogrel resistance (known as CYP2C19*2 and CYP2C19*3) result in the production of a nonfunctional CYP2C19 enzyme that cannot convert clopidogrel to its active form. Without active clopidogrel to interfere, the P2RY12 receptor continues to promote platelet aggregation and blood clot formation, which can lead to heart attacks, strokes, and thromboses in individuals with a history of these conditions.
COL4A1-related brain small-vessel disease https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease Stroke Characterized by weakening of the blood vessels in the brain. Stroke is often the first symptom of this condition, typically occurring in mid-adulthood.In affected individuals, stroke is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke), although either type can occur. Individuals with this condition are at increased risk of having more than one stroke in their lifetime. The COL4A1 gene mutations that cause COL4A1-related brain small-vessel disease result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround. In people with COL4A1-related brain small-vessel disease, the vasculature in the brain weakens, which can lead to blood vessel breakage and stroke.
Critical congenital heart disease https://ghr.nlm.nih.gov/condition/critical-congenital-heart-disease Stroke Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death. Studies suggest that these genes (CFC1, FOXH1, GATA4, GATA6, GDF1, GJA1, HAND1, MED13L, NKX2-5, NKX2-6, NOTCH1, SMAD6, ZFPM2. Changes in single genes have been associated with CCHD) are involved in normal heart development before birth. Most of the identified mutations reduce the amount or function of the protein that is produced from a specific gene, which likely impairs the normal formation of structures in the heart. Studies have also suggested that having more or fewer copies of particular genes compared with other people, a phenomenon known as copy number variation, may play a role in CCHD. However, it is unclear whether genes affected by copy number variation are involved in heart development and how having missing or extra copies of those genes could lead to heart defects. Researchers believe that single-gene mutations and copy number variation account for a relatively small percentage of all CCHD.
Essential thrombocythemia https://ghr.nlm.nih.gov/condition/essential-thrombocythemia Stroke Abnormal blood clotting (thrombosis) is common in people with essential thrombocythemia and causes many signs and symptoms of this condition. Clots that block blood flow to the brain can cause strokes or temporary stroke-like episodes known as transient ischemic attacks. The JAK2 and CALR genes are the most commonly mutated genes in essential thrombocythemia. The MPL, THPO, and TET2 genes can also be altered in this condition.
Fabry disease https://ghr.nlm.nih.gov/condition/fabry-disease Heart attack, stroke An inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. GLA gene mutations that result in an absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease. Mutations that decrease but do not eliminate the enzyme's activity usually cause the milder, late-onset forms of Fabry disease that affect only the heart or kidneys.
Familial atrial fibrillation https://ghr.nlm.nih.gov/condition/familial-atrial-fibrillation Stroke An inherited abnormality of the heart's normal rhythm. Atrial fibrillation also increases the risk of stroke and sudden death. Familial atrial fibrillation often results from rare mutations in single genes. However, these cases represent only a small fraction of all individuals with atrial fibrillation. (ABCC9, GJA5, KCNA5, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYL4, NKX2-5, NPPA, NUP155, PRKAG2, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A)
Familial erythrocytosis https://ghr.nlm.nih.gov/condition/familial-erythrocytosis Heart attack, stroke An inherited condition characterized by an increased number of red blood cells (erythrocytes). The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. Mutations in the EPOR, VHL, EGLN1, or EPAS1 gene.
Familial hyperaldosteronism https://ghr.nlm.nih.gov/condition/familial-hyperaldosteronism Heart attack, stroke People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure. Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene. Mutations in the KCNJ5 gene likely result in the production of potassium channels that are less selective, allowing other ions (predominantly sodium) to pass as well. The abnormal ion flow results in the activation of biochemical processes (pathways) that lead to increased aldosterone production, causing the hypertension associated with familial hyperaldosteronism type III. The genetic cause of familial hyperaldosteronism type II is unknown.
Familial thoracic aortic aneurysm and dissection https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissection Heart attack, stroke Involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Depending on the genetic cause of familial TAAD in particular families, they may have an increased risk of developing blockages in smaller arteries, which can lead to heart attack and stroke. Mutations in any of several genes (ACTA2, FBN1, MYH11, MYLK, PRKG1, SMAD3, TGFBR1, TGFBRa) re associated with familial TAAD. Mutations in the ACTA2 gene have been identified in 14 to 20 percent of people with this disorder, and TGFBR2 gene mutations have been found in 2.5 percent of affected individuals. Mutations in several other genes account for smaller percentages of cases.
Generalized arterial calcification of infancy https://ghr.nlm.nih.gov/condition/generalized-arterial-calcification-of-infancy Heart attack, stroke As a result of the cardiovascular problems associated with GACI, individuals with this condition often do not survive past infancy, with death typically caused by a heart attack or stroke. Mutations in the ENPP1 gene are thought to result in reduced availability of pyrophosphate, leading to excessive calcification in the body and causing the signs and symptoms of GACI. Mutations in the ABCC6 gene lead to an absent or nonfunctional MRP6 protein. It is unclear how a lack of properly functioning MRP6 protein leads to GACI.
Grange syndrome https://ghr.nlm.nih.gov/condition/grange-syndrome Stroke heart attack? Characterized by narrowing (stenosis) or blockage (occlusion) of arteries that supply blood to various organs and tissues, including the brain, and heart. Blockage of the arteries that carry blood to the brain (cerebral arteries) can cause a stroke. Mutations in the YY1AP1 gene likely disrupt the function of the complex, which leads to reduced proliferation and differentiation of smooth muscle cells. However, it is unclear how these changes lead to narrowing and blockage of arteries.
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome https://ghr.nlm.nih.gov/condition/hereditary-angiopathy-with-nephropathy-aneurysms-and-muscle-cramps-syndrome Stroke Compared to other COL4A1-related disorders, the brain is only mildly affected in HANAC syndrome. People with this condition may have a bulge in one or multiple blood vessels in the brain (intracranial aneurysms). These aneurysms have the potential to burst, causing bleeding within the brain (hemorrhagic stroke). The COL4A1 gene mutations that cause HANAC syndrome result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround. In people with HANAC syndrome, the vasculature and other tissues within the kidneys, brain, muscles, eyes, and throughout the body weaken.
Hereditary cerebral amyloid angiopathy https://ghr.nlm.nih.gov/condition/hereditary-cerebral-amyloid-angiopathy Stroke A condition that can cause a progressive loss of intellectual function (dementia), stroke. The Dutch type of hereditary cerebral amyloid angiopathy is the most common form. Stroke is frequently the first sign of the Dutch type and is fatal in about one third of people who have this condition. Survivors often develop dementia and have recurrent strokes. About half of individuals with the Dutch type who have one or more strokes will have recurrent seizures (epilepsy).People with the Flemish and Italian types of hereditary cerebral amyloid angiopathy are prone to recurrent strokes and dementia. The first sign of the Icelandic type of hereditary cerebral amyloid angiopathy is typically a stroke followed by dementia. Strokes associated with the Icelandic type usually occur earlier than the other types, with individuals typically experiencing their first stroke in their twenties or thirties. Mutations in the APP gene are the most common cause of hereditary cerebral amyloid angiopathy. APP gene mutations cause the Dutch, Italian, Arctic, Iowa, Flemish, and Piedmont types of this condition. Mutations in the CST3 gene cause the Icelandic type. Familial British and Danish dementia are caused by mutations in the ITM2B gene.
Hutchinson-Gilford progeria syndrome https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome Heart attack, stroke People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances of having a heart attack or stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals. Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.
Liddle syndrome https://ghr.nlm.nih.gov/condition/liddle-syndrome Heart attack, stroke Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal. Mutations in the SCNN1B or SCNN1G gene change the structure of the respective ENaC subunit. The changes alter a region of the subunit that is involved in signaling for its breakdown (degradation) when it is no longer needed. As a result of the mutations, the subunit proteins are not degraded, and more ENaC channels remain at the cell surface. The increase in channels at the cell surface abnormally increases the reabsorption of sodium (followed by water), which leads to hypertension. Reabsorption of sodium into the blood is linked with removal of potassium from the blood, so excess sodium reabsorption leads to hypokalemia.
Lysosomal acid lipase deficiency https://ghr.nlm.nih.gov/condition/lysosomal-acid-lipase-deficiency Heart attack, stroke Some people with this later-onset form of lysosomal acid lipase deficiency develop an accumulation of fatty deposits on the artery walls (atherosclerosis). Although these deposits are common in the general population, they usually begin at an earlier age in people with lysosomal acid lipase deficiency. The deposits narrow the arteries, increasing the chance of heart attack or stroke. Mutations in the LIPA gene lead to a shortage (deficiency) of functional lysosomal acid lipase.
Microcephalic osteodysplastic primordial dwarfism type II https://ghr.nlm.nih.gov/condition/microcephalic-osteodysplastic-primordial-dwarfism-type-ii Stroke Some affected individuals have Moyamoya disease, in which arteries at the base of the brain are narrowed, leading to restricted blood flow. These vascular abnormalities are often treatable, though they increase the risk of stroke and reduce the life expectancy of affected individuals. PCNT gene mutations lead to the production of a nonfunctional pericentrin protein that cannot anchor other proteins to the centrosome. As a result, centrosomes cannot properly assemble microtubules, leading to disruption of the cell cycle and cell division. Impaired cell division causes a reduction in cell production, while disruption of the cell cycle can lead to cell death. This overall reduction in the number of cells leads to short bones, microcephaly, and the other signs and symptoms of MOPDII.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes Stroke-like episodes Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, MELAS can result from mutations in one of several genes, including MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV. These genes are found in the DNA of cellular structures called mitochondria, Mutations in a particular transfer RNA gene, MT-TL1, cause more than 80 percent of all cases of MELAS. These mutations impair the ability of mitochondria to make proteins, use oxygen, and produce energy. Researchers have not determined how changes in mtDNA lead to the specific signs and symptoms of MELAS.
Moyamoya disease https://ghr.nlm.nih.gov/condition/moyamoya-disease Stroke-like episodes, Stroke A disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new networks of small, fragile blood vessels form. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: "moyamoya" is an expression meaning "something hazy like a puff of smoke" in Japanese. A lack of blood supply to the brain leads to several symptoms of the disorder, including temporary stroke-like episodes (transient ischemic attacks), strokes Changes in the RNF213 gene involved in moyamoya disease replace single protein building blocks (amino acids) in the RNF213 protein. The effect of these changes on the function of the RNF213 protein is unknown,
Phosphoglycerate kinase deficiency https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency Stroke A genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells.Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke. Mutations in the PGK1 gene reduce the activity of phosphoglycerate kinase, which disrupts energy production and leads to cell damage or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in others.
Polycythemia vera https://ghr.nlm.nih.gov/condition/polycythemia-vera Heart attack, stroke Characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cell fragments called platelets. These extra cells and platelets cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain. Mutations in the JAK2 and TET2 genes are associated with polycythemia vera. JAK2 gene mutations result in the production of a JAK2 protein that is constantly turned on (constitutively activated), which increases production of blood cells and prolongs their survival. With so many extra cells in the bloodstream, abnormal blood clots are more likely to form. Thicker blood also flows more slowly throughout the body, which prevents organs from receiving enough oxygen. Many of the signs and symptoms of polycythemia vera are related to a shortage of oxygen in body tissues. The function of the TET2 gene is unknown. Although mutations in the TET2 gene have been found in approximately 16 percent of people with polycythemia vera, it is unclear what role these mutations play in the development of the condition.
Preeclampsia https://ghr.nlm.nih.gov/condition/preeclampsia Heart attack, stroke Preeclampsia is a complication of pregnancy in which affected women develop high blood pressure (hypertension); they can also have abnormally high levels of protein in their urine (proteinuria). This condition usually occurs in the last few months of pregnancy and often requires early delivery of the infant.In severe cases, however, preeclampsia can damage the mother's organs, such as the heart, liver, and kidneys, and can lead to life-threatening complications. Extremely high blood pressure in the mother can cause bleeding in the brain (hemorrhagic stroke). Women who have had preeclampsia have approximately twice the lifetime risk of heart disease and stroke than do women in the general population. The specific causes of preeclampsia are not well understood.
Prekallikrein deficiency https://ghr.nlm.nih.gov/condition/prekallikrein-deficiency Heart attack, stroke A few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, The KLKB1 gene mutations that cause prekallikrein deficiency reduce or eliminate functional plasma kallikrein, which likely impairs the intrinsic coagulation pathway. Researchers suggest that this lack (deficiency) of functional plasma kallikrein protein does not generally cause any symptoms because another process called the extrinsic coagulation pathway (also known as the tissue factor pathway) can compensate for the impaired intrinsic coagulation pathway.
Sick sinus syndrome https://ghr.nlm.nih.gov/condition/sick-sinus-syndrome Heart failure, stroke Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope). Sick sinus syndrome occurs most commonly in older adults, although it can be diagnosed in people of any age. The condition increases the risk of several life-threatening problems involving the heart and blood vessels. These include a heart rhythm abnormality called heart failure, cardiac arrest, and stroke. Genetic changes are an uncommon cause of sick sinus syndrome. Mutations in two genes, SCN5A and HCN4, have been found to cause the condition in a small number of families. A particular variation in another gene, MYH6, appears to increase the risk of developing sick sinus syndrome.
Sitosterolemia https://ghr.nlm.nih.gov/condition/sitosterolemia Heart attack, stroke In people with sitosterolemia, accumulation of fatty deposits in arteries (atherosclerosis) can occur as early as childhood. These deposits narrow the arteries and can eventually block blood flow, increasing the chance of a heart attack, stroke, or sudden death. Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 gene.
Sturge-Weber syndrome https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome Stroke-like episodes, Stroke The decrease in blood flow caused by leptomeningeal angiomas can cause stroke-like episodes in people with Sturge-Weber syndrome. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), vision abnormalities, seizures, and migraine headaches. In affected individuals, these episodes usually begin by age 2. The GNAQ gene mutation that causes Sturge-Weber syndrome results in the production of a protein with impaired function. As a result, the altered Gαq protein cannot play its part in regulating signaling pathways, resulting in abnormally increased signaling. The enhanced signaling likely disrupts the regulation of blood vessel development, causing abnormal and excessive formation of vessels before birth in people with Sturge-Weber syndrome.
Systemic lupus erythematosus https://ghr.nlm.nih.gov/condition/systemic-lupus-erythematosus Stroke Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke Normal variations (polymorphisms) in many genes (BANK1, C4A, C4B, C4B_2, CR2, CRP, CTLA4, DNASE1, DNASE1L3, FCGR2B, IRF5, ITGAM, LTK, NCF2, PDCD1, PTPN22, RASGRP1, RIPK1, STAT4, TLR5, TNFAIP3, TNFSF4, TREX) can affect the risk of developing SLE, and in most cases multiple genetic factors are thought to be involved. In rare cases, SLE is caused by mutations in single genes. Most of the genes associated with SLE are involved in immune system function, and variations in these genes likely affect proper targeting and control of the immune response. Sex hormones and a variety of environmental factors including viral infections, diet, stress, chemical exposures, and sunlight are also thought to play a role in triggering this complex disorder.
Transthyretin amyloidosis https://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis Stroke A slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. A buildup of protein in this tissue can cause stroke TTR gene mutations are thought to alter the structure of transthyretin, impairing its ability to bind to other transthyretin proteins and altering its normal function.
Type 1 diabetes https://ghr.nlm.nih.gov/condition/type-1-diabetes Heart attack, stroke A disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function. Type 1 diabetes is generally considered to be an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. For unknown reasons, in people with type 1 diabetes the immune system damages the insulin-producing beta cells in the pancreas. Damage to these cells impairs insulin production and leads to the signs and symptoms of type 1 diabetes.The risk of developing type 1 diabetes is increased by certain variants of the HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria. Also other identified (CCR5, CTLA4, FOXP3, HLA-DQA1, HLA-DQB1, HLA-DRB1, HNF1A, IL2RA, IL6, INS, ITPR3, OAS1, PTPN22, SUMO)
Type 2 diabetes https://ghr.nlm.nih.gov/condition/type-2-diabetes Heart disease, stroke Type 2 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, the body stops using and making insulin properly. If blood sugar levels are not controlled through medication or diet, type 2 diabetes can cause long-lasting (chronic) health problems including heart disease and stroke Studies have identified at least 150 DNA variations that are associated with the risk of developing type 2 diabetes. Most of these changes are common and are present both in people with diabetes and in those without.
Warfarin resistance https://ghr.nlm.nih.gov/condition/warfarin-resistance Heart attack, stroke Warfarin sensitivity is a condition in which individuals have a low tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming. Warfarin is often prescribed to prevent blood clots in people with heart valve disease who have replacement heart valves, people with an irregular heart beat (atrial fibrillation), or those with a history of heart attack, stroke, or a prior blood clot in the deep veins of the arms or legs (deep vein thrombosis). Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. Certain common changes (polymorphisms) in the VKORC1 gene account for 20 percent of the variation in warfarin metabolism due to genetic factors. Polymorphisms in other genes( ABCB1, UGT1A1), some of which have not been identified, have a smaller effect on warfarin metabolism.
Warfarin sensitivity https://ghr.nlm.nih.gov/condition/warfarin-sensitivity Heart attack, stroke A condition in which individuals have a low tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming. Warfarin is often prescribed to prevent blood clots in people with heart valve disease who have replacement heart valves, people with an irregular heart beat (atrial fibrillation), or those with a history of heart attack, stroke, Certain common changes (polymorphisms) in the CYP2C9 and VKORC1 genes account for 30 percent of the variation in warfarin metabolism due to genetic factors. Polymorphisms in other genes, some of (CYP2C9, CYP4F2, F9, GGCX, VKORC1) (which hav not been identified, have a smaller effect on warfarin metabolism.

Syndroms related to sudden death syncope heart failure cardiac arrest coma
Name GHR-webpage Problems Genes
3-hydroxy-3-methylglutaryl-CoA lyase deficiency https://ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency#genes Coma and death An uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. The signs and symptoms of HMG-CoA lyase deficiency usually appear within the first year of life. The condition causes episodes of vomiting, diarrhea, dehydration, extreme tiredness (lethargy), and weak muscle tone (hypotonia). During an episode, blood sugar levels can become dangerously low (hypoglycemia), and a buildup of harmful compounds can cause the blood to become too acidic (metabolic acidosis). If untreated, the disorder can lead to breathing problems, convulsions, coma, and death. A mutation in the HMGCL gene reduces or eliminates the activity of HMG-CoA lyase, the body is unable to process leucine or make ketones properly. When leucine is not processed normally, a buildup of chemical byproducts called organic acids can result in metabolic acidosis. A shortage of ketones often leads to hypoglycemia. Metabolic acidosis and hypoglycemia can damage cells, particularly in the brain, resulting in serious illness in children with HMG-CoA lyase deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency Sudden death Individuals with 3-hydroxyacyl-CoA dehydrogenase deficiency are also at risk for complications such as dden eath.This condition may explain some cases of sudden infant death syndrome (SIDS), which is defined as unexplained death in babies younger than 1 year. Mutations in the HADH gene Metabolic disease
3-methylcrotonyl-CoA carboxylase deficiency https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency Coma 3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine.If untreated, this disorder can lead to delayed development, seizures, and coma. Mutations in the MCCC1 or MCCC2 gene reduce or eliminate the activity of 3-MCC, preventing the body from processing leucine properly. As a result, toxic byproducts of leucine processing build up to harmful levels, which can damage the brain. This damage underlies the signs and symptoms of 3-MCC deficiency.
Acute necrotizing encephalopathy type 1 https://ghr.nlm.nih.gov/condition/acute-necrotizing-encephalopathy-type-1 Coma A rare type of brain disease (encephalopathy) that occurs following a viral infection such as the flu.Typically appears in infancy or early childhood, although some people do not develop the condition until adolescence or adulthood. People with this condition usually show typical symptoms of an infection, such as fever, cough, congestion, vomiting, and diarrhea, for a few days. Following these flu-like symptoms, affected individuals develop neurological problems, such as seizures, hallucinations, difficulty coordinating movements (ataxia), or abnormal muscle tone. Eventually, most affected individuals go into a coma, which usually lasts for a number of weeks.Approximately one-third of individuals with acute necrotizing encephalopathy type 1 do not survive their illness and subsequent neurological decline. Of those who do survive, about half have permanent brain damage due to tissue necrosis, resulting in impairments in walking, speech, and other basic functions. Over time, many of these skills may be regained, but the loss of brain tissue is permanent. Other individuals who survive their illness appear to recover completely. Mutations in the RANBP2 gene have been found to increase the risk of developing acute necrotizing encephalopathy type 1.
Andersen-Tawil syndrome https://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome Syncope and sudden death A disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Uncommonly, the irregular heartbeats can cause fainting (syncope), and even more rarely, sudden death. Mutations in the KCNJ2 gene cause about 60 percent of all cases of Andersen-Tawil syndrome. When the disorder is caused by mutations in this gene, it is classified as type 1 (ATS1).In the 40 percent of cases not caused by KCNJ2 gene mutations, the cause of Andersen-Tawil syndrome is usually unknown. These cases are classified as type 2 (ATS2). Studies suggest that variations in at least one other potassium channel gene may underlie the disorder in some of these affected individuals.
Ankyrin-B syndrome https://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome Syncope, cardiac arrest, and Sudden death In people with ankyrin-B syndrome, arrhythmia (heart problems related to disruption of the heart's normal rhythm) can lead to fainting (syncope) or cardiac arrest and sudden death. mutations in the ANK2 gene Heart disease
Argininosuccinic aciduria https://ghr.nlm.nih.gov/condition/argininosuccinic-aciduria Coma Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Mutations in the ASL gene cause argininosuccinic aciduria.
Aromatic l-amino acid decarboxylase deficiency https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency Syncope and cardiac arrest An inherited disorder that affects the way signals are passed between certain cells in the nervous system. Resulting signs and symptoms can include fainting (syncope), and cardiac arrest. Mutations in the DDC gene result in reduced activity of the AADC enzyme. Without enough of this enzyme, nerve cells produce less dopamine and serotonin. Dopamine and serotonin are necessary for normal nervous system function, and changes in the levels of these neurotransmitters contribute to the developmental delay, intellectual disability, abnormal movements, and autonomic dysfunction seen in people with AADC deficiency.
Arrhythmogenic right ventricular cardiomyopathy https://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy Sudden death, syncope, and heart failure This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise.When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure. ARVC can result from mutations in at least 13 genes (DSC2, DSG2, DSP, JUP, PKP2, RYR2, TGFB3, TMEM43). Many of these genes are known as desmosomal genes because they provide instructions for making components of cell structures called desmosomes. Mutations in a desmosomal gene called PKP2 appear to be most common. In people without an identified mutation, the cause of the disorder is unknown. Researchers are looking for additional genetic factors that play a role in causing ARVC. Heart disease
Beta-ketothiolase deficiency https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency Coma Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. The signs and symptoms of beta-ketothiolase deficiency typically appear between the ages of 6 months and 24 months. Affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. Mutations in the ACAT1 gene reduce or eliminate the activity of the ACAT1 enzyme. A shortage of this enzyme prevents the body from processing proteins and fats properly. As a result, related compounds can build up to toxic levels in the blood. These substances cause the blood to become too acidic (ketoacidosis), which can damage the body's tissues and organs, particularly in the nervous system.
Biotin-thiamine-responsive basal ganglia disease https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease Coma Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Without early and lifelong vitamin treatment, people with biotin-thiamine-responsive basal ganglia disease experience a variety of neurological problems that gradually get worse.The signs and symptoms of biotin-thiamine-responsive basal ganglia disease usually begin between the ages of 3 and 10, but the disorder can appear at any age. Severe cases may result in coma and become life-threatening. Mutations in the SLC19A3 gene likely result in a protein with impaired ability to transport thiamine into cells, resulting in decreased absorption of the vitamin and leading to neurological dysfunction. In this disorder, abnormalities affect several parts of the brain. Using medical imaging, generalized swelling as well as specific areas of damage (lesions) in the brain can often be seen, including in the basal ganglia. The relationship between these specific brain abnormalities and the abnormal thiamine transporter is unknown.
Brugada syndrome https://ghr.nlm.nih.gov/condition/brugada-syndrome Sudden death, syncope If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep. Signs and symptoms related to arrhythmias, including sudden death, can occur from early infancy to late adulthood. Sudden death typically occurs around age 40. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of death in babies younger than 1 year. SIDS is characterized by sudden and unexplained death, usually during sleep. Caused by mutations in one of several genes (CACNA1C, CACNA2D, CACNB2, GPD1, HCN4, KCND, KCNE, KCNE5, KCNJ, RANGR, SCN1, SCN2T, SCN3B, SCN5A, SLMAP, TRPM, TXNL4. The most commonly mutated gene in this condition is SCN5A, which is altered in approximately 30 percent of affected individuals. Heart disease
Carbamoyl phosphate synthetase I deficiency https://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency Coma In the first few days of life, infants with carbamoyl phosphate synthetase I deficiency typically exhibit the effects of hyperammonemia, which may include coma. Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. The CPS1 gene provides instructions for making the enzyme carbamoyl phosphate synthetase I, In this condition, the carbamoyl phosphate synthetase I enzyme is at low levels (deficient) or absent, and the urea cycle cannot proceed normally. As a result, nitrogen accumulates in the bloodstream in the form of toxic ammonia instead of being converted to less toxic urea and excreted.
Carbonic anhydrase VA deficiency https://ghr.nlm.nih.gov/condition/carbonic-anhydrase-va-deficiency Coma Characterized by episodes during which the balance of certain substances in the body is disrupted (known as metabolic crisis) and brain function is abnormal (known as acute encephalopathy). These potentially life-threatening episodes can cause coma. Mutations in the CA5A gene result in absent or impaired carbonic anhydrase VA enzyme function, leading to reduced bicarbonate production. Insufficient bicarbonate results in impaired control of acid-base balance and reduces the activity of the four affected mitochondrial enzymes, resulting in the various biochemical abnormalities associated with carbonic anhydrase VA deficiency. These imbalances cause acute encephalopathy and the other signs and symptoms associated with this disorder. Studies suggest that a related enzyme produced from the CA5B gene may increasingly compensate for the lack of carbonic anhydrase VA as affected individuals mature, which may result in a reduced risk of metabolic crisis and acute encephalopathy after childhood.
Carney complex https://ghr.nlm.nih.gov/condition/carney-complex Sudden death Individuals with Carney complex are at increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of the body. Cardiac myxomas may be found in any of the four chambers of the heart and can develop in more than one chamber. These tumors can block the flow of blood through the heart, causing serious complications or sudden death. Mutations in the PRKAR1A gene cause most cases of Carney complex. Heart disease caused by myxomas in the heart (cardiac myxoma)
Carnitine-acylcarnitine translocase deficiency https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency Sudden death Many infants with CACT deficiency do not survive the newborn period. Some affected individuals have a less severe form of the condition and do not develop signs and symptoms until early childhood. These individuals are at risk for liver failure, nervous system damage, coma, and sudden death. Mutations in the SLC25A20 gene cause CACT deficiency Metabolic disease
Carnitine palmitoyltransferase I deficiency https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency Sudden death Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Individuals with CPT I deficiency are at risk for nervous system damage, liver failure, seizures, coma, and sudden death. Signs and symptoms of CPT I deficiency often appear during early childhood. Affected individuals usually have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Mutations in the CPT1A gene Metabolic disease
Carnitine palmitoyltransferase II deficiency https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency Sudden death Infants with the lethal neonatal form of CPT II deficiency usually live for a few days to a few months. Individuals with the severe infantile hepatocardiomuscular form of CPT II deficiency are at risk for liver failure, nervous system damage, coma, and sudden death. Mutations in the CPT2 gene Metabolic disease
Catecholaminergic polymorphic ventricular tachycardia https://ghr.nlm.nih.gov/condition/catecholaminergic-polymorphic-ventricular-tachycardia Sudden death, syncope If CPVT is not recognized and treated, an episode of ventricular tachycardia may cause the heart to stop beating (cardiac arrest), leading to sudden death. Researchers suspect that CPVT may be a significant cause of sudden death in children and young adults without recognized heart abnormalities. CPVT can result from mutations in two genes, RYR2 and CASQ2. Cardiac arrest
Chronic atrial and intestinal dysrhythmia https://ghr.nlm.nih.gov/condition/chronic-atrial-and-intestinal-dysrhythmia Syncope Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), It is unclear why SGO1 gene mutations specifically affect the heart and intestines in CAID. Researchers suggest that the activity (expression) of the SGO1 gene in certain embryonic tissues or a particular function of the SGO1 protein in the SA node and in cells that help control peristalsis may account for the features of the disorder.
Citrullinemia https://ghr.nlm.nih.gov/condition/citrullinemia Coma Type II citrullinemia chiefly affects the nervous system, causing coma. Mutations in the SLC25A13 gene are responsible for adult-onset type II citrullinemia, NICCD, and FTTDCD. This gene provides instructions for making a protein called citrin. Within cells, citrin helps transport molecules used in the production and breakdown of simple sugars, the production of proteins, and the urea cycle. Molecules transported by citrin are also involved in making nucleotides, which are the building blocks of DNA and its chemical cousin, RNA. Mutations in the SLC25A13 gene typically prevent cells from making any functional citrin, which inhibits the urea cycle and disrupts the production of proteins and nucleotides. The resulting buildup of ammonia and other toxic substances leads to the signs and symptoms of adult-onset type II citrullinemia. A lack of citrin also leads to the features of NICCD and FTTDCD, although ammonia does not build up in the bloodstream of individuals with these conditions.
Cold-induced sweating syndrome https://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome Sudden death Characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. In infancy, the features of this condition are often known as Crisponi syndrome. Researchers originally thought that cold-induced sweating syndrome and Crisponi syndrome were separate disorders, but it is now widely believed that they represent the same condition at different times during life. By six months of age, infants with Crisponi syndrome develop unexplained high fevers that increase the risk of seizures and sudden death. About 90 percent of cases of cold-induced sweating syndrome and Crisponi syndrome result from mutations in the CRLF1 gene. These cases are designated as CISS1. The remaining 10 percent of cases are caused by mutations in the CLCF1 gene and are designated as CISS2. Body temp regulation
Combined malonic and methylmalonic aciduria https://ghr.nlm.nih.gov/condition/combined-malonic-and-methylmalonic-aciduria The signs and symptoms of CMAMMA can begin in childhood. In some children, the buildup of acids causes the blood to become too acidic (ketoacidosis), which can damage the body's tissues and organs. Other signs and symptoms may include coma. The effects of ACSF3 gene mutations are unknown. Researchers suspect that the mutations lead to altered enzymes that have little or no function. Because the enzyme cannot convert malonic and methylmalonic acids, they build up in the body. Damage to organs and tissues caused by accumulation of these acids may be responsible for the signs and symptoms of CMAMMA, although the mechanisms are unclear.
Congenital central hypoventilation syndrome https://ghr.nlm.nih.gov/condition/congenital-central-hypoventilation-syndrome SIDS Researchers believe that some cases of sudden infant death syndrome (SIDS) or sudden unexplained death in children may be caused by undiagnosed CCHS. Mutations are believed to interfere with the PHOX2B protein's role in promoting neuron formation and differentiation, especially in the autonomic nervous system, resulting in the problems regulating breathing and other body functions that occur in CCHS.
Congenital generalized lipodystrophy https://ghr.nlm.nih.gov/condition/congenital-generalized-lipodystrophy Sudden death Some affected individuals develop a form of heart disease called hypertrophic cardiomyopathy, which can lead to heart failure and an abnormal heart rhythm (arrhythmia) that can cause sudden death. Researchers have described four types of congenital generalized lipodystrophy, which are distinguished by their genetic cause. Type 4 is associated with muscle weakness, delayed development, joint abnormalities, a narrowing of the lower part of the stomach (pyloric stenosis), and severe arrhythmia that can lead to sudden death. Mutations in the AGPAT2, BSCL2, CAV1, and CAVIN1 genes cause congenital generalized lipodystrophy types 1 through 4, respectively. Some affected individuals develop a form of heart disease called hypertrophic cardiomyopathy, which can lead to heart failure and an abnormal heart rhythm (arrhythmia) that can cause sudden death. Type 4 is associated with muscle weakness, delayed development, joint abnormalities, a narrowing of the lower part of the stomach (pyloric stenosis), and severe arrhythmia that can lead to sudden death.
Congenital hyperinsulinism https://ghr.nlm.nih.gov/condition/congenital-hyperinsulinism Coma A condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. Peopleed episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seiz ma. Mutations in at least nine genes (ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, KCNJ11, SLC16A1, UCP )have been found to cause congenital hyperinsulinism. Mutations in the ABCC8 gene are the most common known cause of the disorder. They account for this condition in approximately 40 percent of affected individuals. Less frequently, mutations in the KCNJ11 gene have been found in people with congenital hyperinsulinism. Mutations in each of the other genes associated with this condition account for only a small percentage of cases.
Corticosterone methyloxidase deficiency https://ghr.nlm.nih.gov/condition/corticosterone-methyloxidase-deficiency Coma A disorder characterized by excessive amounts of sodium released in the urine (salt wasting), along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. Severe cases of corticosterone methyloxidase deficiency can result in seizures and coma and can be life-threatening. The CYP11B2 gene mutations that cause corticosterone methyloxidase deficiency lead to insufficient production of aldosterone, which impairs the kidneys' ability to reabsorb salt (sodium chloride or NaCl) into the blood and release potassium in the urine. As a result, excessive amounts of salt in the form of charged atoms (ions) of sodium (Na+) and chlorine (Cl-) leave the body in the urine, while not enough potassium is released. The resulting imbalance of ions in the body underlies the signs and symptoms of corticosterone methyloxidase deficiency.
Critical congenital heart disease https://ghr.nlm.nih.gov/condition/critical-congenital-heart-disease Coma and death A group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment. Studies suggest that these genes (CFC1, FOXH1, GATA4, GATA6, GDF1, GJA1, HAND1, MED13L, NKX2-5, NKX2-6, NOTCH1, SMAD6, ZFPM2. Changes in single genes have been associated with CCHD) are involved in normal heart development before birth. Most of the identified mutations reduce the amount or function of the protein that is produced from a specific gene, which likely impairs the normal formation of structures in the heart. Studies have also suggested that having more or fewer copies of particular genes compared with other people, a phenomenon known as copy number variation, may play a role in CCHD. However, it is unclear whether genes affected by copy number variation are involved in heart development and how having missing or extra copies of those genes could lead to heart defects. Researchers believe that single-gene mutations and copy number variation account for a relatively small percentage of all CCHD.
Cyclic vomiting syndrome https://ghr.nlm.nih.gov/condition/cyclic-vomiting-syndrome Syncope A disorder that causes recurrent episodes of nausea, vomiting, and tiredness (lethargy). This condition is diagnosed most often in young children, but it can affect people of any age. Many affected people experience other symptoms during and between episodes, including fainting spells (syncope). The causes of cyclic vomiting syndrome have yet to be determined, researchers have proposed several factors that may contribute to the disorder. Some cases of cyclic vomiting syndrome, particularly those that begin in childhood, may be related to changes in mitochondrial DNA.
Dementia with Lewy bodies https://ghr.nlm.nih.gov/condition/dementia-with-lewy-bodies Syncope A nervous system disorder characterized by a decline in intellectual function (dementia), a group of movement problems known as parkinsonism, visual hallucinations, sudden changes (fluctuations) in behavior and intellectual ability, and acting out dreams while asleep (REM sleep behavior disorder). This condition typically affects older adults, most often developing between ages 50 and 85. The life expectancy of individuals with dementia with Lewy bodies varies; people typically survive about 5 to 7 years after they are diagnosed. Individuals with dementia with Lewy bodies may also experience a sharp drop in blood pressure upon fainting episodes (syncope), Mutations in the SNCA or SNCB gene cause dementia with Lewy bodies. GBA gene mutations increase the risk of developing the condition, but are not a direct cause.
Dilated cardiomyopathy with ataxia syndrome https://ghr.nlm.nih.gov/condition/dilated-cardiomyopathy-with-ataxia-syndrome Syncope, cardiac arrest, and Sudden death The irregular heartbeats (arrhythmia) can lead to fainting (syncope) or cardiac arrest and sudden death. Rarely, heart problems improve over time; however, in most cases of DCMA syndrome, affected individuals do not survive past childhood due to heart failure. A small percentage of people with DCMA syndrome have no heart problems at all. Mutations in the DNAJC19 gene Heart disease
Early-onset myopathy with fatal cardiomyopathy https://ghr.nlm.nih.gov/condition/early-onset-myopathy-with-fatal-cardiomyopathy Sudden death The heart disease worsens quickly, and it often causes heart failure and sudden death in adolescence or early adulthood.Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. EOMFC is caused by mutations in the TTN gene. Muscle disease. irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. The heart abnormalities associated with EOMFC usually become apparent in childhood, after the skeletal muscle abnormalities. The heart disease worsens quickly, and it often causes heart failure and sudden death in adolescence or early adulthood.
Emery-Dreifuss muscular dystrophy https://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy Syncope, heart failure, and sudden death Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Almost all people with Emery-Dreifuss muscular dystrophy develop heart problems by adulthood. In many cases, these heart problems are abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects) and abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead to a sensation of fluttering or pounding in the chest (palpitations), an unusually slow heartbeat (bradycardia), fainting (syncope), heart failure, and an increased risk of sudden death.If untreated, these abnormalities can lead to a sensation of fluttering or pounding in the chest (palpitations), an unusually slow heartbeat (bradycardia), fainting (syncope), heart failure, and an increased risk of sudden death. Mutations in several genes, including EMD, FHL1, and LMNA, can cause Emery-Dreifuss muscular dystrophy. Mutations in the EMD gene or, less commonly, in the FHL1 gene cause the X-linked type of the condition. Mutations in the LMNA gene cause both the autosomal dominant and autosomal recessive types of the condition. If untreated, these abnormalities can lead to a sensation of fluttering or pounding in the chest (palpitations), an unusually slow heartbeat (bradycardia), fainting (syncope), heart failure, and an increased risk of sudden death.
Familial atrial fibrillation https://ghr.nlm.nih.gov/condition/familial-atrial-fibrillation Syncope, sudden death An inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper chambers (the atria), which cause a fast and irregular heartbeat. If untreated, this abnormal heart rhythm (arrhythmia) can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Familial atrial fibrillation often results from rare mutations in single genes. However, these cases represent only a small fraction of all individuals with atrial fibrillation. (ABCC9, GJA5, KCNA5, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYL4, NKX2-5, NPPA, NUP155, PRKAG2, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A)
Familial dilated cardiomyopathy https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy Syncope Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure. It usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope) Mutations in more than 30 genes (ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, EYA4, GATAD1, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL)h ave been found to cause familial dilated cardiomyopathy. These genes provide instructions for making proteins that are found in cardiac muscle cells called cardiomyocytes.
Familial hemiplegic migraine https://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine Coma and death A form of migraine headache that runs in families. Unusually severe migraine episodes have been reported in some people with familial hemiplegic migraine. These episodes have included fever, seizures, prolonged weakness, coma, and, rarely, death. Researchers believe that mutations in the CACNA1A, ATP1A2, and SCN1A genes can upset the balance of ions in neurons, which disrupts the normal release and uptake of certain neurotransmitters in the brain. Although the mechanism is unknown, researchers speculate that mutations in the PRRT2 gene, which reduce the amount of PRRT2 protein, also disrupt normal control of neurotransmitter release. The resulting changes in signaling between neurons lead people with familial hemiplegic migraine to develop these severe headaches.
Familial hemophagocytic lymphohistiocytosis https://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis Coma A disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). The brain may also be affected in familial hemophagocytic lymphohistiocytosis. As a result, affected individuals may experience, seizures, and coma. Familial hemophagocytic lymphohistiocytosis may be caused by mutations in any of several genes (PRF1, STX11, STXBP2, UNC13D). These genes provide instructions for making proteins that help destroy or deactivate lymphocytes that are no longer needed. Approximately 40 to 60 percent of cases of familial hemophagocytic lymphohistiocytosis are caused by mutations in the PRF1 or UNC13D genes. Smaller numbers of cases are caused by mutations in other known genes. In some affected individuals, the genetic cause of the disorder is unknown.
Glycogen storage disease type 0 https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-0 Syncope, Sudden death The signs and symptoms of muscle GSD 0 typically begin in early childhood. Affected individuals often experience muscle pain and weakness or episodes of fainting (syncope) following moderate physical activity, such as walking up stairs. In all affected individuals, muscle GSD 0 impairs the heart's ability to effectively pump blood and increases the risk of cardiac arrest and sudden death, particularly after physical activity. Sudden death from cardiac arrest can occur in childhood or adolescence in people with muscle GSD 0. Mutations in the GYS1 gene cause muscle GSD 0, and mutations in the GYS2 gene cause liver GSD 0. In all affected individuals, muscle GSD 0 impairs the heart's ability to effectively pump blood and increases the risk of cardiac arrest and sudden death, particularly after physical activity. Sudden death from cardiac arrest can occur in childhood or adolescence in people with muscle GSD 0.
Gyrate atrophy of the choroid and retina https://ghr.nlm.nih.gov/condition/gyrate-atrophy-of-the-choroid-and-retina Coma An inherited disorder characterized by progressive vision loss. Occasionally, newborns with gyrate atrophy develop excess ammonia in the blood (hyperammonemia), which may lead to poor feeding, vomiting, seizures, or coma. OAT gene mutations that cause gyrate atrophy result in a reduced amount of functional ornithine aminotransferase enzyme. A shortage of this enzyme impedes the conversion of ornithine into P5C. As a result, excess ornithine accumulates in the blood (hyperornithinemia), and less P5C than normal is produced. It is not clear how these changes result in the specific signs and symptoms of gyrate atrophy.
Hajdu-Cheney syndrome https://ghr.nlm.nih.gov/condition/hajdu-cheney-syndrome Sudden death The most serious complications of Hajdu-Cheney syndrome, which occur in about half of all affected individuals, are abnormalities known as platybasia and basilar invagination. Platybasia is a flattening of the base of the skull caused by thinning and softening of the skull bones. Basilar invagination occurs when the softened bones allow part of the spine to protrude abnormally through the opening at the bottom of the skull, pushing into the lower parts of the brain. These abnormalities can lead to severe neurological problems, including abnormal breathing, and sudden death. Mutations in a specific area near the end of the NOTCH2 gene are associated with Hajdu-Cheney syndrome. The most serious complications of Hajdu-Cheney syndrome, which occur in about half of all affected individuals, are abnormalities known as platybasia and basilar invagination. P
Hereditary fructose intolerance https://ghr.nlm.nih.gov/condition/hereditary-fructose-intolerance Coma and death Continued exposure to fructose may result in seizures, coma, and ultimately death from liver and kidney failure ALDOB gene mutations reduce the function of the enzyme, impairing its ability to metabolize fructose. A lack of functional aldolase B results in an accumulation of fructose-1-phosphate in liver cells. This buildup is toxic, resulting in the death of liver cells over time. Additionally, the breakdown products of fructose-1-phosphase are needed in the body to produce energy and to maintain blood sugar levels. The combination of decreased cellular energy, low blood sugar, and liver cell death leads to the features of hereditary fructose intolerance.
Hereditary hyperekplexia https://ghr.nlm.nih.gov/condition/hereditary-hyperekplexia SIDS Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping. At least five genes (ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5) are associated with hereditary hyperekplexia. Most of these genes provide instructions for producing proteins that are found in nerve cells (neurons). Approximately 80 percent of cases of hereditary hyperekplexia are caused by mutations in the GLRA1 gene. The GLRA1 gene provides instructions for making one part, the alpha (α)1 subunit, of the glycine receptor protein. GLRA1 gene mutations lead to the production of a receptor that cannot properly respond to glycine. As a result, glycine is less able to transmit signals in the spinal cord and brainstem. Mutations in the other four genes account for a small percentage of all cases of hereditary hyperekplexia.
Holocarboxylase synthetase deficiency https://ghr.nlm.nih.gov/condition/holocarboxylase-synthetase-deficiency Coma An inherited disorder in which the body is unable to use the vitamin biotin effectively. The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. If left untreated, the disorder can lead to coma. These medical problems may be life-threatening in some cases. Mutations in the HLCS gene reduce the enzyme's ability to attach biotin to these enzymes, preventing them from processing nutrients properly and disrupting many cellular functions. These defects lead to the serious medical problems associated with holocarboxylase synthetase deficiency.
Isovaleric acidemia https://ghr.nlm.nih.gov/condition/isovaleric-acidemia Coma and death a rare disorder in which the body is unable to process certain proteins properly. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems.
Jervell and Lange-Nielsen syndrome https://ghr.nlm.nih.gov/condition/jervell-and-lange-nielsen-syndrome Syncope, Coma, Sudden death Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death. These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. About 90 percent of cases of Jervell and Lange-Nielsen syndrome are caused by mutations in the KCNQ1 gene; KCNE1 mutations are responsible for the remaining cases. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death.
Keratoderma with woolly hair https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair Sudden death Cardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death. Mutations in the JUP, DSP, DSC2, and KANK2 genes cause keratoderma with woolly hair types I through IV, respectively. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death.
Left ventricular noncompaction https://ghr.nlm.nih.gov/condition/left-ventricular-noncompaction Sudden cardiac death, syncope Some individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include irregular heart rhythm (arrhythmia), fainting (syncope), Mutations in several genes (ACTC1, DTNA, HCN4, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, SCN5A, TAZ, TNNT2, TPM )have been found to cause left ventricular noncompaction. Mutations in the MYH7 and MYBPC3 genes have been estimated to cause up to 30 percent of cases; mutations in other genes are each responsible for a small percentage of cases. However, the cause of the condition is often unknown.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency#genes Sudden death Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death. Mutations in the HADHA gene Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death.
Lysinuric protein intolerance https://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance Coma a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. A lack of certain amino acids can cause elevated levels of ammonia in the blood. If ammonia levels are too high for too long, they can cause coma Mutations in the SLC7A7 gene cause lysinuric protein intolerance.
Maple syrup urine disease https://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease Coma and death An inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. Mutations in any of these three genes (BCKDHA, BCKDHB, DBT) reduce or eliminate the function of the protein complex, preventing the normal breakdown of leucine, isoleucine, and valine. As a result, these amino acids and their byproducts build up in the body. Because high levels of these substances are toxic to the brain and other organs, their accumulation leads to the serious health problems associated with maple syrup urine disease. Researchers are studying other genes, PPM1K, related to the same protein complex that may also be associated with maple syrup urine disease.
Medium-chain acyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency Coma and death A condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood. In rare cases, symptoms of this disorder are not recognized early in life, and the condition is not diagnosed until adulthood. People with MCAD deficiency are at risk of serious complications such as coma, and sudden death. Mutations in the ACADM gene lead to a shortage (deficiency) of the MCAD enzyme within cells. Without sufficient amounts of this enzyme, medium-chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to the characteristic signs and symptoms of this disorder such as lethargy and hypoglycemia.
Megalencephalic leukoencephalopathy with subcortical cysts https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts Coma A progressive condition that affects brain development and function. Individuals with this condition typically have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. Minor head trauma can further impair movements and may lead to coma. Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts type 1; this type accounts for 75 percent of all cases. It is unknown how a lack of functional MLC1 or GlialCAM protein at cell junctions in the brain impairs brain development and function, causing the signs and symptoms of megalencephalic leukoencephalopathy with subcortical cysts. Mutations in the HEPACAM gene cause megalencephalic leukoencephalopathy with subcortical cysts types 2A and 2B; together, these types account for 20 percent of all cases. Approximately 5 percent of people with megalencephalic leukoencephalopathy with subcortical cysts do not have identified mutations in the MLC1 or HEPACAM gene.
Methylmalonic acidemia https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia Coma and death An inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. Without treatment, this disorder can lead to coma and death in some cases. Mutations in the MUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. The long term effects of methylmalonic acidemia depend on which gene is mutated and the severity of the mutation. About 60 percent of methylmalonic acidemia cases are caused by mutations in the MUT gene. It is likely that mutations in other, unidentified genes also cause methylmalonic acidemia.
Mitochondrial trifunctional protein deficiency https://ghr.nlm.nih.gov/condition/mitochondrial-trifunctional-protein-deficiency Sudden death AND coma Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death. Mutations in the HADHA and HADHB genes cause mitochondrial trifunctional protein deficiency. Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death.
N-acetylglutamate synthase deficiency https://ghr.nlm.nih.gov/condition/n-acetylglutamate-synthase-deficiency Coma An inherited disorder that causes ammonia to accumulate in the blood. May become evident in the first few days of life. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. In some affected individuals, signs and symptoms of N-acetylglutamate synthase deficiency are less severe, and do not appear until later in life. Some people with this form of the disorder cannot tolerate high-protein foods such as meat. They may experience sudden episodes of ammonia toxicity, resulting in coma, in response to illness or other stress. Mutations in the NAGS gene cause N-acetylglutamate synthase deficiency.
Neurohypophyseal diabetes insipidus https://ghr.nlm.nih.gov/condition/neurohypophyseal-diabetes-insipidus Coma People with neurohypophyseal diabetes insipidus can quickly become dehydrated if they do not drink enough water. Dehydration can lead to constipation and dry skin. If the disorder is not treated, more serious complications of dehydration can occur. These include coma. Mutations in the AVP gene result in progressive damage to the brain cells where ADH is produced. These cells ultimately die, causing a shortage of ADH. Without this hormone, the kidneys do not reabsorb water as they should, and the body makes excessive amounts of urine.
Ornithine transcarbamylase deficiency https://ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency Coma An inherited disorder that causes ammonia to accumulate in the blood.An infant with the neonatal-onset form of ornithine transcarbamylase deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperature. Infants with this disorder may be described as "floppy" and can experience seizures or coma. Mutations in the OTC gene cause ornithine transcarbamylase deficiency
Ornithine translocase deficiency https://ghr.nlm.nih.gov/condition/ornithine-translocase-deficiency Coma Ornithine translocase deficiency varies widely in its severity and age of onset. An infant with ornithine translocase deficiency may be lacking in energy (lethargic) or refuse to eat, or have poorly controlled breathing or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Mutations in the SLC25A15 gene result in a mitochondrial ornithine transporter that is unstable or the wrong shape, and which cannot bring ornithine to the mitochondrial matrix. This failure of ornithine transport causes an interruption of the urea cycle and the accumulation of ammonia,
Preeclampsia https://ghr.nlm.nih.gov/condition/preeclampsia Coma A complication of pregnancy in which affected women develop high blood pressure (hypertension); they can also have abnormally high levels of protein in their urine (proteinuria). This condition usually occurs in the last few months of pregnancy and often requires early delivery of the infant.In many cases, symptoms of preeclampsia go away within a few days after the baby is born. In severe cases, however, preeclampsia can damage the mother's organs, such as the heart, liver, and kidneys, and can lead to life-threatening complications. Extremely high blood pressure in the mother can cause bleeding in the brain (hemorrhagic stroke). The effects of high blood pressure on the brain (hypertensive encephalopathy) may also result in seizures. If seizures occur, the condition is considered to have worsened to eclampsia, which can result in coma. The specific causes of preeclampsia are not well understood. In pregnancy, blood volume normally increases to support the fetus, and the mother's body must adjust to handle this extra fluid. In some women the body does not react normally to the fluid changes of pregnancy, leading to the signs and symptoms of preeclampsia.
Primary carnitine deficiency https://ghr.nlm.nih.gov/condition/primary-carnitine-deficiency Sudden death AND coma Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.All individuals with this disorder are at risk for heart failure, liver problems, coma, and sudden death. Mutations in the SLC22A5 gene cause primary carnitine deficiency. All individuals with this disorder are at risk for heart failure, liver problems, coma, and sudden death.
Progressive familial heart block https://ghr.nlm.nih.gov/condition/progressive-familial-heart-block Syncope, sudden cardiac arrest, and death Complete heart block can cause fainting (syncope), or sudden cardiac arrest and death. Mutations in the SCN5A and TRPM4 genes cause most cases of progressive familial heart block types IA and IB, respectively. The SCN5A and TRPM4 gene mutations that cause progressive familial heart block alter the normal function of the channels. As a result of these channel alterations, cardiac cells have difficulty producing and transmitting the electrical signals that are necessary to coordinate normal heartbeats, leading to heart block. Death of these impaired cardiac cells over time can lead to fibrosis, worsening the heart block.Mutations in other genes (GJA5, SCN1B), some of which are unknown, account for the remaining cases of progressive familial heart block.
Propionic acidemia https://ghr.nlm.nih.gov/condition/propionic-acidemia Coma and death An inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death Mutations in the PCCA or PCCB gene disrupt the function of the enzyme and prevent the normal breakdown of these molecules. As a result, a substance called propionyl-CoA and other potentially harmful compounds can build up to toxic levels in the body. This buildup damages the brain and nervous system, causing the serious health problems associated with propionic acidemia.
Pyruvate carboxylase deficiency https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency Coma and death Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. This form of the condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver failure. They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. Infants with this form of the condition usually survive for less than 3 months after birth. Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity. The missing or altered enzyme cannot carry out its essential role in generating glucose, which impairs the body's ability to make energy in mitochondria. Additionally, a loss of pyruvate carboxylase allows compounds such as lactic acid and ammonia to build up and damage organs and tissues. Researchers suggest that the loss of pyruvate carboxylase function in the nervous system, particularly the role of the enzyme in myelin formation and neurotransmitter production, also contributes to the neurologic features of pyruvate carboxylase deficiency.
Romano-Ward syndrome https://ghr.nlm.nih.gov/condition/romano-ward-syndrome Syncope, Cardiac arrest, Sudden death A condition that causes a disruption of the heart's normal rhythm (arrhythmia). The arrhythmia associated with Romano-Ward syndrome can lead to fainting (syncope) or cardiac arrest and sudden death. However, some people with Romano-Ward syndrome never experience any health problems associated with the condition. Mutations in the KCNQ1, KCNH2, and SCN5A genes are the most common causes of Romano-Ward syndrome. Mutations in other genes (AKAP, CALM, CALM, CAV3, KCNJ, SCN4n, and SNTA1 involved in ion transport can also cause Romano-Ward syndrome; each of these additional genes is associated with a very small percentage of cases. The arrhythmia associated with Romano-Ward syndrome can lead to fainting (syncope) or cardiac arrest and sudden death. However, some people with Romano-Ward syndrome never experience any health problems associated with the condition.
Short/branched chain acyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency Coma A small percentage of affected individuals develop signs and symptoms of the condition, which can begin soon after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy (lethargy), vomiting, and irritability. These symptoms sometimes progress to serious health problems such as difficulty breathing, seizures, and coma Mutations in the ACADSB gene reduce or eliminate the activity of this enzyme. With a shortage (deficiency) of SBCAD activity, the body is unable to break down isoleucine properly. Researchers speculate that some features of this disorder, such as lethargy and muscle weakness, occur because isoleucine is not converted to energy. In addition, impairment of SBCAD may allow the buildup of toxic compounds, which can lead to serious health problems.
Short QT syndrome https://ghr.nlm.nih.gov/condition/short-qt-syndrome Syncope, Cardiac arrest, sudden death, SIDS Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). If untreated, the arrhythmia associated with short QT syndrome can lead to a variety of signs and symptoms, from dizziness and fainting (syncope) to cardiac arrest and sudden death. These signs and symptoms can occur any time from early infancy to old age. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. However, some people with short QT syndrome never experience any health problems associated with the condition. Mutations in the KCNH2, KCNJ2, and KCNQ1 genes can cause short QT syndrome. Some affected individuals do not have an identified mutation in the KCNH2, KCNJ2, or KCNQ1 gene. Changes in other genes that have not been identified may cause the disorder in these cases. If untreated, the arrhythmia associated with short QT syndrome can lead to a variety of signs and symptoms, from dizziness and fainting (syncope) to cardiac arrest and sudden death. These signs and symptoms can occur any time from early infancy to old age.
Sick sinus syndrome https://ghr.nlm.nih.gov/condition/sick-sinus-syndrome Syncope, heart failure, cardiac arrest Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope). Sick sinus syndrome occurs most commonly in older adults, although it can be diagnosed in people of any age. The condition increases the risk of several life-threatening problems involving the heart and blood vessels. These include a heart rhythm abnormality called heart failure, cardiac arrest, and stroke. Genetic changes are an uncommon cause of sick sinus syndrome. Mutations in two genes, SCN5A and HCN4, have been found to cause the condition in a small number of families. A particular variation in another gene, MYH6, appears to increase the risk of developing sick sinus syndrome.
Sitosterolemia https://ghr.nlm.nih.gov/condition/sitosterolemia Sudden death Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that accumulate in this disorder, with a blood level 30 to 100 times greater than normal. In people with sitosterolemia, accumulation of fatty deposits in arteries (atherosclerosis) can occur as early as childhood. These deposits narrow the arteries and can eventually block blood flow, increasing the chance of a heart attack, stroke, or sudden death. Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 gene. In people with sitosterolemia, accumulation of fatty deposits in arteries (atherosclerosis) can occur as early as childhood. These deposits narrow the arteries and can eventually block blood flow, increasing the chance of a heart attack, stroke, or sudden death.
Sporadic hemiplegic migraine https://ghr.nlm.nih.gov/condition/sporadic-hemiplegic-migraine Coma Some people with sporadic hemiplegic migraine experience unusually severe migraine episodes. These episodes can include fever, prolonged weakness, seizures, and coma. Mutations in the ATP1A2 and CACNA1A genes disrupt the transport of ions in neurons, which is thought to impair the normal release and uptake of certain neurotransmitters in the brain. The resulting abnormal signaling may lead to the severe headaches and auras characteristic of sporadic hemiplegic migraine.
Succinyl-CoA:3-ketoacid CoA transferase deficiency https://ghr.nlm.nih.gov/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency Coma The signs and symptoms of SCOT deficiency typically appear within the first few years of life. Affected individuals experience episodes of extreme tiredness (lethargy), appetite loss, vomiting, rapid breathing, and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. About half of affected individuals have a ketoacidotic attack within the first 4 days of life. Affected individuals have no symptoms of the disorder between ketoacidotic attacks. OXCT1 gene mutations result in the production of a SCOT enzyme with little or no function. A reduction in the amount of functional enzyme leads to an inability to break down ketones, resulting in decreased energy production and an elevated level of ketones in the blood. If these signs become severe, a ketoacidotic attack can occur. Individuals with mutations that create an enzyme with partial function are still prone to ketoacidotic attacks, but are less likely to have persistent ketosis.
Timothy syndrome https://ghr.nlm.nih.gov/condition/timothy-syndrome Sudden death Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. This abnormality in the heart's electrical system can cause irregular heartbeats (arrhythmia), which can lead to sudden death. Researchers have identified two forms of Timothy syndrome. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Mutations in the CACNA1C gene Abnormality in the heart's electrical system can cause irregular heartbeats (arrhythmia), which can lead to sudden death.
Type 1 diabetes https://ghr.nlm.nih.gov/condition/type-1-diabetes Coma and death In severe cases, diabetic ketoacidosis can lead to coma and death. Type 1 diabetes is generally considered to be an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. For unknown reasons, in people with type 1 diabetes the immune system damages the insulin-producing beta cells in the pancreas. Damage to these cells impairs insulin production and leads to the signs and symptoms of type 1 diabetes.The risk of developing type 1 diabetes is increased by certain variants of the HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria. Also other identified (CCR5, CTLA4, FOXP3, HLA-DQA1, HLA-DQB1, HLA-DRB1, HNF1A, IL2RA, IL6, INS, ITPR3, OAS1, PTPN22, SUMO)
Wolff-Parkinson-White syndrome https://ghr.nlm.nih.gov/condition/wolff-parkinson-white-syndrome Syncope, Cardiac arrest, Sudden death Resulting symptoms include dizziness, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, and fainting (syncope). In rare cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to cardiac arrest and sudden death. In most cases, the cause of Wolff-Parkinson-White syndrome is unknown. A small percentage of all cases are caused by mutations in the PRKAG2 gene. In rare cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to cardiac arrest and sudden death.
X-linked adrenoleukodystrophy https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy Coma X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma. ABCD1 gene mutations result in a shortage (deficiency) of ALDP. When this protein is lacking, the transport and subsequent breakdown of VLCFAs is disrupted, causing abnormally high levels of these fats in the body. The accumulation of VLCFAs may be toxic to the adrenal cortex and myelin. Research suggests that the accumulation of VLCFAs triggers an inflammatory response in the brain, which could lead to the breakdown of myelin.
X-linked cardiac valvular dysplasia https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia Sudden death X-linked cardiac valvular dysplasia is a condition characterized by the abnormal development (dysplasia) of heart (cardiac) valves. Other rare complications of X-linked cardiac valvular dysplasia include inflammation of the inner lining of the heart (endocarditis), abnormal blood clots, or sudden death. Caused by mutations in the FLNA gene Other rare complications of X-linked cardiac valvular dysplasia include inflammation of the inner lining of the heart (endocarditis), abnormal blood clots, or sudden death.

Syndroms related to vision impairment
Name GHR-webpage Problems Genes
17β-hydroxysteroid dehydrogenase type 10 deficiency https://ghr.nlm.nih.gov/condition/hsd10-disease vision loss HSD17B10 gene mutations cause HSD10 disease reduce the amount of HSD10 protein in cells, impair their structure or function, or both, which leads to a deficiency of the functional complex in which it plays a part. This deficiency impairs the production of mitochondrial tRNAs. Without enough tRNAs, the mitochondrial synthesis of proteins involved in cellular energy production is reduced. A shortage of these proteins results in insufficient energy production in cells of the brain, eyes, and heart, leading to the characteristic features of HSD10 disease.
19p13.13 deletion syndrome https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome strabismus and underdevelopment of the optic nerves Maybe the loss of the following genes: BEST2, CACNA1, CAL, MAST, and NFI.
1p36 deletion syndrome https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome may have vision problem 1p36 deletion
1q21.1 microdeletion https://ghr.nlm.nih.gov/condition/1q211-microdeletion Other common signs and symptoms of 1q21.1 microdeletions include eye problems such as clouding of the lenses (cataracts). 1q21.1 microdeletion are missing a sequence of about 1.35 million DNA building blocks (base pairs), also written as 1.35 megabases (Mb), in the q21.1 region of chromosome 1. However, the exact size of the deleted region varies.
Abetalipoproteinemia https://ghr.nlm.nih.gov/condition/abetalipoproteinemia Individuals with this condition may also develop an eye disorder called retinitis pigmentosa, in which breakdown of the light-sensitive layer (retina) at the back of the eye can cause vision loss. In individuals with abetalipoproteinemia, the retinitis pigmentosa can result in complete vision loss. People with abetalipoproteinemia may also have other eye problems, including involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and weakness of the external muscles of the eye (ophthalmoplegia). MTTP gene mutations lead to the production of microsomal triglyceride transfer protein with reduced or absent function and unable to help in the formation of beta-lipoproteins. A lack of beta-lipoproteins causes severely reduced absorption (malabsorption) of dietary fats and fat-soluble vitamins from the digestive tract into the bloodstream. These nutritional deficiencies lead to health problems in people with abetalipoproteinemia.
Achromatopsia https://ghr.nlm.nih.gov/condition/achromatopsia Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination. Achromatopsia also involves other problems with vision, including an increased sensitivity to light and glare (photophobia), involuntary back-and-forth eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). Affected individuals can also have farsightedness (hyperopia) or, less commonly, nearsightedness (myopia). These vision problems develop in the first few months of life. Achromatopsia results from changes in one of several genes: CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H. Mutations in any of the genes listed above prevent cones from reacting appropriately to light, which interferes with phototransduction. In people with complete achromatopsia, cones are nonfunctional, and vision depends entirely on the activity of rods. The loss of cone function leads to a total lack of color vision and causes the other vision problems. People with incomplete achromatopsia retain some cone function. These individuals have limited color vision, and their other vision problems tend to be less severe.Some people with achromatopsia do not have identified mutations in any of the known genes. In these individuals, the cause of the disorder is unknown. Other genetic factors that have not been identified likely contribute to this condition.
ADNP syndrome https://ghr.nlm.nih.gov/condition/adnp-syndrome Eye and vision abnormalities, such as eyes that do not point in the same direction (strabismus) and farsightedness (hyperopia), also occur in ADNP syndrome. Mutations in the ADNP gene
Age-related macular degeneration https://ghr.nlm.nih.gov/condition/age-related-macular-degeneration A leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends to worsen over time. Researchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The condition typically affects vision in both eyes, although vision loss often occurs in one eye before the other. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly. This form of the condition is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted. Researchers have considered changes in many genes (ABCA4, APOE, ARMS2, ASPM, BEST1, C2, C3, C9, CETP, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CF1, COL8A , COL10A1, CST3, CX3CR, ELOVL, ERCC6, F13B, FBLN5, FILIP1L, FRK, HMCN1, HTRA1, LIPC, MAP2, TIMP3, TNFRSF10A, and VEGFA) as possible risk factors for age-related macular degeneration.
Aicardi syndrome https://ghr.nlm.nih.gov/condition/aicardi-syndrome Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina).In addition to chorioretinal lacunae, people with Aicardi syndrome may have other eye abnormalities such as small or poorly developed eyes (microphthalmia) or a gap or hole (coloboma) in the optic nerve, a structure that carries information from the eye to the brain. These eye abnormalities may cause blindness in affected individuals. The cause of Aicardi syndrome is unknown. Because it occurs almost exclusively in females, researchers believe that it is probably the result of a mutation in a gene on the X chromosome.
Aicardi-Goutières syndrome https://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome vision problems Mutations in several genes can cause Aicardi-Goutières syndrome. (ADA, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 , TREX1
ALG1-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation Eye problems that may occur in people with this condition include eyes that do not point in the same direction (strabismus) or involuntary eye movements (nystagmus). Rarely, affected individuals develop vision loss. ALG1 gene mutations lead to the production of an abnormal enzyme with reduced activity. The poorly functioning enzyme cannot add mannose to sugar chains efficiently, and the resulting oligosaccharides are often incomplete. Although the short oligosaccharides can be transferred to proteins and fats, the process is not as efficient as with the full-length oligosaccharide. The wide variety of signs and symptoms in ALG1-CDG are likely due to impaired glycosylation of proteins and lipids that are needed for normal function of many organs and tissues.
ALG6-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation Some individuals with ALG6-CDG have eye abnormalities including eyes that do not look in the same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. ALG6 gene mutations lead to the production of an abnormal enzyme with reduced or no activity. Without a properly functioning enzyme, glycosylation cannot proceed normally, and oligosaccharides are incomplete. As a result, glycosylation is reduced or absent. The wide variety of signs and symptoms in ALG6-CDG are likely due to impaired glycosylation of proteins and fats that are needed for normal function in many organs and tissues, including the brain, eyes, liver, and hormone-producing (endocrine) system.
Alpha-mannosidosis https://ghr.nlm.nih.gov/condition/alpha-mannosidosis Affected individuals may also experience a clouding of the lens of the eye (cataract). Mutations in the MAN2B1 gene interfere with the ability of the alpha-mannosidase enzyme to perform its role in breaking down mannose-containing oligosaccharides. These oligosaccharides accumulate in the lysosomes and cause cells to malfunction and eventually die. Tissues and organs are damaged by the abnormal accumulation of oligosaccharides and the resulting cell death, leading to the characteristic features of alpha-mannosidosis.
Alpha-methylacyl-CoA racemase deficiency https://ghr.nlm.nih.gov/condition/alpha-methylacyl-coa-racemase-deficiency Vision problems caused by deterioration of the light-sensitive layer at the back of the eye (the retina) can also occur in this disorder. Most individuals with AMACR deficiency have an AMACR gene mutation that results in a lack (deficiency) of functional enzyme. The enzyme deficiency leads to accumulation of pristanic acid in the blood. However, it is unclear how this accumulation is related to the specific signs and symptoms of AMACR deficiency.
Alport syndrome https://ghr.nlm.nih.gov/condition/alport-syndrome Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). Mutations in the COL4A3, COL4A4, and COL4A5 genes. These genes each provide instructions for making one component of a protein called type IV collagen. In the eye, this protein is important for maintaining the shape of the lens and the normal color of the retina. Mutations that disrupt type IV collagen can result in misshapen lenses and an abnormally colored retina.
Alström syndrome https://ghr.nlm.nih.gov/condition/alstrom-syndrome progressive loss of vision begin in infancy or early childhood Mutations in the ALMS1 gene
Aniridia https://ghr.nlm.nih.gov/condition/aniridia Complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). can also have other eye problems. Increased pressure in the eye (glaucoma) typically appears in late childhood or early adolescence. Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia. In about 10 percent of affected people, the structures that carry information from the eyes to the brain (optic nerves) are underdeveloped. Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes. Mutations in the PAX6 gene result in the production of a nonfunctional PAX6 protein that is unable to bind to DNA and regulate the activity of other genes. A lack of functional PAX6 protein disrupts the formation of the eyes during embryonic development.
Ankylosing spondylitis https://ghr.nlm.nih.gov/condition/ankylosing-spondylitis Ankylosing spondylitis affects the eyes in up to 40 percent of cases, leading to episodes of eye inflammation called acute iritis. Acute iritis causes eye pain and increased sensitivity to light (photophobia). A variation of the HLA-B gene called HLA-B27 increases the risk of developing ankylosing spondylitis. Although many people with ankylosing spondylitis have the HLA-B27 variation, most people with this version of the HLA-B gene never develop the disorder. It is not known how HLA-B27 increases the risk of developing ankylosing spondylitis. Variations in several additional genes, including ERAP1, IL1A, and IL23R, have also been associated with ankylosing spondylitis. Although these genes play critical roles in the immune system, it is unclear how variations in these genes affect a person's risk of developing ankylosing spondylitis. Changes in genes that have not yet been identified are also believed to affect the chances of developing ankylosing spondylitis and influence the progression of the disorder. Some of these genes likely play a role in the immune system, while others may have different functions. Researchers are working to identify these genes and clarify their role in ankylosing spondylitis.
Apert syndrome https://ghr.nlm.nih.gov/condition/apert-syndrome Shallow eye sockets can cause vision problems. Mutations in the FGFR2
Arts syndrome https://ghr.nlm.nih.gov/condition/arts-syndrome#genes In early childhood, affected boys develop vision loss caused by degeneration of nerves that carry information from the eyes to the brain (optic nerve atrophy). Mutations in the PRPS1 gene cause Arts syndrome.
Asphyxiating thoracic dystrophy https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy Less common features includes an eye disease called retinal dystrophy that can lead to vision loss. Mutations in at least 11 genes (CEP12 , CSPP1, DYNC2H1, IFT8 , IFT140, IFT17, TTC21, WDR19, WDR34, WDR35, WDR60) have been found to cause asphyxiating thoracic dystrophy. Genetic changes in the IFT80 gene were the first to be associated with this condition. Later, researchers discovered that mutations in another gene, DYNC2H1, account for up to half of all cases. Mutations in other genes each cause a small percentage of cases. In total, about 70 percent of people with asphyxiating thoracic dystrophy have mutations in one of the known genes.
Ataxia neuropathy spectrum https://ghr.nlm.nih.gov/condition/ataxia-neuropathy-spectrum Other signs and symptoms can include blindness. Ataxia neuropathy spectrum is caused by mutations in the POLG gene or, rarely, the TWNK gene.
Ataxia with oculomotor apraxia https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision. Mutations in the APTX and SETX genes cause ataxia with oculomotor apraxia types 1 and 2, respectively. Mutations in other genes (PIK3R, PNKP) re responsible for the rare types of ataxia with oculomotor apraxia.
Ataxia with vitamin E deficiency https://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. TTPA gene mutations impair the activity of the αTTP protein, resulting in an inability to retain and use dietary vitamin E.
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy https://ghr.nlm.nih.gov/condition/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy Other features that can occur as the condition worsens include degeneration of the nerves that carry information from the eyes to the brain (optic atrophy); clouding of the lenses of the eyes (cataracts); DNMT1 gene mutations that cause ADCADN affect a region of the DNA methyltransferase 1 enzyme that helps target the methylation process to the correct segments of DNA. As a result of these mutations, methylation is abnormal, which affects the expression of multiple genes. Maintenance of the neurons that make up the nervous system is disrupted, leading to the signs and symptoms of ADCADN.
Autosomal dominant congenital stationary night blindness https://ghr.nlm.nih.gov/condition/autosomal-dominant-congenital-stationary-night-blindness night blindness Congenital disorder of retina Mutations in the RHO, GNAT1, or PDE6B gene disrupt the normal signaling that occurs within rod cells. As a result, the rods cannot effectively transmit signals to the brain, leading to a lack of visual perception in low light.
Autosomal dominant vitreoretinochoroidopathy https://ghr.nlm.nih.gov/condition/autosomal-dominant-vitreoretinochoroidopathy mild reduction to complete loss of vision due to glaucoma or cataracts. A characteristic feature of ADVIRC, visible with a special eye exam, is a circular band of excess coloring (hyperpigmentation) in the retina. This feature can help physicians diagnose the disorder. Affected individuals may also have white spots on the retina. defects in the retinal pigment epithelium or the photoreceptors causing microcornea and shallow anterior chamber mutations in the BEST1 gene which plays a critical role in normal vision
Autosomal recessive congenital stationary night blindness https://ghr.nlm.nih.gov/condition/autosomal-recessive-congenital-stationary-night-blindness A disorder of the retina. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time. Mutations in several genes (CABP4, GPR179, GRM6, LRIT3, SLC24A1, TRPM) can cause autosomal recessive congenital stationary night blindness. Each of these genes provide instructions for making proteins that are found in the retina. These proteins are involved in sending (transmitting) visual signals from cells called rods, which are specialized for vision in low light, to cells called bipolar cells, which relay the signals to other retinal cells. This signaling is an essential step in the transmission of visual information from the eyes to the brain.Mutations in two genes, GRM6 and TRPM1, cause most cases of this condition. These genes provide instructions for making proteins that are necessary for bipolar cells to receive and relay signals. Mutations in other genes involved in the same bipolar cell signaling pathway are likely responsible for a small percentage of cases of autosomal recessive congenital stationary night blindness.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay https://ghr.nlm.nih.gov/condition/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay People with ARSACS typically have involuntary eye movements (nystagmus). Other problems may include yellow streaks of fatty tissue in the light-sensitive tissue at the back of the eye (hypermyelination of the retina). Mutations in the SACS gene cause the production of an unstable sacsin protein that does not function normally. It is unclear how the abnormal sacsin protein affects the brain and skeletal muscles and results in the signs and symptoms of ARSACS.
Axenfeld-Rieger syndrome https://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome the colored part of the eye (the iris), may be thin or poorly developed. often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, About half of affected individuals develop glaucoma Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1. PITX2 gene mutations cause type 1, and FOXC1 gene mutations cause type 3. The gene associated with type 2 is likely located on chromosome 13, but it has not been identified. Mutations in either the PITX2 or FOXC1 gene disrupt the activity of other genes that are needed for normal development. Impaired regulation of these genes leads to problems in the formation of the anterior segment of the eye
Bardet-Biedl syndrome https://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. Bardet-Biedl syndrome can result from mutations in at least 14 different genes (often called BBS genes, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290, MKKS, MKS1, TRIM32, TTC8). Mutations in BBS genes lead to problems with the structure and function of cilia. About one-quarter of all cases of Bardet-Biedl syndrome result from mutations in the BBS1 gene. Another 20 percent of cases are caused by mutations in the BBS10 gene. The other BBS genes each account for only a small percentage of all cases of this condition. In about 25 percent of people with Bardet-Biedl syndrome, the cause of the disorder is unknown.
Behçet disease https://ghr.nlm.nih.gov/condition/behcet-disease An inflammation of the eye called uveitis is found in more than half of people with Behçet disease. Eye problems are more common in younger people with the disease and affect men more often than women. Uveitis can result in blurry vision and an extreme sensitivity to light (photophobia). Rarely, inflammation can also cause eye pain and redness. If untreated, the eye problems associated with Behçet disease can lead to blindness. a particular variation in the HLA-B gene has been associated with the risk of developing Behçet disease.
Benign essential blepharospasm https://ghr.nlm.nih.gov/condition/benign-essential-blepharospasm Abnormal blinking or spasms of the eyelids. As the condition progresses, spasms of the muscles surrounding the eyes cause involuntary winking or squinting. Affected individuals have increasing difficulty keeping their eyes open, which can lead to severe vision impairment. Although genetic factors are almost certainly involved in benign essential blepharospasm, no genes have been clearly associated with the condition. Several studies have looked at the relationship between common variations (polymorphisms) in the DRD5 and TOR1A genes and the risk of developing benign essential blepharospasm. These studies have had conflicting results, with some showing an association and others finding no connection.
Beta-ureidopropionase deficiency https://ghr.nlm.nih.gov/condition/beta-ureidopropionase-deficiency Deterioration of the optic nerve, which carries visual information from the eyes to the brain, can lead to vision loss in this condition. UPB1 gene mutations can reduce or eliminate beta-ureidopropionase enzyme activity. Loss of this enzyme function reduces the production of beta-aminoisobutyric acid and beta-alanine, and leads to an excess of their precursor molecules, N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine, which are released in the urine. Reduced production of beta-aminoisobutyric acid and beta-alanine may impair the function of these molecules in the nervous system, leading to neurological problems in some people with beta-ureidopropionase deficiency. The extent of the reduction in enzyme activity caused by a particular UPB1 gene mutation,
Bietti crystalline dystrophy https://ghr.nlm.nih.gov/condition/bietti-crystalline-dystrophy progressive vision loss. People with Bietti crystalline dystrophy typically begin noticing vision problems in their teens or twenties. They experience a loss of sharp vision (reduction in visual acuity) and difficulty seeing in dim light (night blindness). They usually lose areas of vision (visual field loss), most often side (peripheral) vision. Color vision may also be impaired. small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). CYP4V2 gene mutations that cause Bietti crystalline dystrophy impair or eliminate the function of this enzyme and are believed to affect lipid breakdown. However, it is unknown how they lead to the specific signs and symptoms of Bietti crystalline dystrophy. For unknown reasons, the severity of the signs and symptoms differs significantly among individuals with the same CYP4V2 gene mutation
Biotinidase deficiency https://ghr.nlm.nih.gov/condition/biotinidase-deficiency vision loss Mutations in the BTD gene reduce or eliminate the activity of biotinidase. Profound biotinidase deficiency results when the activity of biotinidase is reduced to less than 10 percent of normal. Partial biotinidase deficiency occurs when biotinidase activity is reduced to between 10 percent and 30 percent of normal. Without enough of this enzyme, biotin cannot be recycled. The resulting shortage of free biotin impairs the activity of biotin-dependent carboxylases, leading to a buildup of potentially toxic compounds in the body. If the condition is not treated promptly, this buildup damages various cells and tissues, causing the signs and symptoms described above.
Blau syndrome https://ghr.nlm.nih.gov/condition/blau-syndrome Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). Inflammation of any of these structures can lead to severe vision impairment or blindness. The NOD2 gene mutations that cause Blau syndrome result in a NOD2 protein that is overactive, which can trigger an abnormal inflammatory reaction. However, it is unclear how overactivation of the NOD2 protein causes the specific pattern of inflammation affecting the joints, eyes, and skin that is characteristic of Blau syndrome.
Blepharophimosis, ptosis, and epicanthus inversus syndrome https://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited. Other structures in the eyes and face may be mildly affected by BPES. Affected individuals are at an increased risk of developing vision problems such as nearsightedness (myopia) or farsightedness (hyperopia) beginning in childhood. They may also have eyes that do not point in the same direction (strabismus) or "lazy eye" (amblyopia) affecting one or both eyes. Mutations in the FOXL2 gene cause BPES types I and II. It is difficult to predict the type of BPES that will result from the many FOXL2 gene mutations. However, mutations that result in a partial loss of FOXL2 protein function generally cause BPES type II. These mutations probably impair regulation of normal development of muscles in the eyelids, resulting in malformed eyelids that cannot open fully. Mutations that lead to a complete loss of FOXL2 protein function often cause BPES type I. These mutations impair the regulation of eyelid development as well as various activities in the ovaries, resulting in eyelid malformation and abnormally accelerated maturation of certain ovarian cells and the premature death of egg cells.
Bohring-Opitz syndrome https://ghr.nlm.nih.gov/condition/bohring-opitz-syndrome Characteristic eye problems occur in people with Bohring-Opitz syndrome. They may have protruding eyes (exophthalmos), eyes that do not point in the same direction (strabismus), widely spaced eyes (hypertelorism), or outside corners of the eyes that point upward (upslanting palpebral fissures). Affected individuals may have nearsightedness (myopia) or abnormalities in the light-sensitive tissue at the back of the eye (the retina) or the nerves that carry information from the eyes to the brain (optic nerves), which can impair vision. It is unclear how ASXL1 gene mutations cause the signs and symptoms of Bohring-Opitz syndrome.
Bosma arhinia microphthalmia syndrome https://ghr.nlm.nih.gov/condition/bosma-arhinia-microphthalmia-syndrome In most people with BAMS, the eyeballs are abnormally small (microphthalmia) or absent (anophthalmia), which causes severe vision impairment or blindness. Additional eye abnormalities common in BAMS include a gap or hole in one of several structures of the eye (coloboma) and clouding of the lenses of the eyes (cataracts). Researchers are unsure how SMCHD1 gene mutations affect the protein's function and lead to the development problems characteristic of BAMS.
Boucher-Neuhäuser syndrome https://ghr.nlm.nih.gov/condition/boucher-neuhauser-syndrome eye abnormalities, most commonly chorioretinal dystrophy. Chorioretinal dystrophy refers to problems with the light-sensitive tissue that lines the back of the eye (the retina) and a nearby tissue layer called the choroid. These eye abnormalities lead to impaired vision. People with Boucher-Neuhäuser syndrome can also have abnormal eye movements, including involuntary side-to-side movements of the eyes (nystagmus). PNPLA6 gene mutations are thought to impair NTE's function. However, it is unclear how these mutations cause Boucher-Neuhäuser syndrome.
Bradyopsia https://ghr.nlm.nih.gov/condition/bradyopsia the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day. Some people with bradyopsia also have difficulty seeing some moving objects, particularly small objects moving against a bright background. As a result, they often have trouble watching or participating in sports with a ball, such as soccer or tennis. People with bradyopsia can have reduced sharpness (acuity) of vision, although acuity may depend on the conditions under which vision is tested. Visual acuity may appear to be severely affected if it is tested under bright lights, but it can be near normal if tested in a dim environment. The ability to see colors and distinguish between them is normal. Mutations in either the RGS9 or RGS9BP gene prevent photoreceptors from recovering quickly after responding to light. Normally they return to their resting state in a fraction of a second, but in people with mutations in one of these genes, it can take ten seconds or longer. During that time, the photoreceptors cannot respond to light. This delay causes temporary blindness in response to changing light conditions and interferes with seeing small objects when they are in motion.
Branchio-oculo-facial syndrome https://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome "Oculo-" refers to the eyes. Many people with branchio-oculo-facial syndrome have malformations of the eyes that can lead to vision impairment. These abnormalities include unusually small eyeballs (microphthalmia), no eyeballs (anophthalmia), a gap or split in structures that make up the eyes (coloboma), or blockage of the tear ducts (nasolacrimal duct stenosis). Most TFAP2A gene mutations that cause branchio-oculo-facial syndrome change single protein building blocks (amino acids) in the transcription factor AP-2α protein. These changes tend to occur in a region of the protein that allows it to bind to DNA. Without this function, transcription factor AP-2α cannot control the activity of genes during development, which disrupts the development of the eyes, ears, and face and causes the features of branchio-oculo-facial syndrome.
Brooke-Spiegler syndrome https://ghr.nlm.nih.gov/condition/brooke-spiegler-syndrome People with Brooke-Spiegler syndrome typically begin developing tumors in early adulthood. The tumors are most often found on the head and neck. They grow larger and increase in number over time. In severe cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. People with Brooke-Spiegler syndrome are born with a mutation in one of the two copies of the CYLD gene in each cell. This mutation prevents the cell from making functional CYLD protein from the altered copy of the gene. However, enough protein is usually produced from the other, normal copy of the gene to regulate cell growth effectively. For tumors to develop, a second mutation or deletion of genetic material involving the other copy of the CYLD gene must occur in certain cells during a person's lifetime.When both copies of the CYLD gene are mutated in a particular cell, that cell cannot produce any functional CYLD protein. The loss of this protein allows the cell to grow and divide in an uncontrolled way to form a tumor. In people with Brooke-Spiegler syndrome, a second CYLD mutation typically occurs in multiple cells over an affected person's lifetime. The loss of CYLD protein in different types of cells in the skin leads to the growth of a variety of skin appendage tumors.
C3 glomerulopathy https://ghr.nlm.nih.gov/condition/c3-glomerulopathy some people with dense deposit disease develop a buildup of yellowish deposits called drusen in the light-sensitive tissue at the retina. These deposits usually appear in childhood or adolescence and can cause vision problems later in life. C3 glomerulopathy is associated with changes in many genes (ADAM19. C3 C3AR1 C8A CD46 CFB CFD CFH CFHR1 CFHR2 CFHR3 CFHR5 CFI CR1)
Camurati-Engelmann disease https://ghr.nlm.nih.gov/condition/camurati-engelmann-disease In about a quarter of individuals with Camurati-Engelmann disease, the thickened skull increases pressure on the brain or compresses the spinal cord, which can cause a variety of neurological problems, including headaches, hearing loss, vision problems, The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of an overly active TGFβ-1 protein. This abnormal TGFβ-1 protein activity causes an increase in signaling, which leads to more bone formation. As a result, the bones in the arms, legs, and skull are thicker than normal, contributing to the movement and neurological problems often experienced by individuals with Camurati-Engelmann disease.
Cardiofaciocutaneous syndrome https://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome Additional features of this disorder in children and adults include problems with vision, Cardiofaciocutaneous syndrome can be caused by mutations in several genes. Mutations in the BRAF gene are most common, accounting for 75 to 80 percent of all cases. Another 10 to 15 percent of cases result from mutations in one of two similar genes, MAP2K1 and MAP2K2. Fewer than 5 percent of cases are caused by mutations in the KRAS gene.
Carpenter syndrome https://ghr.nlm.nih.gov/condition/carpenter-syndrome vision problems Mutations in the RAB23 or MEGF8 gene lead to the production of proteins with little or no function. It is unclear how disruptions in protein function lead to the features of Carpenter syndrome, but it is likely that interference with normal body patterning plays a role. For reasons that are unknown, people with MEGF8 gene mutations are more likely to have dextrocardia and other organ positioning abnormalities and less severe craniosynostosis than individuals with RAB23 gene mutations.
Cerebral cavernous malformation https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation Other people with this condition may experience serious signs and symptoms such as vision loss Mutations in these three genes (KRIT1 (also known as CCM1), CCM2, and PDCD10 (also known as CCM3)) account for 85 to 95 percent of all cases of familial cerebral cavernous malformations. The remaining 5 to 15 percent of cases may be due to mutations in unidentified genes or to other unknown causes.
Cerebrotendinous xanthomatosis https://ghr.nlm.nih.gov/condition/cerebrotendinous-xanthomatosis Other features of cerebrotendinous xanthomatosis include clouding of the lenses of the eyes (cataracts) . a redceA ability to produce and release a digestive fluid called bile (cholestasis), which can lead to a yellowing of the stheof the eyes (jaundice); Mutations in the CYP27A1 gene lead to the production of a nonfunction or abnormal sterol 27-hydroxylase that cannot help form chenodeoxycholic acid. As a result, other molecules are formed by an alternative pathway.
Chanarin-Dorfman syndrome https://ghr.nlm.nih.gov/condition/chanarin-dorfman-syndrome Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), ABHD5 gene mutations impair the protein's ability to activate the ATGL enzyme. An inactive enzyme makes the breakdown of triglycerides impossible, causing them to accumulate in tissues throughout the body. The buildup of triglycerides results in the signs and symptoms of Chanarin-Dorfman syndrome.
Charcot-Marie-Tooth disease https://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease In some cases, affected individuals experience gradual loss of vision. CMT1 is caused by mutations in the following genes: PMP22 (CMT1A and CMT1E), MPZ (CMT1B), LITAF (CMT1C), EGR2 (CMT1D), and NEFL (CMT1F). CMT2 can result from alterations in many genes, including MFN2 and KIF1B (CMT2A); RAB7A (CMT2B); LMNA (CMT2B1); TRPV4 (CMT2C); BSCL2 and GARS (CMT2D); NEFL (CMT2E); HSPB1 (CMT2F); MPZ (CMT2I and CMT2J); GDAP1 (CMT2K); and HSPB8 (CMT2L). Certain DNM2 gene mutations also cause a form of CMT2. CMT4 is caused by mutations in the following genes: GDAP1 (CMT4A), MTMR2 (CMT4B1), SBF2 (CMT4B2), SH3TC2 (CMT4C), NDRG1 (CMT4D), EGR2 (CMT4E), PRX (CMT4F), FGD4 (CMT4H), and FIG4 (CMT4J). Intermediate forms of the disorder can be caused by alterations in genes including DNM2, MPZ, YARS, and GDAP1. CMTX is caused by mutations in genes including GJB1 (CMTX1) and PRPS1 (CMTX5). Mutations in additional genes, some of which have not been identified, also cause various forms of Charcot-Marie-Tooth disease.
CHARGE syndrome https://ghr.nlm.nih.gov/condition/charge-syndrome Most individuals with CHARGE syndrome have a gap or hole in one of the structures of the eye (coloboma), which forms during early development. A coloboma may be present in one or both eyes and may impair a person's vision, depending on its size and location. Some affected individuals also have abnormally small or underdeveloped eyes (microphthalmia). Mutations in the CHD7 gene cause most cases of CHARGE syndrome. Most mutations in the CHD7 gene lead to the production of an abnormal CHD7 protein that is broken down prematurely. Shortage of this protein is thought to disrupt chromatin remodeling and the regulation of gene expression. Changes in gene expression during embryonic development likely cause the signs and symptoms of CHARGE syndrome. A small percentage of individuals with CHARGE syndrome do not have an identified mutation in the CHD7 gene. Some of them may have a genetic change affecting the CHD7 gene that has not been found, and others may have a change in a different gene, although additional genes associated with CHARGE syndrome have not been identified.
Chediak-Higashi syndrome https://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome Chediak-Higashi syndrome is also characterized by a condition called oculocutaneous albinism, Oculocutaneous albinism also causes vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia). Chediak-Higashi syndrome is caused by mutations in the LYST gene.In pigment cells calle d melanocytes, cellular structures called melanosomes (which are related to lysosomes) are abnormally large. Melanosomes produce and distribute a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. People with Chediak-Higashi syndrome have oculocutaneous albinism because melanin is trapped within the giant melanosomes and is unable to contribute to skin, hair, and eye pigmentation. Chediak-Higashi syndrome is caused by mutations in the LYST gene. EopPle with Chediak-Higashi syndrome have oculocutaneous albinism because melanin is trapped within the giant melanosomes and is unable to contribute to skin, hair, and eye pigmentation.
Cherubism https://ghr.nlm.nih.gov/condition/cherubism In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown.
CHOPS syndrome https://ghr.nlm.nih.gov/condition/chops-syndrome Other features that can occur in CHOPS syndrome include clouding of the lens of the eye (cataract); Mutations in the AFF4 gene are thought to result in an AFF4 protein that is not broken down when it is no longer needed, so more AFF4 protein is available than usual. The excess AFF4 protein interferes with normal pauses in transcription. This dysregulation of transcription leads to problems in the development of multiple organs and tissues, resulting in the signs and symptoms of CHOPS syndrome.
Chordoma https://ghr.nlm.nih.gov/condition/chordoma A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. A chordoma at the base of the skull (occipital chordoma) may lead to double vision (diplopia) Changes in the TBXT gene have been associated with chordoma.
Choroideremia https://ghr.nlm.nih.gov/condition/choroideremia Progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity). Mutations in the CHM gene cause choroideremia. The CHM gene provides instructions for producing the Rab escort protein-1 (REP-1).Research suggests that when REP-1 is absent or nonfunctional, REP-2 can perform the protein escort duties of REP-1 in many of the body's tissues. Very little REP-2 protein is present in the retina, however, so it cannot compensate for the loss of REP-1 in this tissue. Loss of REP-1 function and subsequent misplacement of Rab proteins within the cells of the retina causes the progressive vision loss characteristic of choroideremia.
Citrullinemia https://ghr.nlm.nih.gov/condition/citrullinemia This later-onset form is associated with blind spots (scotomas), Mutations in the ASS1 and SLC25A13 genes cause citrullinemia.
CLPB deficiency https://ghr.nlm.nih.gov/condition/clpb-deficiency Many people with mild, moderate, or severe CLPB deficiency have clouding of the lenses of the eyes (cataracts) from birth (congenital) or beginning in infancy. CLPB gene mutations likely reduce or eliminate the amount of functional CLPB protein. The severity of the condition is thought to be related to the amount of functional protein remaining: severe CLPB deficiency is likely caused by a complete absence of CLPB protein, while moderate and mild CLPB deficiency result when some functional CLPB protein is produced. Researchers are unsure how reduction or absence of this protein leads to the signs and symptoms of CLPB deficiency.
CLN1 disease https://ghr.nlm.nih.gov/condition/cln1-disease By age 2, individuals with this condition often have vision loss Mutations in the PPT1 gene cause CLN1 disease.
CLN10 disease https://ghr.nlm.nih.gov/condition/cln10-disease These individuals have a gradual loss of brain cells and often develop problems with vision loss. Mutations in the CTSD gene cause CLN10 disease. CTSD gene mutations found to cause CLN10 disease that is present at birth lead to a complete lack of cathepsin D enzyme activity. As a result, proteins and fats are not broken down properly and abnormally accumulate within lysosomes. While accumulations of these substances occurs in cells throughout the body, nerve cells appear to be particularly vulnerable to damage caused by the abnormal cell materials. Early and widespread loss of nerve cells in CLN10 disease leads to severe signs and symptoms and death in infancy.
CLN2 disease https://ghr.nlm.nih.gov/condition/cln2-disease#genes Affected children also develop vision loss. Mutations in the TPP1 gene. Mutations in the TPP1 gene greatly reduce or eliminate the production or activity of the tripeptidyl peptidase 1 enzyme. A reduction in functional enzyme results in the incomplete breakdown of certain peptides. CLN2 disease, like other NCLs, is characterized by the accumulation of proteins or peptides and other substances in lysosomes. These accumulations occur in cells throughout the body; however, nerve cells seem to be particularly vulnerable to their effects. The accumulations can cause cell damage leading to cell death. The progressive death of nerve cells in the brain and other tissues leads to the signs and symptoms of CLN2 disease.
CLN3 disease https://ghr.nlm.nih.gov/condition/cln3-disease After 4 to 6 years of normal development, children with this condition develop vision impairment, CLN3 disease is caused by mutations in the CLN3 gene, which provides instructions for making a protein called battenin. It is unclear how mutations in the CLN3 gene lead to the characteristic features of CLN3 disease.
CLN4 disease https://ghr.nlm.nih.gov/condition/cln4-disease CLN4 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision Mutations in the DNAJC5 gene cause CLN4 disease. The DNAJC5 gene provides instructions for making a protein called cysteine string protein alpha (CSPα). DNAJC5 gene mutations lead to the production of an altered CSPα protein. The altered protein cannot perform its function, which reduces protein recycling, causing a shortage (deficiency) of functional proteins needed for impulse transmission. Without normal communication between nerve cells, neurological functions are impaired, contributing to the features of CLN4 disease.
CLN5 disease https://ghr.nlm.nih.gov/condition/cln5-disease Other features of the condition include vision loss. CLN5 disease is caused by mutations in the CLN5 gene, which provides instructions for making a protein whose function is not well understood.
CLN6 disease https://ghr.nlm.nih.gov/condition/cln6-disease Affected individuals can also develop vision loss. Mutations in the CLN6 gene cause CLN6 disease. Most CLN6 gene mutations result in the production of an abnormal CLN6 protein that is quickly broken down (degraded). As a result, there is a severe reduction in the amount of functional CLN6 protein in cells. While it is not known how the loss of this protein causes the signs and symptoms of CLN6 disease, it is likely that the protein's quick degradation contributes to the childhood onset of CLN6 disease.
CLN7 disease https://ghr.nlm.nih.gov/condition/cln7-disease Affected children also develop vision loss. Mutations in the MFSD8 gene cause CLN7 disease. MFSD8 gene mutations likely lead to the production of a protein with altered structure or function. It is unclear how an altered MFSD8 protein leads to the severe neurological features of CLN7 disease.
CLN8 disease https://ghr.nlm.nih.gov/condition/cln8-disease Vision problems may occur in early to mid-adulthood. I Mutations in the CLN8 gene cause CLN8 disease. Some CLN8 gene mutations are thought to drastically reduce the function of the CLN8 protein. Other mutations likely impair transport of the protein to the endoplasmic reticulum, so that it cannot perform its function. It is unclear how a loss or reduction of CLN8 protein leads to the signs and symptoms of CLN8 disease.
Coats plus syndrome https://ghr.nlm.nih.gov/condition/coats-plus-syndrome Characterized by an eye disorder. The disorder causes blood vessels in the retina to be abnormally enlarged (dilated) and twisted. The abnormal vessels leak fluid, which can eventually cause the layers of the retina to separate (retinal detachment). These eye abnormalities often result in vision loss. Mutations in the CTC1 gene impair the function of the CST complex, which affects the replication of telomeres. However, it is unclear how CTC1 gene mutations impact telomere structure and function. Some studies have found that people with CTC1 gene mutations have abnormally short telomeres, while other studies have found no change in telomere length.
Cockayne syndrome https://ghr.nlm.nih.gov/condition/cockayne-syndrome Other signs and symptoms often include vision loss mutations in either the ERCC6 gene (also known as CSB) or the ERCC8 gene (also known as CSA). These genes provide instructions for making proteins that are involved in repairing damaged DNA. The faulty DNA repair underlies photosensitivity in affected individuals, and researchers suspect that it also contributes to the other features of Cockayne syndrome. It is unclear how ERCC6 or ERCC8 gene mutations cause all of the varied features of this condition.
COG5-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/cog5-congenital-disorder-of-glycosylation Less commonly, affected individuals can have hearing loss caused by vision impairment COG5 gene mutations reduce the amount of COG5 protein or eliminate it completely, which disrupts protein transport. This disruption results in abnormal protein glycosylation, which can affect numerous body systems, leading to the signs and symptoms of COG5-CDG. The severity of COG5-CDG is related to the amount of COG5 protein that remains in cells.
Cohen syndrome https://non-governmental/condition/cohen-syndrome Other features common in this condition include worsening nearsightedness (myopia), breakdown (degeneration) of the light-sensitive tissue at the back of the eye (retinal dystrophy) Most mutations in the VPS13B gene are believed to prevent the production of functional VPS13B protein. Studies suggest that a loss of this protein disrupts the organization of the Golgi apparatus and impairs normal glycosylation. However, it is not known how a lack of functional VPS13B protein or these cellular changes lead to the signs and symptoms of Cohen syndrome.
COL4A1-related brain small-vessel disease https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease Some affected people have an eye abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly involves underdevelopment and eventual tearing of the colored part of the eye (iris) and a pupil that is not in the center of the eye. Other eye problems experienced by people with COL4A1-related brain small-vessel disease include clouding of the lens of the eye (cataract) and the presence of arteries that twist and turn abnormally within the light-sensitive tissue at the back of the eye (arterial retinal tortuosity). Axenfeld-Rieger anomaly and cataract can cause impaired vision. Arterial retinal tortuosity can cause episodes of bleeding within the eye following any minor trauma to the eye, leading to temporary vision loss. The COL4A1 gene mutations that cause COL4A1-related brain small-vessel disease result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround.
Coloboma https://ghr.nlm.nih.gov/condition/coloboma Colobomas are missing pieces of tissue in structures that form the eye. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field, generally the upper part. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses.Some people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Microphthalmia may or may not result in significant vision loss. People with coloboma may also have other eye abnormalities, including cataract, glaucoma that can damage the optic nerve, vision problems such as nearsightedness (myopia), nystagmus, or retinal detachment. Coloboma may be caused by changes in many genes involved in the early development of the eye (GDF3, GDF6, MAF, OTX2, PAX6, SHH, VSX2) most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes. Most genetic changes associated with coloboma have been identified only in very small numbers of affected individuals.
Color vision deficiency https://ghr.nlm.nih.gov/condition/color-vision-deficiency Red-green color vision defects are the most common form of color vision deficiency. Affected individuals have trouble distinguishing between some shades of red, yellow, and green. Blue-yellow color vision defects (also called tritan defects), which are rarer, cause problems with differentiating shades of blue and green and cause difficulty distinguishing dark blue from black. These two forms of color vision deficiency disrupt color perception but do not affect the sharpness of vision (visual acuity). A less common and more severe form of color vision deficiency called blue cone monochromacy causes very poor visual acuity and severely reduced color vision. Affected individuals have additional vision problems, which can include increased sensitivity to light (photophobia), involuntary back-and-forth eye movements (nystagmus), and nearsightedness (myopia). Blue cone monochromacy is sometimes considered to be a form of achromatopsia, a disorder characterized by a partial or total lack of color vision with other vision problems. Genetic changes involving the OPN1LW or OPN1MW gene cause red-green color vision defects. These changes lead to an absence of L or M cones or to the production of abnormal opsin pigments in these cones that affect red-green color vision. Blue-yellow color vision defects result from mutations in the OPN1SW gene. These mutations lead to the premature destruction of S cones or the production of defective S cones. Impaired S cone function alters perception of the color blue, making it difficult or impossible to detect differences between shades of blue and green and causing problems with distinguishing dark blue from black.
Complete LCAT deficiency https://ghr.nlm.nih.gov/condition/complete-lcat-deficiency the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision. LCAT gene mutations that cause complete LCAT deficiency either prevent the production of LCAT or impair both alpha-LCAT and beta-LCAT activity, reducing the enzyme's ability to attach cholesterol to lipoproteins. Impairment of this mechanism for reducing cholesterol in the body leads to cholesterol deposits in the corneas,
Cone-rod dystrophy https://ghr.nlm.nih.gov/condition/cone-rod-dystrophy A group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus). Mutations in more than 30 genes (ABCA4, ADAM9, AIPL1, C8orf37, C21orf2, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGA3, CNGB3, CNNM4, CRB1, CRX, EYS, GUCA1A, GUCY2D, KCNV2, PDE6C , PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5, TULP1, UNC119) are known to cause cone-rod dystrophy. Approximately 20 of these genes are associated with the form of cone-rod dystrophy that is inherited in an autosomal recessive pattern. Mutations in the ABCA4 gene are the most common cause of autosomal recessive cone-rod dystrophy, accounting for 30 to 60 percent of cases. At least 10 genes have been associated with cone-rod dystrophy that is inherited in an autosomal dominant pattern. Mutations in the GUCY2D and CRX genes account for about half of these cases. Changes in at least two genes cause the X-linked form of the disorder, which is rare. Mutations in any of the genes associated with cone-rod dystrophy lead to a gradual loss of rods and cones in the retina. The progressive degeneration of these cells causes the characteristic pattern of vision loss that occurs in people with cone-rod dystrophy.
Congenital cataracts, facial dysmorphism, and neuropathy https://ghr.nlm.nih.gov/condition/congenital-cataracts-facial-dysmorphism-and-neuropathy Characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). All known individuals with CCFDN have the same mutation in both copies of the CTDP1 gene in each cell. This mutation alters the way the gene's instructions are pieced together to produce the carboxy-terminal domain phosphatase 1 protein. The altered instructions introduce a premature stop signal, resulting in an abnormally short, nonfunctional protein that cannot regulate transcription. Defective regulation of the transcription process affects the development and function of many parts of the body. It is not known how nonfunctional carboxy-terminal domain phosphatase 1 protein results in the specific signs and symptoms of CCFDN.
Congenital dyserythropoietic anemia https://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia In adulthood, abnormalities of a specialized tissue at the back of the eye (the retina) can cause vision impairment. It is unclear how CDNA1 gene mutations cause the characteristic features of CDA type I.Researchers are working to determine how mutations in the SEC23B gene lead to the signs and symptoms of CDA type II.
Congenital fibrosis of the extraocular muscles https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles A disorder that affects the muscles that surround the eyes. Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may be misaligned such that they look in different directions (strabismus). Additionally, many people with congenital fibrosis of the extraocular muscles have droopy eyelids (ptosis), which further limits their vision. CFEOM1 and rare cases of CFEOM3 result from mutations in the KIF21A gene. Mutations in the KIF21A gene likely alter the protein's ability to transport materials within nerve cells, preventing the normal development of these cranial nerves and the extraocular muscles they control. Abnormal function of the extraocular muscles leads to restricted eye movement and related problems with vision. Mutations in the PHOX2A gene cause CFEOM2. Mutations likely eliminate the function of the PHOX2A protein, which prevents the normal development of these cranial nerves and the extraocular muscles they control. In most cases of CFEOM3, the genetic cause of the condition is unknown. Studies suggest that a gene associated with CFEOM3 may be located near one end of chromosome 16. The gene associated with Tukel syndrome has not been identified either, although researchers think that it may be located near one end of chromosome 21.
Congenital hyperinsulinism https://ghr.nlm.nih.gov/condition/congenital-hyperinsulinism Repeated episodes of low blood sugar increase the risk for serious complications such as vision loss Mutations in at least nine genes (ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, KCNJ11, SLC16A1, UCP )have been found to cause congenital hyperinsulinism. Mutations in the ABCC8 gene are the most common known cause of the disorder. They account for this condition in approximately 40 percent of affected individuals. Less frequently, mutations in the KCNJ11 gene have been found in people with congenital hyperinsulinism. Mutations in each of the other genes associated with this condition account for only a small percentage of cases.
Congenital stromal corneal dystrophy https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy An inherited eye disorder primarily affects the cornea. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, glare, and a loss of sharp vision (reduced visual acuity). Visual impairment is often associated with additional eye abnormalities, including "lazy eye" (amblyopia), eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia). Mutations in the DCN gene lead to the production of a defective version of decorin. This abnormal protein interferes with the organization of collagen fibrils in the cornea. As poorly arranged collagen fibrils accumulate, the cornea becomes cloudy. These corneal changes lead to reduced visual acuity and related eye abnormalities.
Costeff syndrome https://ghr.nlm.nih.gov/condition/costeff-syndrome Characterized by vision loss. Affected people have degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision loss that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus). OPA3 gene mutations that result in Costeff syndrome lead to a loss of OPA3 protein function. Cells without any functional OPA3 protein have abnormally shaped mitochondria. These cells likely have reduced energy production and die sooner than normal, decreasing energy availability in the body's tissues. It is unclear why the optic nerves and the parts of the brain that control movement are particularly affected.
Costello syndrome https://ghr.nlm.nih.gov/condition/costello-syndrome Other signs and symptoms can include problems with vision. Mutations in the HRAS gene cause Costello syndrome. Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active). The overactive protein directs cells to grow and divide constantly, which can lead to the development of cancerous and noncancerous tumors. It is unclear how mutations in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division.
Craniofacial microsomia https://ghr.nlm.nih.gov/condition/craniofacial-microsomia Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss. It is unclear what genes are involved in craniofacial microsomia.
Craniometaphyseal dysplasia https://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. Mutations in the ANKH gene that cause autosomal dominant craniometaphyseal dysplasia may decrease the ANKH protein's ability to transport pyrophosphate out of cells. Reduced levels of pyrophosphate can increase bone mineralization, contributing to the bone overgrowth seen in craniometaphyseal dysplasia. Why long bones are shaped differently and only the skull bones become thicker in people with this condition remains unclear.
Crouzon syndrome https://ghr.nlm.nih.gov/condition/crouzon-syndrome Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); Mutations in the FGFR2 gene probably overstimulate signaling by the FGFR2 protein, which causes the bones of the skull to fuse prematurely.
Cyclic vomiting syndrome https://ghr.nlm.nih.gov/condition/cyclic-vomiting-syndrome Additional symptoms can include an increased sensitivity to light (photophobia) the causes of cyclic vomiting syndrome have yet to be determined,Some cases of cyclic vomiting syndrome, particularly those that begin in childhood, may be related to changes in mitochondrial DNA
Cystinosis https://ghr.nlm.nih.gov/condition/cystinosis By about the age of 2, cystine crystals may be present in the clear covering of the eye (cornea). Other signs and symptoms that may occur in untreated people, especially after adolescence, include muscle deterioration, blindness, People with non-nephropathic or ocular cystinosis typically experience photophobia due to cystine crystals in the cornea All three types of cystinosis are caused by mutations in the CTNS gene. Mutations in this gene lead to a deficiency of a transporter protein called cystinosin. Within cells, this protein normally moves cystine out of the lysosomes, which are compartments in the cell that digest and recycle materials. When cystinosin is defective or missing, cystine accumulates and forms crystals in the lysosomes. The buildup of cystine damages cells in the kidneys and eyes and may also affect other organs.
D-bifunctional protein deficiency/ pseudo-Zellweger syndrome. https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency As the condition gets worse, affected children develop loss of vision. HSD17B4 gene mutations that cause D-bifunctional protein deficiency can affect one or both of the protein's functions; however, this distinction does not seem to affect the severity or features of the disorder. Impairment of one or both of the protein's enzymatic activities prevents the D-bifunctional protein from breaking down fatty acids efficiently. As a result, these fatty acids accumulate in the body. It is unclear how fatty acid accumulation leads to the specific neurological and non-neurological features of D-bifunctional protein deficiency. However, the accumulation may result in abnormal development of the brain and the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Destruction of myelin leads to a loss of myelin-containing tissue (white matter) in the brain and spinal cord; loss of white matter is described as leukodystrophy. Abnormal brain development and leukodystrophy likely underlie the neurological abnormalities that occur in D-bifunctional protein deficiency.
Dandy-Walker malformation https://ghr.nlm.nih.gov/condition/dandy-walker-malformation While rare, vision problems can be feature of this condition. Dandy-Walker malformation most often occurs in people with trisomy 18 (an extra copy of chromosome 18), but can also occur in people with trisomy 13, trisomy 21, or trisomy 9. This condition can also be associated with missing (deletions) or copied (duplications) pieces of certain chromosomes. Dandy-Walker malformation can also be a feature of genetic syndromes that are caused by mutations in specific genes. However, the brain malformations associated with Dandy-Walker malformation often occur as an isolated feature (not associated with other health problems), and in these cases the cause is frequently unknown. Research suggests that Dandy-Walker malformation could be caused by environmental factors that affect early development before birth. For example, exposure of the fetus to substances that cause birth defects (teratogens) may be involved in the development of this condition. In addition, a mother with diabetes is more likely than a healthy mother to have a child with Dandy-Walker malformation.
Deafness and myopia syndrome https://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome Affected individuals have severe nearsightedness (high myopia). These individuals are able to see nearby objects clearly, but objects that are farther away appear blurry. The myopia is usually diagnosed by early childhood. SLITRK6 gene mutations that cause deafness and myopia syndrome result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane. As a result, the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth, resulting in the hearing loss and nearsightedness that occur in deafness and myopia syndrome.
Deafness-dystonia-optic neuronopathy syndrome https://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome Characterized by impaired vision. Individuals with DDON syndrome have normal vision during childhood, but they may begin to develop an increased sensitivity to light (photophobia) or other vision problems during their teens. These people often have a slowly progressive reduction in the sharpness of vision (visual acuity) and become legally blind in mid-adulthood. Most mutations in the TIMM8A gene result in the absence of functional TIMM8A protein inside the mitochondria, which prevents the formation of the TIMM8A/TIMM13 complex. Researchers believe that the lack of this complex leads to abnormal protein transport, although it is unclear how abnormal protein transport affects the function of the mitochondria and causes the signs and symptoms of DDON syndrome.
Dent disease type 2 https://ghr.nlm.nih.gov/condition/dent-disease cataracts Mutations in the CLCN5 or OCRL gene disrupt the reabsorption function of the proximal tubules, which leads to the progressive kidney problems found in people with Dent disease. OCRL gene is active (expressed) throughout the body, it is unclear why Dent disease 2 primarily affects the kidneys and, to a lesser extent, the brain, eyes, and other tissues. The genetic cause of CDA type III has not been identified. It likely results from mutations in a gene located on the long arm of chromosome 15 at a position designated 15q22. Researchers continue to search for the specific gene associated with this form of the condition.
Diamond-Blackfan anemia https://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia Other features of Diamond-Blackfan anemia may include eye problems such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), or eyes that do not look in the same direction (strabismus). Diamond-Blackfan anemia can be caused by mutations in the RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 genes.
Dilated cardiomyopathy with ataxia syndrome https://ghr.nlm.nih.gov/condition/dilated-cardiomyopathy-with-ataxia-syndrome Other common features of DCMA syndrome include degeneration of nerve cells that carry visual information from the eyes to the brain (optic nerve atrophy), which can lead to vision loss. The DNAJC19 gene mutations that cause DCMA syndrome lead to the production of an abnormally shortened protein that likely has impaired function. Researchers speculate that a lack of functional DNAJC19 protein alters the transport of other proteins into and out of the mitochondria. When too many or too few proteins move in and out of the mitochondria, energy production and mitochondrial survival can be reduced. Tissues that have high energy demands, such as the heart and the brain, are especially susceptible to decreases in cellular energy production. It is likely that this loss of cellular energy damages these and other tissues, leading to heart problems, movement difficulties, and other features of DCMA syndrome.
Distal 18q deletion syndrome https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome Eye movement disorders and other vision problems disorder. Distal 18q deletion syndrome is caused by a deletion of genetic material from one copy of chromosome 18 anywhere between a region called 18q21 and the end of the chromosome. The size of the deletion varies among affected individuals. The signs and symptoms of distal 18q deletion syndrome are thought to be related to the loss of multiple genes (TCF4, TSHZ1) , some of which have not been identified, from this part of chromosome 18. Researchers are working to determine how the loss of specific genes in this region contributes to the various features of this disorder.
Donnai-Barrow syndrome https://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome In addition, they often experience vision problems, including extreme nearsightedness (high myopia), detachment or deterioration of the light-sensitive tissue in the back of the eye (the retina), and progressive vision loss. Some have a gap or split in the colored part of the eye (iris coloboma). LRP2 gene mutations that cause Donnai-Barrow syndrome are believed to result in the absence of functional megalin protein. The lack of functional megalin in the renal tubules causes megalin's various ligands to be excreted in the urine rather than being absorbed back into the bloodstream. The features of Donnai-Barrow syndrome are probably caused by the inability of megalin to help absorb these ligands, disruption of biochemical signaling pathways, or other effects of the nonfunctional megalin protein. However, it is unclear how these abnormalities result in the specific signs and symptoms of the disorder.
Dopamine beta-hydroxylase deficiency https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency Individuals with dopamine β-hydroxylase deficiency typically experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision DBH gene mutations result in the production of a nonfunctional dopamine β-hydroxylase enzyme. People who lack functional dopamine β-hydroxylase cannot convert dopamine to norepinephrine, which leads to a shortage of norepinephrine in the body. The lack of norepinephrine causes difficulty with regulating blood pressure and other autonomic nervous system problems seen in dopamine β-hydroxylase deficiency.
Down syndrome https://ghr.nlm.nih.gov/condition/down-syndrome Individuals with Down syndrome also have an increased risk of hearing and vision problems. Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies.
Dyskeratosis congenita https://ghr.nlm.nih.gov/condition/dyskeratosis-congenita Another severe variant called Revesz syndrome involves abnormalities in the light-sensitive tissue at the back of the eye (retina) in addition to the other symptoms of dyskeratosis congenita. Mutations in the following genes :CTC1, DKC1, NHP2, NOP10, RTEL1, TERC, TERT, TINF2, WRAP5I. N about half of people with dyskeratosis congenita, the disorder is caused by mutations in the TERT, TERC, DKC1, or TINF2 gene. TERT, TERC, DKC1, or TINF2 gene mutations result in dysfunction of the telomerase or shelterin complexes, leading to impaired maintenance of telomeres and reduced telomere length. Cells that divide rapidly are especially vulnerable to the effects of shortened telomeres. As a result, people with dyskeratosis congenita may experience a variety of problems affecting quickly dividing cells in the body such as cells of the nail beds, hair follicles, skin, lining of the mouth (oral mucosa), and bone marrow.
Dystrophic epidermolysis bullosa https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa Severe cases of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems.As the blisters heal, they result in severe scarring. Additional complications of progressive scarring can include fusion of the fingers and toes, loss of fingernails and toenails, joint deformities (contractures) that restrict movement, and eye inflammation leading to vision loss. Mutations in the COL7A1 gene cause all three major forms of dystrophic epidermolysis bullosa. COL7A1 mutations alter the structure or disrupt the production of type VII collagen, which impairs its ability to help connect the epidermis to the dermis. When type VII collagen is abnormal or missing, friction or other minor trauma can cause the two skin layers to separate. This separation leads to the formation of blisters, which can cause extensive scarring as they heal. Researchers are working to determine how abnormalities of type VII collagen also underlie the increased risk of skin cancer seen in the severe form of dystrophic epidermolysis bullosa.
Early-onset glaucoma https://ghr.nlm.nih.gov/condition/early-onset-glaucoma Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40. Approximately 10 percent to 33 percent of people with juvenile open-angle glaucoma have mutations in the MYOC gene. Mutations may alter the protein in such a way that the complex cannot be formed. Defective myocilin that is not incorporated into functional complexes may accumulate in the trabecular meshwork and ciliary body. The excess protein may prevent sufficient flow of fluid from the eye, resulting in increased intraocular pressure and causing the signs and symptoms of early-onset glaucoma. Between 20 percent and 40 percent of people with primary congenital glaucoma have mutations in the CYP1B1 gene. It is not well understood how defects in the CYP1B1 protein cause signs and symptoms of glaucoma. Recent studies suggest that the defects may interfere with the early development of the trabecular meshwork. In the clear covering of the eye (the cornea), the CYP1B1 protein may also be involved in a process that regulates the secretion of fluid inside the eye. If this fluid is produced in excess, the high intraocular pressure characteristic of glaucoma may develop.
Encephalocraniocutaneous lipomatosis https://ghr.nlm.nih.gov/condition/encephalocraniocutaneous-lipomatosis The most common eye abnormality in ECCL is a noncancerous growth called a choristoma. These growths can be present in one or both eyes and may affect vision. The FGFR1 gene mutations that cause ECCL arise randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and others will not. This mixture of cells with and without a genetic mutation is known as mosaicism. In cells with an altered FGFR1 gene, the resulting FGFR1 protein is overactive, triggering abnormal signaling that affects cell growth and division. Researchers are studying how these changes in signaling lead to the growth of noncancerous tumors and the other features of ECCL.
Episodic ataxia https://ghr.nlm.nih.gov/condition/episodic-ataxia Between episodes, some affected individuals continue to experience ataxia, which may worsen over time, as well as involuntary eye movements called nystagmus. Episodic ataxia can be caused by mutations in several genes that play important roles in the nervous system. Three of these genes, KCNA1, CACNA1A, and CACNB4, provide instructions for making proteins that are involved in the transport of charged atoms (ions) across cell membranes. Mutations in the KCNA1, CACNA1A, and CACNB4 genes are responsible for episodic ataxia types 1, 2, and 5, respectively. Mutations in the SLC1A3 gene have been found to cause episodic ataxia type 6.
Facioscapulohumeral muscular dystrophy https://ghr.nlm.nih.gov/condition/facioscapulohumeral-muscular-dystrophy Additional signs and symptoms of facioscapulohumeral muscular dystrophy can include abnormalities involving the light-sensitive tissue at the back of the eye (the retina). These signs are often not noticeable and may be discovered only during medical testing. When the D4Z4 region is hypomethylated, with a shortage of attached methyl groups. In FSHD1, hypomethylation occurs because the D4Z4 region is abnormally shortened (contracted), containing between 1 and 10 repeats instead of the usual 11 to 100 repeats. In FSHD2, hypomethylation most often results from mutations in a gene called SMCHD1, which provides instructions for making a protein that normally hypermethylates the D4Z4 region. However, about 20 percent of people with FSHD2 do not have an identified mutation in the SMCHD1 gene, and the cause of the hypomethylation is unknown.Hypermethylation of the D4Z4 region normally keeps a gene called DUX4 silenced in most adult cells and tissues. The DUX4 gene is located in the segment of the D4Z4 region closest to the end of chromosome 4. In people with facioscapulohumeral muscular dystrophy, hypomethylation of the D4Z4 region prevents the DUX4 gene from being silenced in cells and tissues where it is usually turned off. Although little is known about the function of the DUX4 gene when it is active, researchers believe that it influences the activity of other genes, particularly in muscle cells. It is unknown how abnormal activity of the DUX4 gene damages or destroys these cells, leading to progressive muscle weakness and atrophy.
Familial cylindromatosis https://ghr.nlm.nih.gov/condition/familial-cylindromatosis The tumors may also get in the way of the eyes and affect vision When both copies of the CYLD gene are mutated in a particular cell, that cell cannot produce any functional CYLD protein. The loss of this protein allows the cell to grow and divide in an uncontrolled way to form a tumor. In people with familial cylindromatosis, a second CYLD mutation typically occurs in multiple cells over an affected person's lifetime. The loss of CYLD protein in these cells leads to the growth of skin appendage tumors.
Familial dysautonomia https://ghr.nlm.nih.gov/condition/familial-dysautonomia They may experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause blurred vision. Other problems that may appear in adolescence or early adulthood include lung damage due to repeated infections, impaired kidney function, and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry information from the eyes to the brain. Nearly all individuals with familial dysautonomia have two copies of the same ELP1 gene mutation in each cell. This mutation can disrupt how information in the ELP1 gene is pieced together to make a blueprint for the production of ELP1 protein. As a result of this error, a reduced amount of normal ELP1 protein is produced. This mutation behaves inconsistently, however. Some cells produce near normal amounts of the protein, and other cells—particularly brain cells—have very little of the protein. Critical activities in brain cells are probably disrupted by reduced amounts or the absence of ELP1 protein, leading to the signs and symptoms of familial dysautonomia.
Familial exudative vitreoretinopathy https://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy A hereditary disorder that can cause progressive vision loss. In many affected individuals, the retinal abnormalities never cause any vision problems. In others, a reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). This retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil. Blood vessels prevents from forming at the edges of the retina, which reduces the blood supply to this tissue. Mutations in the FZD4, LRP5, or NDP gene disrupt chemical signaling during early development, which interferes with the formation of blood vessels at the edges of the retina. The resulting abnormal blood supply to this tissue leads to retinal damage and vision loss in some people with familial exudative vitreoretinopathy.
Familial hemiplegic migraine https://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine In some types of migraine, including familial hemiplegic migraine, a pattern of neurological symptoms called an aura precedes the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. About 20 percent of people with this condition develop mild but permanent difficulty coordinating movements (ataxia), which may worsen with time, and rapid, involuntary eye movements called nystagmus. Mutations in the CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been found to cause familial hemiplegic migraine. There is little evidence that mutations in the CACNA1A, ATP1A2, SCN1A, and PRRT2 genes play a role in common migraines, which affect millions of people each year. Researchers are searching for additional genetic changes that may underlie rare types of migraine, such as familial hemiplegic migraine, as well as the more common forms of migraine.
Familial hemophagocytic lymphohistiocytosis https://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis The brain may also be affected in familial hemophagocytic lymphohistiocytosis. As a result, affected individuals may experience blindness, Familial hemophagocytic lymphohistiocytosis may be caused by mutations in any of several genes (PRF1, STX11, STXBP2, UNC13). These genes provide instructions for making proteins that help destroy or deactivate lymphocytes that are no longer needed. By controlling the number of activated lymphocytes, these genes help regulate immune system function.
Familial isolated pituitary adenoma https://ghr.nlm.nih.gov/condition/familial-isolated-pituitary-adenoma Familial isolated pituitary adenoma (FIPA) is an inherited condition characterized by development of a noncancerous tumor in the pituitary gland (called a pituitary adenoma).Prolactinomas are the most common tumors in FIPA. Large prolactinomas can press on nearby tissues such as the nerves that carry information from the eyes to the brain (the optic nerves), causing problems with vision. AIP gene mutations account for approximately 15 to 25 percent of cases of FIPA. Somatotropinomas are the most common type of tumor in these individuals. The tumors usually occur at a younger age, often in childhood, and are larger than FIPA tumors not caused by AIP gene mutations. The other genetic causes of FIPA are unknown.
Fatty acid hydroxylase-associated neurodegeneration https://ghr.nlm.nih.gov/condition/fatty-acid-hydroxylase-associated-neurodegeneration Characterized by problems with vision that begin during childhood or adolescence. People with FAHN often develop vision problems, which occur due to deterioration (atrophy) of the nerves that carry information from the eyes to the brain (the optic nerves) and difficulties with the muscles that control eye movement. Affected individuals may have a loss of sharp vision (reduced visual acuity), decreased field of vision, impaired color perception, eyes that do not look in the same direction (strabismus), rapid involuntary eye movements (nystagmus), or difficulty moving the eyes intentionally (supranuclear gaze palsy). The FA2H gene mutations that cause FAHN reduce or eliminate the function of the fatty acid 2-hydroxylase enzyme. Reduction of this enzyme's function may result in abnormal myelin that is prone to deterioration (demyelination), leading to a loss of white matter (leukodystrophy). Leukodystrophy is likely involved in the development of the movement problems and other neurological abnormalities that occur in FAHN. Iron accumulation in the brain is probably also involved, although it is unclear how FA2H gene mutations lead to the buildup of iron.
Fibrochondrogenesis https://ghr.nlm.nih.gov/condition/fibrochondrogenesis Vision problems, including severe nearsightedness (high myopia) and clouding of the lens of the eye (cataract), are common in those who survive infancy. Fibrochondrogenesis can result from mutations in the COL11A1 or COL11A2 gene. When the condition is caused by COL11A1 gene mutations, it is designated as type 1; when it is caused by COL11A2 gene mutations, it is designated as type 2. Mutations in the COL11A1 or COL11A2 gene impair the assembly of type XI collagen, in most cases leading to the production of abnormal collagen molecules. The defective collagen weakens connective tissues, impairing the formation of bones throughout the skeleton and causing changes in the eye and inner ear that lead to vision and hearing problems.
Fish-eye disease https://ghr.nlm.nih.gov/condition/fish-eye-disease A disorder that causes the corneas to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As fish-eye disease progresses, the corneal cloudiness worsens and can lead to severely impaired vision. LCAT gene mutations that cause fish-eye disease impair alpha-LCAT activity, reducing the enzyme's ability to attach cholesterol to HDL. Impairment of this mechanism for reducing cholesterol in the body leads to cholesterol-containing opacities in the corneas. It is not known why the cholesterol deposits affect only the corneas in this disorder. Mutations that affect both alpha-LCAT activity and beta-LCAT activity lead to a related disorder called complete LCAT deficiency, which involves corneal opacities in combination with features affecting other parts of the body.
Focal dermal hypoplasia https://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia Eyes abnormalities include small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness. incomplete development of the light-sensitive tissue at the back of the eye (retina) or the nerve that relays visual information from the eye to the brain (optic nerve). Mutations in the PORCN gene appear to prevent the production of any functional PORCN protein. Researchers believe Wnt proteins cannot be released from the cell without the PORCN protein. When Wnt proteins are unable to leave the cell, they cannot participate in the chemical signaling pathways that are critical for normal development. The various signs and symptoms of focal dermal hypoplasia are likely due to abnormal Wnt signaling during early development.
Fraser syndrome https://ghr.nlm.nih.gov/condition/fraser-syndrome Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos). Both eyes are usually completely covered by skin, but in some cases, only one eye is covered or one or both eyes are partially covered. In cryptophthalmos, the eyes can also be malformed; for example, the eyeballs may be fused to the skin covering them, or they may be small (microphthalmia) or missing (anophthalmia). Eye abnormalities typically lead to impairment or loss of vision in people with Fraser syndrome. Affected individuals can have other problems related to abnormal eye development, including missing eyebrows or eyelashes or a patch of hair extending from the side hairline to the eyebrow. Mutations in the FRAS1, FREM2, or GRIP1 gene can cause Fraser syndrome. FRAS1 gene mutations are the most common cause, accounting for about half of cases of Fraser syndrome. FREM2 and GRIP1 gene mutations are each found in a small percentage of cases.
Friedreich ataxia https://ghr.nlm.nih.gov/condition/friedreich-ataxia Other features of this condition include the gradual loss of strength and sensation in the arms and legs; muscle stiffness (spasticity); and impaired speech, hearing, and vision. Mutations in the FXN gene cause Friedreich ataxia. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. Normally, this segment is repeated 5 to 33 times within the FXN gene. In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear, how severe they are, and how quickly they progress. People with GAA segments repeated fewer than 300 times tend to have a later appearance of symptoms (after age 25) than those with larger GAA trinucleotide repeats. The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia.
Fuchs endothelial dystrophy https://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy A condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights. Fuchs endothelial dystrophy specifically affects the front surface of the eye called the cornea. Deposits called guttae, which are detectable during an eye exam, form in the middle of the cornea and eventually spread. These guttae contribute to the loss of cells in the cornea, leading to vision problems. Tiny blisters may develop on the cornea, which can burst and cause eye pain. The genetics of Fuchs endothelial dystrophy are unclear. Researchers have identified regions of a few chromosomes and several genes (COL8A2, SLC4A11, TCF4, ZEB )that they think may play a role in the development of Fuchs endothelial dystrophy, but many of these associations need to be further tested.
Fukuyama congenital muscular dystrophy https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy An inherited condition that predominantly affects the . The most common mutation in the FKTN gene reduces the amount of fukutin produced within cells. A shortage of fukutin likely prevents the normal modification of α-dystroglycan, which disrupts that protein's normal function. Without functional α-dystroglycan to stabilize muscle cells, muscle fibers become damaged as they repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to progressive weakness and atrophy of the skeletal muscles.
Fundus albipunctatus https://ghr.nlm.nih.gov/condition/fundus-albipunctatus Impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). While fundus albipunctatus typically does not worsen (progress) over time, some individuals with the condition develop other eye conditions, such as breakdown of the central region of the retina known as the macula (macular dystrophy) with loss of specialized light receptor cells called cones, which can affect vision in bright light. Primarily caused by mutations in the RDH5 gene. RDH5 gene mutations are thought to reduce or eliminate the function of the 11-cis retinol dehydrogenase 5 enzyme, which results in a shortage of 11-cis retinal. Without this important molecule, electrical signals integral for vision are not stimulated, and vision is impaired. For vision in low-light conditions, the eyes primarily use 11-cis retinol dehydrogenase 5 to generate 11-cis retinal, which is why a shortage of this enzyme's function impairs night vision.
Galactosemia https://ghr.nlm.nih.gov/condition/galactosemia Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, Mutations in the GALT, GALK1, and GALE genes cause galactosemia.
Galactosialidosis https://ghr.nlm.nih.gov/condition/galactosialidosis The juvenile/adult form of galactosialidosis has signs and symptoms typically also have vision loss, CTSA mutations interfere with the normal function of cathepsin A. Most mutations disrupt the protein structure of cathepsin A, impairing its ability to form complexes with neuraminidase 1, beta-galactosidase, and elastin binding protein. As a result, these other enzymes are not functional, or they break down prematurely.
Gillespie syndrome https://ghr.nlm.nih.gov/condition/gillespie-syndrome A disorder that involves eye abnormalities. Gillespie syndrome is characterized by aniridia, which is the absence of the colored part of the eye (the iris). In most affected individuals, only part of the iris is missing (partial aniridia) in both eyes, but in some affected individuals, partial aniridia affects only one eye, or the entire iris is missing (complete aniridia) in one or both eyes. The absence of all or part of the iris can cause blurry vision (reduced visual acuity) and increased sensitivity to light (photophobia). Rapid, involuntary eye movements (nystagmus) can also occur in Gillespie syndrome. Mutations in the PAX6 gene result in the absence of the PAX6 protein or production of a nonfunctional PAX6 protein that is unable to bind to DNA and regulate the activity of other genes. This lack of functional protein disrupts embryonic development, especially the development of the eyes and brain, leading to the signs and symptoms of Gillespie syndrome. Most people with Gillespie syndrome do not have mutations in the PAX6 gene. In these affected individuals, the cause of the disorder is unknown.
GM1 gangliosidosis https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis Clouding of the clear outer covering of the eye (the cornea). Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Mutations in the GLB1 gene reduce or eliminate the activity of β-galactosidase. Without enough functional β-galactosidase, GM1 ganglioside cannot be broken down when it is no longer needed. As a result, this substance accumulates to toxic levels in many tissues and organs, particularly in the brain. Progressive damage caused by the buildup of GM1 ganglioside leads to the destruction of nerve cells in the brain, causing many of the signs and symptoms of GM1 gangliosidosis. In general, the severity of GM1 gangliosidosis is related to the level of β-galactosidase activity. Individuals with higher enzyme activity levels usually have milder signs and symptoms than those with lower activity levels because they have less accumulation of GM1 ganglioside within the body.
GM2-gangliosidosis, AB variant https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant As the disease progresses, children with the AB variant experience vision loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Mutations in the GM2A gene disrupt the activity of the GM2 ganglioside activator, which prevents beta-hexosaminidase A from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms of the AB variant.
GM3 synthase deficiency https://ghr.nlm.nih.gov/condition/gm3-synthase-deficiency Although affected infants can likely see and hear at birth, vision and hearing become impaired as the disease worsens. ST3GAL5 gene mutations prevent the production of any functional GM3 synthase. Without this enzyme, cells cannot produce gangliosides normally. It is unclear how a loss of this enzyme leads to the signs and symptoms of GM3 synthase deficiency.
Graves disease https://ghr.nlm.nih.gov/condition/graves-disease Between 25 and 50 percent of people with Graves disease have eye abnormalities, which are known as Graves ophthalmopathy. These eye problems can include swelling and inflammation, redness, dryness, puffy eyelids, and a gritty sensation like having sand or dirt in the eyes. Some people develop bulging of the eyes caused by inflammation of tissues behind the eyeball and "pulling back" (retraction) of the eyelids. Rarely, affected individuals have more serious eye problems, such as pain, double vision, and pinching (compression) of the optic nerve connecting the eye and the brain, which can cause vision loss. Variations in many genes have been studied as possible risk factors for Graves disease. Some of these genes (CD40, CTLA4, HLA-DRB1, IL2RA, PTPN22, SCGB3A2, TG, TSHR are part of a family called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Other genes that have been associated with Graves disease help regulate the immune system or are involved in normal thyroid function. Most of the genetic variations that have been discovered are thought to have a small impact on a person's overall risk of developing this condition.
Griscelli syndrome type 1 https://ghr.nlm.nih.gov/condition/griscelli-syndrome Griscelli syndrome type 1 involves severe problems with brain function in addition to the.... Affected individuals typically have eye and vision abnormalities The three types of Griscelli syndrome are caused by mutations in different genes: Type 1 results from mutations in the MYO5A gene, type 2 is caused by mutations in the RAB27A gene, and type 3 results from mutations in the MLPH gene.
Gyrate atrophy of the choroid and retina https://ghr.nlm.nih.gov/condition/gyrate-atrophy-of-the-choroid-and-retina Ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50. Mutations in the OAT gene
Hajdu-Cheney syndrome https://ghr.nlm.nih.gov/condition/hajdu-cheney-syndrome The most serious complications of Hajdu-Cheney syndrome, which occur in about half of all affected individuals, are abnormalities known as platybasia and basilar invagination. These abnormalities can lead to severe neurological problems, including abnormal vision Mutations in a specific area near the end of the NOTCH2 gene are associated with Hajdu-Cheney syndrome. These mutations lead to a version of the Notch2 receptor that cannot be broken down normally. As a result, the receptor continues to be active even after signaling should stop. Researchers are unsure how excessive Notch2 signaling is related to the varied features of Hajdu-Cheney syndrome.
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome https://ghr.nlm.nih.gov/condition/hereditary-angiopathy-with-nephropathy-aneurys Individuals with HANAC syndrome also experience a variety of eye problems. All individuals with this condition have arteries that twist and turn abnormally within the light-sensitive tissue at the back of the eyes (arterial retinal tortuosity). This blood vessel abnormality can cause episodes of bleeding within the eyes following any minor trauma to the eyes, leading to temporary vision loss. Other eye problems associated with HANAC syndrome include a clouding of the lens of the eye (cataract) and an abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly is associated with various other eye abnormalities, including underdevelopment and eventual tearing of the colored part of the eye (iris), and a pupil that is not in the center of the eye. The COL4A1 gene mutations that cause HANAC syndrome result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround. In people with HANAC syndrome, the vasculature and other tissues within the kidneys, brain, muscles, eyes, and throughout the body weaken.
Hereditary cerebral amyloid angiopathy https://ghr.nlm.nih.gov/condition/hereditary-cerebral-amyloid-angiopathy Two types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized by dementia and movement problems. People with the Danish type may also have clouding of the lens of the eyes (cataracts) or deafness. Mutations in the APP gene are the most common cause of hereditary cerebral amyloid angiopathy. APP gene mutations cause the Dutch, Italian, Arctic, Iowa, Flemish, and Piedmont types of this condition. Mutations in the CST3 gene cause the Icelandic type. Familial British and Danish dementia are caused by mutations in the ITM2B gene.
Hermansky-Pudlak syndrome https://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome Abnormally light coloring (pigmentation) of the eyes. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism Mutations in the genes (AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6) associated with Hermansky-Pudlak syndrome prevent the formation of LROs or impair the functioning of these cell structures. In general, mutations in genes that involve the same protein complex cause similar signs and symptoms. People with this syndrome have oculocutaneous albinism because the LROs within melanocytes cannot produce and distribute the substance that gives skin, hair, and eyes their color (melanin). Mutations in the HPS1 gene cause approximately 75 percent of the Hermansky-Pudlak syndrome cases from Puerto Rico. About 45 percent of affected individuals from other populations have mutations in the HPS1 gene. Mutations in the HPS3 gene are found in about 25 percent of affected people from Puerto Rico and in approximately 20 percent of affected individuals from other areas. The other genes associated with Hermansky-Pudlak syndrome each account for a small percentage of cases of this condition.
Homocystinuria https://ghr.nlm.nih.gov/condition/homocystinuria The most common form of homocystinuria is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, Mutations in the CBS, MTHFR, MTR, MTRR, and MMADHC genes cause homocystinuria.Mutations in the CBS gene cause the most common form of homocystinuria. Rarely, homocystinuria can be caused by mutations in several other genes. The enzymes made by the MTHFR, MTR, MTRR, and MMADHC genes play roles in converting homocysteine to methionine. Mutations in any of these genes prevent the enzymes from functioning properly, which leads to a buildup of homocysteine in the body.
Horizontal gaze palsy with progressive scoliosis https://ghr.nlm.nih.gov/condition/horizontal-gaze-palsy-with-progressive-scoliosis#genes A disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally). As a result, affected individuals must turn their head instead of moving their eyes to track moving objects. Up-and-down (vertical) eye movements are typically normal. It tends to be moderate to severe and worsens over time. Mutations in the ROBO3 gene. The ROBO3 protein plays a critical role in ensuring that motor and sensory nerve pathways cross over in the brainstem. In people with HGPPS, these pathways do not cross over, but stay on the same side of the body. Researchers believe that this miswiring in the brainstem is the underlying cause of the eye movement abnormalities associated with the disorder. The cause of progressive scoliosis in HGPPS is unclear. Researchers are working to determine why the effects of ROBO3 mutations appear to be limited to horizontal eye movement and scoliosis.
Hyperferritinemia-cataract syndrome https://ghr.nlm.nih.gov/condition/hyperferritinemia-cataract-syndrome An excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts usually develop in infancy, rather than after age 60 as typically occurs in the general population. Cataracts that are not removed surgically cause progressive dimming and blurriness of vision because the clouded lenses reduce and distort incoming light. Mutations that cause hyperferritinemia-cataract syndrome are found in a segment of the FTL gene called the iron responsive element (IRE). The IRE normally can attach (bind) to a protein called the iron regulatory protein (IRP). When this binding occurs, the activity (expression) of the FTL gene is stopped to prevent too much ferritin light chain from being produced. This normally occurs when iron levels are low, because under those circumstances less ferritin is needed to store the iron. Mutations in the IRE segment of the FTL gene prevent it from binding with IRP, interfering with the mechanism by which ferritin production is matched to iron levels and resulting in excess ferritin being formed.
Hypomyelination and congenital cataract https://ghr.nlm.nih.gov/condition/hypomyelination-and-congenital-cataract Additionally, people with this disorder are typically born with a clouding of the lens (cataract) in both eyes. Mutations in the FAM126A gene cause hypomyelination and congenital cataract.
Incontinentia pigmenti https://ghr.nlm.nih.gov/condition/incontinentia-pigmenti#genes Other signs and symptoms of incontinentia pigmenti can include hair loss (alopecia) affecting the scalp and other parts of the body, dental abnormalities (such as small teeth or few teeth), eye abnormalities that can lead to vision loss, About 80 percent of affected individuals have a mutation that deletes some genetic material from the IKBKG gene. This deletion probably leads to the production of an abnormally small, nonfunctional version of the IKBKG protein. Other people with incontinentia pigmenti have mutations that prevent the production of any IKBKG protein. Without this protein, nuclear factor-kappa-B is not regulated properly, and cells are more sensitive to signals that trigger them to self-destruct. Researchers believe that this abnormal cell death leads to the signs and symptoms of incontinentia pigmenti.
Infantile neuroaxonal dystrophy Rapid, involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and vision loss due to deterioration (atrophy) of the nerve that carries information from the eye to the brain (the optic nerve) often occur Mutations in the PLA2G6 gene impair the function of the PLA2 group VI enzyme, which may disrupt cell membrane maintenance and contribute to the development of spheroid bodies in the nerve axons. Although it is unknown how changes in this enzyme's function lead to the signs and symptoms of infantile neuroaxonal dystrophy, phospholipid metabolism problems have been seen in both this disorder and a similar disorder called pantothenate kinase-associated neurodegeneration. These disorders, as well as the more common Alzheimer disease and Parkinson disease, also are associated with changes in brain iron metabolism. Researchers are studying the links between phospholipid defects, brain iron, and damage to nerve cells, but have not determined how the iron accumulation that occurs in some individuals with infantile neuroaxonal dystrophy may contribute to the features of this disorder.
Infantile-onset spinocerebellar ataxia https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia IOSCA also leads to vision and hearing problems that begin by about age 7. Children with this disorder develop weakness in the muscles that control eye movement (ophthalmoplegia). In their teenage years they experience degeneration of the nerves that carry information from the eyes to the brain (optic atrophy), which can result in vision loss. The TWNK gene mutations that cause IOSCA interfere with the function of the Twinkle protein and result in reduced quantities of mtDNA (mtDNA depletion). Impaired mitochondrial function in the nervous system, muscles, and other tissues that require a large amount of energy leads to neurological dysfunction and the other problems associated with IOSCA.
Isolated Duane retraction syndrome https://ghr.nlm.nih.gov/condition/isolated-duane-retraction-syndrome A disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Most commonly, only one eye is affected. About 10 percent of people with isolated Duane retraction syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye. In most people with isolated Duane retraction syndrome, the cause of the condition is unknown. However, researchers have identified mutations in one gene, CHN1, that cause the disorder in a small number of families. The CHN1 gene provides instructions for making a protein that is involved in the early development of the nervous system. Specifically, the protein appears to be critical for the formation of nerves that control several of the muscles surrounding the eyes (extraocular muscles). Mutations in the CHN1 gene disrupt the normal development of these nerves and the extraocular muscles needed for side-to-side eye movement. Abnormal function of these muscles leads to restricted eye movement and related problems with vision.
Isolated ectopia lentis https://ghr.nlm.nih.gov/condition/isolated-ectopia-lentis The lens in one or both eyes is not centrally positioned as it should be but is off-center (displaced). Affected individuals often have nearsightedness (myopia) and can have an irregular curvature of the cornea, which causes blurred vision (astigmatism). They may also develop clouding of the lenses (cataracts) or increased pressure in the eyes (glaucoma) at an earlier age than other adults. In a small number of people with isolated ectopia lentis, retinal detachment occurs, which can lead to further vision problems and possible blindness. Ectopia lentis is a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome. The displaced lens cannot focus light correctly, contributing to the vision problems that are common in people with isolated ectopia lentis. Mutations in the FBN1 or ADAMTSL4 gene impair protein function and lead to a decrease in microfibril formation or result in the formation of impaired microfibrils. Without functional microfibrils to anchor the lens in its central position at the front of the eye, the lens becomes displaced. The displaced lens cannot focus light correctly, contributing to the vision problems that are common in people with isolated ectopia lentis.
Joubert syndrome https://ghr.nlm.nih.gov/condition/joubert-syndrome Joubert syndrome can include a broad range of additional signs and symptoms. The condition is sometimes associated with other eye abnormalities (such as retinal dystrophy, which can cause vision loss, and coloboma, which is a gap or split in a structure of the eye), Joubert syndrome can be caused by mutations in more than 30 genes (AHI1, ARL13B, B9D1, B9D2, C2CD3, C5orf42, CC2D2A, CEP41, CEP104, CEP120, CEP290, CSPP1, IFT172, INPP5E, KIAA0556, KIAA0586, KIF, MKS, NPHP, OFD1, PDE6D, POC1B, RPGRIP1, TCTN, TCTN, TCTN, TMEM6, TMEM10, TMEM13, TMEM21, TMEM23, TMEM23, TTC21B, ZNF42.) Mutations in the genes associated with Joubert syndrome lead to problems with the structure and function of primary cilia. Defects in these cell structures can disrupt important chemical signaling pathways during development. Although researchers believe that defective primary cilia are responsible for most of the features of these disorders, it is not completely understood how they lead to specific developmental abnormalities. Mutations in the genes known to be associated with Joubert syndrome account for about 60 to 90 percent of all cases of this condition. In the remaining cases, the genetic cause is unknown.
Kaufman oculocerebrofacial syndrome https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome Eye abnormalities and their effect on vision vary among people with Kaufman oculocerebrofacial syndrome. Some people with this disorder have abnormally small or poorly developed eyes (microphthalmia); microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved; missing pieces of tissue in structures that form the eye (coloboma); or underdevelopment of the nerves that carry signals between the eyes and the brain (optic nerve hypoplasia). Eyes that do not look in the same direction (strabismus), nearsightedness (myopia) or farsightedness (hyperopia), or an inward turning of the lower eyelid (entropion) can also occur. Kaufman oculocerebrofacial syndrome is caused by mutations in the UBE3B gene. The UBE3B gene mutations that cause Kaufman oculocerebrofacial syndrome are thought to result in an abnormal UBE3B protein that cannot function properly or that is unstable and is rapidly broken down. Loss of this protein's function likely prevents cells from eliminating certain unnecessary proteins, resulting in problems with development and function of the brain, eyes, and other parts of the body.
Kearns-Sayre syndrome https://ghr.nlm.nih.gov/condition/kearns-sayre-syndrome A condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and causes drooping eyelids (ptosis). Affected individuals also have an eye condition called pigmentary retinopathy, which results from breakdown (degeneration) of the light-sensing tissue at the back of the eye (the retina) that gives it a speckled and streaked appearance. The retinopathy may cause loss of vision. The mtDNA deletions that cause Kearns-Sayre syndrome result in the loss of genes important for mitochondrial protein formation and oxidative phosphorylation. The most common deletion removes 4,997 nucleotides, which includes twelve mitochondrial genes. Deletions of mtDNA result in impairment of oxidative phosphorylation and a decrease in cellular energy production. Regardless of which genes are deleted, all steps of oxidative phosphorylation are affected. Researchers have not determined how these deletions lead to the specific signs and symptoms of Kearns-Sayre syndrome, although the features of the condition are probably related to a lack of cellular energy. It has been suggested that eyes are commonly affected by mitochondrial defects because they are especially dependent on mitochondria for energy.
Keratitis-ichthyosis-deafness syndrome https://ghr.nlm.nih.gov/condition/keratitis-ichthyosis-deafness-syndrome Characterized by eye problems. People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnormal blood vessel growth over the cornea (neovascularization), and scarring. Over time, affected individuals experience a loss of sharp vision (reduced visual acuity); in severe cases the keratitis can lead to blindness. The GJB2 gene mutations that cause KID syndrome change single protein building blocks (amino acids) in connexin 26. The mutations are thought to result in channels that constantly leak ions, which impairs the health of the cells and increases cell death. Death of cells in the skin and the inner ear may underlie the ichthyosis and deafness that occur in KID syndrome. It is unclear how GJB2 gene mutations affect the eye.
Keratoconus https://ghr.nlm.nih.gov/condition/keratoconus An eye condition that affects the shape of the cornea, which is the clear outer covering of the eye. In this condition, the cornea thins and bulges outward, eventually resembling a cone shape. These corneal abnormalities, which worsen over time, can lead to nearsightedness (myopia), blurred vision that cannot be improved with corrective lenses (irregular astigmatism), and vision loss. Other corneal changes typical of keratoconus that can be seen during an eye exam include iron deposits in the cornea that form a yellow-to-brownish ring, called the Fleischer ring, surrounding the colored part of the eye (iris). Affected individuals may also develop Vogt's striae, which are thin, vertical, white lines in the tissue at the back of the cornea. Keratoconus may affect only one eye at first, but eventually the corneas of both eyes become misshapen, although they might not be affected with the same severity. As keratoconus worsens, people with this condition can develop corneal scarring, often caused by exposure of the abnormally thin cornea to prolonged contact lens use or excessive eye rubbing. More than a dozen genes (CAST, COL4A3, COL4A4, COL5A1, DOCK9, FNDC3B, FOXO1, HGF, IL1A, IL1R, LOX, MIR184, RAB3GAP1, SLC4A11, TGFBI, VSX1, WNT10A, ZEB1 , ZNF46 )have been associated with keratoconus. These genes have varied functions. The most frequently associated genes play roles in eye development, the formation and structure of the cornea, the intricate lattice of proteins and other molecules that forms in the space between cells (extracellular matrix), an immune system response called inflammation, and the regulation of cell growth. It is thought that a disruption in one of these processes, in combination with an environmental trigger, may lead to the development of keratoconus.
Kindler syndrome https://ghr.nlm.nih.gov/condition/kindler-syndrome Kindler syndrome can also affect the moist lining (mucosae) of the eyes, causing these tissues to be very fragile and easily damaged. The moist tissues that line the eyelids and the white part of the eyes (the conjunctiva) can become inflamed (conjunctivitis), and damage to the clear outer covering of the eye (the cornea) can affect vision. Most mutations in the FERMT1 gene prevent the production of any functional kindlin-1. A lack of this protein disrupts many essential cell functions. For example, keratinocytes without kindlin-1 have an abnormal structure and cannot grow or divide normally. They are also less able to attach the epidermis to the underlying layer of skin (the dermis). These changes make the skin fragile and prone to blistering. Similarly, a lack of kindlin-1 in epithelial cells of the mucosae causes damage that makes these tissues extremely fragile.
Kniest dysplasia https://ghr.nlm.nih.gov/condition/kniest-dysplasia Severe nearsightedness (myopia) and other eye problems are common in Kniest dysplasia. Some eye problems, such as retinal detachment, can lead to blindness. Most mutations in the COL2A1 gene that cause Kniest dysplasia interfere with the assembly of type II collagen molecules. Abnormal collagen prevents bones and other connective tissues from developing properly, which leads to the signs and symptoms of Kniest dysplasia.
Knobloch syndrome https://ghr.nlm.nih.gov/condition/knobloch-syndrome Extreme nearsightedness (high myopia). In aaffected individuals have vitreoretinal degeneration, whiatn often leads to separation of the retina from the back of the eye (retinal detachment). Affected individuals may also have abnormalities in the central area of the retina, called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Due to abnormalities in the vitreous, retina, and macula, people with Knobloch syndrome often develop blindness in one or both eyes. Mutations in the COL18A1 gene lead to an abnormally short version of the genetic blueprint used to make the collagen XVIII protein. Although the process is unclear, the COL18A1 gene mutations result in the loss of collagen XVIII protein, which likely causes the signs and symptoms of Knobloch syndrome.
Krabbe disease https://ghr.nlm.nih.gov/condition/krabbe-disease Affected infants also experience vision loss. Less commonly, Krabbe disease begins in childhood, adolescence, or adulthood (late-onset forms). Vision problems and walking difficulties are the most common initial symptoms in these forms of the disorder, however, signs and symptoms vary considerably among affected individuals. Individuals with late-onset Krabbe disease may survive many years after the condition begins. GALC gene mutations severely reduce the activity of the galactosylceramidase enzyme. As a result, galactosylceramide and psychosine cannot be broken down. Excess galactosylceramide accumulates in certain cells, forming globoid cells. The accumulation of these galactolipids causes damage to myelin-forming cells, which impairs the formation of myelin and leads to demyelination in the nervous system.
Lafora progressive myoclonus epilepsy https://ghr.nlm.nih.gov/condition/lafora-progressive-myoclonus-epilepsy Affected individuals may also experience occipital seizures, which can cause temporary blindness and visual hallucinations. Lafora progressive myoclonus epilepsy can be caused by mutations in either the EPM2A gene or the NHLRC1 gene. These genes provide instructions for making proteins called laforin and malin, respectively. Laforin and malin play a critical role in the survival of nerve cells (neurons) in the brain.
Laryngo-onycho-cutaneous syndrome https://ghr.nlm.nih.gov/condition/laryngo-onycho-cutaneous-syndrome In LOC syndrome, granulation tissue also grows in the eyes, specifically the conjunctiva, which are the moist tissues that line the eyelids and the white part of the eyes. Affected individuals often have impairment or complete loss of vision due to the tissue overgrowth. LOC syndrome is caused by mutations in the LAMA3 gene, which provides instructions for making one part (subunit) of a protein called laminin 332. The mutations involved in LOC syndrome alter the structure of one version of the alpha subunit of laminin 332 (called alpha-3a). Laminins made with the altered subunit cannot effectively attach the epidermis to underlying layers of skin or regulate wound healing. These abnormalities of laminin 332 cause the cutaneous erosions and overgrowth of granulation tissue that are characteristic of LOC syndrome. The inability of laminin 332 to perform its other functions leads to the nail and tooth abnormalities that occur in this condition.
Lattice corneal dystrophy type I https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-i An eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. Affected individuals often have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Lattice corneal dystrophy type I is usually bilateral, which means it affects both eyes. The condition becomes apparent in childhood or adolescence and leads to vision problems by early adulthood. The TGFBI gene mutations involved in lattice corneal dystrophy type I change single protein building blocks (amino acids) in the TGFBI protein. Mutated TGFBI proteins abnormally clump together and form amyloid deposits. However, it is unclear how the changes caused by the gene mutations induce the protein to form deposits.
Lattice corneal dystrophy type II https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-ii Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body. Amyloid deposits lead to characteristic signs and symptoms involving the eyes, nerves, and skin that worsen with age.The earliest sign of this condition, which is usually identified in a person's twenties, is accumulation of amyloid deposits in the cornea (lattice corneal dystrophy).Because these protein deposits cloud the cornea, they often lead to vision impairment. In addition, affected individuals can have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Amyloid deposits and corneal erosions are usually bilateral, which means they affect both eyes. Mutations in the GSN gene. This gene provides instructions for making a protein called gelsolin. This protein is found throughout the body and helps regulate the formation of the network of protein filaments that gives structure to cells (the cytoskeleton). Mutations that cause lattice corneal dystrophy type II change a single protein building block (amino acid) in the gelsolin protein. The altered gelsolin protein is broken down differently than the normal protein, which results in an abnormal gelsolin protein fragment that is released from the cell. These protein fragments clump together and form amyloid deposits, which lead to the signs and symptoms of lattice corneal dystrophy type II.
Leber congenital amaurosis https://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis An eye disorder that primarily affects the retina, typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.also Associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all. Additionally, the clear front covering of the eye (the cornea) may be cone-shaped and abnormally thin, a condition known as keratoconus. Mutations in any of the genes (AIPL1, CEP290, CRB1, CRX, GUCY2D, IMPDH1, LCA5, LRAT, NMNAT1, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1) associated with Leber congenital amaurosis disrupt the development and function of the retina, resulting in early vision loss. Mutations in the CEP290, CRB1, GUCY2D, and RPE65 genes are the most common causes of the disorder, while mutations in the other genes generally account for a smaller percentage of cases. In about 30 percent of all people with Leber congenital amaurosis, the cause of the disorder is unknown.
Leber hereditary optic neuropathy https://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy An inherited form of vision loss. This condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. Blurring and clouding of vision are usually the first symptoms of LHON. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months. Over time, vision in both eyes worsens with a severe loss of sharpness (visual acuity) and color vision. This condition mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vision loss results from the death of cells in the nerve that relays visual information from the eyes to the brain (the optic nerve). Although central vision gradually improves in a small percentage of cases, in most cases the vision loss is profound and permanent. Mutations in the MT-ND1, MT-ND4, MT-ND4L, or MT-ND6 gene . The genes associated with LHON each provide instructions for making a protein involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen, fats, and simple sugars to energy. Mutations in any of the genes disrupt this process. It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of LHON.
Lenz microphthalmia syndrome https://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome A condition characterized by abnormal development of the eyes. The eye abnormalities associated with Lenz microphthalmia syndrome can affect one or both eyes. People with this condition are born with eyeballs that are abnormally small (microphthalmia) or absent (anophthalmia), leading to vision loss or blindness. Other eye problems can include clouding of the lens (cataract), involuntary eye movements (nystagmus), a gap or split in structures that make up the eye (coloboma), and a higher risk of an eye disease called glaucoma. Mutations in at least two genes on the X chromosome are thought to be responsible for Lenz microphthalmia syndrome. Only one of these genes, BCOR, has been identified. A mutation in the BCOR gene has been found in one family with Lenz microphthalmia syndrome. This mutation changes the structure of the BCL6 corepressor protein, which disrupts the normal development of the eyes and several other organs and tissues before birth.
Lissencephaly with cerebellar hypoplasia https://ghr.nlm.nih.gov/condition/lissencephaly-with-cerebellar-hypoplasia Some affected individuals have nearsightedness (myopia), involuntary eye movements (nystagmus) Mutations in either the RELN or TUBA1A gene impair the normal migration of neurons during fetal development. As a result, neurons are disorganized, the normal folds and grooves of the brain do not form, and brain structures do not develop properly. This impairment of brain development leads to the neurological problems characteristic of LCH.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency#genes Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include abnormalities in the light-sensitive tissue at the back of the eye (retina) Mutations in the HADHA gene that cause LCHAD deficiency disrupt one of the functions of this enzyme complex. These mutations prevent the normal processing of long-chain fatty acids from food and body fat. As a result, these fatty acids are not converted to energy, which can lead to some features of this disorder, such as lethargy and hypoglycemia. Long-chain fatty acids or partially metabolized fatty acids may also build up and damage the liver, heart, muscles, and retina. This abnormal buildup causes the other signs and symptoms of LCHAD deficiency.
Lowe syndrome https://ghr.nlm.nih.gov/condition/lowe-syndrome Lowe syndrome is a condition that primarily affects the eyes. nfants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by increased pressure within the eyes. Some mutations in the OCRL gene prevent the production of any OCRL enzyme. Other mutations reduce or eliminate the activity of the enzyme or prevent it from interacting with other proteins within the cell. Researchers are working to determine how OCRL mutations cause the characteristic features of Lowe syndrome. Because the OCRL enzyme is present throughout the body, it is unclear why the medical problems associated with this condition are mostly limited to the brain, kidneys, and eyes. It is possible that other enzymes may be able to compensate for the defective OCRL enzyme in unaffected tissues.
Lymphedema-distichiasis syndrome https://ghr.nlm.nih.gov/condition/lymphedema-distichiasis-syndrome Another characteristic of this syndrome is the growth of extra eyelashes (distichiasis), ranging from a few extra eyelashes to a full extra set on both the upper and lower lids. These eyelashes do not grow along the edge of the eyelid, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Related eye problems can include an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea. Mutations in the FOXC2 gene. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. Researchers believe that the FOXC2 protein has a role in a variety of developmental processes, such as the formation of veins and the development of the lungs, eyes, kidneys and urinary tract, cardiovascular system, and the transport system for immune cells (lymphatic vessels).
Mainzer-Saldino syndrome https://ghr.nlm.nih.gov/condition/mainzer-saldino-syndrome A disorder characterized by eye problems. Degeneration of the light-sensitive tissue at the back of the eye (the retina) almost always occurs in this disorder, but the age at which this feature develops varies. Some affected individuals are blind or have severe vision impairment beginning in infancy, with the pattern of vision loss resembling a condition called Leber congenital amaurosis. In other people with Mainzer-Saldino syndrome, the retinal degeneration begins in childhood, but some vision is retained into early adulthood. The vision loss in these affected individuals resembles a category of retinal disorders called rod-cone dystrophies. The most common rod-cone dystrophy is called retinitis pigmentosa, and the vision problems in Mainzer-Saldino syndrome are sometimes referred to as such. However, the abnormal deposits of pigment in the retina from which retinitis pigmentosa gets its name are often not found in Mainzer-Saldino syndrome. As a result, some researchers use terms such as "atypical retinitis pigmentosa without pigment" to describe the retinal degeneration that occurs in Mainzer-Saldino syndrome. Mutations in the IFT140 gene that cause Mainzer-Saldino syndrome may change the shape of the IFT140 protein or affect its interactions with other IFT proteins, likely impairing the assembly of IFT-A and the development or maintenance of cilia. As a result, fewer cilia may be present or functional, affecting many organs and tissues in the body and resulting in the signs and symptoms of Mainzer-Saldino syndrome. Disorders such as Mainzer-Saldino syndrome that are caused by problems with cilia and involve bone abnormalities are called skeletal ciliopathies.
Marfan syndrome https://ghr.nlm.nih.gov/condition/marfan-syndrome Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). A mutation in the FBN1 gene can reduce the amount of functional fibrillin-1 that is available to form microfibrils, which leads to decreased microfibril formation. As a result, excess growth factors are released and elasticity in many tissues is decreased, leading to overgrowth and instability of tissues.
Marinesco-Sjögren syndrome https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome People with Marinesco-Sjögren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Other features of Marinesco-Sjögren syndrome include eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), Approximately one-third of people with Marinesco-Sjögren syndrome do not have identified mutations in the SIL1 gene. In these cases, the cause of the condition is unknown.
Maternally inherited diabetes and deafness https://ghr.nlm.nih.gov/condition/maternally-inherited-diabetes-and-deafness Some people with MIDD develop an eye disorder called macular retinal dystrophy, which is characterized by colored patches in the light-sensitive tissue that lines the back of the eye (the retina). This disorder does not usually cause vision problems in people with MIDD. I Mutations in the MT-TL1, MT-TK, or MT-TE gene cause MIDD. These genes are found in mitochondrial DNA. Mutations in the MT-TL1, MT-TK, or MT-TE gene reduce the ability of tRNA to add amino acids to growing proteins, which slows protein production in mitochondria and impairs their functioning. Researchers believe that the disruption of mitochondrial function lessens the ability of mitochondria to help trigger insulin release. In people with this condition, diabetes results when the beta cells do not produce enough insulin to regulate blood sugar effectively. Researchers have not determined how the mutations lead to hearing loss or the other features of MIDD.
Meesmann corneal dystrophy https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy An eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. Cysts can appear as early as the first year of life. They usually affect both eyes and increase in number over time. The cysts usually do not cause any symptoms until late adolescence or adulthood, when they start to break open (rupture) on the surface of the cornea and cause irritation. The resulting symptoms typically include increased sensitivity to light (photophobia), twitching of the eyelids (blepharospasm), increased tear production, the sensation of having a foreign object in the eye, and an inability to tolerate wearing contact lenses. Some affected individuals also have temporary episodes of blurred vision. Meesmann corneal dystrophy can result from mutations in either the KRT12 gene or the KRT3 gene. These genes provide instructions for making proteins called keratin 12 and keratin 3, which are found in the corneal epithelium. The two proteins interact to form the structural framework of this layer of the cornea. Mutations in either the KRT12 or KRT3 gene weaken this framework, causing the corneal epithelium to become fragile and to develop the cysts that characterize the disorder. The cysts likely contain clumps of abnormal keratin proteins and other cellular debris. When the cysts rupture, they cause eye irritation and the other symptoms of Meesmann corneal dystrophy
Metachromatic leukodystrophy https://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy Affected individuals also develop blindness Mutations in the ARSA or PSAP genes result in a decreased ability to break down sulfatides, resulting in the accumulation of these substances in cells. Excess sulfatides are toxic to the nervous system. The accumulation gradually destroys myelin-producing cells, leading to the impairment of nervous system function that occurs in metachromatic leukodystrophy.
Mevalonate kinase deficiency https://ghr.nlm.nih.gov/condition/mevalonate-kinase-deficiency Affected children have progressive problems with vision. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts) Most MVK gene mutations that cause mevalonate kinase deficiency result in an enzyme that is unstable and folded into an incorrect 3-dimensional shape, leading to a reduction of mevalonate kinase enzyme activity. Despite this shortage (deficiency) of mevalonate kinase activity, people with mevalonate kinase deficiency typically have normal production of cholesterol, steroid hormones, and bile acids. It is unclear how a lack of mevalonate kinase activity causes the signs and symptoms of this condition.
Microphthalmia https://ghr.nlm.nih.gov/condition/microphthalmia An eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss. People with microphthalmia may also have a condition called coloboma. People with microphthalmia may also have other eye abnormalities, including cataract and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. Microphthalmia may be caused by changes in many genes (BCOR, BMP4, GDF3, GDF6, MFRP, OTX2, PAX6, PRSS56, RAX, SHH, SIX6, SOX2, STRA6, VSX2) involved in the early development of the eye, most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes. Most genetic changes associated with isolated microphthalmia have been identified only in very small numbers of affected individuals.
Mitochondrial complex I deficiency https://ghr.nlm.nih.gov/condition/mitochondrial-complex-i-deficiency Vision problems due to abnormal eye movement or breakdown (degeneration) of the nerves that carry signals from the eyes to the brain (optic nerves) can also occur. Mutations in many genes (ACAD9, ELAC2, FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TL1, MTFMT, NDUFA1, NDUFA2, NDUFA9, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFB10, NDUFB11, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, PPA2, TIMMDC1, TMEM126) can cause mitochondrial complex I deficiency. Most of these genes provide instructions for making components of complex I or proteins that help assemble the complex. In some cases, the genes are involved in other functions that influence these processes.
Mitochondrial complex V deficiency https://ghr.nlm.nih.gov/condition/mitochondrial-complex-v-deficiency mitochondrial complex V deficiency can cause a condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). NARP causes a variety of signs and symptoms chiefly affecting the nervous system. Many affected individuals also have cognitive impairment and an eye disorder called retinitis pigmentosa that causes vision loss. Mutations in any of several genes (ATP5F1A, ATP5F1E, ATPAF2, MT-ATP6, MT-ATP8, TMEM7)can cause mitochondrial complex V deficiency. These genes provide instructions for making components of complex V or proteins that help assemble the complex.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia). MELAS can result from mutations in one of several genes, including MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV. These genes are found in the DNA of cellular structures called mitochondria. Mutations in a particular transfer RNA gene, MT-TL1, cause more than 80 percent of all cases of MELAS. These mutations impair the ability of mitochondria to make proteins, use oxygen, and produce energy. Researchers have not determined how changes in mtDNA lead to the specific signs and symptoms of MELAS. They continue to investigate the effects of mitochondrial gene mutations in different tissues, particularly in the brain.
Mitochondrial membrane protein-associated neurodegeneration https://ghr.nlm.nih.gov/condition/mitochondrial-membrane-protein-associated-neurodegeneration Vision impairment degeneration of the nerve cells that carry visual information from the eyes to the brain (optic atrophy), which can impair vision Mutations in the C19orf12 gene
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome#genes MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is most frequently seen in the Navajo population of the southwestern United States. Individuals with Navajo neurohepatopathy may lack feeling in the clear front covering of the eye (corneal anesthesia), which can lead to open sores and scarring on the cornea, resulting in impaired vision. The cause of these additional features is unknown.
Mucolipidosis type IV https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. Vision may be normal at birth in people with typical mucolipidosis type IV, but it becomes increasingly impaired during the first decade of life. Individuals with this condition develop clouding of the clear covering of the eye (cornea) and progressive breakdown of the light-sensitive layer at the back of the eye (retina). By their early teens, affected individuals have severe vision loss or blindness. Most mutations in the MCOLN1 gene result in the production of a nonfunctional protein or prevent any protein from being produced. A lack of functional mucolipin-1 impairs transport of lipids and proteins, causing these substances to build up inside lysosomes. Conditions that cause molecules to accumulate inside the lysosomes, including mucolipidosis type IV, are called lysosomal storage disorders. Two mutations in the MCOLN1 gene account for almost all cases of mucolipidosis type IV in people with Ashkenazi Jewish ancestry. It remains unclear how mutations in this gene lead to the signs and symptoms of mucolipidosis type IV.
Mucopolysaccharidosis type I https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-i People with MPS I often develop clouding of the clear covering of the eye (cornea), which can cause significant vision loss. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt the movement of molecules inside the cell.
Mucopolysaccharidosis type II https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina) and have reduced vision. Mutations in the IDS gene reduce or completely eliminate the function of the I2S enzyme. Lack of I2S enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS II, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt the movement of molecules inside the cell.
Mucopolysaccharidosis type III https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii People with MPS III may also have hearing loss and vision problems. Mutations in the GNS, HGSNAT, NAGLU, and SGSH genes cause MPS III. MPS IIIA is caused by mutations in the SGSH gene, and MPS IIIB is caused by NAGLU gene mutations. Mutations in the HGSNAT gene result in MPS IIIC, and GNS gene mutations cause MPS IIID. Mutations in these genes reduce or eliminate enzyme function. A lack of any one of these enzymes disrupts the breakdown of heparan sulfate. As a result, partially broken down heparan sulfate accumulates within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions such as MPS III that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. Researchers believe that the accumulation of GAGs interferes with the functions of other proteins inside the lysosomes and disrupts the normal functions of cells. It is unknown why the buildup of heparan sulfate mostly affects the central nervous system in MPS III.
Mucopolysaccharidosis type IV https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv In people with MPS IV, the clear covering of the eye (cornea) typically becomes cloudy, which can cause vision loss. Mutations in the GALNS and GLB1 genes reduce or completely eliminate the activity of the enzymes produced from these genes. Without these enzymes, GAGs accumulate within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that break down and recycle different types of molecules. Conditions such as MPS IV that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. In MPS IV, GAGs accumulate to toxic levels in many tissues and organs, particularly in the bones. The accumulation of GAGs causes the bone deformities in this disorder. Researchers believe that the buildup of GAGs may also cause the features of MPS IV by interfering with the functions of other proteins inside lysosomes and disrupting the movement of molecules inside the cell.
Mucopolysaccharidosis type VI https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi The clear covering of the eye (cornea) typically becomes cloudy, which can cause significant vision loss. Mutations in the ARSB gene reduce or completely eliminate the function of arylsulfatase B. The lack of arylsulfatase B activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions such as MPS VI that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. The accumulation of GAGs within lysosomes increases the size of the cells, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the buildup of GAGs may also interfere with the functions of other proteins inside lysosomes, triggering inflammation and cell death.
Mucopolysaccharidosis type VII https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii The clear covering of the eye (cornea) typically becomes cloudy, which can cause significant vision loss. Mutations in the GUSB gene reduce or completely eliminate the function of β-glucuronidase. The shortage (deficiency) of β-glucuronidase leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions such as MPS VII that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt many normal functions of cells.
Multicentric osteolysis, nodulosis, and arthropathy (MONA) https://ghr.nlm.nih.gov/condition/multicentric-osteolysis-nodulosis-and-arthropathy Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity) The MMP2 gene mutations that cause MONA completely eliminate the activity of the matrix metallopeptidase 2 enzyme, preventing the normal cleavage of type IV collagen. It is unclear how a loss of enzyme activity leads to the specific features of MONA.
Multiple familial trichoepithelioma https://ghr.nlm.nih.gov/condition/multiple-familial-trichoepithelioma A condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. In severe cases, the tumors may get in the way of the eyes and affect vision, People with CYLD-related multiple familial trichoepithelioma are born with a mutation in one of the two copies of the CYLD gene in each cell. This mutation prevents the cell from making functional CYLD protein from the altered copy of the gene. However, enough protein is usually produced from the other, normal copy of the gene to regulate cell growth effectively. For tumors to develop, a second mutation or deletion of genetic material involving the other copy of the CYLD gene must occur in certain cells during a person's lifetime.
Multiple sclerosis https://ghr.nlm.nih.gov/condition/multiple-sclerosis Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. I Variations in dozens of genes (CYP27B1, HLA-DRB1, IL2RA, IL7R, TNFRSF1 )are thought to be involved in multiple sclerosis risk. Changes in the HLA-DRB1 gene are the strongest genetic risk factors for developing multiple sclerosis. Other factors associated with an increased risk of developing multiple sclerosis include changes in the IL7R gene
Myasthenia gravis https://ghr.nlm.nih.gov/condition/myasthenia-gravis The weakness most often starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) and difficulty coordinating eye movements, which results in blurred or double vision. Researchers believe that variations in particular genes may increase the risk of myasthenia gravis, but the identity of these genes is unknown
MYH9-related disorder https://ghr.nlm.nih.gov/condition/myh9-related-disorder Clouding of the lens of the eyes (cataracts).Some affected individuals develop cataracts in early adulthood that worsen over time.Not everyone with MYH9-related disorder has all of the major features. Cataracts are the least common sign of this disorder.
Myhre syndrome https://ghr.nlm.nih.gov/condition/myhre-syndrome Vision problems are common in this disorder and can include eyes that do not point in the same direction (strabismus), nearsightedness (myopia), farsightedness (hyperopia), an irregular curvature of the front of the eye (astigmatism), clouding of the lenses (cataracts), or an abnormality of the back of the eye called pseudopapilledema. Studies suggest that the SMAD4 gene mutations that cause Myhre syndrome result in an abnormally stable SMAD4 protein that remains active in the cell longer than it is needed. Increased SMAD4 availability allows the protein more time to interact with other proteins and may result in abnormal TGF-β signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome.
Myofibrillar myopathy https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy Rarely, people with this condition develop clouding of the lens of the eyes (cataracts). At least six genes (BAG3, CRYAB, DES, FLNC, LDB3, MYOT) have been associated with myofibrillar myopathy. Mutations in these six genes account for approximately half of all cases of this condition. Mutations in the DES, MYOT, and LDB3 genes are responsible for the majority of cases of myofibrillar myopathy when the genetic cause is known.
Myotonic dystrophy https://ghr.nlm.nih.gov/condition/myotonic-dystrophy Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. The specific functions of these genes are unclear.
Nail-patella syndrome https://ghr.nlm.nih.gov/condition/nail-patella-syndrome Individuals with this condition are at risk of developing increased pressure within the eyes (glaucoma) at an early age. Mutations in the LMX1B gene cause nail-patella syndrome.
Neonatal onset multisystem inflammatory disease https://ghr.nlm.nih.gov/condition/neonatal-onset-multisystem-inflammatory-disease vision problems may result from nerve damage and inflammation in various tissues of the eyes. Mutations in the NLRP3 gene (also known as CIAS1) cause NOMID. The NLRP3 gene provides instructions for making a protein called cryopyrin. In about 50 percent of individuals diagnosed with NOMID, no mutations in the NLRP3 gene have been identified. The cause of NOMID in these individuals is unknown.
Nephronophthisis https://ghr.nlm.nih.gov/condition/nephronophthisis Breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration) The genetic mutations (ANKS6, CEP83, CEP164, GLIS2, INVS, NEK8, NPHP1, NPHP3, NPHP4, TMEM67, TTC21B, WDR19, ZNF423) involved in nephronophthisis are thought to impair the structure or function of cilia in some way, which likely disrupts important chemical signaling pathways during development. Although researchers believe that defective cilia lead to the features of nephronophthisis, the mechanism remains unclear. It is unknown why some people with mutations in nephronophthisis-associated genes have only kidney problems, while others develop additional signs and symptoms.
Neurofibromatosis type 1 https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1 Some affected individuals also develop tumors that grow along the nerve leading from the eye to the brain (the optic nerve). These tumors, which are called optic gliomas, may lead to reduced vision or total vision loss. In some cases, optic gliomas have no effect on vision. Mutations in the NF1 gene.
Neurofibromatosis type 2 https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2 Complications of tumor growth can include changes in vision. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood Mutations in the NF2 gene. Mutations in the NF2 gene lead to the production of a nonfunctional version of the merlin protein that cannot regulate the growth and division of cells. Research suggests that the loss of merlin allows cells, especially Schwann cells, to multiply too frequently and form the tumors characteristic of neurofibromatosis type 2.
Neuromyelitis optica https://ghr.nlm.nih.gov/condition/neuromyelitis-optica Neuromyelitis optica is characterized by optic neuritis, which is inflammation of the nerve that carries information from the eye to the brain (optic nerve). Optic neuritis causes eye pain and vision loss, which can occur in one or both eyes.There are two forms of neuromyelitis optica, the relapsing form and the monophasic form.The monophasic form, which is less common, causes a single episode of neuromyelitis optica that can last several months. People with this form of the condition can also have lasting muscle weakness or paralysis and vision loss. This form affects men and women equally. The onset of either form of neuromyelitis optica can occur anytime from childhood to adulthood, although the condition most frequently begins in a person's forties. No genes associated with neuromyelitis optica have been identified.
Neuropathy, ataxia, and retinitis pigmentosa https://ghr.nlm.nih.gov/condition/neuropathy-ataxia-and-retinitis-pigmentosa Many affected individuals also have vision loss caused by changes in the light-sensitive tissue that lines the back of the eye (the retina). In some cases, the vision loss results from a condition called retinitis pigmentosa. This eye disease causes the light-sensing cells of the retina gradually to deteriorate. NARP results from mutations in the MT-ATP6 gene. This gene is contained in mitochondrial DNA, The MT-ATP6 protein forms one part (subunit) of an enzyme called ATP synthase, which is responsible for the last step in ATP production. Mutations in the MT-ATP6 gene alter the structure or function of ATP synthase, reducing the ability of mitochondria to make ATP. It remains unclear how this disruption in mitochondrial energy production leads to muscle weakness, vision loss, and the other specific features of NARP.
NGLY1-congenital disorder of deglycosylation https://ghr.nlm.nih.gov/condition/ngly1-congenital-disorder-of-deglycosylation Some affected individuals have eye abnormalities, including degeneration of the nerves that carry information from the eyes to the brain (optic atrophy) and changes in the light-sensing tissue at the back of the eye (the retina). A reduction or absence of tears (hypolacrima or alacrima) is a common feature of NGLY1-CDDG. NGLY1-CDDG is caused by mutations in the NGLY1 gene. The enzyme produced from this gene, called N-glycanase 1, helps cells get rid of abnormal proteins
Noonan syndrome https://ghr.nlm.nih.gov/condition/noonan-syndrome Some affected individuals have vision problem. Mutations in the PTPN11 gene cause about half of all cases. SOS1 gene mutations cause an additional 10 to 15 percent, and RAF1 and RIT1 genes each account for about 5 percent of cases. Mutations in other genes, eg MAP2K ,each account for a small number of cases. The cause of Noonan syndrome in 15 to 20 percent of people with this disorder is unknown.
Norrie disease https://ghr.nlm.nih.gov/condition/norrie-disease Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises (colored portions of the eyes) or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts (cloudiness in the lens of the eye) may eventually develop. Mutations in the NDP gene cause Norrie disease. The NDP gene provides instructions for making a protein called norrin. Norrin participates in the Wnt cascade, a sequence of steps that affect the way cells and tissues develop. In particular, norrin seems to play a critical role in the specialization of retinal cells for their unique sensory capabilities. It is also involved in the establishment of a blood supply to tissues of the retina and the inner ear, and the development of other body systems.
Ocular albinism https://ghr.nlm.nih.gov/condition/ocular-albinism A genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, and the retina, characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves. Most mutations in the GPR143 gene alter the size or shape of the GPR143 protein. Many of these genetic changes prevent the protein from reaching melanosomes to control their growth. In other cases, the protein reaches melanosomes normally but mutations disrupt the protein's function. As a result of these changes, melanosomes in skin cells and the retina can grow abnormally large. Researchers are uncertain how these giant melanosomes are related to vision loss and other eye abnormalities in people with ocular albinism. Rare cases of ocular albinism are not caused by mutations in the GPR143 gene. In these cases, the genetic cause of the condition is often unknown.
Oculocutaneous albinism https://ghr.nlm.nih.gov/condition/oculocutaneous-albinism People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia). Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Oculocutaneous albinism can result from mutations in several genes (LRMDA, MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1), Mutations in any of these genes disrupt the ability of cells to make melanin, which reduces pigmentation in the skin, hair, and eyes. A lack of melanin in the retina leads to the vision problems characteristic of oculocutaneous albinism. Some individuals with oculocutaneous albinism do not have mutations in any of the known genes.
Oculodentodigital dysplasia https://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia Affects many parts of the body, particularly the eyes (oculo-), GJA1 gene mutations result in abnormal connexin43 proteins. Channels formed with abnormal proteins are often permanently closed. Some mutations prevent connexin43 proteins from traveling to the cell surface where they are needed to form channels between cells. Impaired functioning of these channels disrupts cell-to-cell communication, which likely interferes with normal cell growth and cell specialization, processes that determine the shape and function of many different parts of the body. These developmental problems cause the signs and symptoms of oculodentodigital dysplasia.
Oculofaciocardiodental syndrome https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-),The eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a higher risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness. Several mutations in the BCOR gene have been found in people with OFCD syndrome. These mutations prevent the production of any functional protein from the altered gene, which disrupts the normal development of the eyes and several other organs and tissues before birth.
Optic atrophy type 1 https://ghr.nlm.nih.gov/condition/optic-atrophy-type-1 Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). Affected individuals gradually lose their sight as their field of vision becomes smaller. Both eyes are usually affected equally, but the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness. In addition to vision loss, people with optic atrophy type 1 frequently have problems with color vision (color vision deficiency) that make it difficult or impossible to distinguish between shades of blue and green.In the early stages of the condition, individuals with optic atrophy type 1 experience a progressive loss of certain cells within the retina, which is a specialized light-sensitive tissue that lines the back of the eye. The loss of these cells (known as retinal ganglion cells) is followed by the degeneration (atrophy) of the nerves that relay visual information from the eye to the brain (optic nerves), which results in further vision loss. Atrophy causes these nerves to have an abnormally pale appearance (pallor), which can be seen during an eye examination. Mutations in the OPA1 gene lead to problems with mitochondrial function. The mitochondria become misshapen and disorganized and have reduced energy-producing capabilities. The maintenance of mtDNA may also be impaired, resulting in mtDNA mutations that further interfere with mitochondrial energy production. Cells that contain these poorly functioning mitochondria are more susceptible to apoptosis. In particular, cells that have high energy demands, such as retinal ganglion cells, die over time. Specialized extensions of retinal ganglion cells, called axons, form the optic nerves, so when retinal ganglion cells die, the optic nerves atrophy and cannot transmit visual information to the brain.
Oral-facial-digital syndrome https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#definition Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular vision loss Mutations in the OFD1 gene prevent cells from making enough functional OFD1 protein, which disrupts the normal development of these structures. It is unclear how a shortage of this protein causes the specific features of oral-facial-digital syndrome type I.
Ornithine translocase deficiency https://ghr.nlm.nih.gov/condition/ornithine-translocase-deficiency Ornithine translocase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. This rapid increase of ammonia may lead to episodes of blurred vision. Mutations in the SLC25A15 gene result in a mitochondrial ornithine transporter that is unstable or the wrong shape, and which cannot bring ornithine to the mitochondrial matrix. This failure of ornithine transport causes an interruption of the urea cycle and the accumulation of ammonia, resulting in the signs and symptoms of ornithine translocase deficiency.
Osteopetrosis https://ghr.nlm.nih.gov/condition/osteopetrosis Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, Mutations in at least nine genes (CA2, CLCN7, IKBKG, ITGB3, OSTM1, PLEKHM1, TCIRG1, TNFRSF11A, TNFSF11)
Osteoporosis-pseudoglioma syndrome https://ghr.nlm.nih.gov/condition/osteoporosis-pseudoglioma-syndrome Most affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma. LRP5 gene mutations that cause osteoporosis-pseudoglioma syndrome prevent cells from making any LRP5 protein or lead to a protein that cannot function. Loss of this protein's function disrupts the chemical signaling pathways that are needed for the formation of bone and for normal retinal development, leading to the bone and eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome.
Pallister-Killian mosaic syndrome https://ghr.nlm.nih.gov/condition/pallister-killian-mosaic-syndrome Additional features of Pallister-Killian mosaic syndrome can include vision impairment, Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms.
Pantothenate kinase-associated neurodegeneration https://ghr.nlm.nih.gov/condition/pantothenate-kinase-associated-neurodegeneration Some develop vision loss Mutations in the PANK2 gene likely result in the production of an abnormal version of pantothenate kinase 2 or prevent cells from making any of this enzyme. A lack of functional pantothenate kinase 2 disrupts the production of coenzyme A and allows potentially harmful compounds to build up in the brain. This buildup leads to swelling and tissue damage, and allows iron to accumulate abnormally in certain parts of the brain. Researchers have not determined how these changes result in the specific features of pantothenate kinase-associated neurodegeneration. Because pantothenate kinase 2 functions in mitochondria, the signs and symptoms of this condition may be related to impaired energy production.
Peroxisomal acyl-CoA oxidase deficiency https://ghr.nlm.nih.gov/condition/peroxisomal-acyl-coa-oxidase-deficiency As the condition gets worse, affected children develop loss of vision . Most children with peroxisomal acyl-CoA oxidase deficiency do not survive past early childhood. ACOX1 gene mutations prevent the peroxisomal straight-chain acyl-CoA oxidase enzyme from breaking down VLCFAs efficiently. As a result, these fatty acids accumulate in the body. It is unclear exactly how VLCFA accumulation leads to the specific features of peroxisomal acyl-CoA oxidase deficiency. However, researchers suggest that the abnormal fatty acid accumulation triggers inflammation in the nervous system that leads to the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Destruction of myelin leads to a loss of myelin-containing tissue (white matter) in the brain and spinal cord; loss of white matter is described as leukodystrophy. Leukodystrophy is likely involved in the development of the neurological abnormalities that occur in peroxisomal acyl-CoA oxidase deficiency.
Peters anomaly https://ghr.nlm.nih.gov/condition/peters-anomaly Eye problems that occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part (iris) of the eye, and the clear covering of the eye (cornea). During development of the eye, the elements of the anterior segment form separate structures. However, in Peters anomaly, development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens. As a result, the cornea is cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the cornea varies in size and intensity from a small, faint streak to a large, white cloudy area that covers the front surface of the eye. Additionally, the location of the opacity varies; the cloudiness may be at the center of the cornea or off-center. Large, centrally located opacities tend to cause poorer vision than smaller, off-center ones. Nearly half of the individuals affected with Peters anomaly have low vision early in life and about a quarter are legally blind. Due to a lack of visual stimulation, some individuals develop "lazy eye" (amblyopia). Peters anomaly is often associated with other eye problems, such as increased pressure within the eye (glaucoma), clouding of the lens (cataract), and unusually small eyeballs (microphthalmia). In most cases, Peters anomaly is bilateral, which means that it affects both eyes, although the level of vision impairment may be different in each eye. These individuals may have eyes that do not point in the same direction (strabismus). In some people with Peters anomaly, corneal clouding improves over time leading to improved vision. Mutations in the FOXC1, PAX6, PITX2, or CYP1B1 gene can cause Peters anomaly.Mutations in any of these four genes disrupt development of the anterior segment of the eye. These mutations can lead to severe developmental problems, such as incomplete separation of eye structures and complete corneal opacity, or they can result in minor eye abnormalities including small, faint opacities. It is likely that mutations that cause a complete absence of protein function result in the most severe eye problems. It is unknown why both eyes are affected in some cases and in others only one eye is abnormal.In many cases of Peters anomaly, there is no mutation identified in any of these four genes. The cause of the condition in these cases is unknown.
Pitt-Hopkins syndrome https://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome Other features of Pitt-Hopkins syndrome may include nearsightedness (myopia), eyes that do not look in the same direction (strabismus), TCF4 gene mutations disrupt the protein's ability to bind to DNA and control the activity of certain genes. These disruptions, particularly the inability of the TCF4 protein to control the activity of genes involved in nervous system development and function, contribute to the signs and symptoms of Pitt-Hopkins syndrome. Furthermore, additional proteins interact with the TCF4 protein to carry out specific functions. When the TCF4 protein is nonfunctional, these other proteins are also unable to function normally. It is also likely that the loss of the normal proteins that are attached to the nonfunctional TCF4 proteins contribute to the features of this condition. The loss of one protein in particular, the ASCL1 protein, is thought to be associated with breathing problems in people with Pitt-Hopkins syndrome.
Pol III-related leukodystrophy https://ghr.nlm.nih.gov/condition/pol-iii-related-leukodystrophy People with Pol III-related leukodystrophy often have abnormalities in eye movement, such as progressive vertical gaze palsy, which is restricted up-and-down eye movement that worsens over time. Nearsightedness is common in affected individuals, and clouding of the lens of the eyes (cataracts) has also been reported. Researchers suggest that mutations in the POLR3A or POLR3B gene may impair the ability of subunits of the RNA polymerase III enzyme to assemble properly or result in an RNA polymerase III with impaired ability to bind to DNA. Reduced function of the RNA polymerase III molecule likely affects development and function of many parts of the body, including the nervous system and the teeth, but the relationship between POLR3A and POLR3B gene mutations and the specific signs and symptoms of Pol III-related leukodystrophy is unknown.
Polycythemia vera https://ghr.nlm.nih.gov/condition/polycythemia-vera Some people with polycythemia vera experience impaired vision, Mutations in the JAK2 and TET2 genes
Pontocerebellar hypoplasia https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia Individuals with PCH1 also have vision impairment, Pontocerebellar hypoplasia can result from mutations in several genes (AMPD2, CHMP1A, CLP1, EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1). About half of all cases of PCH1 are caused by mutations in the EXOSC3 gene. PCH1 can also result from mutations in several other genes, including TSEN54, RARS2, and VRK1. PCH2 is caused by mutations in the TSEN54, TSEN2, TSEN34, or SEPSECS gene. In addition to causing PCH1 and PCH2, mutations in the TSEN54 gene can cause PCH4 and PCH5.
Potocki-Lupski syndrome https://ghr.nlm.nih.gov/condition/potocki-lupski-syndrome Other signs and symptoms of Potocki-Lupski syndrome can include vision problems, Potocki-Lupski syndrome results from a duplication of genetic material at 17p11.2. In about two-thirds of affected individuals, the duplicated segment includes approximately 3.7 million DNA building blocks (base pairs), also written as 3.7 megabases (Mb). (A deletion of this segment causes a related condition called Smith-Magenis syndrome.) In the remaining one-third of cases, the duplication is larger or smaller, ranging from less than 1 Mb to almost 20 Mb. All of these duplications affect one of the two copies of chromosome 17 in each cell.Although the duplicated region contains multiple genes, researchers believe that having an extra copy of one particular gene, RAI1, underlies many of the characteristic features of Potocki-Lupski syndrome. Extra copies of other genes at 17p11.2 likely also contribute to the features of this di (ALX4, EXT2, PHF21A)sorder; the role of these genes is under study.
Preeclampsia https://ghr.nlm.nih.gov/condition/preeclampsia Vision changes may develop, including flashing lights or spots, increased sensitivity to light (photophobia), blurry vision, or temporary blindness. The specific causes of preeclampsia are not well understood.
Primary coenzyme Q10 deficiency https://ghr.nlm.nih.gov/condition/primary-coenzyme-q10-deficiency Other neurological abnormalities that can occur in primary coenzyme Q10 deficiency include abnormal eye movements (nystagmus), vision loss caused by degeneration (atrophy) of the optic nerves or breakdown of the light-sensing tissue at the back of the eyes (retinopathy), and sensorineural hearing loss (which is caused by a with coenzyme Q10 supplementation. Primary coenzyme Q10 deficiency is caused by mutations in genes that provide instructions for making proteins involved in the production (synthesis) of a molecule called coenzyme Q10. Collectively, they are called the COQ genes. Most of the identified mutations have occurred in the COQ2, COQ4, COQ6, COQ8A, and COQ8B genes. Smaller numbers of mutations in other COQ genes have also been found to cause primary coenzyme Q10 deficiency.
Progressive supranuclear palsy https://ghr.nlm.nih.gov/condition/progressive-supranuclear-palsy Progressive supranuclear palsy is a brain disorder that affects movement, vision, Progressive supranuclear palsy is also characterized by abnormal eye movements, which typically develop several years after the other movement problems first appear. Restricted up-and-down eye movement (vertical gaze palsy) is a hallmark of this disease. Other eye movement problems include difficulty opening and closing the eyelids, infrequent blinking, and pulling back (retraction) of the eyelids. These abnormalities can lead to blurred vision, an increased sensitivity to light (photophobia), and a staring gaze. In most cases, the genetic cause of progressive supranuclear palsy is unknown. Rarely, the disease results from mutations in the MAPT gene. In people with MAPT gene mutations, genetic changes disrupt the protein's normal structure and function. However, abnormal tau is also found in affected individuals without MAPT gene mutations. The defective tau protein assembles into abnormal clumps within neurons and other brain cells, although it is unclear what effect these clumps have on cell function and survival. Progressive supranuclear palsy is characterized by the gradual death of brain cells, particularly in structures deep within the brain that are essential for coordinating movement. This loss of brain cells underlies the movement abnormalities and other features of progressive supranuclear palsy.
Proteus syndrome https://ghr.nlm.nih.gov/condition/proteus-syndrome Some people with Proteus syndrome have neurological abnormalities, including vision loss. Proteus syndrome results from a mutation in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a genetic mutation is known as mosaicism.A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally. Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristic of Proteus syndrome. Studies suggest that an AKT1 gene mutation is more common in groups of cells that experience overgrowth than in the parts of the body that grow normally.
Pseudoxanthoma elasticum https://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum Bleeding and scarring of the retina may also occur, which can cause vision loss. Mutations in the ABCC6 gene lead to an absent or nonfunctional MRP6 protein. It is unclear how a lack of properly functioning MRP6 protein leads to PXE.
Refsum disease https://ghr.nlm.nih.gov/condition/refsum-disease An inherited condition that causes vision loss,The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye. Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which often becomes apparent in childhood. Over a period of years, the disease disrupts side (peripheral) vision and may eventually lead to blindness. More than 90 percent of all cases of Refsum disease result from mutations in the PHYH gene. The remaining cases are caused by mutations in a gene called PEX7.Mutati ons in either the PHYH or PEX7 gene disrupt the usual functions of peroxisomes, including the breakdown of phytanic acid. As a result, this substance builds up in the body's tissues. The accumulation of phytanic acid is toxic to cells, although it is unclear how an excess of this substance affects vision and smell and causes the other specific features of Refsum disease.
Renal coloboma syndrome https://ghr.nlm.nih.gov/condition/renal-coloboma-syndrome people with renal coloboma syndrome may have a malformation in the optic nerve, a structure that carries information from the eye to the brain. Optic nerve malformations are sometimes associated with a gap or hole (coloboma) in the light-sensitive tissue at the back of the eye (the retina). The vision problems caused by these abnormalities can vary depending on the size and location of the malformation. Some people have no visual problems, while others may have severely impaired vision. Mutations in the PAX2 gene lead to the production of a nonfunctional PAX2 protein that is unable to aid in development, causing incomplete formation of certain tissues. Why the kidneys and eyes are specifically affected by PAX2 gene mutations is unclear.
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis https://ghr.nlm.nih.gov/condition/retinal-arterial-macroaneurysm-with-supravalvular-pulmonic-stenosis RAMSVPS damages the arteries in the light-sensitive tissue at the back of the eye (the retina). These arteries gradually develop multiple small bulges called beading. Eventually, larger bulges in the blood vessel walls (macroaneurysms) occur. These macroaneurysms can tear (rupture), leading to bleeding that can spread into other areas of the eye and cause vision loss The IGFBP7 gene mutation that causes RAMSVPS results in an abnormally short IGFBP7 protein that does not function properly. Without normally functioning IGFBP7 protein to control BRAF signaling, this signaling is increased. It is unknown how this increase is related to the specific blood vessel abnormalities that occur in RAMSVPS, or why these abnormalities are confined to the eyes and the pulmonary artery. Researchers suggest that differences in normal levels of IGFBP7 protein in various parts of the body or the presence of other proteins with a similar function in different tissues may account for the specific signs and symptoms of this disorder.
Retinitis pigmentosa https://ghr.nlm.nih.gov/condition/retinitis-pigmentosa A group of related eye disorders that cause progressive vision loss. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with night vision can make it difficult to navigate in low light. Later, the disease causes blind spots to develop in the side (peripheral) vision. Over time, these blind spots merge to produce tunnel vision. The disease progresses over years or decades to affect central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In adulthood, many people with retinitis pigmentosa become legally blind. Mutations in more than 60 genes are known to cause nonsyndromic retinitis pigmentosa.(ABCA4, BEST1, C2orf71, CA4, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, EYS, FAM161A, FSCN2, GUCA1B, IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MERTK, MT-TS2, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF8, PRPF31, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, WDR19, ZNF51) More than 20 of these genes are associated with the autosomal dominant form of the disorder. Mutations in the RHO gene are the most common cause of autosomal dominant retinitis pigmentosa, accounting for 20 to 30 percent of all cases. At least 35 genes have been associated with the autosomal recessive form of the disorder. The most common of these is USH2A; mutations in this gene are responsible for 10 to 15 percent of all cases of autosomal recessive retinitis pigmentosa. Changes in at least six genes are thought to cause the X-linked form of the disorder. Together, mutations in the RPGR and RP2 genes account for most cases of X-linked retinitis pigmentosa.
Retinoblastoma视网膜母细胞瘤 https://ghr.nlm.nih.gov/condition/retinoblastoma Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, Retinoblastoma is often curable when it is diagnosed early. However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body. This advanced form of retinoblastoma can be life-threatening. Mutations in the RB1 gene are responsible for most cases of retinoblastoma. Most mutations in the RB1 gene prevent it from making any functional protein, so cells are unable to regulate cell division effectively. As a result, certain cells in the retina can divide uncontrollably to form a cancerous tumor. Some studies suggest that additional genetic changes can influence the development of retinoblastoma; these changes may help explain variations in the development and growth of retinoblastoma and other types of tumors in different people.A small percentage of retinoblastomas are caused by deletions in the region of chromosome 13 teg MYCN hat contains the RB1 gene.
Rhizomelic chondrodysplasia punctata https://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata Widely set eyes (hypertelorism), Additionally, almost all affected individuals have clouding of the lenses of the eyes (cataracts). The cataracts are apparent at birth (congenital) or develop in early infancy. Rhizomelic chondrodysplasia punctata results from mutations in one of three genes. Mutations in the PEX7 gene, which are most common, cause RCDP1. Changes in the GNPAT gene lead to RCDP2, while AGPS gene mutations result in RCDP3.
Ring chromosome 14 syndrome https://ghr.nlm.nih.gov/condition/ring-chromosome-14-syndrome Abnormalities of the retina, the specialized tissue at the back of the eye that detects light and color, have also been reported in some people with this condition. These changes typically do not affect vision. Caused by a chromosomal abnormality known as a ring chromosome 14, sometimes written as r(14). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. People with ring chromosome 14 syndrome have one copy of this abnormal chromosome in some or all of their cells.
Rothmund-Thomson syndrome https://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome Some affected children develop a clouding of the lens of the eye (cataract), which affects vision RECQL4 mutations lead to the production of an abnormally short, nonfunctional version of the RECQL4 protein or prevent cells from making any of this protein. A shortage of the RECQL4 protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. It is unclear how a loss of this protein's activity leads to the specific features of Rothmund-Thomson syndrome.
Sandhoff disease https://ghr.nlm.nih.gov/condition/sandhoff-disease As the disease progresses, children with Sandhoff disease experience vision loss. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Mutations in the HEXB gene disrupt the activity of beta-hexosaminidase A and beta-hexosaminidase B, which prevents these enzymes from breaking down GM2 ganglioside and other molecules. As a result, these compounds can accumulate to toxic levels, particularly in neurons of the brain and spinal cord. A buildup of GM2 ganglioside leads to the progressive destruction of these neurons, which causes many of the signs and symptoms of Sandhoff disease.
Senior-Løken syndrome https://ghr.nlm.nih.gov/condition/senior-loken-syndrome Leber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood. Senior-Løken syndrome can be caused by mutations in one of at least five genes (CEP290, IQCB1, NPHP1, NPHP4, SDCCAG8, WDR19). Mutations in the genes associated with Senior-Løken syndrome likely lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways within cells. Although researchers believe that defective cilia are responsible for the features of this disorder, it remains unclear how they lead specifically to nephronophthisis and Leber congenital amaurosis.
Septo-optic dysplasia https://ghr.nlm.nih.gov/condition/septo-optic-dysplasia The first major feature, optic nerve hypoplasia, is the underdevelopment of the optic nerves, which carry visual information from the eyes to the brain. In affected individuals, the optic nerves are abnormally small and make fewer connections than usual between the eyes and the brain. As a result, people with optic nerve hypoplasia have impaired vision in one or both eyes. Optic nerve hypoplasia can also be associated with unusual side-to-side eye movements (nystagmus) and other eye abnormalities. At least three genes (HSEX1, OTX2, PROKR2, and SOX2)have been associated with septo-optic dysplasia, although mutations in these genes appear to be rare causes of this disorder. The three genes, HESX1, OTX2, and SOX2, all play important roles in embryonic development. In particular, they are essential for the formation of the eyes, the pituitary gland, and structures at the front of the brain (the forebrain) such as the optic nerves. Mutations in any of these genes disrupt the early development of these structures, which leads to the major features of septo-optic dysplasia.
Schindler disease https://ghr.nlm.nih.gov/condition/schindler-disease Babies with Schindler disease type I appear healthy at birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired (developmental regression). As the disorder progresses, affected individuals develop blindness Mutations in the NAGA gene interfere with the ability of the alpha-N-acetylgalactosaminidase enzyme to perform its role in breaking down glycoproteins and glycolipids. These substances accumulate in the lysosomes and cause cells to malfunction and eventually die. Cell damage in the nervous system and other tissues and organs of the body leads to the signs and symptoms of Schindler disease.
Short/branched chain acyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency Additional problems can include vision impairment Mutations in the ACADSB gene reduce or eliminate the activity of this enzyme. With a shortage (deficiency) of SBCAD activity, the body is unable to break down isoleucine properly.
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly,and teething delay https://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay Eye abnormalities are common in affected individuals, particularly Rieger anomaly, which affects structures at the front of the eye. Rieger anomaly can be associated with increased pressure in the eye (glaucoma) and vision loss. Mutations in the PIK3R1 gene alter the structure of the subunit, which reduces the ability of PI3K to participate in cell signaling. Researchers are working to determine how these changes lead to the specific features of SHORT syndrome.
Sialidosis https://ghr.nlm.nih.gov/condition/sialidosis Sialidosis type I, also referred to as cherry-red spot myoclonus syndrome,Initially, affected individuals experience a loss of sharp vision (reduced visual acuity). Affected individuals have progressive vision problems, including impaired color vision or night blindness. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Sialidosis type I does not affect intelligence or life expectancy. Mutations in the NEU1 gene lead to a shortage (deficiency) of the NEU1 enzyme. When this enzyme is lacking, sialic acid-containing compounds accumulate inside lysosomes. Conditions such as sialidosis that cause molecules to build up inside lysosomes are called lysosomal storage disorders. People with sialidosis type II have mutations that severely reduce or eliminate NEU1 enzyme activity. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. It is unclear exactly how the accumulation of large molecules within lysosomes leads to the signs and symptoms of sialidosis.
Sjögren-Larsson syndrome https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome People with Sjögren-Larsson syndrome may also have nearsightedness (myopia) or an increased sensitivity to light (photophobia). Mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome.The cause of the eye problems is unclear, but it is also likely related to a disruption in the breakdown of fats.
Sjögren syndrome https://ghr.nlm.nih.gov/condition/sjogren-syndrome Sjögren syndrome is a disorder whose main features are dry eyes Dry eyes may lead to itching, burning, a feeling of sand in the eyes, blurry vision, or intolerance of bright or fluorescent lighting. No associations between specific genetic changes and the development of Sjögren syndrome have been confirmed.
Small fiber neuropathy https://ghr.nlm.nih.gov/condition/small-fiber-neuropathy Some affected individuals have dry eyes. They can also experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause blurred vision. Mutations in the SCN9A or SCN10A gene
Smith-Magenis syndrome https://ghr.nlm.nih.gov/condition/smith-magenis-syndrome Affected individuals may have eye abnormalities that cause nearsightedness (myopia) and other vision problems. In most people with Smith-Magenis syndrome, the condition results from the deletion of a small piece of chromosome 17 in each cell. Researchers believe that the loss of one particular gene, RAI1, underlies many of the characteristic features of Smith-Magenis syndrome.
SOST-related sclerosing bone dysplasia https://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia Compression of the cranial nerves can lead to vision loss, SOST mutations that cause van Buchem disease result in a shortage of functional sclerostin. This shortage reduces the protein's ability to inhibit bone formation, causing the excessive bone growth seen in people with van Buchem disease.
Sotos syndrome https://ghr.nlm.nih.gov/condition/sotos-syndrome Other signs and symptoms of Sotos syndrome can include problems with vision. Genetic changes involving the NSD1 gene prevent one copy of the gene from producing any functional protein. Research suggests that a reduced amount of NSD1 protein disrupts the normal activity of genes involved in growth and development. However, it remains unclear exactly how a shortage of this protein during development leads to overgrowth, learning disabilities, and the other features of Sotos syndrome.
Spastic paraplegia type 15 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-15 People with spastic paraplegia type 15 may have an eye condition called pigmentary maculopathy that often impairs vision. This condition results from the breakdown (degeneration) of tissue at the back of the eye called the macula, which is responsible for sharp central vision. Many ZFYVE26 gene mutations that cause spastic paraplegia type 15 result in a shortened spastizin protein that is quickly broken down. As a result, functional autophagosomes are not produced, autophagy cannot occur, and recycling of materials within cells is decreased. An inability to break down unneeded materials, and the subsequent accumulation of these materials in cells, leads to cell dysfunction and often cell death. The loss of cells in the brain and other parts of the body is responsible for many of the features of spastic paraplegia type 15. t is unclear whether a lack of spastizin protein interferes with normal cytokinesis and whether impaired cell division contributes to the signs and symptoms of spastic paraplegia type 15.
Spastic paraplegia type 3A https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-3a Additional features can include changes in vision ATL1 gene mutations likely lead to a shortage of normal atlastin-1 protein, which impairs the functioning of neurons, including the distribution of materials within these cells. This lack of functional atlastin-1 protein may also restrict the growth of axons. These problems can lead to the abnormal functioning or death of the long neurons of the corticospinal tracts. As a result, the neurons are unable to transmit nerve impulses, particularly to other neurons and muscles in the lower extremities. This impaired nerve function leads to the signs and symptoms of spastic paraplegia type 3A.
Spastic paraplegia type 5A https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-5a Additional features can include changes in vision, CYP7B1 gene mutations that cause spastic paraplegia type 5A reduce or eliminate the activity of oxysterol 7-alpha-hydroxylase. In the brain, a decrease in enzyme activity results in an accumulation of cholesterol and alters neurosteroid production triggered by oxysterol 7-alpha-hydroxylase. Abnormal levels of neurosteroids impairs cell survival, likely leading to nerve cell death. The abnormal buildup of cholesterol in the brain probably also contributes to the death of nerve cells. The loss of these cells results in the deterioration of nervous system functions (neurodegeneration) and causes the movement problems, weakness, and other signs and symptoms of spastic paraplegia type 5A.
Spinocerebellar ataxia type 3 https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 Other early signs and symptoms of SCA3 include bulging eyes, and double vision. Mutations in the ATXN3 gene cause SCA3.
Spinocerebellar ataxia type 6 https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6 Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. The CACNA1A gene mutations that cause SCA6 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 4 to 18 times within the gene. In people with SCA6, the CAG segment is repeated 20 to 33 times. People with 20 repeats tend to experience signs and symptoms of SCA6 beginning in late adulthood, while people with a larger number of repeats usually have signs and symptoms from mid-adulthood.
Spondyloepimetaphyseal dysplasia, Strudwick type https://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type severe nearsightedness (high myopia) and retinal detachment.. Mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and cartilage.
Spondyloepiphyseal dysplasia congenita https://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita Severe nearsightedness (high myopia) is common, as are other eye problems that can impair vision. Mutations in the COL2A1 gene that interfere with the assembly of type II collagen molecules, which then prevents bones and other connective tissues from developing properly.
Spondyloperipheral dysplasia https://ghr.nlm.nih.gov/condition/spondyloperipheral-dysplasia Additionally, some affected individuals have nearsightedness (myopia), Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, reducing the amount of this type of collagen in the body. Instead of forming collagen molecules, the abnormal COL2A1 protein builds up in cartilage cells (chondrocytes). These changes disrupt the normal development of bones and other connective tissues, leading to the signs and symptoms of spondyloperipheral dysplasia.
Sporadic hemiplegic migraine https://ghr.nlm.nih.gov/condition/sporadic-hemiplegic-migraine Commonly includes temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. Some affected individuals develop a rapid, involuntary eye movements called nystagmus. Mutations in the ATP1A2 and CACNA1A genes
Stargardt macular degeneration https://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration progressive vision loss. This disorder affects the retina. In most people with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. In addition to central vision loss, people with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time. The ABCA4 and ELOVL4 gene mutationsMutations in the ABCA4 gene prevent the ABCA4 protein from removing toxic byproducts from photoreceptor cells. These toxic substances build up and form lipofuscin in the photoreceptor cells and the surrounding cells of the retina, eventually causing cell death. Loss of cells in the retina causes the progressive vision loss characteristic of Stargardt macular degeneration.Mutations in the ELOVL4 gene lead to the formation of ELOVL4 protein clumps (aggregates) that build up and may interfere with retinal cell functions, ultimately leading to cell death.
Stevens-Johnson syndrome/toxic epidermal necrolysis https://ghr.nlm.nih.gov/condition/stevens-johnson-syndrome-toxic-epidermal-necrolysis A small percentage of affected individuals develop inflammation of the eyes, which can lead to increased sensitivity to light (photophobia) and vision impairment Several genetic changes have been found to increase the risk of SJS/TEN in response to triggering factors such as medications. Most of these changes occur in genes that are involved in the normal function of the immune system. The genetic variations most strongly associated with SJS/TEN occur in the HLA-B gene.
Stickler syndrome https://ghr.nlm.nih.gov/condition/stickler-syndrome Many people with Stickler syndrome have severe nearsightedness (high myopia). In some cases, the clear gel that fills the eyeball (the vitreous) has an abnormal appearance, which is noticeable during an eye examination. Other eye problems are also common, including increased pressure within the eye (glaucoma), clouding of the lens of the eyes (cataracts), and tearing of the lining of the eye (retinal detachment). These eye abnormalities cause impaired vision or blindness in some cases.Type I has the highest risk of retinal detachment. Mutations in several genes (COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A )cause the different types of Stickler syndrome. Between 80 and 90 percent of all cases are classified as type I and are caused by mutations in the COL2A1 gene. Another 10 to 20 percent of cases are classified as type II and result from mutations in the COL11A1 gene. Marshall syndrome, which may be a variant of Stickler syndrome, is also caused by COL11A1 gene mutations. Stickler syndrome types III through VI result from mutations in other, related genes.
Sturge-Weber syndrome https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome Affects the development of certain blood vessels, causing abnormalities including eyes. The GNAQ gene mutation that causes Sturge-Weber syndrome results in the production of a protein with impaired function. As a result, the altered Gαq protein cannot play its part in regulating signaling pathways, resulting in abnormally increased signaling. The enhanced signaling likely disrupts the regulation of blood vessel development, causing abnormal and excessive formation of vessels before birth in people with Sturge-Weber syndrome.
Tay-Sachs disease https://ghr.nlm.nih.gov/condition/tay-sachs-disease As the disease progresses, children with Tay-Sachs disease experience vision loss. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms of Tay-Sachs disease.
Tetrasomy 18p https://ghr.nlm.nih.gov/condition/tetrasomy-18p Additional features of tetrasomy 18p can include vision problems Each cell has four copies of the short arm of chromosome 18. (The word "tetrasomy" is derived from "tetra," the Greek word for "four.") The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder.
Tietz syndrome https://ghr.nlm.nih.gov/condition/tietz-syndrome The colored part of the eye (the iris) in affected individuals is blue, and specialized cells in the eye called retinal pigment epithelial cells lack their normal pigment. The retinal pigment epithelium nourishes the retina, the part of the eye that detects light and color. The changes to the retinal pigment epithelium are generally detectable only by an eye examination; it is unclear whether the changes affect vision. MITF gene mutations that cause Tietz syndrome either delete or change a single protein building block (amino acid) in an area of the MITF protein known as the basic motif region. Dimers incorporating the abnormal MITF protein cannot be transported into the cell nucleus to bind with DNA. As a result, most of the dimers are unavailable to bind to DNA, which affects the development of melanocytes and the production of melanin. Decreased melanin production (hypopigmentation) accounts for the retinal pigment epithelium changes that are characteristic of Tietz syndrome.
Transthyretin amyloidosis https://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis Various eye problems may occur, such as cloudiness of the clear gel that fills the eyeball (vitreous opacity), dry eyes, increased pressure in the eyes (glaucoma), or pupils with an irregular or "scalloped" appearance. Mutations in the TTR gene cause transthyretin amyloidosis. The TTR gene provides instructions for producing a protein called transthyretin. Transthyretin transports vitamin A (retinol) and a hormone called thyroxine throughout the body. To transport retinol and thyroxine, four transthyretin proteins must be attached (bound) to each other to form a four-protein unit (tetramer). Transthyretin is produced primarily in the liver. A small amount of this protein is produced in an area of the brain called the choroid plexus and in the light-sensitive tissue that lines the back of the eye (the retina).
Treacher Collins syndrome https://ghr.nlm.nih.gov/condition/treacher-collins-syndrome People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. Mutations in the TCOF1, POLR1C, or POLR1D gene reduce the production of rRNA. Researchers speculate that a decrease in the amount of rRNA may trigger the self-destruction (apoptosis) of certain cells involved in the development of facial bones and tissues. The abnormal cell death could lead to the specific problems with facial development found in Treacher Collins syndrome. However, it is unclear why the effects of a reduction in rRNA are limited to facial development.
Trichothiodystrophy https://ghr.nlm.nih.gov/condition/trichothiodystrophy Other features of trichothiodystrophy can include clouding of the lens in both eyes from birth (congenital cataracts); Most cases of the photosensitive form of trichothiodystrophy result from mutations in one of three genes: ERCC2, ERCC3, or GTF2H5. Mutations in the ERCC2, ERCC3, or GTF2H5 genes reduce the amount of TFIIH complex within cells, which impairs both DNA repair and gene transcription. An inability to repair DNA damage probably underlies the sun sensitivity in affected individuals. Studies suggest that many of the other features of trichothiodystrophy may result from problems with the transcription of genes needed for normal development before and after birth. Mutations in at least one gene, MPLKIP, have been reported to cause a non-photosensitive form of trichothiodystrophy. Mutations in this gene account for fewer than 20 percent of all cases of non-photosensitive trichothiodystrophy. Little is known about the protein produced from the MPLKIP gene, although it does not appear to be involved in DNA repair. It is unclear how mutations in the MPLKIP gene lead to the varied features of trichothiodystrophy.
TRNT1 deficiency https://ghr.nlm.nih.gov/condition/trnt1-deficiency Eye abnormalities, often involving the light-sensing tissue at the back of the eye (the retina), can occur in people with TRNT1 deficiency. Some of these individuals have a condition called retinitis pigmentosa, in which the light-sensing cells of the retina gradually deteriorate. Eye problems in TRNT1 deficiency can lead to vision loss. TRNT1 gene mutations lead to a shortage (deficiency) of functional TRNT1 protein. As a result, modification of tRNA molecules is impaired. Without the modification, tRNAs are thought to be less able to participate in protein synthesis. Researchers suspect that protein synthesis in cellular structures called mitochondria, which are the energy-producing centers of cells, is most strongly affected. The resulting decrease in energy production may damage cells in many body systems, leading to the varied signs and symptoms of TRNT1 deficiency. Researchers believe that mutations that cause a greater impairment of TRNT1 function lead to more severe signs and symptoms.
Tuberous sclerosis complex https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. tumors can develop in the light-sensitive tissue at the back of the eye (the retina). Mutations in the TSC1 or TSC2 gene
Type 1 diabetes https://ghr.nlm.nih.gov/condition/type-1-diabetes The first signs and symptoms of the disorder are caused by high blood sugar and may include blurred vision. The chronic high blood sugar associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Type 1 diabetes is generally considered to be an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. For unknown reasons, in people with type 1 diabetes the immune system damages the insulin-producing beta cells in the pancreas. Damage to these cells impairs insulin production and leads to the signs and symptoms of type 1 diabetes.The risk of developing type 1 diabetes is increased by certain variants of the HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria. Also other identified (CCR5, CTLA4, FOXP3, HLA-DQA1, HLA-DQB1, HLA-DRB1, HNF1A, IL2RA, IL6, INS, ITPR3, OAS1, PTPN22, SUMO)
Type 2 diabetes https://ghr.nlm.nih.gov/condition/type-2-diabetes Signs and symptoms develop slowly over years. They include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet (diabetic neuropathy), sores that do not heal well, and weight loss. If blood sugar levels are not controlled through medication or diet, type 2 diabetes can cause long-lasting (chronic) health problems includingdamage to the eyes, The causes of type 2 diabetes are complex. This condition results from a combination of genetic and lifestyle factors, some of which have not been identified.
Tyrosinemia type 2 https://ghr.nlm.nih.gov/condition/tyrosinemia Tyrosinemia type II can affect the eyes. Signs and symptoms often begin in early childhood and include eye pain and abnormal sensitivity to light (photophobia), Mutations in the FAH, TAT, and HPD genes can cause tyrosinemia types I, II, and III, respectively. Mutations in the FAH, TAT, or HPD gene cause a decrease in the activity of one of the enzymes in the breakdown of tyrosine. As a result, tyrosine and its byproducts accumulate to toxic levels, which can cause damage and death to cells in the liver, kidneys, nervous system, and other organs.
Usher syndrome https://ghr.nlm.nih.gov/condition/usher-syndrome Characterized by partial or total vision loss that worsens over time.The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases, vision is further impaired by clouding of the lens of the eye (cataracts) Most of the gene mutations (ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, USH1C, USH1G, USH2A, WHRN responsible for Usher syndrome lead to a loss of hair cells in the inner ear and a gradual loss of rods and cones in the retina. Degeneration of these sensory cells causes the hearing loss, balance problems, and vision loss that occur with Usher syndrome.
Vibratory urticaria https://ghr.nlm.nih.gov/condition/vibratory-urticaria Blurry vision can also occur during these episodes Vibratory urticaria can be caused by a mutation in the ADGRE2 gene.
Vitelliform macular dystrophy https://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy A genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. the onset of symptoms and the severity of vision loss vary widely. The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time. Mutations in the BEST1 gene probably lead to the production of an abnormally shaped channel that cannot properly regulate the flow of chloride. Researchers have not determined how these malfunctioning channels are related to the buildup of lipofuscin in the macula and progressive vision loss. Mutations in the PRPH2 gene cause vision loss by disrupting structures in these cells that contain light-sensing pigments. It is unclear why PRPH2 mutations affect only central vision in people with adult-onset vitelliform macular dystrophy.
Von Hippel-Lindau syndrome https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss. Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. An altered or missing VHL protein cannot effectively regulate cell survival and division. As a result, cells grow and divide uncontrollably to form the tumors and cysts that are characteristic of von Hippel-Lindau syndrome.
Wagner syndrome https://ghr.nlm.nih.gov/condition/wagner-syndrome Progressive vision loss typically begin in childhood, although the vision impairment might not be immediately apparent.(the retina) becomes thin and may separate from the back of the eye (retinal detachment). The blood vessels within the retina (known as the choroid) may also be abnormal. The retina and the choroid progressively break down (degenerate). Some people with Wagner syndrome have blurred vision because of ectopic fovea, an abnormality in which the part of the retina responsible for sharp central vision is out of place. Additionally, the thick, clear gel that fills the eyeball (the vitreous) becomes watery and thin. People with Wagner syndrome develop a clouding of the lens of the eye (cataract). Affected individuals may also experience nearsightedness (myopia), progressive night blindness, or a narrowing of their field of vision. Vision impairment in people with Wagner syndrome can vary from near normal vision to complete loss of vision in both eyes. VCAN gene mutations that cause Wagner syndrome lead to insufficient levels of versican in the vitreous. Without enough versican to interact with the many proteins of the vitreous, the structure becomes unstable. This lack of stability in the vitreous affects other areas of the eye and contributes to the vision problems that occur in people with Wagner syndrome. It is unknown why VCAN gene mutations seem solely to affect vision.
WAGR syndrome https://ghr.nlm.nih.gov/condition/wagr-syndrome Most people with WAGR syndrome have aniridia, an absence of the colored part of the eye (the iris). This can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Aniridia is typically the first noticeable sign of WAGR syndrome. Other eye problems may also develop, such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), and involuntary eye movements (nystagmus). WAGR syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. The size of the deletion varies among affected individuals. The PAX6 and WT1 genes are always deleted in people with the typical signs and symptoms of this disorder. Because changes in the PAX6 gene can affect eye development, researchers think that the loss of the PAX6 gene is responsible for the characteristic eye features of WAGR syndrome.he chromosome 11 deletion includes an additional gene, BDNF. This gene is active (expressed) in the brain and plays a role in the survival of nerve cells (neurons). The protein produced from the BDNF gene is thought to be involved in the management of eating, drinking, and body weight. Loss of the BDNF gene is likely responsible for childhood-onset obesity in people with WAGRO syndrome. People with WAGRO syndrome may be at greater risk of neurological problems such as intellectual disability and autism than those with WAGR syndrome. It is unclear whether this increased risk is due to the loss of the BDNF gene or other nearby genes.
Waldenström macroglobulinemia https://ghr.nlm.nih.gov/condition/waldenstrom-macroglobulinemia Several other signs and symptoms of the condition are related to the excess IgM, which can thicken blood and impair circulation, causing a condition known as hyperviscosity syndrome. Features related to hyperviscosity syndrome include bleeding in the nose or mouth, blurring or loss of vision, The proteins produced from the MYD88 and CXCR4 genes are both involved in signaling within cells.Mutations in these genes lead to production of proteins that are constantly functioning (overactive). Excessive signaling through these overactive proteins allows survival and proliferation of abnormal cells that should undergo apoptosis, which likely contributes to the accumulation of lymphoplasmacytic cells in Waldenström macroglobulinemia.
Walker-Warburg syndrome https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome Eye abnormalities are also characteristic of Walker-Warburg syndrome. These can include unusually small eyeballs (microphthalmia), enlarged eyeballs caused by increased pressure in the eyes (buphthalmos), clouding of the lenses of the eyes (cataracts), and problems with the nerve that relays visual information from the eyes to the brain (the optic nerve). These eye problems lead to vision impairment in affected individuals. Walker-Warburg syndrome can be caused by mutations in at least a dozen genes (B3GALNT2, B4GAT1, DAG1, FKRP, FKTN, ISPD, LARGE1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1) The most commonly mutated genes were discovered first, including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. Mutations in these genes are found in about half of individuals with Walker-Warburg syndrome. Other genes, some of which have not been identified, are also involved in development of this condition. Mutations in the genes associated with Walker-Warburg syndrome prevent glycosylation of α-dystroglycan, which disrupts its normal function. Without functional α-dystroglycan to stabilize muscle cells, muscle fibers become damaged as they repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to progressive weakness of the skeletal muscles.
Weill-Marchesani syndrome https://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. This term refers to a small, sphere-shaped lens, which is associated with nearsightedness (myopia) that worsens over time. The lens also may be positioned abnormally within the eye (ectopia lentis). Many people with Weill-Marchesani syndrome develop glaucoma, an eye disease that increases the pressure in the eye and can lead to blindness. Mutations in the ADAMTS10 and FBN1 genes can cause Weill-Marchesani syndrome. The ADAMTS10 gene provides instructions for making a protein whose function is unknown. This protein is important for normal growth before and after birth, and it appears to be involved in the development of the eyes, heart, and skeleton. Mutations in this gene disrupt the normal development of these structures, which leads to the specific features of Weill-Marchesani syndrome. The FBN1 mutation responsible for Weill-Marchesani syndrome leads to an unstable version of fibrillin-1. Researchers believe that the unstable protein interferes with the normal assembly of microfibrils, which weakens connective tissue and causes the abnormalities associated with Weill-Marchesani syndrome.
Werner syndrome https://ghr.nlm.nih.gov/condition/werner-syndrome As Werner syndrome progresses, affected individuals may develop disorders of aging early in life, such as cloudy lenses (cataracts) in both eyes, Mutations in the WRN gene often lead to the production of an abnormally short, nonfunctional Werner protein. Research suggests that this shortened protein is not transported to the cell's nucleus, where it normally interacts with DNA. Evidence also suggests that the altered protein is broken down more quickly in the cell than the normal Werner protein. Researchers do not fully understand how WRN mutations cause the signs and symptoms of Werner syndrome. Cells with an altered Werner protein may divide more slowly or stop dividing earlier than normal, causing growth problems. Also, the altered protein may allow DNA damage to accumulate, which could impair normal cell activities and cause the health problems associated with this condition.
Williams syndrome https://ghr.nlm.nih.gov/condition/williams-syndrome Medical problems involving the eyes and vision ible. Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes 26 to 28 genes (ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, GTF2IRD2, LAT2, LIMK1, METTL27, MLXIPL, NCF1, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37, chr). CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found in many people with this disease. Studies suggest that deletion of CLIP2, GTF2I, GTF2IRD1, LIMK1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks
Wolfram syndrome https://ghr.nlm.nih.gov/condition/wolfram-syndrome The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). Optic atrophy is often the next symptom to appear, usually around age 11. The first signs of optic atrophy are loss of color vision and side (peripheral) vision. Over time, the vision problems get worse, and people with optic atrophy are usually blind within approximately 8 years after signs of optic atrophy first begin. The CISD2 gene mutation that causes Wolfram syndrome type 2 results in an abnormally small, nonfunctional CISD2 protein. As a result, mitochondria are not properly maintained, and they eventually break down. Since the mitochondria provide energy to cells, the loss of mitochondria results in decreased energy for cells. Cells that do not have enough energy to function will eventually die. Cells with high energy demands such as nerve cells in the brain, eye, or gastrointestinal tract are most susceptible to cell death due to reduced energy. It is unknown why people with CISD2 gene mutations have ulcers and bleeding problems in addition to the usual Wolfram syndrome features. WFS1 gene mutations lead to the production of a wolframin protein that has reduced or absent function. As a result, calcium levels within cells are not regulated and the endoplasmic reticulum does not work correctly. When the endoplasmic reticulum does not have enough functional wolframin, the cell triggers its own cell death (apoptosis). The death of cells in the pancreas, specifically cells that make insulin (beta cells), causes diabetes mellitus in people with Wolfram syndrome. The gradual loss of cells along the optic nerve eventually leads to blindness in affected individuals.
X-linked adrenoleukodystrophy https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy Additional signs and symptoms of the cerebral form include vision problems, ABCD1 gene mutations result in a shortage (deficiency) of ALDP. When this protein is lacking, the transport and subsequent breakdown of VLCFAs is disrupted, causing abnormally high levels of these fats in the body. The accumulation of VLCFAs may be toxic to the adrenal cortex and myelin. Research suggests that the accumulation of VLCFAs triggers an inflammatory response in the brain, which could lead to the breakdown of myelin. The destruction of these tissues leads to the signs and symptoms of X-linked adrenoleukodystrophy.
X-linked chondrodysplasia punctata 1 https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-1 Other, less common features of X-linked chondrodysplasia punctata 1 include vision abnormalities Between 60 and 75 percent of males with the characteristic features of X-linked chondrodysplasia punctata 1 have a mutation in the ARSE gene. These mutations reduce or eliminate the function of arylsulfatase E. Another 25 percent of affected males have a small deletion of genetic material from the region of the X chromosome that contains the ARSE gene. These individuals are missing the entire gene, so their cells produce no functional arylsulfatase E. Researchers are working to determine how a shortage of arylsulfatase E disrupts the development of bones and cartilage and leads to the characteristic features of X-linked chondrodysplasia punctata 1. Some people with the features of X-linked chondrodysplasia punctata 1 do not have an identified mutation in the ARSE gene or a deletion involving the gene.
X-linked chondrodysplasia punctata 2/ Conradi- Hünermann氏综合症 https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2 Clouding of the lens of the eye (cataracts) from birth or early childhood. Other eye abnormalities that have been associated with this disorder include unusually small eyes (microphthalmia) and small corneas (microcornea). These eye abnormalities can impair vision. Mutations in the EBP gene reduce the activity of 3β-hydroxysteroid-Δ8,Δ7-isomerase, preventing cells from producing enough cholesterol. A shortage of this enzyme also allows potentially toxic byproducts of cholesterol production to build up in the body. The combination of low cholesterol levels and an accumulation of other substances likely disrupts the growth and development of many body systems.
X-linked congenital stationary night blindness https://ghr.nlm.nih.gov/condition/x-linked-congenital-stationary-night-blindness A disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing in low light (night blindness). They also have other vision problems, including loss of sharpness (reduced acuity), severe nearsightedness (high myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). Color vision is typically not affected by this disorder. Mutations in the NYX or CACNA1F gene disrupt the transmission of visual signals between photoreceptors and retinal bipolar cells, which impairs vision. In people with the complete form of X-linked congenital stationary night blindness (resulting from NYX mutations), the function of rods is severely disrupted, while the function of cones is only mildly affected. In people with the incomplete form of the condition (resulting from CACNA1F mutations), rods and cones are both affected, although they retain some ability to detect light.
X-linked juvenile retinoschisis https://ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis impairs the sharpness of vision (visual acuity) in both eyes. Occasionally, side (peripheral) vision is affected in people with X-linked juvenile retinoschisis. Damage to the retina RS1 gene mutations result in a decrease in or complete loss of functional retinoschisin, which disrupts the maintenance and organization of cells in the retina.
Xeroderma pigmentosum https://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum may be painfully sensitive to UV rays from the sun. If the eyes are not protected from the sun, they may become bloodshot and irritated, and the clear front covering of the eyes (the cornea) may become cloudy. In some people, the eyelashes fall out and the eyelids may be thin and turn abnormally inward or outward. In addition to an increased risk of eye cancer, xeroderma pigmentosum is associated with noncancerous growths on the eye. Many of these eye abnormalities can impair vision. An inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Inherited mutations in at least eight genes (DDB, ERCC, ERCC3, ERCC4 ERCC5, POLH, XPA, XPC) have been found to cause xeroderma pigmentosum. More than half of all cases in the United States result from mutations in the XPC, ERCC2, or POLH genes. Mutations in the other genes generally account for a smaller percentage of cases.
Zellweger spectrum disorder https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder Individuals with Zellweger syndrome, at the severe end of the spectrum, develop signs and symptoms of the condition during the newborn period. These infants experience vision loss. Children with these less-severe conditions often have vision problems, In rare cases, individuals at the mildest end of the condition spectrum have developmental delay in childhood and vision problems beginning in adulthood and do not develop the other features of this disorder.

Syndroms correlate with infertility difficult to pregnant
Name GHR-webpage Genes Male or female
17 alpha-hydroxylase/17,20-lyase deficiency https://ghr.nlm.nih.gov/condition/17-alpha-hydroxylase-17-20-lyase-deficiency mutations in the CYP17A1 M & F
48,XXYY syndrome https://ghr.nlm.nih.gov/condition/48xxyy-syndrome M
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy https://ghr.nlm.nih.gov/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy Mutations in the AIRE gene M & F
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), type 1 https://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome Mutations in the FOXL2 gene cause BPES types I and II. F
Bloom syndrome https://ghr.nlm.nih.gov/condition/bloom-syndrome Mutations in the BLM gene cause Bloom syndrome. M & F(reduced fertility)
CATSPER1-related nonsyndromic male infertility https://ghr.nlm.nih.gov/condition/catsper1-related-nonsyndromic-male-infertility Mutations in the CATSPER1 M
Celiac disease https://ghr.nlm.nih.gov/condition/celiac-disease HLA-DQA1, HLA-DQB1 The resistance to glutan free diet will lead to poor nutrient absorption and thus infertility
Combined pituitary hormone deficiency https://ghr.nlm.nih.gov/condition/combined-pituitary-hormone-deficiency GL12, HESX1, LHX3, LHX4, OTX2, POU1F1, PROKR2, PROP1, SOX2 may have hypothyroidism, which causes infertility
Congenital bilateral absence of the vas deferens https://ghr.nlm.nih.gov/condition/congenital-bilateral-absence-of-the-vas-deference CFTR M
Cystic fibrosis https://ghr.nlm.nih.gov/condition/cystic-fibrosis CFTR M
Cytochrome P450 oxidoreductase deficiency https://ghr.nlm.nih.gov/condition/cytochrome-p450-oxidoreductase-deficiency POR M & F
Erdheim-Chester disease https://ghr.nlm.nih.gov/condition/erdheim-chester-disease BRAF F only?
Familial partial lipodystrophy https://ghr.nlm.nih.gov/condition/familial-partial-lipodystrophy ADRA2A, AKT2, CIDEC, LIPE, LMNA, PLIN1, PPARG F
Fanconi Anaemia https://ghr.nlm.nih.gov/condition/fanconi-anemia M & F
Fragile X-associated primary ovarian insufficiency https://ghr.nlm.nih.gov/condition/fragile-x-associated-primary-ovarian-insufficiency FMR1 F
Globozoospermia https://ghr.nlm.nih.gov/condition/globozoospermia DPY19L2 M
Klinefelter syndrome https://ghr.nlm.nih.gov/condition/klinefelter-syndrome X chromosome M
Langerhans cell histiocytosis https://ghr.nlm.nih.gov/condition/langerhans-cell-histiocytosis BRAF, MAP2K1, MAP3K1 M
Macrozoospermia https://ghr.nlm.nih.gov/condition/macrozoospermia AURKC M & f
Myotonic dystrophy https://ghr.nlm.nih.gov/condition/myotonic-dystrophy CNBP, DMPK M
Noonan syndrome https://ghr.nlm.nih.gov/condition/noonan-syndrome A2ML1, BRAF, KRAS, LZTR1, MAP2K1, NRAS, PTPN11, SOS1, SOS2, RAF1, RASA2, RRAS, and RIT1 M
Persistent Müllerian duct syndrome https://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome AMH, AMHR2 M
Primary ciliary dyskinesia https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia ARMC4, CCDC39, CCDC40… M & F
Sensorineural deafness and male infertility https://ghr.nlm.nih.gov/condition/sensorineural-deafness-and-male-infertility CATSPER2, STRC, chr15 M gene-symbol ghr-page MeSH D002925
Woodhouse-Sakati syndrome https://ghr.nlm.nih.gov/condition/woodhouse-sakati-syndrome DCAF17 M & F
X-linked adrenal hypoplasia congenita https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita NR0B1 M
Y chromosome infertility https://ghr.nlm.nih.gov/condition/y-chromosome-infertility USP9Y, Y chromosome M

Syndroms related to heart arrest
Name GHR-webpage Problems Gene

Syndromes with high incidence (ie > 1:1000)

syndroms not listed in the western but only in china official website
Chinese English
下丘脑功能障碍综合征 Hypothalamic dysfunction syndrome
先天性Cajal氏间质细胞增生合并肠道神经元发育异常 Congenital Interstitial Cell of Cajal Hyperplasia with Neuronal Intestinal Dysplasia
先天性胫骨假关节 congenltal pseudarthrosis of thetibia
同基因合子蛋白质 C缺乏症 Homozygous proetin C deficiency
Alsrtöm氏综合症 Alsrtöm Syndrome
Kenny-Caffey氏综合症 Kenny-Caffey Syndrome
3-氢基-3-甲基戊二酸血症 3-Hydroxy-3-methyl-glutaric acidemia
原发性肺血铁质沉积症 Primary Pulmonary hemosiderosis
特发性婴儿动脉硬化症 Idiopathic Infantile Arterial Calcification
家族性低血钾症 Familial Hypokalemia
严重复合型免疫缺乏症 Severe combined immunodeficiency (SCID)
先天性水痘综合征 Congenital Varicella Syndrome

Syndromes related to back pain

late onset syndromes
Name GHR-webpage Problems Genes
17β-hydroxysteroid dehydrogenase type 10 deficiency https://ghr.nlm.nih.gov/condition/hsd10-disease Most affected males have a form of HSD10 disease in which early development seems normal, followed by a stage in which affected individuals rapidly lose skills they have acquired. This developmental regression often occurs between the ages of 1 and 2 and results in severe intellectual disability and loss of communication skills and motor skills such as sitting, standing, and walking. This form of the disorder is referred to as the infantile type. Less commonly, affected males have severe neurological problems from birth and never develop motor skills. This form is called the neonatal type.

Name GHR-webpage frequency Description Inheritance-pattern Related-gene-list Synonym-list Db-key-list key reviewed published
1 Autoimmune Addison disease https://ghr.nlm.nih.gov/condition/autoimmune-addison-disease
2 Autosomal dominant nocturnal frontal lobe epilepsy https://ghr.nlm.nih.gov/condition/autosomal-dominant-nocturnal-frontal-lobe-epil
epsy
3 Biotin-thiamine-responsive basal ganglia disease https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disea
se
4 Carbamoyl phosphate synthetase I deficiency https://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency
5 Carnitine palmitoyltransferase II deficiency https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency
肉鹼結合酵素缺乏症第二型
6 Catecholaminergic polymorphic ventricular tachycardia https://ghr.nlm.nih.gov/condition/catecholaminergic-polymorphic-ventricular-tach
ycardia
7 Cyclic vomiting syndrome https://ghr.nlm.nih.gov/condition/cyclic-vomiting-syndrome
8 Episodic ataxia https://ghr.nlm.nih.gov/condition/episodic-ataxia
9 Erythrokeratodermia variabilis et progressiva https://ghr.nlm.nih.gov/condition/erythrokeratodermia-variabilis-et-progressiva
进行性可变性红斑皮肤角化症
10 Essential tremor https://ghr.nlm.nih.gov/condition/essential-tremor
原發性顫抖症
11 Familial hemiplegic migraine https://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine
家族性偏瘫性偏头痛
12 Familial paroxysmal nonkinesigenic dyskinesia https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia
13 Glutaric acidemia type II https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii
戊二酸血症 第二型
14 Hartnup disease https://ghr.nlm.nih.gov/condition/hartnup-disease
15 Hereditary angioedema, HAE https://ghr.nlm.nih.gov/condition/hereditary-angioedema
遺傳性血管水腫
16 Hereditary neuralgic amyotrophy https://ghr.nlm.nih.gov/condition/hereditary-neuralgic-amyotrophy
遺傳性神經性肌萎縮
17 Hereditary paraganglioma-pheochromocytoma https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma
遺傳性副神經節嗜鉻細胞瘤
18 Hyperkalemic periodic paralysis https://ghr.nlm.nih.gov/condition/hyperkalemic-periodic-paralysis
低血鉀週期性麻痺症
19 Juvenile myoclonic epilepsy https://ghr.nlm.nih.gov/condition/juvenile-myoclonic-epilepsy
青少年肌阵挛性癫痫
20 Ménière disease https://ghr.nlm.nih.gov/condition/meniere-disease
美尼爾病
21 Muckle-Wells syndrome https://ghr.nlm.nih.gov/condition/muckle-wells-syndrome
穆-韦二氏综合征:淀粉样变性-耳聋-荨麻疹-肢痛综合征
22 Myasthenia gravis https://ghr.nlm.nih.gov/condition/myasthenia-gravis
重症肌無力
23 Nonsyndromic paraganglioma https://ghr.nlm.nih.gov/condition/nonsyndromic-paraganglioma
非綜合徵性副神經節瘤
24 Paroxysmal extreme pain disorder https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder
陣發性極度疼痛症
25 Porphyria https://ghr.nlm.nih.gov/condition/porphyria
紫質症
26 Rapid-onset dystonia parkinsonism https://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism
27 Sporadic hemiplegic migraine https://ghr.nlm.nih.gov/condition/sporadic-hemiplegic-migraine
散发性偏瘫性偏头痛
28 STING-associated vasculopathy with onset in infancy https://ghr.nlm.nih.gov/condition/sting-associated-vasculopathy-with-onset-in-in
fancy
29 Systemic scleroderma https://ghr.nlm.nih.gov/condition/systemic-scleroderma
系統性硬皮症
30 Tumor necrosis factor receptor-associated periodic syndrome https://ghr.nlm.nih.gov/condition/tumor-necrosis-factor-receptor-associated-peri
odic-syndrome
31 Unverricht-Lundborg disease https://ghr.nlm.nih.gov/condition/unverricht-lundborg-disease
32 Systemic lupus erythr???
AND all autoimmune disease
33 Autoimmune lymphoproliferative syndrome https://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome
34 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy https://ghr.nlm.nih.gov/condition/autoimmune-polyendocrinopathy-candidiasis-ecto
dermal-dystrophy